question
stringlengths
84
268
answer
stringlengths
6
879
reference_sequence
stringlengths
4.1k
4.1k
mutated_sequence
stringlengths
4.1k
4.1k
cleaned_pathogenicity
stringclasses
2 values
__index_level_0__
int64
67
343k
A genetic alteration at chromosome 1, position 9244919, in gene H6PD (hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase)—benign or pathogenic? If pathogenic, which disease(s) is involved?
benign
TTCTCTCCAGACGAGCGATTGCCGGTTGAGGAAAAAACGCTTGAAGGGCCAAGGACAGGGACTGGAAAGCAGGAGGAAAAAGCAGAATGGTCCTGTGGTCCGTGTGTGTATTTAGGGGTGAGGGCAGATACAGGGAGAGTGGGAGAGGAAGGCTGGGGAGCCACCCGTGTGGCCCTGATCCTCTAGTTAAAGCTCCAGTGATGGACGCGTCGTGTGTCCTGTAGACACTGGCTCAGACACTGTGGTTGGGTCCTCACCTTGGGTTGGTCCCTCACTAGGACCCTCTTGGAGATGGATCTTGAGAGAGATGAGGAAGAGGCAGAGGGGGTGGTGGGAGGAGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTGGTGCCCTCTGTATAGGGATGGTGGAGAGGTCATTGGGCTGGTTCTGTGGGGACTTTTGTAAGTTATCTCTTTAAACCTCAACTTCTCCATTTGTATTACCAGATTATGGCTTCCTAAAGTTGTTAAAGATTTTGTTAATCCTTTACCTGGTAAATGCCTGACATATAATAGGCGCTAAATCAGCCATTCAGTTCCTTCGTCACTGCTCCCACCTGCAGGCTGAGCCCCATTTCCACCGTGGATTTCTGACTAGTTCCCATGGGCATGCCGGCCGTGATGACTTTCCCCCTCACTTCCTTCTTCCTTTCCCTCCAACACTGGCCTTGGTTGGAAGCTAGAGAGCCAGAGAGCTGTGGAGGAAGAATTCAGTGCAGGAAGCCCTACAACCTTGGTTAGAACAGAAGGGCAGAACAAACAAATACTTGGTGTGTTTGTGACCCACCTTAGGCCTCTACTTCTCATGCATGTGAGTGCCTCAGTTTAGGCTGAACACTAGCCCAGGTGGTTTGCTTACCTGGGAGAGGTTGTAGCCACTGGCCCAGACACTGTTGTTGGTCCTCACCTTGGGTTGGTCACTCACTAGGACCCTCTTGGACATGAATTTTGAGAGAGATGAGGAAGAGGCGGGGGCGGTGGGAGGGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTTGGTCCCCTCTATAGCGGTGCTGGAGAGGTCATTGGGCATGTCATGCAGTGGCTGCACAGTCAGTCCCAGCTCCCCTGCTTTCTTACCCTGGGACCTTCATTGACCTGAGCCTCAGCTTTTCCATTTGCAGAATGGGAGGACTGTCACAGAACCCCATGTGGTTCTTTCAGGATTCTTGTCTGGATTCATTGAGCTCTAATACACATAAGTACTTAGTGCCAGCACTAATCATTTGCTGGTATCACTCTTCCAGGATGACACCTACCACTCGGTGCTTAATAGGTGATAGGTACAGGCCTCAGCTCATTATAAGCATGAACTCCTTTTATCCTTATAACAACTCTGTGCTGTAGGTACCGCTATTACCCCCATTTCAGGTGAGAAAACTGAGGTACAGCCAGGTTAAATAATTGTGCACTTACTAAGGGGTTGAGCTGGGATTCAAACTCAGGCAGTTAGTCTGGAGTCCATGTTTTCTGTCACTATGCTGTAGCAGTTATTAGTCATCACTTGGTAGTTGGAGCCCAGTGGACATGGAGAAGAGGCAAGTGAGAGGAGGTGGTCCTGCCCTCTCACTGTTCCAACTGTCGCCTGAGGACCTGCCACTATACCTAGGCTGGGGCTGCCCTGCTTGTCCGGGTGACCTGTGCTCCTAGAAGAGACTGGCCTTGGTCATAAAATGGACAGCTCCACTCCCAGGCCTGCGGCCCTCCCTGGTGGCCTTTGCCGCTTTCCTATGCTCCTGGCAGCAAAGTGGTTCATCTCTAGCAAGTGGTCTCTAACTTTCCCAGGCAGAGTCCCTGTCTACAGGGCAGGCTCCCTACCCACTGACTTCCTGGAACAGAAGCCAAGCTGTCAGGAGGGAGGGACAAGCTGTGGGCTTATAACATTTTCTTAAGAAACACGTGGTGGTTTCTTGCCAGGCAGGAAGTGTTTGTTTCCACATCGTAGCCACCTGAACCATGTCTGATCCTTCCTTGTTCCTCGTCTGTCTCTCTTTGCACCCCAGGCACCCAGGCATGTGGAATATGCTCATAGTGGCGATGTGCTTGGCCCTTCTGGGCTGCCTGCAAGCCCAGGAGCTCCAGGGACATGTCTCCATAATCCTGCTGGGAGCAACTGGGGACCTGGCTAAGAAGTACTTATGGCAGGGACTGTTCCAGCTGTACCTGGATGAAGCGGGGAGGGGTCACAGTTTTAGCTTCCATGGAGCTGCTCTGACAGCCCCCAAGCAGGGTCAAGAGCTCATGGCCAAGGCCCTGGAATCCCTCTCCTGCCCCAAGGACATGGCACCCAGTCACTGTGCAGAGCACAAGGATCAGTTCCTGCAGCTGAGCCAGTACCGCCAACTGAAGACGGCCGAGGACTATCAGGCCCTGAACAAGGACATCGAGGCACAGCTCCAGCACGCAGGCCTCCGGGAGGCTGGCAGGATCTTCTACTTCTCAGTGCCACCCTTCGCCTATGAAGACATTGCCCGCAACATCAACAGTAGCTGCCGGCCAGGCCCGGGCGCCTGGCTGCGGGTTGTCCTTGAGAAACCCTTTGGCCATGACCACTTCTCAGCCCAGCAGCTGGCCACAGAACTCGGGACCTTTTTCCAGGAGGAGGAGATGTACCGGGTGGACCATTACTTAGGCAAGCAGGTGAGCATCAGCATGGAGCCTGCCAGGGCTAGGGTGAGCTGGGCGCTGGTAGACCCCAGCAACAAAGCCGCTCGCTCATTGTGGAGCTAGGCCCCAAGGCATTGTGAACTCAGAGCTCCCATGGTCTCCTTGAAGGTGGGCAGGAGGCGAGCGGGTAAAGGAAAGACAGCAGCAGGGCAGGACTGTTGGGTCCTTGTCCATGTGTCTGGCCTCTTTTGTCCTTTGCAAAGCCCCCGTTCTCGTTGTTTCCCAGTCTGGGCTCTGGCTTCTCACGGTTGCCCTGCATCCCCTGTAGCGGTGGCTCAGCAACTCTGGTGTCTGGATCTGGCTTCCTGTTGGGTGTGCTGTGGGAATCAGAATGAGCTCTCTTCTCCTGCACCCATCCACCTTTTTTTTTTTTTTAGACAGAGTCTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTCGGAGTACAGGCGCGCATCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAAATCCTGACTTCAAGTGATCCGCTCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCTGCCCCATCTACCTTTTTTCAAAATGTTTTTCTTCCTGAGTTCTGTTTTGAGCCAGAAGGTTGGCAACAAGAGCTTAAACCAGGGAGCAGTAGGACCTTAAGTCCTGGGCAGGAGCATGGGTTAACCTCCTGGGTGACACATGTCCGTTGACCAGTTCACTCAAAATGCCTTGGAGGCCCTTGGGGGCATCCTGCCCCAGGAACCCTGGCAGAGAGTGCAGCAGCCCTGTGTTCTGGTACGTGGTGCGGGTGGGCATAGGCAGTTGTTGAGGACAGAGACATGGCCTTCCATCCCACCCTGCCTGGAGTTGCCCATAGTAGGATTCCTAAATAGGGGTCCTCAGAACTGGGCCAGTCCTGGGGAGGTTTTCACTTGTTTATGGCAAGATGAGAAGAAATACAGAATGTGCTCAATTCAGAGCTTTTCTTTGCTACATTTTTGGTGTTAAACCTATCTTTATTTTATTAAAAATTGATTGTAATAGAAGATAGGTAATTCTAACTTTTTTTCTTGGCAAAATACAAATCTGGTAACCCTTTGGAGGTCACTTGCAAGTTTTTGGAACCTTTACTGGCCTGTGAGATCGTGAAGTCCAGAACTACTGCTCAGAGGGCATCTTCTGCTCTGAGCAGGGAATAGAAAGGTCAGAGCCCTTCCCGGGAGTCAGGGTTCCTCCTTCATCGTGAGAGTATCCTGCAGCACGCCCAGTCTTCCCCCCCCGACAGG
TTCTCTCCAGACGAGCGATTGCCGGTTGAGGAAAAAACGCTTGAAGGGCCAAGGACAGGGACTGGAAAGCAGGAGGAAAAAGCAGAATGGTCCTGTGGTCCGTGTGTGTATTTAGGGGTGAGGGCAGATACAGGGAGAGTGGGAGAGGAAGGCTGGGGAGCCACCCGTGTGGCCCTGATCCTCTAGTTAAAGCTCCAGTGATGGACGCGTCGTGTGTCCTGTAGACACTGGCTCAGACACTGTGGTTGGGTCCTCACCTTGGGTTGGTCCCTCACTAGGACCCTCTTGGAGATGGATCTTGAGAGAGATGAGGAAGAGGCAGAGGGGGTGGTGGGAGGAGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTGGTGCCCTCTGTATAGGGATGGTGGAGAGGTCATTGGGCTGGTTCTGTGGGGACTTTTGTAAGTTATCTCTTTAAACCTCAACTTCTCCATTTGTATTACCAGATTATGGCTTCCTAAAGTTGTTAAAGATTTTGTTAATCCTTTACCTGGTAAATGCCTGACATATAATAGGCGCTAAATCAGCCATTCAGTTCCTTCGTCACTGCTCCCACCTGCAGGCTGAGCCCCATTTCCACCGTGGATTTCTGACTAGTTCCCATGGGCATGCCGGCCGTGATGACTTTCCCCCTCACTTCCTTCTTCCTTTCCCTCCAACACTGGCCTTGGTTGGAAGCTAGAGAGCCAGAGAGCTGTGGAGGAAGAATTCAGTGCAGGAAGCCCTACAACCTTGGTTAGAACAGAAGGGCAGAACAAACAAATACTTGGTGTGTTTGTGACCCACCTTAGGCCTCTACTTCTCATGCATGTGAGTGCCTCAGTTTAGGCTGAACACTAGCCCAGGTGGTTTGCTTACCTGGGAGAGGTTGTAGCCACTGGCCCAGACACTGTTGTTGGTCCTCACCTTGGGTTGGTCACTCACTAGGACCCTCTTGGACATGAATTTTGAGAGAGATGAGGAAGAGGCGGGGGCGGTGGGAGGGGGGGTCTGACGTCAGGGTCAAGAGGCAGATTTGGTCCCCTCTATAGCGGTGCTGGAGAGGTCATTGGGCATGTCATGCAGTGGCTGCACAGTCAGTCCCAGCTCCCCTGCTTTCTTACCCTGGGACCTTCATTGACCTGAGCCTCAGCTTTTCCATTTGCAGAATGGGAGGACTGTCACAGAACCCCATGTGGTTCTTTCAGGATTCTTGTCTGGATTCATTGAGCTCTAATACACATAAGTACTTAGTGCCAGCACTAATCATTTGCTGGTATCACTCTTCCAGGATGACACCTACCACTCGGTGCTTAATAGGTGATAGGTACAGGCCTCAGCTCATTATAAGCATGAACTCCTTTTATCCTTATAACAACTCTGTGCTGTAGGTACCGCTATTACCCCCATTTCAGGTGAGAAAACTGAGGTACAGCCAGGTTAAATAATTGTGCACTTACTAAGGGGTTGAGCTGGGATTCAAACTCAGGCAGTTAGTCTGGAGTCCATGTTTTCTGTCACTATGCTGTAGCAGTTATTAGTCATCACTTGGTAGTTGGAGCCCAGTGGACATGGAGAAGAGGCAAGTGAGAGGAGGTGGTCCTGCCCTCTCACTGTTCCAACTGTCGCCTGAGGACCTGCCACTATACCTAGGCTGGGGCTGCCCTGCTTGTCCGGGTGACCTGTGCTCCTAGAAGAGACTGGCCTTGGTCATAAAATGGACAGCTCCACTCCCAGGCCTGCGGCCCTCCCTGGTGGCCTTTGCCGCTTTCCTATGCTCCTGGCAGCAAAGTGGTTCATCTCTAGCAAGTGGTCTCTAACTTTCCCAGGCAGAGTCCCTGTCTACAGGGCAGGCTCCCTACCCACTGACTTCCTGGAACAGAAGCCAAGCTGTCAGGAGGGAGGGACAAGCTGTGGGCTTATAACATTTTCTTAAGAAACACGTGGTGGTTTCTTGCCAGGCAGGAAGTGTTTGTTTCCACATCGTAGCCACCTGAACCATGTCTGATCCTTCCTTGTTCCTCGTCTGTCTCTCTTTGCACCCCAGGCATGTGGAATATGCTCATAGTGGCGATGTGCTTGGCCCTTCTGGGCTGCCTGCAAGCCCAGGAGCTCCAGGGACATGTCTCCATAATCCTGCTGGGAGCAACTGGGGACCTGGCTAAGAAGTACTTATGGCAGGGACTGTTCCAGCTGTACCTGGATGAAGCGGGGAGGGGTCACAGTTTTAGCTTCCATGGAGCTGCTCTGACAGCCCCCAAGCAGGGTCAAGAGCTCATGGCCAAGGCCCTGGAATCCCTCTCCTGCCCCAAGGACATGGCACCCAGTCACTGTGCAGAGCACAAGGATCAGTTCCTGCAGCTGAGCCAGTACCGCCAACTGAAGACGGCCGAGGACTATCAGGCCCTGAACAAGGACATCGAGGCACAGCTCCAGCACGCAGGCCTCCGGGAGGCTGGCAGGATCTTCTACTTCTCAGTGCCACCCTTCGCCTATGAAGACATTGCCCGCAACATCAACAGTAGCTGCCGGCCAGGCCCGGGCGCCTGGCTGCGGGTTGTCCTTGAGAAACCCTTTGGCCATGACCACTTCTCAGCCCAGCAGCTGGCCACAGAACTCGGGACCTTTTTCCAGGAGGAGGAGATGTACCGGGTGGACCATTACTTAGGCAAGCAGGTGAGCATCAGCATGGAGCCTGCCAGGGCTAGGGTGAGCTGGGCGCTGGTAGACCCCAGCAACAAAGCCGCTCGCTCATTGTGGAGCTAGGCCCCAAGGCATTGTGAACTCAGAGCTCCCATGGTCTCCTTGAAGGTGGGCAGGAGGCGAGCGGGTAAAGGAAAGACAGCAGCAGGGCAGGACTGTTGGGTCCTTGTCCATGTGTCTGGCCTCTTTTGTCCTTTGCAAAGCCCCCGTTCTCGTTGTTTCCCAGTCTGGGCTCTGGCTTCTCACGGTTGCCCTGCATCCCCTGTAGCGGTGGCTCAGCAACTCTGGTGTCTGGATCTGGCTTCCTGTTGGGTGTGCTGTGGGAATCAGAATGAGCTCTCTTCTCCTGCACCCATCCACCTTTTTTTTTTTTTTAGACAGAGTCTGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCCAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTCGGAGTACAGGCGCGCATCACCATGCCCGGCTAATTTTTTGCATTTTTAGTAGAAATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAAATCCTGACTTCAAGTGATCCGCTCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCTGCCCCATCTACCTTTTTTCAAAATGTTTTTCTTCCTGAGTTCTGTTTTGAGCCAGAAGGTTGGCAACAAGAGCTTAAACCAGGGAGCAGTAGGACCTTAAGTCCTGGGCAGGAGCATGGGTTAACCTCCTGGGTGACACATGTCCGTTGACCAGTTCACTCAAAATGCCTTGGAGGCCCTTGGGGGCATCCTGCCCCAGGAACCCTGGCAGAGAGTGCAGCAGCCCTGTGTTCTGGTACGTGGTGCGGGTGGGCATAGGCAGTTGTTGAGGACAGAGACATGGCCTTCCATCCCACCCTGCCTGGAGTTGCCCATAGTAGGATTCCTAAATAGGGGTCCTCAGAACTGGGCCAGTCCTGGGGAGGTTTTCACTTGTTTATGGCAAGATGAGAAGAAATACAGAATGTGCTCAATTCAGAGCTTTTCTTTGCTACATTTTTGGTGTTAAACCTATCTTTATTTTATTAAAAATTGATTGTAATAGAAGATAGGTAATTCTAACTTTTTTTCTTGGCAAAATACAAATCTGGTAACCCTTTGGAGGTCACTTGCAAGTTTTTGGAACCTTTACTGGCCTGTGAGATCGTGAAGTCCAGAACTACTGCTCAGAGGGCATCTTCTGCTCTGAGCAGGGAATAGAAAGGTCAGAGCCCTTCCCGGGAGTCAGGGTTCCTCCTTCATCGTGAGAGTATCCTGCAGCACGCCCAGTCTTCCCCCCCCGACAGGNNNNNNNN
benign
1,859
Is the genetic mutation found on chromosome 1 at position 9981092, within the gene NMNAT1 (nicotinamide nucleotide adenylyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Leber_congenital_amaurosis_9']
ATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGAGTTTTGGTTGCAGCGAGCTATGATTGTGCCACTGTGCTCCATCCTGGGCAATAGAGTGAGCCTGTGTCTCTGAAAAACAAACCAAAAAAACCCCAAAACATTCACTCAATCAAATTGTTATTGAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAATTGTTATTGAATGCCTCCTCATAGACTCTGCTAGGAGCTGGAGTAGCAACTGTAAGCCTCCTTTCTCCTTCCCTTACGGAGATAATAATATTTATGATATAGGATGTTGAGAAGATTTTTTTTTTCTTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCAATCATGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCACCACACCCGGCTAATTTTCTATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGTCGAGAAGATTTTTAATTTTTTTTAGTCTTCCACAACAGTCATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTATAAATAATGTTAATGATATATTCTAATGGAGCATGTGAGAAAGAGAAATATTCTATTGTTTTGTTGTTTTATAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGGTTTGTATGTTTTAGCAGGACCCACGGACTAGAGTTGATAAGATTCTGTAGCTGAGCAAACCCCTGTGTATTTTTTTTTTTTTAGATGGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCCTGCCACCACGCCTGTCTAATTTGTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCTGGGCCTTATTTTTTTTGTTTTATAGAGATGGGGTCTCACTATTTTGGCCAGGTTGGTCTTGAACTCCTGGCCCCAAGCAGTCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTCAGCCACTATGCCTGGCCTTTATTTTCATTTTATATTGCATACTTGTGGGTGTCTGGAAAATGCCCCTTGTTAGTTGCATGAAGTGAAGGAGAATAAAAGGCACTTGGAGCTTATTTCTCCTGCAGTGGTCTCTAATCTTTGAGGTGTCCTGGGTCTCTTTTGGGAATCTGATTCTCATAAAATAAAAGCTCATAAAAACTGTGAACTGTCATTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGGCACAATCTCGGCTTACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTATCTGGGGTTACAGGCGTGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGTATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCTAGAGCCACCGCACTCGGCCTAAGCCCTCATCCTTGAAAAGCACATACGTATCTTCATTTTGATACAGTGGGTTATTAGAAAAGTAAACCCCTTTCCACTTGGAGGAGGTAGAGGGGAAGAAAAAGCATACCCCAAAGCTCTGTTTTATTCTTCCCAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGGGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGTGGTGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTTAGTAAAAATCAATGGTA
ATTAGTCAGTGTCCTCTGTCAATGGGGTAATAAACAATTCTGATATGAGAGATGAGCAGCACATTAAAACCAGAAGTATTTTCAGTGAAACTAGCTGCAAGGTGGCAGTAATATAGTCGCTTTGTAATAACCAAAATGTTCAGGCTGATCATGGTGGCTCACATCTATAGTCCCAGCACTTTGGGAGTCTGAGGCAGGAGGATTGCTTGAGGCCAGGAGTTCAAGACCAGTGTGGGCAACATAGTGAGACCTCATCTCTCCAAAAAACTAAAGTTAGCTGAACATGGTGGCACGTGCCTGTAGTCGCAGCTATCTGGGAGGCTGAGGCGGTAGGATCACTTGAGCCCAGGAGTTTTGGTTGCAGCGAGCTATGATTGTGCCACTGTGCTCCATCCTGGGCAATAGAGTGAGCCTGTGTCTCTGAAAAACAAACCAAAAAAACCCCAAAACATTCACTCAATCAAATTGTTATTGAGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAGAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCTAGGAGACGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAATTGTTATTGAATGCCTCCTCATAGACTCTGCTAGGAGCTGGAGTAGCAACTGTAAGCCTCCTTTCTCCTTCCCTTACGGAGATAATAATATTTATGATATAGGATGTTGAGAAGATTTTTTTTTTCTTTTGAGGCGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATAGCGCAATCATGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCATGTGCCACCACACCCGGCTAATTTTCTATTTTTAGCAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGTGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGCCCAGTCGAGAAGATTTTTAATTTTTTTTAGTCTTCCACAACAGTCATCTTATGTTGAGAAGACTTAATCAGATAATCCATGTAAAGGATTCAGTGTAATGTGTGGCATATGATAAATAATGTTGGCCAGGCACCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCGCTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGATGAAACCCCGTCACTACTAAAAATACAAAAAAAAATTGGCTGAGCGTGGTGGTGCGCCCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAAGAGAATTGTTTGAACCCAGGAGCCAGAGGTTACAGTGAGCTGAGATCACACACTGCACTCAGCCTGGGCGTCAGAGCAAGACACCATCTCAAAATAATAAATAAATAAATAATGTTAATGATATTCTTTTTTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGTTGGAGTGCAGTGGTGCGGTCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCTATAAATAATGTTAATGATATATTCTAATGGAGCATGTGAGAAAGAGAAATATTCTATTGTTTTGTTGTTTTATAGACACCATCAAGAGAAATTGGAGGCTAGTGACTGTGATCACCAGCAGAACTCACCTACTCTAGAAGGCCTGGAAGGAAGAGGAAGTGGACTGAAACACAAGATTCTAGTCAAAAGAAATCCCTAGAGCCAAAAACAAAAGGTTTGTATGTTTTAGCAGGACCCACGGACTAGAGTTGATAAGATTCTGTAGCTGAGCAAACCCCTGTGTATTTTTTTTTTTTTAGATGGAGTCTCGCTCTATCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGCAGCTGGGACTACAGGTGCCTGCCACCACGCCTGTCTAATTTGTTTGTATTTTTAGTAGAGACGGGGTTGCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCTGGGCCTTATTTTTTTTGTTTTATAGAGATGGGGTCTCACTATTTTGGCCAGGTTGGTCTTGAACTCCTGGCCCCAAGCAGTCCTCCTGCCTTGGCCTCCCAAAGTGTTAGGATTACAGGTGTCAGCCACTATGCCTGGCCTTTATTTTCATTTTATATTGCATACTTGTGGGTGTCTGGAAAATGCCCCTTGTTAGTTGCATGAAGTGAAGGAGAATAAAAGGCACTTGGAGCTTATTTCTCCTGCAGTGGTCTCTAATCTTTGAGGTGTCCTGGGTCTCTTTTGGGAATCTGATTCTCATAAAATAAAAGCTCATAAAAACTGTGAACTGTCATTCTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCGATGGCACAATCTCGGCTTACTGCAACCTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCTCAAGTATCTGGGGTTACAGGCGTGCGCCACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGTATTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCTACCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCTAGAGCCACCGCACTCGGCCTAAGCCCTCATCCTTGAAAAGCACATACGTATCTTCATTTTGATACAGTGGGTTATTAGAAAAGTAAACCCCTTTCCACTTGGAGGAGGTAGAGGGGAAGAAAAAGCATACCCCAAAGCTCTGTTTTATTCTTCCCAGCTGTGCCAAAGGTCAAGCTGCTGTGTGGGGCAGATTTATTGGAGTCCTTTGCTGTTCCCAATTTGTGGAAGAGTGAAGACATCACCCAAATCGTGGCCAACTATGGGCTCATATGTGTTACTCGGGCTGGAAATGATGCTCAGAAGTTTATCTATGAATCGGATGTGCTGTGGAAACACCGGAGCAACATTCACGTGGTGAATGAATGGATCGCTAATGACATCTCATCCACAAAAATCCGGAGAGCCCTCAGAAGGGGCCAGAGCATTCGCTACTTGGTACCAGATCTTGTCCAAGAATACATTGAAAAGCATAATTTGTACAGCTCTGAGAGTGAAGACAGGAATGCTGGGGTCATCCTGGCCCCTTTGCAGAGAAACACTGCAGAAGCTAAGACATAGGAATTCTACAGCATGATATTTCAGACTTCCCATTTGGGGATCTGAAACAATCTGGGAGTTAATAACTGGGGAAAGAAGTTGTGATCTGTTGCCTAAACTAAAGCTTAAAAGTTTAGTAAAAATCGTCTGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGGGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGTGTGTGGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGACCCCAGGTGGTGGAGGTTGCAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTTAGTAAAAATCAATGGTAN
pathogenic
1,979
Variant on chromosome 1, at position 10258485, affecting KIF1B (kinesin family member 1B): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
TAGCATGAGTTCATTCTTTGATACAGTGATATAGTATTTTCATTCATAAAGTATTTGGGTTGATGGAAAGTTTATGTACACATATACATAAATATATACACATATATACATACAGAACATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGGCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTGACCATGTTGGCCAGGCTGGTCTCGAGCTTCTGACCTTAAGTGATCCACCTGTGTTTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGAAATGCCAAATTAAAATTGCTTAGGGTACTGTTAATTTTAAGTTGAATTTTGAGGGAATGGCCAGCAAGATTGGAATGACCACAGAGAAATTGTTTTTTTTTTGTTTGTTTGTTTGTTTTTGGCTAGGCTGATCTTGAACTCCTGACCTCCTGATCCACCTGCCTCGACCTCTCAAAGTGTTGGGATTAAAGGAGTGAGCCACCGTGCCTGGCCAATTTTTTTTTTTTAATTGTAGTAGAGCAATGTGGGTTCTGAACATTTTGAAAGATGATACCGTGCCTCTACTAAAAATTCCAAAAAAAAAAAAAAATTAGGTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGTGAACTGCTTGAACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGAACATGACTGTGTCTCAAAAAAAAAAAAAGGAAAGAGGCTGCAGATCCACAAGGGAAACAAAAGATTACCAGTATTACGAAAATGCAGAGTAGGGCCCTTCCTGGTACCCTTACTCAGTGTGGAACCCCAAATGTTGCTGCTTCTTAGGGATTGTTCATAGAGTTTACTTCTGCATCATTCATCTCTTTGTTACATGTTTTTGGTTTTGTTTTTCCTGTTTTGTATTTTTTTTTAAAGACTGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTACACCTCCTGGGTTCAAGCAGTTCTCCTGCTTCAGCCTCCTGAGTATCTGAGATTACAGGCAGGTGCCACCACACCCGGCTGATTTTTTTAATTTTTAGTAGAGATGGGGTTTCGCTGTGTTGGCCAGGCTGGTCTCGAATTCCTATCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAGAGTGATGGGATTATAGGCATGAGCCACTGTGCCCTGCCCTGGGGAATCGATGTTTTAAACTATTGACAAAGCCTAATTGTCAAGGGAAGGGACTGAGAAGGGGATTGGAAATGCTGTTTCCTGAAAGCTGTGTTTATTGAGAAATAGTCCCAGTAGCTGGAGTGAGTTCAAAGAAGTATTTTTATATGTGGACTTGACCTTTGGTCTTTTATTCTCATTTTCCACTTAAGAAAATCTTGGCTGTGTGAATGAAAGAGTGATACTTTTAAGGTTATAGAAAGTGAAATGTAATCATGCCAGATAATTTTATATAGATATTTTTATGTATGGCTGACCTGGATGACTCTAACAGTGCATGTGTTTGTGAGTGTGTGTGTGTGCATGTGCGTGTATTTAATGAGAAAAGTAAACTTGTGTATAGGAGGCTTAAAAAATGTGTAGGGAATTTTAGGTGACTGTTCTGATTCCAGACACTTTTATTATGGAAGCAATCAAGTAAGTATAGGAAGAAATATTAATAAAAGGTTATTTATTTCTCCTTTTACTCTTTACAGCCCGAAGATCCCTGTTTTGCATCTCAAAACCGTGTGTACAATGACATTGGCAAGGAAATGCTCTTACACGCCTTTGAGGGATATAATGTCTGTATTTTTGCCTATGGGCAGACTGGTGCTGGAAAATCTTATACAATGATGGGTAAACAAGAAGAAAGCCAGGCTGGCATCATTCCACAGGTGAAAAACAAAACAAAACAAAAATCTTCTCTTCATTATTAGTGTTAGTCTTAAATTGCTTTAACAGTTATTTTTATTTGGCGAACATTTATGCGGGGATTGTTTTATGTCAGGCACAAAGATGAACAACCCATTATTTTCCCTCAGAGGAGCTCACAATTGAATGGGAAGGATTGACATGTACACATGTCTGTCATTAAAGGTGGGAAAGTCAGTGTTTTGTAATGATTTTGCCATATATCCAATGCCATATTATTTTGTCATTTGAAAAGTGTTACCAGCTTGTTAAAGCTCTGTTCTAAGTCCTGGAGATGGGGGGATATTGTTGATCTGATTTTTTTTCAAATTCCATGCATAGATTACCTCTGAAGAATGTGATTATTTTTGGTTTTTTTGATAGCCTTATTCGGAGATACTTTCATTTTATTTTCCTAATTTAATACTATGACTTTAAACTTCAAACACTCTGAGATTCTCCCTCTTTTTTTTTTTTTTTAGAACAGTTAGTATTATTGGGTTTGATCCTTTATTGTTTGGGAATGAAGAAGCGTTCTGACATAGATATTTATTTATTTTTATTTTCATTATTCGTTTCACTTAGGATTTAATGGTGAAAGACATAAGTATTTAAAAAGAACTTCATTATTTACTTATTTATTTGAGACAGGGTCTCACTCTGTTGCCCATGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGAGGCCTTGTCCTCCCAGGCTCAAGTGATCCTCCTGCCTTAGCCTCCAGAGTAGCTGGGACTAAAGCCATGTGCCACCACACCTAGCTCATTTTTAAATTAAAAAAAAAAAAAATTTTTTTTTTTTTTTGAGGTGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACAATAGGCACCCACCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCCTGGTCTGGATCTCCTGACCTCAGGCAATCCGCCCACCTCCGCCTCCCAAAGTGCAGGGATTGCAGGCATGAGTCACCATGCCCGGCCTTTAAAATTTTTTTTTTAGAGACAGGGTCTCACCATGTTGTCCAGGCTGGTCTCGAATGGACCTGGGCTCCATCCTGGGCTTGGGATGATCTGCCTGCCTCGACTTCCAGAAGTACTGGGATTACAGGCATGAGCCACTGTGCGGGGCCTAAAAACTTAAGAAAAAAAAAAGATTAAGTGAGAAGATTGTATTTAAAATTTTCCTTTTATAGTCATGCATCACTTAAGGGTGGGGGTACATTTTGAGAAATGCATCATTAGTCGTTAGGTGCTTTTGTCATTGTACAGATATCATAGAGTGTACTTACACAAACCCTGGAAGGTGTAAACTGCTCCACACCTAGACTGCGTTGTATAGCCTGTTGCTCCAAGGCTATAAACTTGTGTAGCATGCTACTGTACTGAATACTACAGGCAATTATAATAGGATGGTAAGTATTTGTATATCTAAACATAGAAAAGTACATTAAAAATATGATATAAAAGATTTGAAATGGCACACCTGCATAGTGCTCTTACACTGGAGCTTGCAGGGCTGGAAGTTGCTCTGGGTGAGTCAGTGAGCAAGTGGTGAGTAAATGTGAAGGCCTAGGACATTGCTTTGCAGTATTGTAGACTTTATAAATGCTGCACACTTAGGCTACACTAAATTTAGTTTTAAAAACAGTTTCCTTTCAATAATTAACCTTAGTTAAATTACTATAACTTTTTTACTTTATAAACTTTAAAATTT
TAGCATGAGTTCATTCTTTGATACAGTGATATAGTATTTTCATTCATAAAGTATTTGGGTTGATGGAAAGTTTATGTACACATATACATAAATATATACACATATATACATACAGAACATATTTAGTTTACACCAAATTTATACTGAATGTACACTAAATTTATACTGATTTAGACATTTCTTGAGGATTTATTTATCAGTATCTTAGGATCCTCATTACCAACATTATTGCCCATTGATCTTAGGAAATGCCAAATAATAATAATAATTATTATTATTATTATTTTTCTTCTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGTGCCATCTTGGCTCACTGCAACCTCCGCCTCCGAGGTTCAAGCGATTCTCCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGGCACTATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTGACCATGTTGGCCAGGCTGGTCTCGAGCTTCTGACCTTAAGTGATCCACCTGTGTTTGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCTGGAAATGCCAAATTAAAATTGCTTAGGGTACTGTTAATTTTAAGTTGAATTTTGAGGGAATGGCCAGCAAGATTGGAATGACCACAGAGAAATTGTTTTTTTTTTGTTTGTTTGTTTGTTTTTGGCTAGGCTGATCTTGAACTCCTGACCTCCTGATCCACCTGCCTCGACCTCTCAAAGTGTTGGGATTAAAGGAGTGAGCCACCGTGCCTGGCCAATTTTTTTTTTTTAATTGTAGTAGAGCAATGTGGGTTCTGAACATTTTGAAAGATGATACCGTGCCTCTACTAAAAATTCCAAAAAAAAAAAAAAATTAGGTGGGCTTGGTGGCGGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGTGAACTGCTTGAACCCAGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGATGGAACATGACTGTGTCTCAAAAAAAAAAAAAGGAAAGAGGCTGCAGATCCACAAGGGAAACAAAAGATTACCAGTATTACGAAAATGCAGAGTAGGGCCCTTCCTGGTACCCTTACTCAGTGTGGAACCCCAAATGTTGCTGCTTCTTAGGGATTGTTCATAGAGTTTACTTCTGCATCATTCATCTCTTTGTTACATGTTTTTGGTTTTGTTTTTCCTGTTTTGTATTTTTTTTTAAAGACTGAGTCTCGCTCTGTTGCCTAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTACACCTCCTGGGTTCAAGCAGTTCTCCTGCTTCAGCCTCCTGAGTATCTGAGATTACAGGCAGGTGCCACCACACCCGGCTGATTTTTTTAATTTTTAGTAGAGATGGGGTTTCGCTGTGTTGGCCAGGCTGGTCTCGAATTCCTATCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAGAGTGATGGGATTATAGGCATGAGCCACTGTGCCCTGCCCTGGGGAATCGATGTTTTAAACTATTGACAAAGCCTAATTGTCAAGGGAAGGGACTGAGAAGGGGATTGGAAATGCTGTTTCCTGAAAGCTGTGTTTATTGAGAAATAGTCCCAGTAGCTGGAGTGAGTTCAAAGAAGTATTTTTATATGTGGACTTGACCTTTGGTCTTTTATTCTCATTTTCCACTTAAGAAAATCTTGGCTGTGTGAATGAAAGAGTGATACTTTTAAGGTTATAGAAAGTGAAATGTAATCATGCCAGATAATTTTATATAGATATTTTTATGTATGGCTGACCTGGATGACTCTAACAGTGCATGTGTTTGTGAGTGTGTGTGTGTGCATGTGCGTGTATTTAATGAGAAAAGTAAACTTGTGTATAGGAGGCTTAAAAAATGTGTAGGGAATTTTAGGTGACTGTTCTGATTCCAGACACTTTTATTATGGAAGCAATCAAGTAAGTATAGGAAGAAATATTAATAAAAGGTTATTTATTTCTCCTTTTACTCTACAGCCCGAAGATCCCTGTTTTGCATCTCAAAACCGTGTGTACAATGACATTGGCAAGGAAATGCTCTTACACGCCTTTGAGGGATATAATGTCTGTATTTTTGCCTATGGGCAGACTGGTGCTGGAAAATCTTATACAATGATGGGTAAACAAGAAGAAAGCCAGGCTGGCATCATTCCACAGGTGAAAAACAAAACAAAACAAAAATCTTCTCTTCATTATTAGTGTTAGTCTTAAATTGCTTTAACAGTTATTTTTATTTGGCGAACATTTATGCGGGGATTGTTTTATGTCAGGCACAAAGATGAACAACCCATTATTTTCCCTCAGAGGAGCTCACAATTGAATGGGAAGGATTGACATGTACACATGTCTGTCATTAAAGGTGGGAAAGTCAGTGTTTTGTAATGATTTTGCCATATATCCAATGCCATATTATTTTGTCATTTGAAAAGTGTTACCAGCTTGTTAAAGCTCTGTTCTAAGTCCTGGAGATGGGGGGATATTGTTGATCTGATTTTTTTTCAAATTCCATGCATAGATTACCTCTGAAGAATGTGATTATTTTTGGTTTTTTTGATAGCCTTATTCGGAGATACTTTCATTTTATTTTCCTAATTTAATACTATGACTTTAAACTTCAAACACTCTGAGATTCTCCCTCTTTTTTTTTTTTTTTAGAACAGTTAGTATTATTGGGTTTGATCCTTTATTGTTTGGGAATGAAGAAGCGTTCTGACATAGATATTTATTTATTTTTATTTTCATTATTCGTTTCACTTAGGATTTAATGGTGAAAGACATAAGTATTTAAAAAGAACTTCATTATTTACTTATTTATTTGAGACAGGGTCTCACTCTGTTGCCCATGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGAGGCCTTGTCCTCCCAGGCTCAAGTGATCCTCCTGCCTTAGCCTCCAGAGTAGCTGGGACTAAAGCCATGTGCCACCACACCTAGCTCATTTTTAAATTAAAAAAAAAAAAAATTTTTTTTTTTTTTTGAGGTGGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCCATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACAATAGGCACCCACCACTATGCCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCATGTTGGTCCTGGTCTGGATCTCCTGACCTCAGGCAATCCGCCCACCTCCGCCTCCCAAAGTGCAGGGATTGCAGGCATGAGTCACCATGCCCGGCCTTTAAAATTTTTTTTTTAGAGACAGGGTCTCACCATGTTGTCCAGGCTGGTCTCGAATGGACCTGGGCTCCATCCTGGGCTTGGGATGATCTGCCTGCCTCGACTTCCAGAAGTACTGGGATTACAGGCATGAGCCACTGTGCGGGGCCTAAAAACTTAAGAAAAAAAAAAGATTAAGTGAGAAGATTGTATTTAAAATTTTCCTTTTATAGTCATGCATCACTTAAGGGTGGGGGTACATTTTGAGAAATGCATCATTAGTCGTTAGGTGCTTTTGTCATTGTACAGATATCATAGAGTGTACTTACACAAACCCTGGAAGGTGTAAACTGCTCCACACCTAGACTGCGTTGTATAGCCTGTTGCTCCAAGGCTATAAACTTGTGTAGCATGCTACTGTACTGAATACTACAGGCAATTATAATAGGATGGTAAGTATTTGTATATCTAAACATAGAAAAGTACATTAAAAATATGATATAAAAGATTTGAAATGGCACACCTGCATAGTGCTCTTACACTGGAGCTTGCAGGGCTGGAAGTTGCTCTGGGTGAGTCAGTGAGCAAGTGGTGAGTAAATGTGAAGGCCTAGGACATTGCTTTGCAGTATTGTAGACTTTATAAATGCTGCACACTTAGGCTACACTAAATTTAGTTTTAAAAACAGTTTCCTTTCAATAATTAACCTTAGTTAAATTACTATAACTTTTTTACTTTATAAACTTTAAAATTTNN
benign
2,005
Does the variant on chromosome 1 at location 10267565 affecting gene KIF1B (kinesin family member 1B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
TGAGCCACCATGCCCAGCCTTTAACTGATTTTAAAACACAAATTAAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCTGCACTTTGGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTGGTGAGACCCTGTCTCTGCAAAAAAAAATTTTTTTTAATTAGCTAGGCATGGTGGCACGTGCCTGTAGTCCCAGTTACTCCAGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTTGAGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGATACAGTCTCAAAAAATATATAAAAATAAAATACAGTATAAAAATACAGTTAGAGACTGAATGAAAGAAAAAGGCAATAGAAATGGAATTAAGATTCCATTCCAGATACTCTGAAAACATGTCCATAGACATTTAAAGTTTAAAAATGCAGGAGCTGTAATGTAAGCTTGAATAGCTCCATGATACAGAAGGATCTGTTTCCTGGGTAGCATCGTAATGTGGCCTATTGTGATGAATTTACCCTAGTTCAGAGCCTTGTTTGCTTAGAAGTCTGATTTTGTAGATTCATCAAGAAAAGGACTATCCTTACAAGTTAAGACTTGAGTAAAGCTCATTTGACTGATGTTATGAAACCAACTTGTTGGTTTGTTACTTTACCATGAGAAATAACTATTACTAAGGCTAGAACACTCAAGCCATTCGCAAGACTATTTAATATATTTCTGTGGACAGACCTCGCTGTTGGAAGCCTGTTGGTTGTTTGGTGTGCATGGAATTAGAAGGAGAGGAGTTGCTTAGATACATGTTTAATTGCCCCAGGTTAAGAAATGATAGCTTAATGCATTAATCACCATGATCGAATGGTCCTGCCAATGAGACAAGAATTTATGAAGTGTATTGTCTGAGGCTTCTTTCTCCCTCACAAATCTTGGATAGGTCCTGCCACCACCAGCTTTCATGCTGGTCAACCCTCATCCCTTCTGGAGGATACATCGTCCATAGTTAGTAACAGTGTGGTGAGCCTTAAAGAATTAGCATCACCCGTCTGTTTTGTCTTCTCTGCTCTGTAATATTGATATTGTTCCTTGGTTTTAACTCTAATAGAAATCTTATTTCCGAGTTCTTGGAGTAACCTCAATGCAAATCCCAGTTACTGACAACAGTATACATTTTAAAAAACATTGATAACTGATAAATTGCTACTAAAATATCTTTTAGCTGTCACTACATTCCAGAGATAATCTGTTTACCTCTCCCTTACAGAGAAAGTCTGAAGGCTGGTTCTAACCTATTCAGTGTAATTACCTGTGCGTATTGTTAATAGAATAAAAGGGCCTAGAGTTACGGCATTTCACTTTGTAAAGGTTGCTGATCTCTAATCTTAGAGCTTTTAATAAAAGTTAAAAAAATTTTTTTTCTGTATGTGATTTCTTTTGTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTATTAAGACAGAGCCTCACTCTGTCACCGAGGCTGAAGTGCAGGGGTGTGATATCGGCTCACTCTAACCTCCACCTCCCAGGTACAGGCGATTTCTCCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACGCCTGGCTCCTTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTCGTAGTTCGAGTGATCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTTCTGTATGTGATTTCTTTTTCACTCTAATTCACTTTACTAATTTGTTCATAGGTGAGCTACATGGAAATTTACTGTGAAAGAGTACGAGATTTGCTGAATCCAAAAAACAAGGGTAATTTGCGTGTGCGTGAACACCCACTTCTTGGACCCTATGTGGAGGATCTGTCCAAGTTGGCAGTTACTTCCTACACAGACATTGCTGACCTCATGGATGCTGGGAACAAAGCCAGGTATGGTAGGAAATAGAGTAATGACTGAGGTCTTTGGCACCTTTTGAGGTCCTTTTTTCCCAGTTAAGGGTTTGAGGCCACATTTATAGCTATGAAAGTTGCTTTAATTGTGGAGTCCTCTGATCCTTTGACTGTGCTGTAACAGTGAGGGCTTCAGAGTGTTAAGTATCTTCTCATCTAAACAGTACATTGCTGAAACATGTTAGAGCTCTCATTGAGTTTTACTCTTAGGTTTTGATCAAGTCATGGTAAAATGTTAGTTATCATGTATATATGCGGCTGTGGTAGTAATTGATTCTGGAATAAATGAGCACCAATAAAGAATAAAAATTAAATGCTTCATTGGTTTCTAAAGGGATAGCTGGAGTATGAAAAATGATTCTGATGGGGTGCCTTTGGAATTGGAGAGTAACTTGATGGGCTCACAAATAAGGCAGTATTGAGAGCAATTGTGTAAGTGACAATCTTGCAATCTGTGAATAAGTTTAAGACTATTGCTTGTGATTGTTATGCTTATAATGTGGAGCCTGCTGTCCATTTCAACTCTCATCTAAGAATTCCCTTGTCACGTGGTCACCTTTATGTTTATTTAGGACAGTGGCAGCTACAAACATGAATGAAACAAGTAGCCGTTCCCACGCTGTGTTTACGATTGTTTTCACCCAGAAGAAACACGATAATGAGACCAACCTTTCCACTGAGAAGGTAGGAGAGTTTCAGTCTCTAGGCTTGAGTTGTGAAGGATGGAGATTTTGAGAAGTCCCTTTTGTTGCCCTCTGCTTTTTGTGGAAGGTTGGGTGTTGGGGGGTGCTCTTTTACTTAATGGAGGGTGTTTTATACCTCTGCTTATCATTTTTCTTCCACCCTACACCAGTTTTCTGTATAGGTTCTTAAATGAAGTTGTAAGATAGAGAATAGGGTTAAGAAAAAAACAATCCAGGACTTTGGGTCTCAAAAACTACTCAATACAAGACAGTTAAGCAGTCTTGCAGGAGAAAGTTCTTTCTTTTCTTCTTCTTGACTGAACCTTTTTATTACCTTATTAGCTGCCTTTGGTATGTGTATTCTTTTTTTTTTTTTTTTTGAGCTATGATAATGTTATAGTGGGATTAAATGTTTAAGCAAATGATATGTTTCATTCCTGGAAAATAACTCCACAACAGTTCTGGTGTTCTTCAAATACCTTTCTTTGCTTATTGATTTTTCATTTTCTATAGTGGTTAAATGTCACAGACTTTAGCGTTGGATTGCTTGCTTTGAATTCTGATTCTGCCACTCTTCAGCTATATTACTTTGGGCAAACTACTTAACCTCTTTGTTCCTCAGTTTCCCCATCCATAACAGCCTGATAGGATTGTTAAAAAGATTAAGCGTTAATATAGGTTAAGTGCATACAATAATGTCTGGCACAGAGTAGCCACTCAATAATGTTAATTTTATTGTTATTGTTAGTAATAAAAAATTTATGTTGAATACTACTCTATCTGCATCCCTAAGAAGGATGCACCTGGATTTTTAAGCTTCAAGTTAGGTTTATTGTACTGGCAATTATAAAAGATCCTTTGCCTTATAAAATGAGTACTTTAGACACCACTGTCACTAATTATTAAAATCACCTTTTATTTGTTGACTTATTTCTAGCTGAAAATGATTTTTAAAAATATACTCCTGCTGGGCCGGGTATGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAGTTTGGGACCAGCCTGGCCAGCATGGTGAAACCCAGTCTCTACTAAAAATATAAAAAAATTGGCTGTGCGTGGTGGCATGCGCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCATGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAACACACTCCTACTGGGCATGGTGGCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGG
TGAGCCACCATGCCCAGCCTTTAACTGATTTTAAAACACAAATTAAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCTGCACTTTGGGAGGCCAAGATGGGAGGATTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACGTGGTGAGACCCTGTCTCTGCAAAAAAAAATTTTTTTTAATTAGCTAGGCATGGTGGCACGTGCCTGTAGTCCCAGTTACTCCAGAGGCTGAGGCAGGAGGATTGCTTAAGCCCAGGAAGTCGAGGCTGCAGTGAGCCATGTTTGAGCCACTGCACTCCAGCCTGGGTGACAGAGTAAGATACAGTCTCAAAAAATATATAAAAATAAAATACAGTATAAAAATACAGTTAGAGACTGAATGAAAGAAAAAGGCAATAGAAATGGAATTAAGATTCCATTCCAGATACTCTGAAAACATGTCCATAGACATTTAAAGTTTAAAAATGCAGGAGCTGTAATGTAAGCTTGAATAGCTCCATGATACAGAAGGATCTGTTTCCTGGGTAGCATCGTAATGTGGCCTATTGTGATGAATTTACCCTAGTTCAGAGCCTTGTTTGCTTAGAAGTCTGATTTTGTAGATTCATCAAGAAAAGGACTATCCTTACAAGTTAAGACTTGAGTAAAGCTCATTTGACTGATGTTATGAAACCAACTTGTTGGTTTGTTACTTTACCATGAGAAATAACTATTACTAAGGCTAGAACACTCAAGCCATTCGCAAGACTATTTAATATATTTCTGTGGACAGACCTCGCTGTTGGAAGCCTGTTGGTTGTTTGGTGTGCATGGAATTAGAAGGAGAGGAGTTGCTTAGATACATGTTTAATTGCCCCAGGTTAAGAAATGATAGCTTAATGCATTAATCACCATGATCGAATGGTCCTGCCAATGAGACAAGAATTTATGAAGTGTATTGTCTGAGGCTTCTTTCTCCCTCACAAATCTTGGATAGGTCCTGCCACCACCAGCTTTCATGCTGGTCAACCCTCATCCCTTCTGGAGGATACATCGTCCATAGTTAGTAACAGTGTGGTGAGCCTTAAAGAATTAGCATCACCCGTCTGTTTTGTCTTCTCTGCTCTGTAATATTGATATTGTTCCTTGGTTTTAACTCTAATAGAAATCTTATTTCCGAGTTCTTGGAGTAACCTCAATGCAAATCCCAGTTACTGACAACAGTATACATTTTAAAAAACATTGATAACTGATAAATTGCTACTAAAATATCTTTTAGCTGTCACTACATTCCAGAGATAATCTGTTTACCTCTCCCTTACAGAGAAAGTCTGAAGGCTGGTTCTAACCTATTCAGTGTAATTACCTGTGCGTATTGTTAATAGAATAAAAGGGCCTAGAGTTACGGCATTTCACTTTGTAAAGGTTGCTGATCTCTAATCTTAGAGCTTTTAATAAAAGTTAAAAAAATTTTTTTTCTGTATGTGATTTCTTTTGTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTTTTTATTAAGACAGAGCCTCACTCTGTCACCGAGGCTGAAGTGCAGGGGTGTGATATCGGCTCACTCTAACCTCCACCTCCCAGGTACAGGCGATTTCTCCTGCCTTAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACGCCTGGCTCCTTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGACTGGTCTCGAACTCGTAGTTCGAGTGATCTCAAGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTTCTGTATGTGATTTCTTTTTCACTCTAATTCACTTTACTAATTTGTTCATAGGTGAGCTACATGGAAATTTACTGTGAAAGAGTACGAGATTTGCTGAATCCAAAAAACAAGGGTAATTTGCGTGTGCGTGAACACCCACTTCTTGGACCCTATGTGGAGGATCTGTCCAAGTTGGCAGTTACTTCCTACACAGACATTGCTGACCTCATGGATGCTGGGAACAAAGCCAGGTATGGTAAGGAAATAGAGTAATGACTGAGGTCTTTGGCACCTTTTGAGGTCCTTTTTTCCCAGTTAAGGGTTTGAGGCCACATTTATAGCTATGAAAGTTGCTTTAATTGTGGAGTCCTCTGATCCTTTGACTGTGCTGTAACAGTGAGGGCTTCAGAGTGTTAAGTATCTTCTCATCTAAACAGTACATTGCTGAAACATGTTAGAGCTCTCATTGAGTTTTACTCTTAGGTTTTGATCAAGTCATGGTAAAATGTTAGTTATCATGTATATATGCGGCTGTGGTAGTAATTGATTCTGGAATAAATGAGCACCAATAAAGAATAAAAATTAAATGCTTCATTGGTTTCTAAAGGGATAGCTGGAGTATGAAAAATGATTCTGATGGGGTGCCTTTGGAATTGGAGAGTAACTTGATGGGCTCACAAATAAGGCAGTATTGAGAGCAATTGTGTAAGTGACAATCTTGCAATCTGTGAATAAGTTTAAGACTATTGCTTGTGATTGTTATGCTTATAATGTGGAGCCTGCTGTCCATTTCAACTCTCATCTAAGAATTCCCTTGTCACGTGGTCACCTTTATGTTTATTTAGGACAGTGGCAGCTACAAACATGAATGAAACAAGTAGCCGTTCCCACGCTGTGTTTACGATTGTTTTCACCCAGAAGAAACACGATAATGAGACCAACCTTTCCACTGAGAAGGTAGGAGAGTTTCAGTCTCTAGGCTTGAGTTGTGAAGGATGGAGATTTTGAGAAGTCCCTTTTGTTGCCCTCTGCTTTTTGTGGAAGGTTGGGTGTTGGGGGGTGCTCTTTTACTTAATGGAGGGTGTTTTATACCTCTGCTTATCATTTTTCTTCCACCCTACACCAGTTTTCTGTATAGGTTCTTAAATGAAGTTGTAAGATAGAGAATAGGGTTAAGAAAAAAACAATCCAGGACTTTGGGTCTCAAAAACTACTCAATACAAGACAGTTAAGCAGTCTTGCAGGAGAAAGTTCTTTCTTTTCTTCTTCTTGACTGAACCTTTTTATTACCTTATTAGCTGCCTTTGGTATGTGTATTCTTTTTTTTTTTTTTTTTGAGCTATGATAATGTTATAGTGGGATTAAATGTTTAAGCAAATGATATGTTTCATTCCTGGAAAATAACTCCACAACAGTTCTGGTGTTCTTCAAATACCTTTCTTTGCTTATTGATTTTTCATTTTCTATAGTGGTTAAATGTCACAGACTTTAGCGTTGGATTGCTTGCTTTGAATTCTGATTCTGCCACTCTTCAGCTATATTACTTTGGGCAAACTACTTAACCTCTTTGTTCCTCAGTTTCCCCATCCATAACAGCCTGATAGGATTGTTAAAAAGATTAAGCGTTAATATAGGTTAAGTGCATACAATAATGTCTGGCACAGAGTAGCCACTCAATAATGTTAATTTTATTGTTATTGTTAGTAATAAAAAATTTATGTTGAATACTACTCTATCTGCATCCCTAAGAAGGATGCACCTGGATTTTTAAGCTTCAAGTTAGGTTTATTGTACTGGCAATTATAAAAGATCCTTTGCCTTATAAAATGAGTACTTTAGACACCACTGTCACTAATTATTAAAATCACCTTTTATTTGTTGACTTATTTCTAGCTGAAAATGATTTTTAAAAATATACTCCTGCTGGGCCGGGTATGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAGTTTGGGACCAGCCTGGCCAGCATGGTGAAACCCAGTCTCTACTAAAAATATAAAAAAATTGGCTGTGCGTGGTGGCATGCGCCTGTGGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCATGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAACACACTCCTACTGGGCATGGTGGCTCACACCTGTAATCCAAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAG
benign
2,037
Gene mutation in KIF1B (kinesin family member 1B) at chromosome 1, position 10297148—is it benign or pathogenic? If pathogenic, specify the disease(s).
benign
TAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAGGTATATTTATTTCCTGTTTTGGTCACTTCGTGTGTTTTCCCCCTCTTAGATAATTGAATAACTAAAGGGAAGGGGTTGAAAAAATTAACGTAATGATTTGCTGTATTTTTTGTCTGAAATAGTTACAAACTATGCTCTCTTTCCAAATAATGTGTTTTTGCCACTGGAGCCAGTTACTATGTAGTTTTTCTCTGAAGACCCTAAATAATTTTTTTTTCCTTTAACAAATATACATTCCTTAGGGATTTTATTTGACTCATGTCTTTATAATACTGTATGAGTTACATTGGTATATCAGTGCTCCTTGTTTCTTATTCTGATGTAGAGAGGTTGATCATATGTGAGGATAGAATTCATAGTTGAAAGCTTCTGATGCAACAAGGCAATACCTTTTTTGTACGTACCAAAGGATATTCTTTGGAATAAAGAGGTTCATTGTTTGTAGTGCTTTCTGTGTCTGAATTTCCCTGGGAAACACTTTCTCTTGTGTTCAGGGTTGGCCAAGCAGATGCTGAGCGGCGCCAGGACATAGTGCTGAGCGGGGCTCACATTAAAGAAGAGCATTGTATCTTCCGGAGTGAGAGAAGCAACAGCGGGGAAGGTGAGCATTCCTGGCTGGAGCTTCAGCAACAACATTTTCATTTTATATTATGAGAAATCCTTAAGACTTTGTATTCTCTGTCTATCAGTAGTACTTTCTTATACAATCTAATTCTGAAAAATGGAGAGACCTGGGCTGCTTATGAATGCAGAGATGGACAAGGCTGCTTTACATGAAAATAGCTTGGACAAAAGAAGCCCTTTTTTACTGCCAAGAACTGAGAAGGACATAGGCAATTAGGCTTGGTCTGGAATGTTAATTATTTAATAGAAAAGTAAGAAAATAGCAGATATCCTGGGTAATAGGAGATTTGAAGGACATTAAGTCAACCCAGCAGAATTTATTTTTATCTAAAAGGGAAGAAAAAGTCAGTCTTGATTTTTGCCTGGGTTATTAACAAAACAACAATTTAATGGTTTTTTTCTGTTATATAAGTCACTCATTCCCTTATCAAAATATTAGCTTCTCAGTCTTTAGTTTCTGGTTATTACCTATATCTCATCCTTACAATTTCTGATGGTTCTGAGTTTTATTGACTGAACCGTCAGAGATCCCTGAAACTAATATTTCCTATCATCTTCTTAGGTTTATCAAATAGAGTTAAATGTTCTTGTGTTAGCCATGGCCACAGATAGCCTCTTCTATTGGGGCTAGTTCTGGTACCCCAAAATGAACTACTGTATAGACAACTTCAGCCACTTGATTGATTGCAGGGATTTATTCTACTTACTGCAAATCCTGATAAGCAACTGCTTTCCATTATTTGATTCCAATAGTTTGTAATGATAACATTAGTTTGTGTTTGTTCCTCTTAGTTATCGTGACCTTAGAGCCCTGTGAGCGCTCAGAAACCTACGTAAATGGCAAGAGGGTGTCCCAGCCTGTTCAGCTGCGCTCAGGTGAGACTGGGAGAGGTTTGCCATCTTCAGCAATGTGCACATGGCTTCTGTGACAACTCTAATTTTTGGCTGTTTAAAGGCTGAAGTAATAGTCAGCATTAGGATTTTTGTTCTTGTAAAAACAACAGCTCTGAAAGCTGTCTTTTCACATTAGGGAGGGGTGAGGTTGTTAAATAGATACTATATATTAAAAAAATTATTTCTTAACCCTATTTTTCTGTTTTGTGCTAGGAAACCGTATCATCATGGGTAAAAACCATGTTTTCCGCTTTAACCACCCGGAACAAGCACGAGCTGAGCGAGAGAAGACTCCTTCTGCTGAGACCCCCTCTGAGCCTGTGGACTGGACATTTGCCCAGAGGGAGCTTCTGGAAAAACAAGGAATTGATATGAAACAAGAGATGGAGAAAAGGTAATGCACAGTTACGCAGCCCATATGACTGTTTCTTCTTTTAAACATGTAATACTAATAGCATTCTTGAATTTTTTTTTTTTTTTTTACTTCTAGGCTACAGGAAATGGAGATCTTATACAAAAAGGAGAAGGAAGAAGCAGATCTTCTTTTGGAGCAGCAGAGACTGGTAGGAGTCCTGAATCTGCTAAACTGTTGGGAAAAGGGCAGCTTGTTCCCATACTTTCCCTGTTCCACAGAGCAGTACTCACCCAAATTGCTTCTGTCTCAATGATACCAAGCACTATTCTTTAATTTCCTTAATGGAGAATGAACTTAAATCTCCCGGTAGCCTTAGCCTGAAAAAATAGTCCACAGAGGTACTCTTTTGGGCTTTTTATGTCTTAAAGCCAAATCTTAACTTCTGTTACAACCAAATACTTTTTAAGGAAATAGAGCTTTTCTGGTAGCCTTTGCCTCTTGATAGTGGTTTTGGAATTTGCTTCAGTGGTGGTTCTTTAAATGATAATTACTCTGAATATTGAATTTGGTGAGAGTTTGCCTTGGTTTTGTTTCTGATCACTTGATAGTACTAATTCTCTGCTCTTGGGCTGACTTTGGGATTGTTCTTACGCTGGGCAGACTTTTTTTTTTTAAGTTAAACTGTGTCTAAAAGTGTTGCTGCACAGTTGCATGTGTTACTCCTTTCCTTATCCCCTGCATGGAGTCTGAATTCTCAATCAGGTTCTCAGTGGCATGTGTGGTAGCGGTGGGAGCAAAGGCTGCATACCCAGCCCGGACAGGACAGAAGGCTTGCTTCCTTTGAGGGAAGGAGGATTTGAGTGAGCAGCTGGAAAGTCTGTTTAAGGTCCCAGCTATTGATACAATACTAATGGCTTCAGCGTTTTATAATGGTAATTGATTTCCCAGATTTGATAGAAACTGAATCTCATGAATAAATAAGTTGATCCATTAGTTAGATTTTCATTTTTAAAGCCAACCAAACAACCAATTTTGGTTAACAAAGCTGTGGTTATAAGAACCTTCTCAGCATTCATTTGATATGTAAGAATAAAGTATAACTAACCTTTGGATACTGTGGATGCAGTTTAGGAAGTTCTCATTTTTTAAGATTCAGTTGTATCTTTCTTTTAAGGTAAGGGGGCATTAGGGAGAAAGTTCAAGCACTGGCTTCTTTCCTTAGTATAAAATACAGCATGTAAACTACAGCCTTCTAGTCATGCTCTGTGCTTTGGAGAAGAAGGGGCTTAGTGCTAAGTGGGCCAGAAACGTGAAGGACTTGAGCACAAGCAACCTTTTCCAGAATACCTCAGTTCTCAGGCATGGGCATGGATTAAACCAGTTAGTTTGTTATCTTGTAAATTATAGTAAAGCCCTAAAAAGAATGGATTGTAAGAATAAATCAAGGGTTTGGGGCAAGATAATAGCAGTGTTACCAACAGAGGCTCTTTAGGAGGCCTTTTTAGCATTAAGTTTTTAATGAAAACGGAAAGAACTAGCTACAATGTGATTAGTGGCTTGAAAGGTTTGTGACACAAGAAGATGTCTTTTATCTTAATAATGTAGTACATTCTAATAACATGCCTCTGATGGTCTGTGAGAGATCAAATGAGGACAGGTGTAATTAAGCTCTATTATTAACAATAATGCCTTGTATTTGTATAGTGCTTTATAATTTACAGAGAGCGTTAACATCCATCAATTTATTTGACCCTCAAAACAACCCTCTTTGTTTACTTATGCATATGTATAAGTAAAATATGTAATATTACCTCCAGTTGAGGAAACCAAAACTTGGCTGGGCGCGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAAGCCTAGGCAGGTGGATCCTGGGACCTCACTTAGAATAACTAAGCACGGTGCTCGCTTCGGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTAAAAAAAAAAAAAAAGAAACAAAAACCACAAAAACAAAACAAAACAAGACAAACAAAAAAAAAGAATAACTAAGCACGGCAGAATAAGGATGCCTGGTGCTATCCATAACCAAGAGTTGGTGATC
TAACCTCAATGAAGACCCACTAATGTCTGAGTGCCTACTTTATTACATCAAAGATGGAATTACAAGGTATATTTATTTCCTGTTTTGGTCACTTCGTGTGTTTTCCCCCTCTTAGATAATTGAATAACTAAAGGGAAGGGGTTGAAAAAATTAACGTAATGATTTGCTGTATTTTTTGTCTGAAATAGTTACAAACTATGCTCTCTTTCCAAATAATGTGTTTTTGCCACTGGAGCCAGTTACTATGTAGTTTTTCTCTGAAGACCCTAAATAATTTTTTTTTCCTTTAACAAATATACATTCCTTAGGGATTTTATTTGACTCATGTCTTTATAATACTGTATGAGTTACATTGGTATATCAGTGCTCCTTGTTTCTTATTCTGATGTAGAGAGGTTGATCATATGTGAGGATAGAATTCATAGTTGAAAGCTTCTGATGCAACAAGGCAATACCTTTTTTGTACGTACCAAAGGATATTCTTTGGAATAAAGAGGTTCATTGTTTGTAGTGCTTTCTGTGTCTGAATTTCCCTGGGAAACACTTTCTCTTGTGTTCAGGGTTGGCCAAGCAGATGCTGAGCGGCGCCAGGACATAGTGCTGAGCGGGGCTCACATTAAAGAAGAGCATTGTATCTTCCGGAGTGAGAGAAGCAACAGCGGGGAAGGTGAGCATTCCTGGCTGGAGCTTCAGCAACAACATTTTCATTTTATATTATGAGAAATCCTTAAGACTTTGTATTCTCTGTCTATCAGTAGTACTTTCTTATACAATCTAATTCTGAAAAATGGAGAGACCTGGGCTGCTTATGAATGCAGAGATGGACAAGGCTGCTTTACATGAAAATAGCTTGGACAAAAGAAGCCCTTTTTTACTGCCAAGAACTGAGAAGGACATAGGCAATTAGGCTTGGTCTGGAATGTTAATTATTTAATAGAAAAGTAAGAAAATAGCAGATATCCTGGGTAATAGGAGATTTGAAGGACATTAAGTCAACCCAGCAGAATTTATTTTTATCTAAAAGGGAAGAAAAAGTCAGTCTTGATTTTTGCCTGGGTTATTAACAAAACAACAATTTAATGGTTTTTTTCTGTTATATAAGTCACTCATTCCCTTATCAAAATATTAGCTTCTCAGTCTTTAGTTTCTGGTTATTACCTATATCTCATCCTTACAATTTCTGATGGTTCTGAGTTTTATTGACTGAACCGTCAGAGATCCCTGAAACTAATATTTCCTATCATCTTCTTAGGTTTATCAAATAGAGTTAAATGTTCTTGTGTTAGCCATGGCCACAGATAGCCTCTTCTATTGGGGCTAGTTCTGGTACCCCAAAATGAACTACTGTATAGACAACTTCAGCCACTTGATTGATTGCAGGGATTTATTCTACTTACTGCAAATCCTGATAAGCAACTGCTTTCCATTATTTGATTCCAATAGTTTGTAATGATAACATTAGTTTGTGTTTGTTCCTCTTAGTTATCGTGACCTTAGAGCCCTGTGAGCGCTCAGAAACCTACGTAAATGGCAAGAGGGTGTCCCAGCCTGTTCAGCTGCGCTCAGGTGAGACTGGGAGAGGTTTGCCATCTTCAGCAATGTGCACATGGCTTCTGTGACAACTCTAATTTTTGGCTGTTTAAAGGCTGAAGTAATAGTCAGCATTAGGATTTTTGTTCTTGTAAAAACAACAGCTCTGAAAGCTGTCTTTTCACATTAGGGAGGGGTGAGGTTGTTAAATAGATACTATATATTAAAAAAATTATTTCTTAACCCTATTTTTCTGTTTTGTGCTAGGAAACCGTATCATCATGGGTAAAAACCATGTTTTCCGCTTTAACCACCCGGAACAAGCACGAGCTGAGCGAGAGAAGACTCCTTCTGCTGAGACCCCCTCTGAGCCTGTGGACTGGACATTTGCCCAGAGGGAGCTTCTGGAAAAACAAGGAATTGATATGAAACAAGAGATGGAGAAAAGGTAATGCACAGTTACGCAGCCCATATGACTGTTTCTTCTTTTAAACATGTAATACTAATAGCATTCTTGAATTTTTTTTTTTTTTTTTTACTTCTAGGCTACAGGAAATGGAGATCTTATACAAAAAGGAGAAGGAAGAAGCAGATCTTCTTTTGGAGCAGCAGAGACTGGTAGGAGTCCTGAATCTGCTAAACTGTTGGGAAAAGGGCAGCTTGTTCCCATACTTTCCCTGTTCCACAGAGCAGTACTCACCCAAATTGCTTCTGTCTCAATGATACCAAGCACTATTCTTTAATTTCCTTAATGGAGAATGAACTTAAATCTCCCGGTAGCCTTAGCCTGAAAAAATAGTCCACAGAGGTACTCTTTTGGGCTTTTTATGTCTTAAAGCCAAATCTTAACTTCTGTTACAACCAAATACTTTTTAAGGAAATAGAGCTTTTCTGGTAGCCTTTGCCTCTTGATAGTGGTTTTGGAATTTGCTTCAGTGGTGGTTCTTTAAATGATAATTACTCTGAATATTGAATTTGGTGAGAGTTTGCCTTGGTTTTGTTTCTGATCACTTGATAGTACTAATTCTCTGCTCTTGGGCTGACTTTGGGATTGTTCTTACGCTGGGCAGACTTTTTTTTTTTAAGTTAAACTGTGTCTAAAAGTGTTGCTGCACAGTTGCATGTGTTACTCCTTTCCTTATCCCCTGCATGGAGTCTGAATTCTCAATCAGGTTCTCAGTGGCATGTGTGGTAGCGGTGGGAGCAAAGGCTGCATACCCAGCCCGGACAGGACAGAAGGCTTGCTTCCTTTGAGGGAAGGAGGATTTGAGTGAGCAGCTGGAAAGTCTGTTTAAGGTCCCAGCTATTGATACAATACTAATGGCTTCAGCGTTTTATAATGGTAATTGATTTCCCAGATTTGATAGAAACTGAATCTCATGAATAAATAAGTTGATCCATTAGTTAGATTTTCATTTTTAAAGCCAACCAAACAACCAATTTTGGTTAACAAAGCTGTGGTTATAAGAACCTTCTCAGCATTCATTTGATATGTAAGAATAAAGTATAACTAACCTTTGGATACTGTGGATGCAGTTTAGGAAGTTCTCATTTTTTAAGATTCAGTTGTATCTTTCTTTTAAGGTAAGGGGGCATTAGGGAGAAAGTTCAAGCACTGGCTTCTTTCCTTAGTATAAAATACAGCATGTAAACTACAGCCTTCTAGTCATGCTCTGTGCTTTGGAGAAGAAGGGGCTTAGTGCTAAGTGGGCCAGAAACGTGAAGGACTTGAGCACAAGCAACCTTTTCCAGAATACCTCAGTTCTCAGGCATGGGCATGGATTAAACCAGTTAGTTTGTTATCTTGTAAATTATAGTAAAGCCCTAAAAAGAATGGATTGTAAGAATAAATCAAGGGTTTGGGGCAAGATAATAGCAGTGTTACCAACAGAGGCTCTTTAGGAGGCCTTTTTAGCATTAAGTTTTTAATGAAAACGGAAAGAACTAGCTACAATGTGATTAGTGGCTTGAAAGGTTTGTGACACAAGAAGATGTCTTTTATCTTAATAATGTAGTACATTCTAATAACATGCCTCTGATGGTCTGTGAGAGATCAAATGAGGACAGGTGTAATTAAGCTCTATTATTAACAATAATGCCTTGTATTTGTATAGTGCTTTATAATTTACAGAGAGCGTTAACATCCATCAATTTATTTGACCCTCAAAACAACCCTCTTTGTTTACTTATGCATATGTATAAGTAAAATATGTAATATTACCTCCAGTTGAGGAAACCAAAACTTGGCTGGGCGCGGTGGGTCACGCCTGTAATCCCAGCACTTTGGGAAGCCTAGGCAGGTGGATCCTGGGACCTCACTTAGAATAACTAAGCACGGTGCTCGCTTCGGCAGCACATATACTAAAATTGGAACGATACAGAGAAGATTAGCATGGCCCCTGCGCAAGGATGACACGCAAATTCGTGAAGCGTTCCATATTTAAAAAAAAAAAAAAAGAAACAAAAACCACAAAAACAAAACAAAACAAGACAAACAAAAAAAAAGAATAACTAAGCACGGCAGAATAAGGATGCCTGGTGCTATCCATAACCAAGAGTTGGTGAT
benign
2,116
Is the variant located on chromosome 1 at position 10339753, gene KIF1B (kinesin family member 1B), benign or pathogenic? If pathogenic, specify the disease(s) linked.
benign
TGTCCTGGAATGCAACAGGGTTCCCTGGCAGGAGGAGCATGCTGCACATCCTGCTGCAGGGCTCTGCTGTGAGCGGTCCCCCTTTACCAGGAATGTAGGGTCTGATCACATAAGCCTGTTGATGAGTCTTTCTAGTCCTCTTCATGTTGAAATGTCTTATTAATAAGCCTGAAAGCAATGACTTATCTAGCTAGCAATTACGCCTATTTAATACTCGGGAAAAGGAAAATTTAAACAATGTAAAGAAGGATAAATTCTACATCAACTGAAAAAAGCTAGTATGTAGGGAAGATGTGATACCTCTCATTTCTCATCTACATAGGACTTGCTCTTTCCCGCGGCCCTCTCAAACCCTGTGCTCTGGATGCTTTCTTCTCAAGACTGCCCCAGGAAAACATTTTTTTGTGAATCTTCAGTTTTAATACCTCCAAACTTCAATTTGTCTTTTCAGTACTTGGAAAGGGCCACAGTACAAGAGACTGAAGTGTGACCCCTCCATACCTACCGCCCTCAGTTTGCCACTGGTGCCACCAAGAGGCTGCTTTGGGTTCTGCCATCCCTCTCCCCTCAGAATGTGCCTTGGCCGTCCCATGGGTCCTAGTGCAGTTTATAAAGCTTTTGTATAGGTTTTATCACAGAAAATTGAGTCAAATGTGATTTAAATTAAATGTGATCACTATATAGTAAGCCACTAATATCATTTGCTACAAGTCATAGTTGTTGGAATATTACCCATTGAGCATTGATTTCACCTATTTAATGTGTTTTCACTCATACCCTCAAACTTAGGGCAGGATAGTGTTCACCAGATGAATCTGTTTTTTGGAACTGTTGCTATTATTCTAATCAGGCAACTGATACGTTTTATGGAAAACATCTATTTGGTTAACTGATGTCTGAAGTGACAATAATAGTGAGTTGACCTTTGTCCTACAATCTCCTAAAAAGAGCAGCATCTCTACCTGGTGTTAGCTCTGGGGAAAAGGGCATGTTGCTTCTGTTGAAAGCAGCCTCAAAGGCGTCCTGTGTTTTTATAGTCGCTCCTCTGGCCTGTGCCGGGAAGGTATGGCTGCAGAGCACTGTGAATGAGTTCACCTGTCGTCAGGGAACCCCAGGAATGCTGCGGTGCCAGCAATACAGGAATCAGGGATTTGGAGCACTTGGCAAAAGCATGCTAGTGTTCTCAGACGGGTGAACTAATTTGGAAGACAACAAGTTCATATTACCAGTCTGTCTGTCCCCCCAGTTGAAAATAGTTTCTTTTTCTCCATTTTTTCTTGATGGAAGGGGTGTCCTTCTGATGGATTTTTCTATCTGGCAGTAAATCTTTGTGTTGGGTCCTCTTTAACTGTGCAGTTCTTTTTATTTCAGACTAATAATAGGGAGAGAGAGAGAGAGAACGATAACATCTCACTATCTGTGAAAATAACTAAATATAGCCCATTGTTTTAACAAATCTTTCCAGAGTATCTTCTGTGTGTCGAGACCTGTGGGAAAACGCTTGCTGTCTGGGGGAGAGAGGCATATAAATACATTATTACAGTGAAATCATTGCTATTAAGGAAAAAAACATTACTAGTAATGTGGGAACACAAAGCTGCCAGGGTAAGTCAGGAAAGACTGCCTGGAAGAGGTGACATTTGAATCCACAACAGACTCTTATGTAACTATGCCATCCACAGGCTCTCGCACTAACTGTGGAAGCTTGAGTCTGCTAAATTTTGTCTGTACAAAATGACATTGTTTTTATTTTTAGTAAAAAGCTTTTACAAAGGAAGAGGAGTTAATTGAATGTACTTCTTCACTCTCTCTAAAGCATTCTTGCATATACCTCCATATAGCTAAGTGATCAGGGTCAGTTAATTTTTCAGTCATTTTTGAAATAAAATCTAAAATGCCCTCTGTGCAATATGGAAAAGGTTCTTGACAAGGAAAGTAAATAACTTAAAGAATCTGCTTAAGTGGAATGCTTCTTTCTGTAGGATCCACATTGGGCTCTTGAAAGAGATTCTGATAAAACCGTTTAATGCATTGTTCACGAGTCTTTTTATTTTTTTTATGAAGCTTTTTGCATCGCCATGATGAAGCATTCTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCCTGGCCTTTTATCATGTGCAGAATGTAAGTGACATGGACCTTTTTGCCAAACATATGTTTTTCTGGTACCTTGGCTTTCTCAGCCCGGGAAGGGTGATAAGAAGAGGTACAAGTCACTGGCTGTGCAGGGGGAGAGTAGACAATAGAGGGCGTGGCTAGAGTGGTGAGGTCATCCACAGCGGCCTGAGCAGCAAGCCTTCTTGTCTGTGTTACAGTGGGCCTAGTGAATGTGGGTTCGTCTGCCAATAAAATCTTCCATCAGTTTGAATGCAATGAGTTGTTTTAGTGTTTCTGTCCTAGAAAAATAAGCATGCTTAATAAGAGTTTTATTAAAGTGAATGCATTGTCCTTTAAACCCTAAGATACTTATGTTGCTCGATTGCAAATAACATAAAAAATATCAAATACCTTCTGTAGCTAAATTAAGATTTAGATCTGTTTTCCTTGCAACTGATAGTATAATTAACACATTAATGCCCTTTACAACTGTATTCCTACGTGGAGTAAGAAAACAGACCCTTCCCTCTCTTACGTGAAATTTCATTCAAACTCTATTCCAAAGTCATTATCCTCATCACAATAGCTAATATTCACTGAGAGTTTATTTTGTGTTAGTCACTGTTCTGAGAGTTTTTGTGTAATTTAATCTTTACCTTTATACCATAGATTAAGATAATCCCTGTGTTAGCTGAGATGACTGAAGCATAGAGCAATTAAAGTCACTCATCAGGCTGGGCGCAGTGGCTCATACCTGTCCCGGCACTCTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAATCCCATCTGAGACACGAGAATTGCTTGAACCCAGGATGGGGGGGTTGCAGTGAGTTGAGATTGTGCCACTGCACTCCAGCCTGGGCAAGAAAGCGAGACTCCCATCTCAAAAAAAATAAAAAAGTAATAATAAAAATAAAGTTACTCATCAGTGTTACAAGAGGCAGAGATAGGACTTAAGCTCAGAGAAATTTAGCTCTGGTATTCAGGATATTCACTACTACATGAAACTGTCTCTCATTCTCTTGCTAACCATGTCTGCTCTCTAAAGTAAGAGAGGAAAGGAGAACTTCAAAGATGGAACAAGCAAACACAAAATATGCCATCTTCTTTTTCATGTTGGTATAAATATAAGCAAGCATGTATCTGATAAACTTTGATCAGCTGCTGTGCACAAGGATTGTGCCTGACAACTGGGGAATGCAGATGAATCTCAGATGCTCCCAGTGAGCTTCGAATTACGATAGGGGAAATAAAATGCATACATAAACACCAGTCATGCAAAGATGAACATGAGAAAATATTCACTAAATGCAGTGGGAGTGGAGAAAGGGAAAGTTATTTCTATTAATGGAAAGCTATTTTAAGTTACTTTTTGTTGGGGAGGATAGTTGGGTGGAGAAAGGGGATAGGAAGCTCCCTGAAGGATGTAGTATAAGCAAGAAAAGGTGTGTCAAACTTGGCATTGTGCCTGGCACATAGGCCATAGTCAGTACATGCATGGATGTGCTGGAAGGGCCTTCCAGGCAGGGTTGCAGCCTGGGCCAGTCCTTGGCACAGCTGAGGAGAGAGCAGGTGAAAGGAGCAGCAGGTGAGTGAGTGAGCCAGAATAGTAAGTGTGGGAAGGACAACAGGGGCCAAGATCAGTTGAGGCAAAGTATGGAAGATCTTGAATACCTGAAGCTGGGAAAAGTTACTTTAGAATTAAAAACAACATAGGGGATCCCCTGTTTTTTGTTGCAAGAGTCCTGCATAGTAAAATACCCAGCAGATACTGGACACTCAGCAGCAGTAAAATTGGGCCAGGCATAGTGGCTCATGCCTGTAATCCAGCACTTTGGGAGCTGAGGCAGAAGGATCAGTTCAGCACATGAGTTCAAGACCAGTCTGGGAAACATAGTGAGATACTGTC
TGTCCTGGAATGCAACAGGGTTCCCTGGCAGGAGGAGCATGCTGCACATCCTGCTGCAGGGCTCTGCTGTGAGCGGTCCCCCTTTACCAGGAATGTAGGGTCTGATCACATAAGCCTGTTGATGAGTCTTTCTAGTCCTCTTCATGTTGAAATGTCTTATTAATAAGCCTGAAAGCAATGACTTATCTAGCTAGCAATTACGCCTATTTAATACTCGGGAAAAGGAAAATTTAAACAATGTAAAGAAGGATAAATTCTACATCAACTGAAAAAAGCTAGTATGTAGGGAAGATGTGATACCTCTCATTTCTCATCTACATAGGACTTGCTCTTTCCCGCGGCCCTCTCAAACCCTGTGCTCTGGATGCTTTCTTCTCAAGACTGCCCCAGGAAAACATTTTTTTGTGAATCTTCAGTTTTAATACCTCCAAACTTCAATTTGTCTTTTCAGTACTTGGAAAGGGCCACAGTACAAGAGACTGAAGTGTGACCCCTCCATACCTACCGCCCTCAGTTTGCCACTGGTGCCACCAAGAGGCTGCTTTGGGTTCTGCCATCCCTCTCCCCTCAGAATGTGCCTTGGCCGTCCCATGGGTCCTAGTGCAGTTTATAAAGCTTTTGTATAGGTTTTATCACAGAAAATTGAGTCAAATGTGATTTAAATTAAATGTGATCACTATATAGTAAGCCACTAATATCATTTGCTACAAGTCATAGTTGTTGGAATATTACCCATTGAGCATTGATTTCACCTATTTAATGTGTTTTCACTCATACCCTCAAACTTAGGGCAGGATAGTGTTCACCAGATGAATCTGTTTTTTGGAACTGTTGCTATTATTCTAATCAGGCAACTGATACGTTTTATGGAAAACATCTATTTGGTTAACTGATGTCTGAAGTGACAATAATAGTGAGTTGACCTTTGTCCTACAATCTCCTAAAAAGAGCAGCATCTCTACCTGGTGTTAGCTCTGGGGAAAAGGGCATGTTGCTTCTGTTGAAAGCAGCCTCAAAGGCGTCCTGTGTTTTTATAGTCGCTCCTCTGGCCTGTGCCGGGAAGGTATGGCTGCAGAGCACTGTGAATGAGTTCACCTGTCGTCAGGGAACCCCAGGAATGCTGCGGTGCCAGCAATACAGGAATCAGGGATTTGGAGCACTTGGCAAAAGCATGCTAGTGTTCTCAGACGGGTGAACTAATTTGGAAGACAACAAGTTCATATTACCAGTCTGTCTGTCCCCCCAGTTGAAAATAGTTTCTTTTTCTCCATTTTTTCTTGATGGAAGGGGTGTCCTTCTGATGGATTTTTCTATCTGGCAGTAAATCTTTGTGTTGGGTCCTCTTTAACTGTGCAGTTCTTTTTATTTCAGACTAATAATAGGGAGAGAGAGAGAGAGAACGATAACATCTCACTATCTGTGAAAATAACTAAATATAGCCCATTGTTTTAACAAATCTTTCCAGAGTATCTTCTGTGTGTCGAGACCTGTGGGAAAACGCTTGCTGTCTGGGGGAGAGAGGCATATAAATACATTATTACAGTGAAATCATTGCTATTAAGGAAAAAAACATTACTAGTAATGTGGGAACACAAAGCTGCCAGGGTAAGTCAGGAAAGACTGCCTGGAAGAGGTGACATTTGAATCCACAACAGACTCTTATGTAACTATGCCATCCACAGGCTCTCGCACTAACTGTGGAAGCTTGAGTCTGCTAAATTTTGTCTGTACAAAATGACATTGTTTTTATTTTTAGTAAAAAGCTTTTACAAAGGAAGAGGAGTTAATTGAATGTACTTCTTCACTCTCTCTAAAGCATTCTTGCATATACCTCCATATAGCTAAGTGATCAGGGTCAGTTAATTTTTCAGTCATTTTTGAAATAAAATCTAAAATGCCCTCTGTGCAATATGGAAAAGGTTCTTGACAAGGAAAGTAAATAACTTAAAGAATCTGCTTAAGTGGAATGCTTCTTTCTGTAGGATCCACATTGGGCTCTTGAAAGAGATTCTGATAAAACCGTTTAATGCATTGTTCACGAGTCTTTTTTTTTTTTTATGAAGCTTTTTGCATCGCCATGATGAAGCATTCTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCCTGGCCTTTTATCATGTGCAGAATGTAAGTGACATGGACCTTTTTGCCAAACATATGTTTTTCTGGTACCTTGGCTTTCTCAGCCCGGGAAGGGTGATAAGAAGAGGTACAAGTCACTGGCTGTGCAGGGGGAGAGTAGACAATAGAGGGCGTGGCTAGAGTGGTGAGGTCATCCACAGCGGCCTGAGCAGCAAGCCTTCTTGTCTGTGTTACAGTGGGCCTAGTGAATGTGGGTTCGTCTGCCAATAAAATCTTCCATCAGTTTGAATGCAATGAGTTGTTTTAGTGTTTCTGTCCTAGAAAAATAAGCATGCTTAATAAGAGTTTTATTAAAGTGAATGCATTGTCCTTTAAACCCTAAGATACTTATGTTGCTCGATTGCAAATAACATAAAAAATATCAAATACCTTCTGTAGCTAAATTAAGATTTAGATCTGTTTTCCTTGCAACTGATAGTATAATTAACACATTAATGCCCTTTACAACTGTATTCCTACGTGGAGTAAGAAAACAGACCCTTCCCTCTCTTACGTGAAATTTCATTCAAACTCTATTCCAAAGTCATTATCCTCATCACAATAGCTAATATTCACTGAGAGTTTATTTTGTGTTAGTCACTGTTCTGAGAGTTTTTGTGTAATTTAATCTTTACCTTTATACCATAGATTAAGATAATCCCTGTGTTAGCTGAGATGACTGAAGCATAGAGCAATTAAAGTCACTCATCAGGCTGGGCGCAGTGGCTCATACCTGTCCCGGCACTCTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTTGTGACCAGCCTGGCCAACATGGTGAAATCCCATCTGAGACACGAGAATTGCTTGAACCCAGGATGGGGGGGTTGCAGTGAGTTGAGATTGTGCCACTGCACTCCAGCCTGGGCAAGAAAGCGAGACTCCCATCTCAAAAAAAATAAAAAAGTAATAATAAAAATAAAGTTACTCATCAGTGTTACAAGAGGCAGAGATAGGACTTAAGCTCAGAGAAATTTAGCTCTGGTATTCAGGATATTCACTACTACATGAAACTGTCTCTCATTCTCTTGCTAACCATGTCTGCTCTCTAAAGTAAGAGAGGAAAGGAGAACTTCAAAGATGGAACAAGCAAACACAAAATATGCCATCTTCTTTTTCATGTTGGTATAAATATAAGCAAGCATGTATCTGATAAACTTTGATCAGCTGCTGTGCACAAGGATTGTGCCTGACAACTGGGGAATGCAGATGAATCTCAGATGCTCCCAGTGAGCTTCGAATTACGATAGGGGAAATAAAATGCATACATAAACACCAGTCATGCAAAGATGAACATGAGAAAATATTCACTAAATGCAGTGGGAGTGGAGAAAGGGAAAGTTATTTCTATTAATGGAAAGCTATTTTAAGTTACTTTTTGTTGGGGAGGATAGTTGGGTGGAGAAAGGGGATAGGAAGCTCCCTGAAGGATGTAGTATAAGCAAGAAAAGGTGTGTCAAACTTGGCATTGTGCCTGGCACATAGGCCATAGTCAGTACATGCATGGATGTGCTGGAAGGGCCTTCCAGGCAGGGTTGCAGCCTGGGCCAGTCCTTGGCACAGCTGAGGAGAGAGCAGGTGAAAGGAGCAGCAGGTGAGTGAGTGAGCCAGAATAGTAAGTGTGGGAAGGACAACAGGGGCCAAGATCAGTTGAGGCAAAGTATGGAAGATCTTGAATACCTGAAGCTGGGAAAAGTTACTTTAGAATTAAAAACAACATAGGGGATCCCCTGTTTTTTGTTGCAAGAGTCCTGCATAGTAAAATACCCAGCAGATACTGGACACTCAGCAGCAGTAAAATTGGGCCAGGCATAGTGGCTCATGCCTGTAATCCAGCACTTTGGGAGCTGAGGCAGAAGGATCAGTTCAGCACATGAGTTCAAGACCAGTCTGGGAAACATAGTGAGATACTGTCN
benign
2,211
Gene KIF1B (kinesin family member 1B) variant at chromosome 1, position 10375383—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
benign
AGTAATTCTCGTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGGGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTAACTTGATTTCAAAAAAAAAAAAGAATGAAGTATGAGAAAAAGTTAAAATGGGCTTTTTAGATTTAGTGAGATACAATGCTATGTTACTCTACAAAGATATCTAGCAATACAGAGTATAGGAATTTATTTCTCACACAGTAGTCAAGAGGGCTGGTCCAGGTCCAGGTCAGTGGTGCAGGTCTTCTCTGCACAGCCGTTCAGGAACCCTGGGTCTTCCCATTTGTTTGCTTTTTCTGCCATTTTCTAAGGCAGTGGGCCTCTGAGACTTCAGTGTACATCATCATCCCCTGGGAGGCTTGTTGAAGCCCCCATGGCTCAACCCCACCCAAAGTTTCTCGTTCCGTAGGTCTGGCTTGGAGTCTAAAAATTTGAGTTTTTGAACAGTTTCCCAGGTGAAGCTGATGCTGCTGGCTGGGAGCACACTTTGAGAAACATCGCTTTTGGTGTGGCCATGGGACTAAAAAGAAACATATAAAGGAGTAGAGTTCCTATTCCAGATAATGTGTTCAGAGGGCTTTAATATAGGCAGAGAGATTGTGTGACCCAGTGGCCATCAATGATCAATTTCCTTTCATAACTTCAGAAGGATGACACCAGTTGAACGCAGAGTTAACTTTCTGAAGCCAGCTTGTCTCCTCAGCTGAGCTCTCTGCAACTCAAGTTTGCAGCTGGGGTTTAGGGAGGGCCATTGTGTTCCTCCCAGTGAAACAGTACTCAGTATGCCTTGATTGTAACTGATTCTCTTGTTACCCTTTTCTTTCTAATCTCTCTATTTTAAAGGACCCCAGAAGCCAATTCCCGGGCCTCTAGTCCCTGCCCAGAATTTGAACAGTTTCAGATTGTCCCAGCTGTGGAAACACCATATTTGGCCCGAGCAGGAAAAAACGAATTTCTCAATCTTGTTCCAGATATTGAAGAAATTAGACCAAGGTGAGTACTATATTGAGCAGGAATGCCAGCTATAAAAAACAAATCCACAGGAAGAAGTGACTGGCCAGCTCTTCCCTGTGAGGTCTGTACTGTAGTCTGATGCAATCTGTACTGTAGTCTGATGCAAGTTGAGTCTGGGGTGAGAGGGCCAGCCTGGGTTTCTCCAGTTGGGTCTCATAATGCATCTGCACCCTGGCGCAGCATGTTGCCATGGCACGGTTTCGCTTTTGCCGTATTACTTTGGCAGATAAGATTCTAGGCCAAATAGGTCATTTGCCTGTTTCATCGAATCTAAGGACTTGGCCTAAGTGTGGCGTATTTTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTG
AGTAATTCTCGTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGGGCCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCTAACTTGATTTCAAAAAAAAAAAAGAATGAAGTATGAGAAAAAGTTAAAATGGGCTTTTTAGATTTAGTGAGATACAATGCTATGTTACTCTACAAAGATATCTAGCAATACAGAGTATAGGAATTTATTTCTCACACAGTAGTCAAGAGGGCTGGTCCAGGTCCAGGTCAGTGGTGCAGGTCTTCTCTGCACAGCCGTTCAGGAACCCTGGGTCTTCCCATTTGTTTGCTTTTTCTGCCATTTTCTAAGGCAGTGGGCCTCTGAGACTTCAGTGTACATCATCATCCCCTGGGAGGCTTGTTGAAGCCCCCATGGCTCAACCCCACCCAAAGTTTCTCGTTCCGTAGGTCTGGCTTGGAGTCTAAAAATTTGAGTTTTTGAACAGTTTCCCAGGTGAAGCTGATGCTGCTGGCTGGGAGCACACTTTGAGAAACATCGCTTTTGGTGTGGCCATGGGACTAAAAAGAAACATATAAAGGAGTAGAGTTCCTATTCCAGATAATGTGTTCAGAGGGCTTTAATATAGGCAGAGAGATTGTGTGACCCAGTGGCCATCAATGATCAATTTCCTTTCATAACTTCAGAAGGATGACACCAGTTGAACGCAGAGTTAACTTTCTGAAGCCAGCTTGTCTCCTCAGCTGAGCTCTCTGCAACTCAAGTTTGCAGCTGGGGTTTAGGGAGGGCCATTGTGTTCCTCCCAGTGAAACAGTACTCAGTATGCCTTGATTGTAACTGATTCTCTTGTTACCCTTTTCTTTCTAATCTCTCTATTTTAAAGGACCCCAGAAGCCAATTCCCGGGCCTCTAGTCCCTGCCCAGAATTTGAACAGTTTCAGATTGTCCCAGCTGTGGAAACACCATATTTGGCCCGAGCAGGAAAAAACGAATTTCTCAATCTTGTTCCAGATATTGAAGAAATTAGACCAAGGTGAGTACTATATTGAGCAGGAATGCCAGCTATAAAAAACAAATCCACAGGAAGAAGTGACTGGCCAGCTCTTCCCTGTGAGGTCTGTACTGTAGTCTGATGCAATCTGTACTGTAGTCTGATGCAAGTTGAGTCTGGGGTGAGAGGGCCAGCCTGGGTTTCTCCAGTTGGGTCTCATAATGCATCTGCACCCTGGCGCAGCATGTTGCCATGGCACGGTTTCGCTTTTGCCGTATTACTTTGGCAGATAAGATTCTAGGCCAAATAGGTCATTTGCCTGTTTCATCGAATCTAAGGACTTGGCCTAAGTGTGGCGTATTTTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTGNNN
benign
2,339
Regarding the variant at chromosome 1 and position 10376834, affecting gene KIF1B (kinesin family member 1B): benign or pathogenic? If pathogenic, what are the associated illness(es)?
benign
TTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTGGGATGCTTGTAGCTCCTCACAGCAGGATTCCTGCCCACTGTTTTTTCTCTGTTGGGAGGGAAGCTCTTTTCTAGGAGTGTCTCAGTTCTGCTTTTGGCATTAGTGATGGTGGTGGTACAGTTGGAATTAGTGCCATGTCATACACAAATGTTCCACAAGGCGGGAGTGTTTCACTTTCTGGTGATAAACTTGATGGTCATTGTTATGATTAAGATAATGCCGGGCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCAAGCACTTGGGGAGGCCGAGGCGGGCAGATCACGAGATCAGGAGTTCAAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTACTAAAAATACAAAATTAGTCGGGTATGGTGGCACATGCCTGTAATTCCAGCTGCTTGGGAGCCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCTATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAGAAAAAAAAAAAAATAATAATGCTGGGTAGTGACCTTGTGATTGTTACAGCTCCCTTTGATCAAAGAAATATAGCTTTCAGGCATAAACCTGGAAGTCTCCCTCTGAATCCAGCAGTTGTTTTCATTGATGCTTGTCAGGTTGAAGATGCTTTCAGTGATGCTCTCTATACTCATAAATAAGCAAATGTGGCAGGCTTTGCTTTCTGGATCCCAGGATTAAAACTAACCGTGACCACTACTCCAAACAAAACACAATATGCCTAGGGGCACGGATGAACGTCCAGGGAGCCCGGGCCCCAGGCTTTGTTGCGTGTTCCCTGCTCCTCTCCATCTGGTGTGGAAACACTGCCCAGGGAGAAAGGAGGAAGCTCACTGTGGACAGTCTTCTTTCCTTCTGACAGACCAGGTCATCTGGCTTCCGAGATCATCAGAGAAGATAAGTCTGTCTCTTTCAGCTGCCAGTAAGTTTTCCAGGATGAGAGGGGAAAAAGAAAGCCTCCAGTGACTTCAGTTGCTTTGCCAGTTGTCTTGGGATTGTTTTACACCATCCTTTACTTCCCTTGCTCAGACCTCTCTGTTTCACCATTGCTCAGGCATTCAGGAAAGTATCTGCTCACTCCCACTTGGTGAGTCCTCGGCCTTGAGGTTGCTGACTCTCAGGCGTTAGGCAGCTGGATGACTTCCCGCTTCACGCAGCAAAGGCCAGGGGCTTGCGCGCCTCTGCAGAGTTGTTGCTAGGGAGACTTGTGTCATCATCCACAACCTTGTTTCTCACTTCCTGGTTGGGCTCATCTCTGAAGAACAGGTCTCCCAGCTTCGCTCCTTATCACTGCATTGTGAAGAGGAGGAAAAGTGAATCACGGAGAGAGAAAGGAAAGGATAGAATCACAGGCTGCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCGGATTTTTTT
TTGATGGTCCTCAGCACGATTATTTTCTTTTTGTGAGAAACTAACTTTTGTCATATTGTCGTTTTTAGCTCAGTGGTCTCTAAGAAAGGATACCTTCATTTCAAGGAGCCTCTTTACAGTAACTGGGCTAAACATTTTGTTGTCGTCCGTCGGCCTTATGTCTTCATCTATAACAGTGACAAAGACCCTGTGGAGCGTGGAATCATTAACCTGTCCACAGCACAGGTGGAGTACAGTGAGGACCAGCAGGCCATGGTGAAGGTCCGTCCTGCCCTGCCTTGGTTTCTTATTGCCACGTGTGCCCTTCTCTTTTGATTTCTGCACTCTCTGTTACGTGGTGTGAAATTTCCCTATTCTCTCTGGTTTTGAACTTCCTTTGTGAAGTGCTATATGCCTTGGGAATATGGCAAGGCAGTCCCCATTGCTGTCTCTGTAGTAACTTTCTTGTCTACCTGCATTTTTCTTTCAGACACCAAACACCTTTGCTGTCTGCACAAAGCACCGTGGGGTCCTTTTGCAGGCCCTCAATGACAAAGACATGAACGACTGGTTGTATGCCTTCAACCCACTTCTAGCTGGCACAATACGGTAAGAAGTTTTGTTGTTGTTGTTGTTGTTTTTGAGACGGAGTCTCACTTTTTCTCCCTGAAGTGCAGTGGCTTGGTCTTGGCTCACTGCAACCTCCGCCCCCTGGTTCAAGCGATTCTCCTGACTCAGCCTCCCCAGTAGCTGAGACTACAGGCACGTGCCACCATTGCCTGGCTAATTTTCGTATTTTTTGTAGAGACGGGGTTTTACCACAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGCACCCAGCCTAGAAGTTGTTCTGTGTTTTCTTTCTCTCTTTGGCTTTTGGCTTCAGGAATATCAGGATAAATAGGAAAGGAAGAATTTTTCTTTTCTTTTTTCTTTTCTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTTTGCTCTTGTGTGGCCCAGGCTGGAGTGCAGTGGCATGATATCGGCTCACCGCAACCTCCACCTCCCAGGTTCAAGCCATTCTCCTGCCTCAGTCTCCTGAGTAGCTAGGATTACAGGTGCCCGCCACCACACCCAGCTAATTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCACATCTGGCTTGAAAGGAAGTATTTTTCAAAATAAATTTAAAAGAGAGGAAGGACAGGAGTGTAAATTGGTTGTGGGGTGGTAATGAGGCCTCTGCATCTTGTAAGGCATTGTCATGTTCTGAACCACCAGGGATACTCTGGTCACACATGTGCACCAATTATTTTCCTTCTTTGTCTTTTTGTTCTCAAGAGTTCTAAAGATGGGGCTCAGGGGAGAGAGTAAAGGGAGGACAGTGAGAACCTTAATGGTCTCCCAACCTCCAGCCCTGTGATTCAGCCTCACGTTCTGAGGGCTTGTGTCACAGGGTCCCGGAGTAGACGGCTTAGAGGACTAGGCCTGCGGTGCCAAATAGGAAGATGCTCCAGGAGGGAGCCTCAGAGGGAGAGGACTGTGAGGGGACAAGACTTGTACCCAGACTTCTAATCCTACCTCCCCGTTTGTCCCCCATAGGTCAAAGCTTTCCCGCAGATGCCCGAGCCAGTCGAAATACTAAGTGACTCTGCCGAGTGCCCTCACTCGCCTTCGAGAGATAAAGAAAGCGTTACCTCTCATTTCTCTTTGTGATTCTTGACGGTGACTCTTGTATGTAATCCTGTGGCTTAACTACTTCTCCCTCCTTGTCCAGCACTTTTCTAGCTCTCCCGTTCCCCATCTCCATTGCTCTGTACTCTTTTCTTTTTTCTTGTGCTGAGAATCTCGTTAGTAGCATGTGGCCTAACAAAAGGAAAAAATGTTTTTAAACACACACACACACACACACACACACACACATACACAGACAAAAACACAAAAACTCTGAGGGGATCTGGTGAATCTCCAAATTATTGTGGGTGTACTTTGGCTTCCTTTTGTATGATAGGTCCCCATCATGACCACCTCTGATGTCTGTGCTGCTGTCACCAGGCACCTTTGTTTTTCAAGACAACATACTTTTTTTTTCTTTTCTCTGTTTGTGATATCACTTTAATTTTTCTTGGGTGGCTTAGAGACTAAGGGAGGAGACATCTGGCCTTTTTAGAACCTGAGAGGAAAAAAAGAGTCTTTTTTTCCCCTCTGTCTCTTTTTGCCATGGCTAATCCCTGCATTTCCATTCAGGGAAAAGGTGGTAGTGAGCATAGAACTGCAACAGTTATATTCTGAGTCAAAGTTGGGGCTTTTTACGGCATAATTATGGAATTTTTATTTACTGGTAGAGAGGAGACGAGAGGCTTTTTCAGTGGGCCTGGGACAGTGGCTGCTCTTGACTTTGTGTGAAGGGAAATGCCAAGGATGCTTCTGGTGGACTTCAGGGGACCCCAGGGTTTGGCCGTGGGCCGTGATGGCAGCAGGCGGTGGGATGCTTGTAGCTCCTCACAGCAGGATTCCTGCCCACTGTTTTTTCTCTGTTGGGAGGGAAGCTCTTTTCTAGGAGTGTCTCAGTTCTGCTTTTGGCATTAGTGATGGTGGTGGTACAGTTGGAATTAGTGCCATGTCATACACAAATGTTCCACAAGGCGGGAGTGTTTCACTTTCTGGTGATAAACTTGATGGTCATTGTTATGATTAAGATAATGCCGGGCAGGCCGGGCACAGTGGCTCACGCCTGTAATCCAAGCACTTGGGGAGGCCGAGGCGGGCAGATCACGAGATCAGGAGTTCAAGACCAGCCTGGCCAATATGATGAAACCCCGTCTCTACTAAAAATACAAAATTAGTCGGGTATGGTGGCACATGCCTGTAATTCCAGCTGCTTGGGAGCCTGAGGCAGGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCTATTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGCCTCAGAAAAAAAAAAAAATAATAATGCTGGGTAGTGACCTTGTGATTGTTACAGCTCCCTTTGATCAAAGAAATATAGCTTTCAGGCATAAACCTGGAAGTCTCCCTCTGAATCCAGCAGTTGTTTTCATTGATGCTTGTCAGGTTGAAGATGCTTTCAGTGATGCTCTCTATACTCATAAATAAGCAAATGTGGCAGGCTTTGCTTTCTGGATCCCAGGATTAAAACTAACCGTGACCACTACTCCAAACAAAACACAATATGCCTAGGGGCACGGATGAACGTCCAGGGAGCCCGGGCCCCAGGCTTTGTTGCGTGTTCCCTGCTCCTCTCCATCTGGTGTGGAAACACTGCCCAGGGAGAAAGGAGGAAGCTCACTGTGGACAGTCTTCTTTCCTTCTGACAGACCAGGTCATCTGGCTTCCGAGATCATCAGAGAAGATAAGTCTGTCTCTTTCAGCTGCCAGTAAGTTTTCCAGGATGAGAGGGGAAAAAGAAAGCCTCCAGTGACTTCAGTTGCTTTGCCAGTTGTCTTGGGATTGTTTTACACCATCCTTTACTTCCCTTGCTCAGACCTCTCTGTTTCACCATTGCTCAGGCATTCAGGAAAGTATCTGCTCACTCCCACTTGGTGAGTCCTCGGCCTTGAGGTTGCTGACTCTCAGGCGTTAGGCAGCTGGATGACTTCCCGCTTCACGCAGCAAAGGCCAGGGGCTTGCGCGCCTCTGCAGAGTTGTTGCTAGGGAGACTTGTGTCATCATCCACAACCTTGTTTCTCACTTCCTGGTTGGGCTCATCTCTGAAGAACAGGTCTCCCAGCTTCGCTCCTTATCACTGCATTGTGAAGAGGAGGAAAAGTGAATCACGGAGAGAGAAAGGAAAGGATAGAATCACAGGCTGCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCGGATTTTTTTNN
benign
2,348
Regarding the variant at chromosome 1 and position 10639086, affecting gene CASZ1 (castor zinc finger 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?
benign
AGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGGAGGCTCTGGTAGGGGCTGTTTTAGAAAATAACTGATTTCCTGTTGAATCAGGTACGCTCCGTGCGACCACTCCTCCCTCCCTGCTCCCTGTCCAGTTCGGGTGGTCCTGGCTTTCTGGCTGTGGGCAGCTGAGAGGACAAAAGAAAGGAAGAAAAAAGGGAAAAGTAAACCACTGCCCCCCAGTTGAGCCAGGTTCCTCCTGGAGACCTCTGGGGAGGAGGCTTCTGGATGACAGCCTCCCCGCCAGCCTTCCATTCCCTCCTAGGCCTGTTCTCTCCCGGTGGCCCAATCTGACACCAGCTGGTGGCCTGGAGTAGGGAAGGTGGGCAGGTGTGGCCTCGGGCAGCCTGCCCTCGCAGGGGACTCGGTCCCCGGGGACCTCAGAGCCACTGGCCAGGTGTGTGCCTGCCAGGTCAGGCCCTGGCCCGGGCTTCGATGGCATCATCATCTCCAGGAAGGGGGATGTTTTGCAAAGGGAACCCAATCTGGGTAGACTGCACCAGCGAAGAAGCATCCCAAACAAAGTAATAAAACAAACTGGAAAAAAAAAAAAGCCCTATAAAGCCACACGCATCACCAAGAGAGAACTCAAATGTTAAATTAACTACAAACTTGGATCAACAGTAATAGTCCTTTTTTCTTGTCTCTACAAAATTCAAGTTAAGAGTTGGAATCACGCAGCTCCCATCAGTGCTATTGTGAAGACAGACAGCCTCAAACAGTTAAGGCCTCTACAAAAACCCTGGACCAAATCCCACAGGATAAACGGGACTGAGCCTCCAACCTCAGGCCGGGCCCAGGCGGGTCTGCACTCTCACCACGCCTGCTTTCTTCCTTTTTGTTCTATGTAGAATAATAACCTTTACAGGAAAAATACTGTACAACTTTCTTGTATTTTTTTCCATTTTGAACATTAAAGCCAAAACCAGGCGCATCCTTCCTGTTTGCACCACCAGGGTGGCCGAGACCCCGCCCCGGCCCCCAGCGGGCTACTCTGGGTTTTGGACGCAGCCTCGGTTTCCCTGGGGCGGAGGCTGGGGCCAGGGAGTCGCCAAACAGACCCGACCCAGGCCTGGGGGAGCAGCCGGGCCCTGGGGTGGGGCTGAGCTGGAGCTCCGCGGCTGCTACTCCCGTGAGGCTTCCTCCACGGTCCCTGTAGTGTCACCCGTGCTGACTGCCTTCTGCCCGTCTCCCCCTGGGCAGGGGGGAGGATCCTAGCTGCATGAGGGAGGCCCCGCCAGCGGCTCCAGGAGCCACCCCGCCCTGGTGGCGCGCGGTGGGGGTCCCGGTGGCCCCCAGCGCCCGTCCCAGTCCTGAGCAATGGTCGCGGGGCCGAATCGGCCGCGGGGAGGGGCGCCGGGGCAGCGGCCGGGAGCTGCGCCGCATTCGCCCGGGACCCCTGCTCCTAGGTTCCCTACCCCGGGACAAGAGCACCTTCTGTTTCCCTGAAGAGACCCGGCCTCCCTAGAGCAGGGCCACCGCCGCCGCCTGTGTCCTCGGCCGCGGAGCACCAGAGGGGTCCCCGCCTCTGTCCTGAGACGGACTCGGGGTCCGGAAGCACCGGCGGGGCGCGGGGCTCTGCCCAGGGGCCGCTTCGCGCGGGGCGGCGCCGCTCCCGAGGCCGAGGCCGAGGCCGCCGCCAGGGCCACCCGCGGGCGCCGCTAGGGCGAGGAGGCTGCAGTGGGCGCGGGGCCGGGGGCGCCCAGGGCCGCCAGCGCCGCCAAGGCCGGGGTCCGCGCGCCCGCGCCCGCCGCCTCCGCCGCCGCCTCGGGCAGCGACTCCTCCGAGTCGGTGCGCAGGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCCTCGTCCTCGTCGTCTTCGGCCTCCTCCTCCGGCAGCTCCAGCTCCTCCTCCTCGTCCTCCTGCGAGGACTCCCCAGCTGCGGCGGCGGCGGCGGCGGCGCCCTCGCGCGGCCCGGGGGCGGCGGCGTCGGGCGGGCCGGGGTCGCCCGCGTCGCCCAGCGCCAGGCCCAGGCCGGCGGCCGCCGACTGCAGGAAGAGCAGCGAGCCCGGCTCGGCGCCCAGCGACAGGGAGCCGTCCAGACTGATGGGAGGCCCGGGCGCGGGGCCCTCTGCCGCGGGCTCGCCGCGCTCCTGCTTCTCGTGCTTGCGCTTGTGCGAGTCCATCTGCGACATGCCCACCACCGTGTGGCGGCAGCCCGGGAAGGTGCAGTGGAAGTGCGAGCACTTGAGCTTGTACTTGCAGTCGGGCACGGCGCAGTCGGCGCTGGAGCTGAACTGGCAGAAGCCCGCGGCGCTGATCACGTCCTGTTTGCCGTGGTGCTTGCGATGCGCCGTGACCTTGGTGCTGTCGGTGCAGCGGAAGCGGCAGCGCAGGCAGTGGAAGTGCGTGCTGGTGCCCGAGAAGGGGCAGTCGGCGAAGTGGCAGCTGAGTGAGGCCTTGAAGCGCTTGAAGTCGTCCAGCACCAGGTTGTCCACGCGGTCGTGGTGCTGCGCGTGCTTGTACATGTGCGTGCGCCCGCAGAACTTGTAGCCGCAGTTCTCGCGCGTGCAGTGGTAGTGGGTGACCTTGAGCGAGAACTGACAAGCTGCGTCCTTGCAGTCCTCGTAAAGGTCGAAGCGCCGGAAGCCCTCCAGCATCATGCCCTCGTCCAGCATCTTCCGGGAGGACGCCGTCTTCCGCCGCTTGCCGAAGGGCGACATGTCCTCGATGATCCAGAAGCGCTTTTTGGCCCCCGAGGCTGTCGGCATAGAGATGGTGTTCCCTGGGGAGGGGCAGGGAGGTCAGTGCAGAAGAGGGACCCACGTGGGCACCATCAACAGGGTTACACCCACATGGGACCCCTGATCTGGCATGGCGCCAGAGGGCGGCATTTAGGGAGCCCTCGGCTTCCCCTGGCTTGGGAGGCCTCTCCTGCCCCGCCCCCTCCCTACCCTGGCACAGCAGGGGTCCTGGGCTTCCCCTCCTCATCCCTGTCTGCAGAAGGGCCACACAGGCCTCTCCCCCGGGGGGTGGCAGCCCAACCAGCTCTGGGGGACGTGGTGGCTGCTTCCTGGCCAGTTTGGGTGGGAAGTGAGGACACGTCCTGGCGCTAATTGAAGCTGAAGGGGGAATCTAGGTCGGCAGAGTGCAATTAGCCAAGTTGGACTCGGGCCAAGACGCCAGCTATAGCTGCCTCTAATGAGGGACAGGCCGGCTCCTTTCCCGCCGGCTACCCGGCTTCCCTGGCTGCGCCTGTCTGCACAGGGGGAGCTGCCTACTCACAGTAGGGGTGCCAAGTGCCCCAGGGCTGTGCGGGGCTGCAACTCCCTGCCCTAAGGAGCACCTTGTCCTTGGTACCAGAAGGTTCTTTAAGGTCTTGTTGGGGTTTTCTACCCCAAGGGCTGGGAGAGGGCAGCCCTGATGGAGGACCAGGACTCAGGGAGCTCAATGCCTCTGCCCTCTGCTCAGAGTCGTAATTTACCTGGGTCAGGACCAGGGCAGGGGCTCAGCCATGGGGAGCGGAGCCCATTTATGTCCAGCTGGCCCAGACTGCTTCCTGGGATTTAGGATGCCCCCCTGCCAAGGCCAGGGTTGTAACCCTTTCTGGGAGGTACCTGTGCCCCTATGGCCATGGGTGAGGGGAAGCCCCAGCTCCTGCCAGAGGCACAGGCAGCTAGTCCTGGCTCCCCACGCCACCCTCCACAAACAAGAGAAGCTCTCTGACCAGCCCCACCAGAGCGTGGGTAGCCTCTGGGCTCCTCCCACACGGCTGACCTGCCTGGCTCCCCCAGAGCCTGCTTAGAAGGCCCAGCAGTCACTCTAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCA
AGCAATGGCTTATAGTCCTAGTGTGCAATATGAAGTTTACAAAAGGCTAGACTCCGCACTGTCGGCATCTTCTTCTTTTCTTCTTTTTTTTTTTTAAGTTTGATTTTGCTACATTGAAAAAATGTTTGTGTGTGTGTGTTTTTTTTTCCTTTACAAAACTCCTTCCACAGACGCCCGGGGCCTGTGGCGGGTCACTGTCTGGGCAGATGCTCACAGCAGCACGTGGTGCCCACAGAGTTCAGGAGGCTCTGGTAGGGGCTGTTTTAGAAAATAACTGATTTCCTGTTGAATCAGGTACGCTCCGTGCGACCACTCCTCCCTCCCTGCTCCCTGTCCAGTTCGGGTGGTCCTGGCTTTCTGGCTGTGGGCAGCTGAGAGGACAAAAGAAAGGAAGAAAAAAGGGAAAAGTAAACCACTGCCCCCCAGTTGAGCCAGGTTCCTCCTGGAGACCTCTGGGGAGGAGGCTTCTGGATGACAGCCTCCCCGCCAGCCTTCCATTCCCTCCTAGGCCTGTTCTCTCCCGGTGGCCCAATCTGACACCAGCTGGTGGCCTGGAGTAGGGAAGGTGGGCAGGTGTGGCCTCGGGCAGCCTGCCCTCGCAGGGGACTCGGTCCCCGGGGACCTCAGAGCCACTGGCCAGGTGTGTGCCTGCCAGGTCAGGCCCTGGCCCGGGCTTCGATGGCATCATCATCTCCAGGAAGGGGGATGTTTTGCAAAGGGAACCCAATCTGGGTAGACTGCACCAGCGAAGAAGCATCCCAAACAAAGTAATAAAACAAACTGGAAAAAAAAAAAAGCCCTATAAAGCCACACGCATCACCAAGAGAGAACTCAAATGTTAAATTAACTACAAACTTGGATCAACAGTAATAGTCCTTTTTTCTTGTCTCTACAAAATTCAAGTTAAGAGTTGGAATCACGCAGCTCCCATCAGTGCTATTGTGAAGACAGACAGCCTCAAACAGTTAAGGCCTCTACAAAAACCCTGGACCAAATCCCACAGGATAAACGGGACTGAGCCTCCAACCTCAGGCCGGGCCCAGGCGGGTCTGCACTCTCACCACGCCTGCTTTCTTCCTTTTTGTTCTATGTAGAATAATAACCTTTACAGGAAAAATACTGTACAACTTTCTTGTATTTTTTTCCATTTTGAACATTAAAGCCAAAACCAGGCGCATCCTTCCTGTTTGCACCACCAGGGTGGCCGAGACCCCGCCCCGGCCCCCAGCGGGCTACTCTGGGTTTTGGACGCAGCCTCGGTTTCCCTGGGGCGGAGGCTGGGGCCAGGGAGTCGCCAAACAGACCCGACCCAGGCCTGGGGGAGCAGCCGGGCCCTGGGGTGGGGCTGAGCTGGAGCTCCGCGGCTGCTACTCCCGTGAGGCTTCCTCCACGGTCCCTGTAGTGTCACCCGTGCTGACTGCCTTCTGCCCGTCTCCCCCTGGGCAGGGGGGAGGATCCTAGCTGCATGAGGGAGGCCCCGCCAGCGGCTCCAGGAGCCACCCCGCCCTGGTGGCGCGCGGTGGGGGTCCCGGTGGCCCCCAGCGCCCGTCCCAGTCCTGAGCAATGGTCGCGGGGCCGAATCGGCCGCGGGGAGGGGCGCCGGGGCAGCGGCCGGGAGCTGCGCCGCATTCGCCCGGGACCCCTGCTCCTAGGTTCCCTACCCCGGGACAAGAGCACCTTCTGTTTCCCTGAAGAGACCCGGCCTCCCTAGAGCAGGGCCACCGCCGCCGCCTGTGTCCTCGGCCGCGGAGCACCAGAGGGGTCCCCGCCTCTGTCCTGAGACGGACTCGGGGTCCGGAAGCACCGGCGGGGCGCGGGGCTCTGCCCAGGGGCCGCTTCGCGCGGGGCGGCGCCGCTCCCGAGGCCGAGGCCGAGGCCGCCGCCAGGGCCACCCGCGGGCGCCGCTAGGGCGAGGAGGCTGCAGTGGGCGCGGGGCCGGGGGCGCCCAGGGCCGCCAGCGCCGCCAAGGCCGGGGTCCGCGCGCCCGCGCCCGCCGCCTCCGCCGCCGCCTCGGGCAGCGACTCCTCCGAGTCGGTGCGCAGGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCGTCCTCGTCGTCGTCCTCGTCCTCGTCGTCTTCGGCCTCCTCCTCCGGCAGCTCCAGCTCCTCCTCCTCGTCCTCCTGCGAGGACTCCCCAGCTGCGGCGGCGGCGGCGGCGGCGCCCTCGCGCGGCCCGGGGGCGGCGGCGTCGGGCGGGCCGGGGTCGCCCGCGTCGCCCAGCGCCAGGCCCAGGCCGGCGGCCGCCGACTGCAGGAAGAGCAGCGAGCCCGGCTCGGCGCCCAGCGACAGGGAGCCGTCCAGACTGATGGGAGGCCCGGGCGCGGGGCCCTCTGCCGCGGGCTCGCCGCGCTCCTGCTTCTCGTGCTTGCGCTTGTGCGAGTCCATCTGCGACATGCCCACCACCGTGTGGCGGCAGCCCGGGAAGGTGCAGTGGAAGTGCGAGCACTTGAGCTTGTACTTGCAGTCGGGCACGGCGCAGTCGGCGCTGGAGCTGAACTGGCAGAAGCCCGCGGCGCTGATCACGTCCTGTTTGCCGTGGTGCTTGCGATGCGCCGTGACCTTGGTGCTGTCGGTGCAGCGGAAGCGGCAGCGCAGGCAGTGGAAGTGCGTGCTGGTGCCCGAGAAGGGGCAGTCGGCGAAGTGGCAGCTGAGTGAGGCCTTGAAGCGCTTGAAGTCGTCCAGCACCAGGTTGTCCACGCGGTCGTGGTGCTGCGCGTGCTTGTACATGTGCGTGCGCCCGCAGAACTTGTAGCCGCAGTTCTCGCGCGTGCAGTGGTAGTGGGTGACCTTGAGCGAGAACTGACAAGCTGCGTCCTTGCAGTCCTCGTAAAGGTCGAAGCGCCGGAAGCCCTCCAGCATCATGCCCTCGTCCAGCATCTTCCGGGAGGACGCCGTCTTCCGCCGCTTGCCGAAGGGCGACATGTCCTCGATGATCCAGAAGCGCTTTTTGGCCCCCGAGGCTGTCGGCATAGAGATGGTGTTCCCTGGGGAGGGGCAGGGAGGTCAGTGCAGAAGAGGGACCCACGTGGGCACCATCAACAGGGTTACACCCACATGGGACCCCTGATCTGGCATGGCGCCAGAGGGCGGCATTTAGGGAGCCCTCGGCTTCCCCTGGCTTGGGAGGCCTCTCCTGCCCCGCCCCCTCCCTACCCTGGCACAGCAGGGGTCCTGGGCTTCCCCTCCTCATCCCTGTCTGCAGAAGGGCCACACAGGCCTCTCCCCCGGGGGGTGGCAGCCCAACCAGCTCTGGGGGACGTGGTGGCTGCTTCCTGGCCAGTTTGGGTGGGAAGTGAGGACACGTCCTGGCGCTAATTGAAGCTGAAGGGGGAATCTAGGTCGGCAGAGTGCAATTAGCCAAGTTGGACTCGGGCCAAGACGCCAGCTATAGCTGCCTCTAATGAGGGACAGGCCGGCTCCTTTCCCGCCGGCTACCCGGCTTCCCTGGCTGCGCCTGTCTGCACAGGGGGAGCTGCCTACTCACAGTAGGGGTGCCAAGTGCCCCAGGGCTGTGCGGGGCTGCAACTCCCTGCCCTAAGGAGCACCTTGTCCTTGGTACCAGAAGGTTCTTTAAGGTCTTGTTGGGGTTTTCTACCCCAAGGGCTGGGAGAGGGCAGCCCTGATGGAGGACCAGGACTCAGGGAGCTCAATGCCTCTGCCCTCTGCTCAGAGTCGTAATTTACCTGGGTCAGGACCAGGGCAGGGGCTCAGCCATGGGGAGCGGAGCCCATTTATGTCCAGCTGGCCCAGACTGCTTCCTGGGATTTAGGATGCCCCCCTGCCAAGGCCAGGGTTGTAACCCTTTCTGGGAGGTACCTGTGCCCCTATGGCCATGGGTGAGGGGAAGCCCCAGCTCCTGCCAGAGGCACAGGCAGCTAGTCCTGGCTCCCCACGCCACCCTCCACAAACAAGAGAAGCTCTCTGACCAGCCCCACCAGAGCGTGGGTAGCCTCTGGGCTCCTCCCACACGGCTGACCTGCCTGGCTCCCCCAGAGCCTGCTTAGAAGGCCCAGCAGTCACTCTAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCANNNNNNNNNNNN
benign
2,398
Classify the chromosome 1 variant at position 10643146 affecting gene CASZ1 (castor zinc finger 1) as benign or pathogenic. If pathogenic, which disease(s) is associated?
benign
TAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCAGGCCCCATAGGCCACCCGGAGTGGACAAAAACGGAGAGAGACTAAGGGCTGTGACGGTGTAGGGGCACCCAGGCAGGGGGCAAGGGATGGCCTCAGGCCCAAAACCTGGTGGGTGAGGAGCGGCTTTGGGTCTGAAGTCACAGGGTCTGGTTATGCCAGAGTGGAGCTTCCAACAGCCGGAAGTCCCTGAGGAGGGGGAGGCTCGGCCCTGCCCTGGCCATAACTCCTGGGGCCTGTACTCAGGCAGCACGTGAGGCAAGAATTAGCAGAGGAGTCCGAGCCCGGGTGGTGTCTACGCTCAAGGGAGGGGGCGGGCAGATGCCATCCCGGTGGGTATCAGATATGGGGGTGGGATGGGAGGTGCCTCTGCCCCTGAGCACTGCCGGGGCCTGAGTCCACAGAGACTTCCCTTACTGCTCAGCTTTGGGCGTGGCCCGGGGCTCAGGCTGGAATCTGGACCCTCTGAACCTGGGCAGGTCCCAGACCCCAGCAGACCTTCCCGAAAGCCTCCTCTATCTCTCCCTAGTGCCAGATCCCAGGGGGACTCCTCAGAGTAGAAGGGACAGGTCCTGCCTTGCCCCAGGCCGAGGAAGGCAGACCCTACAGGGCCTCCGGCAGGATCAGCCATCTCTGGGACTCTGAGCAGTTGTGAACAAGGGAGAATCCCTGGCAGCAGTGCTCTGGCCTGCCCAGCACTGAGCAGGAGCCACGAGGAGTTGTCCCTGGGATGGAGACCACGCTCTCTAGTCTCGGGGATGCTTGGCTGTGAGGGGTGCAGAGTGGCCCCGTCCTTGGCCTGGCTGGCTGCAGAAAAGGGTCAGGCCCCGGAGCGTGGCCTGGAGGGTGGGTTGGGGTGATGGACAGCGGTGAGAAGGCATGTGCGCGTTACCTGCAGCATCCTGAACTAGGGGGACGTCACTTTTTACTGGAGTTGGAGTGGCAGTGACGGGCGGGAAGCTGGGCGGGCTGCAGGTGGGATGGGCCAGGCCCCGGCCGGCTCCGAGAGTGGCACTGAGCAGAGAGTATGAGAGACAGGACGGAGAGAAGAGGCAGGGGAGGGGGGGGAGGGGCGGCCGGAGCGTGGCCGGCGAGAAGGATGGAGTCGCTGGCGGCTGCGGGGCCGTGCGGGCAGCCTCATCACCAGCGGCCGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGCCGGGCAGCCTGGAGAGGGTGGAGAAAAGCAGAAAAAAAAAAAAAAAAAGAAACCAAAACAAAGAACAAACAAACAGAAAGAACCAAAATGAGAAACCCGATGGCAGAAGCAGGTATGGCATGAAAATGTGTGCACGGATGAGCAGAGAGAGGGACACAAGAAGAAGGGGCAGGAGGAGAGAGAGGCGGGGCAGTGCCAGGGGTCACGTGGGCAGGTGTGCCGGGCAGGACCGGCGCTGGGCCCAGGCCGGGTGGGAGGCAGCGGAGGAAGGAGGCTGGGGCTGCGCTGCTCCCGCTGTGGCTCAGAGAGGACGGGCCCAGGGTCCTCTCCCGGAAACTGACGCAAAGGGCAGTGCCAGGGAGGCGGGAGGATGGCGGGAGGGGCCTCGATGACCCAGTCCCACAGACCAGCTGGCTCTGCTGCACGCCAGCCTGTCCTCCTCGGAGGCCGCGTGCCCCGGACCTTCTGTCCCAAGCTGCACCCAGCGGTGCTGGGCTTTGGGAGTGGGGCCTGGCCCTGCCAGCAGCCCCTGCCTGCCGCTCACCTGCCGCGGTGCTCTCGTTACCCACGGGGGTGCTGGAGCAGCTCCGGTCCATGGTGGATGACTCAGAGGACATGGCGCCTGGGCTGCAGCCAGTGTAGTCCATGCACTCATCTGTCTCAGCATCCATCAGGCCTGGGGGGCCCTGAAAGGACACGGGGGTCCCTGAGGAAGTGGGGCTGTGGGGTATGCTGCCCACAGAGGGCAGGCTGAGGCTCCATGCAGCACAGGCCTGAGAGTGAGCGTGGGACCATGATGCGTTCCCGCCACCCTGGCTGGGCTCTCACCTGGGGGGGGCTCTCACCTGGGAGGGGGGCACGCGGTCGAAGTTCTTCCCCAGCATCCTCCGCATGTGCTTCCGCGCGTGGGAGGTCATCTGGTGCTTGAGGAGGAAGGAGAACTGGCAGCCCTCCCGGATGCAGTGGAAGTGGCTGTTCACCTGGTTGTACTTGCAACCTGTGGACACAGCCCCACCTGGCATGAGCCCCCAGCTGGCCAGCGCTCATGGCTTCCAGGTCCTGTTGGGCACTGTTCTGGGCATGGGGGCAGTGTGGTCAGTAAGGCAGATGGTATCTGGGGAAAGGGCGCTGAGCCGAGGTGGCAGTCTTAGGAGGAAGGTCAGGAAGTCCAAAGCCCCCTGGCTGTCCAAACCCTGGGCCTCCTCTCCAGCCTGGCAGAGGCGAGTGACAATGCTGGGCAGGCCCCCATCCCCTGGCTCACACACAGGGAGGTGCACAGTTCCAAGGCAAGGGACCCTCATGGTCCCTGCACACTGGGCCAGCTACCTCCCAGGAAGCCACCTGTCCCCACATCTCTGCTGGGGAGCCCGGGGTGCTGTCTGCCCCTCTGCCCAGGCCCCAGCACCCACGGGGCCTCGCTCTGGGCCGAGAACAAACAGAGCAGGCGGGACTGAAACAGCATCATGGGGCAGGTGAGGGCCTGTCCGCTGCCATGGCGCCCAGGCCGGCCAGGTGTCTTCTGTCATCCCCCAGCTTTGTTTGGCCCCAACTATCGCCAAAAACACCACAAGTTGAGTAAATAATAGCAACTGCAGAATACCCTGACATCTGTAAACTGAGCCCAGGGACAGCACAGGCCGCAAGTGTTGACGCTTATTGGCATGGCTACCAGTCCTCTCCCTGGCCGAGAACTCCTTTTTGAATTCATACTTGAAGGCAAGGTTTGTTTCCTTTTTCTGGCAGTTGACTTTGAGGATGTCACCTTTCACTTTTGGAAGGACCAGAATGCAGCAGCCCCCACCCCTGCTGCCCTGACCACCAGGCCACAACGGGCCTTGCCTGCAGCCCAGGGGCCTCTGCTGGGCGGCCTGGCTCCCGCCTGCCCGTGGGTTCTGGTCTCTTCCTAGGGAGAGTCCTGCCTCATCAGCAGGCTGTGAACAGGGGCCAGGGGCTCAGCTCCCAGCAGCACGGCTACCTCTCAGGCATCAGTGGCCTCCCTTCCCAAAGCCACAGCACCCCTTCCTGGGTTCCGGGTCACGGGTGCTCCAGCTGAGCCCATGGAGAACTTGACCGTTCCCCATTAGATCTGAGTCGCCACCACTGTCACCACCCCCACCCCTGTGACAGCACCCAGCCTGGCACACAGCTGTCCCTCCATAAATAACTGCAGAATGGATGAATGGAAGAACAAACTGTAGCTCACTGCGGACAAAAACCTCATCATGAAAGCCATGGAAAGAGATCCCAGAGCAAAGAACGTTGAACTCCTAAAAATTCCCTGCTCGCCTTCTTGATAAGAAAAGGAAAACAGAACCACGCCCAGGCCCTGGATGCTCAAGATGAGGTCCCAGGGCGGCTGTCTGGGGGTGGAGGGGCGGTGCCCTGCGTGAGTCACCCCCACTCTTCTTGCTGGGCTTTGTGGGTTTGGACTGTTTCACAAGCTTGACAGTGCCTAGCCCGTGATATCTGGGACACCTTTAACAAAACGTGGAGCCTGCGGTGGGGAACAGGACGCGGGTACCAGGAGAGGCGGCCCAGGCCACGGGGGCCATGGTCTTGATGCCTGCTGCAAGTCCCTGCCCGCAGCCCCAGCCCTCGGTACCTAGCCTGCCACACTCCTCGCGCTTGGTGAAGTATTTGAAGCCATTGGCTGCCCGCCGCTCCGCCTTCTCATGCTTCTTGATGTGCCAGGGGAGCTTGGTGGTGATGTTGGTCACAAAATAGCAGCCGGTGCGGAGGCAGTGGTAGTGCCCACGCATTCGGAACTCGCAGTGCTGCAGGGAGACACGGGAGGGTCAGGACAGGCGGGTGACTTTCAAGAGCTCCTGCCTGCCCCGGGCCTGAGGCTGTGGTGGGCCCTTGGCACATGTGTTCTTCTC
TAGCCACCAAATGTCTGCCCTGCCCATTTCAGGCCAGGCCCCATAGGCCACCCGGAGTGGACAAAAACGGAGAGAGACTAAGGGCTGTGACGGTGTAGGGGCACCCAGGCAGGGGGCAAGGGATGGCCTCAGGCCCAAAACCTGGTGGGTGAGGAGCGGCTTTGGGTCTGAAGTCACAGGGTCTGGTTATGCCAGAGTGGAGCTTCCAACAGCCGGAAGTCCCTGAGGAGGGGGAGGCTCGGCCCTGCCCTGGCCATAACTCCTGGGGCCTGTACTCAGGCAGCACGTGAGGCAAGAATTAGCAGAGGAGTCCGAGCCCGGGTGGTGTCTACGCTCAAGGGAGGGGGCGGGCAGATGCCATCCCGGTGGGTATCAGATATGGGGGTGGGATGGGAGGTGCCTCTGCCCCTGAGCACTGCCGGGGCCTGAGTCCACAGAGACTTCCCTTACTGCTCAGCTTTGGGCGTGGCCCGGGGCTCAGGCTGGAATCTGGACCCTCTGAACCTGGGCAGGTCCCAGACCCCAGCAGACCTTCCCGAAAGCCTCCTCTATCTCTCCCTAGTGCCAGATCCCAGGGGGACTCCTCAGAGTAGAAGGGACAGGTCCTGCCTTGCCCCAGGCCGAGGAAGGCAGACCCTACAGGGCCTCCGGCAGGATCAGCCATCTCTGGGACTCTGAGCAGTTGTGAACAAGGGAGAATCCCTGGCAGCAGTGCTCTGGCCTGCCCAGCACTGAGCAGGAGCCACGAGGAGTTGTCCCTGGGATGGAGACCACGCTCTCTAGTCTCGGGGATGCTTGGCTGTGAGGGGTGCAGAGTGGCCCCGTCCTTGGCCTGGCTGGCTGCAGAAAAGGGTCAGGCCCCGGAGCGTGGCCTGGAGGGTGGGTTGGGGTGATGGACAGCGGTGAGAAGGCATGTGCGCGTTACCTGCAGCATCCTGAACTAGGGGGACGTCACTTTTTACTGGAGTTGGAGTGGCAGTGACGGGCGGGAAGCTGGGCGGGCTGCAGGTGGGATGGGCCAGGCCCCGGCCGGCTCCGAGAGTGGCACTGAGCAGAGAGTATGAGAGACAGGACGGAGAGAAGAGGCAGGGGAGGGGGGGGAGGGGCGGCCGGAGCGTGGCCGGCGAGAAGGATGGAGTCGCTGGCGGCTGCGGGGCCGTGCGGGCAGCCTCATCACCAGCGGCCGCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGCCGGGCAGCCTGGAGAGGGTGGAGAAAAGCAGAAAAAAAAAAAAAAAAAGAAACCAAAACAAAGAACAAACAAACAGAAAGAACCAAAATGAGAAACCCGATGGCAGAAGCAGGTATGGCATGAAAATGTGTGCACGGATGAGCAGAGAGAGGGACACAAGAAGAAGGGGCAGGAGGAGAGAGAGGCGGGGCAGTGCCAGGGGTCACGTGGGCAGGTGTGCCGGGCAGGACCGGCGCTGGGCCCAGGCCGGGTGGGAGGCAGCGGAGGAAGGAGGCTGGGGCTGCGCTGCTCCCGCTGTGGCTCAGAGAGGACGGGCCCAGGGTCCTCTCCCGGAAACTGACGCAAAGGGCAGTGCCAGGGAGGCGGGAGGATGGCGGGAGGGGCCTCGATGACCCAGTCCCACAGACCAGCTGGCTCTGCTGCACGCCAGCCTGTCCTCCTCGGAGGCCGCGTGCCCCGGACCTTCTGTCCCAAGCTGCACCCAGCGGTGCTGGGCTTTGGGAGTGGGGCCTGGCCCTGCCAGCAGCCCCTGCCTGCCGCTCACCTGCCGCGGTGCTCTCGTTACCCACGGGGGTGCTGGAGCAGCTCCGGTCCATGGTGGATGACTCAGAGGACATGGCGCCTGGGCTGCAGCCAGTGTAGTCCATGCACTCATCTGTCTCAGCATCCATCAGGCCTGGGGGGCCCTGAAAGGACACGGGGGTCCCTGAGGAAGTGGGGCTGTGGGGTATGCTGCCCACAGAGGGCAGGCTGAGGCTCCATGCAGCACAGGCCTGAGAGTGAGCGTGGGACCATGATGCGTTCCCGCCACCCTGGCTGGGCTCTCACCTGGCGGGGGGCTCTCACCTGGGAGGGGGGCACGCGGTCGAAGTTCTTCCCCAGCATCCTCCGCATGTGCTTCCGCGCGTGGGAGGTCATCTGGTGCTTGAGGAGGAAGGAGAACTGGCAGCCCTCCCGGATGCAGTGGAAGTGGCTGTTCACCTGGTTGTACTTGCAACCTGTGGACACAGCCCCACCTGGCATGAGCCCCCAGCTGGCCAGCGCTCATGGCTTCCAGGTCCTGTTGGGCACTGTTCTGGGCATGGGGGCAGTGTGGTCAGTAAGGCAGATGGTATCTGGGGAAAGGGCGCTGAGCCGAGGTGGCAGTCTTAGGAGGAAGGTCAGGAAGTCCAAAGCCCCCTGGCTGTCCAAACCCTGGGCCTCCTCTCCAGCCTGGCAGAGGCGAGTGACAATGCTGGGCAGGCCCCCATCCCCTGGCTCACACACAGGGAGGTGCACAGTTCCAAGGCAAGGGACCCTCATGGTCCCTGCACACTGGGCCAGCTACCTCCCAGGAAGCCACCTGTCCCCACATCTCTGCTGGGGAGCCCGGGGTGCTGTCTGCCCCTCTGCCCAGGCCCCAGCACCCACGGGGCCTCGCTCTGGGCCGAGAACAAACAGAGCAGGCGGGACTGAAACAGCATCATGGGGCAGGTGAGGGCCTGTCCGCTGCCATGGCGCCCAGGCCGGCCAGGTGTCTTCTGTCATCCCCCAGCTTTGTTTGGCCCCAACTATCGCCAAAAACACCACAAGTTGAGTAAATAATAGCAACTGCAGAATACCCTGACATCTGTAAACTGAGCCCAGGGACAGCACAGGCCGCAAGTGTTGACGCTTATTGGCATGGCTACCAGTCCTCTCCCTGGCCGAGAACTCCTTTTTGAATTCATACTTGAAGGCAAGGTTTGTTTCCTTTTTCTGGCAGTTGACTTTGAGGATGTCACCTTTCACTTTTGGAAGGACCAGAATGCAGCAGCCCCCACCCCTGCTGCCCTGACCACCAGGCCACAACGGGCCTTGCCTGCAGCCCAGGGGCCTCTGCTGGGCGGCCTGGCTCCCGCCTGCCCGTGGGTTCTGGTCTCTTCCTAGGGAGAGTCCTGCCTCATCAGCAGGCTGTGAACAGGGGCCAGGGGCTCAGCTCCCAGCAGCACGGCTACCTCTCAGGCATCAGTGGCCTCCCTTCCCAAAGCCACAGCACCCCTTCCTGGGTTCCGGGTCACGGGTGCTCCAGCTGAGCCCATGGAGAACTTGACCGTTCCCCATTAGATCTGAGTCGCCACCACTGTCACCACCCCCACCCCTGTGACAGCACCCAGCCTGGCACACAGCTGTCCCTCCATAAATAACTGCAGAATGGATGAATGGAAGAACAAACTGTAGCTCACTGCGGACAAAAACCTCATCATGAAAGCCATGGAAAGAGATCCCAGAGCAAAGAACGTTGAACTCCTAAAAATTCCCTGCTCGCCTTCTTGATAAGAAAAGGAAAACAGAACCACGCCCAGGCCCTGGATGCTCAAGATGAGGTCCCAGGGCGGCTGTCTGGGGGTGGAGGGGCGGTGCCCTGCGTGAGTCACCCCCACTCTTCTTGCTGGGCTTTGTGGGTTTGGACTGTTTCACAAGCTTGACAGTGCCTAGCCCGTGATATCTGGGACACCTTTAACAAAACGTGGAGCCTGCGGTGGGGAACAGGACGCGGGTACCAGGAGAGGCGGCCCAGGCCACGGGGGCCATGGTCTTGATGCCTGCTGCAAGTCCCTGCCCGCAGCCCCAGCCCTCGGTACCTAGCCTGCCACACTCCTCGCGCTTGGTGAAGTATTTGAAGCCATTGGCTGCCCGCCGCTCCGCCTTCTCATGCTTCTTGATGTGCCAGGGGAGCTTGGTGGTGATGTTGGTCACAAAATAGCAGCCGGTGCGGAGGCAGTGGTAGTGCCCACGCATTCGGAACTCGCAGTGCTGCAGGGAGACACGGGAGGGTCAGGACAGGCGGGTGACTTTCAAGAGCTCCTGCCTGCCCCGGGCCTGAGGCTGTGGTGGGCCCTTGGCACATGTGTTCTTCT
benign
2,403
Is the genetic variant on chromosome 1, position 11020666, gene TARDBP (TAR DNA binding protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?
benign
TTAAGCCACTGCATCCAGTTGAAACCATTCAAATTGTTTTCTAAGGAACTATGATTTGGGAATGGAGTGTGTGAGTATGTGCACTTTTAGAGTAAACTTGTATCATCCTTTCTAGGTCAAGAAAGATCTTAAGACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAAGTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCTAAGGTACTTGCGTCTGTGCTTTGGGAATTTTTGCCAACAAACTTCCTTAGAGGATTGTAAGATAAAATGTTAAACACACTTAGAAAAGATAGCGGCAGGGTGTGTTCATGAAATCCTTTTGTCTTGTTGAAGTCTTTGGCCCTTAGTGCATGCTGAATATTTTATGCTTGTTTGAAATATTTAGTTTATTACTTCTCCAAACTAAACCTTTGTTCATTTTGTTCTTCCTTTTCGCTATGGATGGAAAAGAGAAAAGGTTATTTGTCAAGTTAATAGTTTCTTACATAGTTATATGTTAAAACATAAAGAGAATCAGAATACATACATTAATTGTTATAAAGACCTAACTTTTTCCAAGCAAACAAATAACATTGGCTTATTTGGAACATCATCATCTTTGCCAAGAGATTGCTTATTTATTAATTTTCTCAAATCCAAACACAGTCATGTATCACATGGCAAAGTTGATCAGTCAGCAGCAGACCTCGTGTACAGCAGTGGTCCCATAGGATTATAACACTGTTTTTACTGTACCCTTTCTATGTTTAGATACACAAATACTTACCATCATGTTATAGTCGCCTACAGTGTTGAGTACAGTAACTTGAAAGTTTGTGGCCTGGGAGCAATAGGCTATACCATCTAGCCTAGATGTGGGGTAGGCTATGCTATCTGGGTTTATATGATGTTTGCACAACGACTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCATCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGTCGTTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGTGCCCACCAACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACTTCATGATCCGCCCATCTCGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTATTGCTCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCTCTTCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGATGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTGATTTTTGTATTAGTAGAGGTGGGGTTTCACCATGTTGACCAGGCTGGTTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACCACACCTGGCCACGATGATGAAATTGTGTAATGGCTCATGATGTATTTATATCCATCATTATGTGATGCATGACTGTGTACTTTTGTAACTTAAAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGAGGTGGCAGTGAACTGAGATCACACCACTGCATTCCAGCCCAGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAATATGTCCCAGGTAATTAGGTAATTTCTCTTGAACATTGCCCATGCAGCTAATTGCTATTCTTAGCTAAGTTTTCTGACCTTGTAAGACGTAGGGTGTATGGGCCTAGATGTTTGTGATACCTGTATCTGATATCACAAATACAACATTTTAAGAAATCTAAAAGTAAATATGCCTTTAGATAATTTTCAGTATGTGGCATTTGGGAATGTTATATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCGGGCTGGAGTGTGATGGCGCGATCTTGGCTCGCTGCATCCTCCACCTCATGGGTTCAAGCGATTGTCTTGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTGATTTTTTTGTGCTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAGTTTTTTGTATCTTTAGTAGATAACGGGGTTTCACTGTTTTGATCTGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCTGCTCCCGGCCCATTTTTTAAATTATTATTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTGGAACACAGTGGTGTAATCATAGCTCACTACACCCTAGAACTCCTGGGCTCAGCCTCCAGGGGGAGGATCCTCCAGCTTCAGCCTCCCAAGTAGCTAGGACAGATGCATGCCACTACGCCCAGCTAATGTGGCTTTTTTGTGGTTTTTTTTGATAGAGGTGGGGTCTCCCTGTGTTGTCTAGGCTGCCAGGCTAGTCTTGAACTATTGGCCTCACACAGTCCTCCCACCTTGGCCTCCCAAAGCGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTATGTCTTTTGAAAATCGACTGAAATATCACTGCTGCTGTTAATAAAACTAAAAGCTGTATTGGGGGTTTAAATGAAATGAGTGTTCATTGCTTATTTTTCCTCTGGCTTTAGATAAATTAATGCTTGTAATCTAAGTTTTGTTGCTACTTTAAATATATGAATCAGTGGTTTAATCTTCTTTGTTTACATCCCTTATTTCTTATAGATTGCGCAGTCTCTTTGTGGAGAGGACTTGATCATTAAAGGAATCAGCGTTCATATATCCAATGCCGAACCTAAGCACAATAGCAATAGACAGTTAGAAAGAAGTGGAAGATTTGGTGGTAATCCAGGTGGCTTTGGGAATCAGGGTGGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTAGTAATATGGGTGGTGGGATGAACTTTGGTGCGTTCAGCATTAATCCAGCCATGATGGCTGCCGCCCAGGCAGCACTACAGAGCAGTTGGGGTATGATGGGCATGTTAGCCAGCCAGCAGAACCAGTCAGGCCCATCGGGTAATAACCAAAACCAAGGCAACATGCAGAGGGAGCCAAACCAGGCCTTCGGTTCTGGAAATAACTCTTATAGTGGCTCTAATTCTGGTGCAGCAATTGGTTGGGGATCAGCATCCAATGCAGGGTCGGGCAGTGGTTTTAATGGAGGCTTTGGCTCAAGCATGGATTCTAAGTCTTCTGGCTGGGGAATGTAGACAGTGGGGTTGTGGTTGGTTGGTATAGAATGGTGGGAATTCAAATTTTTCTAAACTCA
TTAAGCCACTGCATCCAGTTGAAACCATTCAAATTGTTTTCTAAGGAACTATGATTTGGGAATGGAGTGTGTGAGTATGTGCACTTTTAGAGTAAACTTGTATCATCCTTTCTAGGTCAAGAAAGATCTTAAGACTGGTCATTCAAAGGGGTTTGGCTTTGTTCGTTTTACGGAATATGAAACACAAGTGAAAGTAATGTCACAGCGACATATGATAGATGGACGATGGTGTGACTGCAAACTTCCTAATTCTAAGGTACTTGCGTCTGTGCTTTGGGAATTTTTGCCAACAAACTTCCTTAGAGGATTGTAAGATAAAATGTTAAACACACTTAGAAAAGATAGCGGCAGGGTGTGTTCATGAAATCCTTTTGTCTTGTTGAAGTCTTTGGCCCTTAGTGCATGCTGAATATTTTATGCTTGTTTGAAATATTTAGTTTATTACTTCTCCAAACTAAACCTTTGTTCATTTTGTTCTTCCTTTTCGCTATGGATGGAAAAGAGAAAAGGTTATTTGTCAAGTTAATAGTTTCTTACATAGTTATATGTTAAAACATAAAGAGAATCAGAATACATACATTAATTGTTATAAAGACCTAACTTTTTCCAAGCAAACAAATAACATTGGCTTATTTGGAACATCATCATCTTTGCCAAGAGATTGCTTATTTATTAATTTTCTCAAATCCAAACACAGTCATGTATCACATGGCAAAGTTGATCAGTCAGCAGCAGACCTCGTGTACAGCAGTGGTCCCATAGGATTATAACACTGTTTTTACTGTACCCTTTCTATGTTTAGATACACAAATACTTACCATCATGTTATAGTCGCCTACAGTGTTGAGTACAGTAACTTGAAAGTTTGTGGCCTGGGAGCAATAGGCTATACCATCTAGCCTAGATGTGGGGTAGGCTATGCTATCTGGGTTTATATGATGTTTGCACAACGACTTTTTTTTTTTGAGAGAGAGAGTCTCACTCTGTCATCCGGGCTGGAGTGCAGTGGTGCAATCTCAGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGTCGTTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGACTACAGGTGCCCACCAACACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACTTCATGATCCGCCCATCTCGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCTTTTTTTTTTTTTTTGAGATGGAGTTTCACTCTTATTGCTCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACTGCAACCTCCTCTTCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCAAGATGCTGGGATTACAGGTGCCTGCCACCACACCCGGCTGATTTTTGTATTAGTAGAGGTGGGGTTTCACCATGTTGACCAGGCTGGTTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGGTGTCAGCCACCACACCTGGCCACGATGATGAAATTGTGTAATGGCTCATGATGTATTTATATCCATCATTATGTGATGCATGACTGTGTACTTTTGTAACTTAAAACGTTACTCTTCACTGAAGCCTTACAAGAAAAAGAAATGCTGATGGAAAAAATTAAGGGTACGTCTACTTTTTAATGGTTCACTGCTATCCAAGGCGAATGATTTTGTTATATCCCTTACCTTAATGTTTTTTTCATTGTTCATAACATATTTCTGAGTTTTTTTCTTCCTTTTGATTTGATCAGCAAAGCCAAGATGAGCCTTTGAGAAGCAGAAAAGTGTTTGTGGGGCGCTGTACAGAGGACATGACTGAGGATGAGCTGCGGGAGTTCTTCTCTCAGTACGGGGATGTGATGGATGTCTTCATCCCCAAGCCATTCAGGGCCTTTGCCTTTGTTACATTTGCAGATGATCAGGTATTTTTCTCCTTAACGATATGTCCCGGCCGGGCGTGGTGGCTCATGCTTACAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAATACAAAAAAAAAAAAAAATAGCTCGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGCCTGAGGCAGGGGAATCGCTTGAACCCAGGAGGCGGAGGTGGCAGTGAACTGAGATCACACCACTGCATTCCAGCCCAGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAATATGTCCCAGGTAATTAGGTAATTTCTCTTGAACATTGCCCATGCAGCTAATTGCTATTCTTAGCTAAGTTTTCTGACCTTGTAAGACGTAGGGTGTATGGGCCTAGATGTTTGTGATACCTGTATCTGATATCACAAATACAACATTTTAAGAAATCTAAAAGTAAATATGCCTTTAGATAATTTTCAGTATGTGGCATTTGGGAATGTTATATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCGGGCTGGAGTGTGATGGCGCGATCTTGGCTCGCTGCATCCTCCACCTCATGGGTTCAAGCGATTGTCTTGGCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCTGGCTGATTTTTTTGTGCTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCAGTTTTTTGTATCTTTAGTAGATAACGGGGTTTCACTGTTTTGATCTGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCTGCTCCCGGCCCATTTTTTAAATTATTATTTTGAGACAGGGTCTCACTCTGTTGCCCAGGCTGGTGGAACACAGTGGTGTAATCATAGCTCACTACACCCTAGAACTCCTGGGCTCAGCCTCCAGGGGGAGGATCCTCCAGCTTCAGCCTCCCAAGTAGCTAGGACAGATGCATGCCACTACGCCCAGCTAATGTGGCTTTTTTGTGGTTTTTTTTGATAGAGGTGGGGTCTCCCTGTGTTGTCTAGGCTGCCAGGCTAGTCTTGAACTATTGGCCTCACACAGTCCTCCCACCTTGGCCTCCCAAAGCGCTAGGATTACAGGCATGAGCCACCATGCCCAGCCTATGTCTTTTGAAAATCGACTGAAATATCACTGCTGCTGTTAATAAAACTAAAAGCTGTATTGGGGGTTTAAATGAAATGAGTGTTCATTGCTTATTTTTCCTCTGGCTTTAGATAAATTAATGCTTGTAATCTAAGTTTTGTTGCTACTTTAAATATATGAATCAGTGGTTTAATCTTCTTTGTTTACATCCCTTATTTCTTATAGATTGCGCAGTCTCTTTGTGGAGAGGACTTGATCATTAAAGGAATCAGCGTTCATATATCCAATGCCGAACCTAAGCACAATAGCAATAGACAGTTAGAAAGAAGTGGAAGATTTGGTGGTAATCCAGGTGGCTTTGGGAATCAGGGTGGATTTGGTAATAGCAGAGGGGGTGGAGCTGGTTTGGGAAACAATCAAGGTAGTAATATGGGTGGTGGGATGAACTTTGGTGCGTTCAGCATTAATCCAGCCATGATGGCTGCCGCCCAGGCAGCACTACAGAGCAGTTGGGGTATGATGGGCATGTTAGCCAGCCAGCAGAACCAGTCAGGCCCATCGGGTAATAACCAAAACCAAGGCAACATGCAGAGGGAGCCAAACCAGGCCTTCGGTTCTGGAAATAACTCTTATAGTGGCTCTAATTCTGGTGCAGCAATTGGTTGGGGATCAGCATCCAATGCAGGGTCGGGCAGTGGTTTTAATGGAGGCTTTGGCTCAAGCATGGATTCTAAGTCTTCTGGCTGGGGAATGTAGACAGTGGGGTTGTGGTTGGTTGGTATAGAATGGTGGGAATTCAAATTTTTCTAAACTC
benign
2,473
Is the genetic mutation found on chromosome 1 at position 11112907, within the gene MTOR (mechanistic target of rapamycin kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
AACCAAATCCACCACCATCTGGTGCCAGCAGAACTGGCTGTCCTAGTTCCCTTCTGTATGCTACAGACAGCATATAGTAGCCACTTGAGAATTGTTAGGGAGGTGGGCCCTGAGAATGAAGCCAGTAAGTCTCAGCACACTTCGTTTGAGACCAGCCACCAGTATAAGCTCCCCCAGAGACTGTGTGTCCTATGAGCCTGGTGATTCAGGCATTCACAAATCCTGTCACAGTGTCCATGTATGACATTATAAGCCAGTATCCCAATTTCTTGCCTGAAACACCCTTTTCCTTTCTACCCATCAGATTCCACCCATCCAATAAGGATAAATTACCCTTTGGCAAGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACGTGGTGAAACCCTATCTCTACTAAAAATTCAAAAAAATTAGCTGAGCATGGTGGCATGCGTCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCAGAGGTTGCAGCGAGCCGAGACTGCGCCACCATACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAGAAAAAAAAAAAAAAAAGAAAGAAAAATTACCCTTTGTCAGGTGAAGTGATGGTTAGATGCCACCAACCCAAGTGCTCTCTTCGCAGCTACGGTTCACAGTGAAGTCCCCTTTTCTGAATCTCCACAGCCCTACTCCACACGAAAGCACCCGCAGGCTCCACGGCAGAGTCTCCTGCTCTCTGACTATTTCACGCAGGTTATGGTCAATTCTGTAATGCTTTCTGTGCTTCTTCAGGCGACCACTGTACCTCACATTTTCTTTTTGCACCCCTAGACATTATTTGGCTTAGTTTATTAACTAGTTGTAAGTGCTCTGTAAACATTTGTAGAAAAGATATACTTTTTTACACCCTAACAGTAATTCCCAAAGTATGAACTATGTAGGGTGTTGCTAAATGTCACGAAGGAAAAAAGGGGTGGGATGGGGAGTGCGGGGAAGAGGGGAGGGCTAAACAAAGTTAAACAATTTTACTCAAAAACAAACAAACAAACAAACAAAAAAACCCCCCAAAACCAGTAACTTCAATGCTGTGTGTGCTGGAAACTAATACAAATAAAATAAAAGTTAAACAGCTTGACTCAAACACTCCTGAGAGGTTTCCACACACAAAAAGGACTCTGGCTCTCAGAGGGACACAAGTCTTCTAGACCCCTGCTCTGTGAGTCGCGCTCCTAGAAACACTGTTCCATGTGGTTCCAGGGTTCCTCCCAGCAACGCAAATAAATTTCTGCTGCTTCCATCTTCCCATTTCTGAGCTATTATCAATGCTTGAGGACCAAGGTAATACTGTTAATAATTATTCCAACCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCTGGACAAGGGGGAGAGCCTCTGCAGCCTCCCACGGGATGCACCCACTGACTGAAGCCCACCCCACTCTAGAAACACTCTGCACAAGGGGGAGAGCCTCTGTAACGTCCTGCGGGATGCACCCACCGACTGAAGCCCACCCCACTCTACAAACACTCTGCACAAGGGGGAGAGCCTTTGCGACCTCCCGTGGATGCACCTACCGACTGACTGGCCAGCAGAGTAGGAATCCGTCCTCGTTCGGGATCGCTTGTTGCCTTTGGTATTTGCTAGGGAGAGAAATAAAGAGTATTGAAACATGCTTCAAATTTTGACTTGAAAGAAACTTGGTTATTTTCTTCCAGTCATAAAAATATAATTGTTCGTAAAGCTATAGCCCCAAAAAAAGAGATGACAGACATATTACTCAGGAATAAGTGGGTGGGTATTAGCATGGGATGTGAAACCCAGGGGGACACTCTATACTGTTGATTTGGACTTAGACAATGTAATACAGATAATATAAGGTCAAAGTATGATTTAATTTCAATGGATTAGAAGCTCTTTTGGTGAACATCCCCTAAGGTGGCAGAACAAAGGGTAGATGAAGATACTGCTGTCCCAAATCATAACTGTTTGCGTTTCTTATTAAAATTTCAGCTTACTACTCTATATAAAGCCCAGAGAAAAATCACTAGGATACTTGGTTAATACTGAAGAATATTTTAGTATCTAAATTGATAATGGCATTTTCTGTTTTAGTTAATAAAAATACTTGAAGTTCTTTTCCAGGTGTCAGAGTTACTCTGTGCAAATGTAATGCAATAGCTCTGCAATGTATCCCAGGCTGCAGGCTTGAAGGGGCATAGGTTTGTAAAATGTTATGTGCTGGATATTGCTAATTTGGGAGGCTGCCAACCCCAGCTTCCACACACTTGATTTTATTTTTTATTTGTTTTCTTTTATTTTTAAAATTAAATTTTTTATTTTTTTATTTTTTTGAGACAAGGTCTCACGCTGTCACCTAGGCTAGAGTGCAGCAGTGGCATGATCATAGCTCACTGTGCCTCAACCTCCCAGGCTCAGGTGATCCTCCTGCCTCTGCCTCCTGAGCAGGTAGGACCACCGGCATGTGCCACTGTACCCACCTTAATATGGTTTGGCTGTGTCCCCACCCAAAATCTCATCTTGAACTGCAATTCGAATTGTAATCCCCATGTGTTGTGGGAGGGACCTCATGGGAGGTGATTAGATCATGGGGATGGTTCCTCCATGCTGTTCTCGTGATAGTGACTGAGTTCTCATGAGATCTGGTGGTTTTATAAGGGGCTTTTCTCCCCTTCACTCTGTACTTCTCTCTTCTGCCCCCAAGTGAAGAAGGAAGTGTTTGCTTCCCCTCCCACCATGATTGTAAGTTTCCTGAGTTCTCCCCAGCCAAGCAGAACTGTGAGTCAATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGCAGTTCTTTATAACAGCGTGAGAACAGACTAATACATGCCTAATTTTTTCAGTTTTTGCAGAAAGGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAACTCCTCTGCCTTGGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCCACTGAGCTCAGCTCCCAGGCACTTGATGATACTCACTGTCCATCAGCCTCCAGTTCAGCAAGGGGTCATAGACAAAGGCTTCCAGCACGGCCATGACACTGTCCTTGTGCTCTCGCAGCACCTCCATCACTGTGTGGCATGTGATTCTGTAGTTGCCATCCAGGCCTGTAACCTAGAAATGGGACAGAGCCACTCACCACAGGAGTTACTAACTCTCCACCCAAAGCAAGCCGAGGGGGTCTGTTACCCTCACTTAGGAAGCAGACACAGGCCATGTTGACGTATCAGGGTGAGAATGTCTTAGGAGAAGGAATCAGGGCAGGACTGTGATCCACAGGAAACCAGGTCAGAAGTGAAGTGGTAAGCCTTTCATAGATAGGTCATTTCTAACACAATAGGAAATAACAGAAAACTGCTACAAAAATCACAAAGGCACTTTGGAGAACTGATGGGCTCTAACAAGCGTGTTCTCAGAAGGCTGTAACTGTCCTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGGAGCCAGGTGGAGCA
AACCAAATCCACCACCATCTGGTGCCAGCAGAACTGGCTGTCCTAGTTCCCTTCTGTATGCTACAGACAGCATATAGTAGCCACTTGAGAATTGTTAGGGAGGTGGGCCCTGAGAATGAAGCCAGTAAGTCTCAGCACACTTCGTTTGAGACCAGCCACCAGTATAAGCTCCCCCAGAGACTGTGTGTCCTATGAGCCTGGTGATTCAGGCATTCACAAATCCTGTCACAGTGTCCATGTATGACATTATAAGCCAGTATCCCAATTTCTTGCCTGAAACACCCTTTTCCTTTCTACCCATCAGATTCCACCCATCCAATAAGGATAAATTACCCTTTGGCAAGGTGGGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACGTGGTGAAACCCTATCTCTACTAAAAATTCAAAAAAATTAGCTGAGCATGGTGGCATGCGTCTGTAATCCCAGCTACTTGGGAGACTGAGGCAGGAGAATTGCTTGAACTCGGGAGGCAGAGGTTGCAGCGAGCCGAGACTGCGCCACCATACTCCAGCCTGGGTGACAAAGCGAGACTCTGTCTCAAGAAAAAAAAAAAAAAAAGAAAGAAAAATTACCCTTTGTCAGGTGAAGTGATGGTTAGATGCCACCAACCCAAGTGCTCTCTTCGCAGCTACGGTTCACAGTGAAGTCCCCTTTTCTGAATCTCCACAGCCCTACTCCACACGAAAGCACCCGCAGGCTCCACGGCAGAGTCTCCTGCTCTCTGACTATTTCACGCAGGTTATGGTCAATTCTGTAATGCTTTCTGTGCTTCTTCAGGCGACCACTGTACCTCACATTTTCTTTTTGCACCCCTAGACATTATTTGGCTTAGTTTATTAACTAGTTGTAAGTGCTCTGTAAACATTTGTAGAAAAGATATACTTTTTTACACCCTAACAGTAATTCCCAAAGTATGAACTATGTAGGGTGTTGCTAAATGTCACGAAGGAAAAAAGGGGTGGGATGGGGAGTGCGGGGAAGAGGGGAGGGCTAAACAAAGTTAAACAATTTTACTCAAAAACAAACAAACAAACAAACAAAAAAACCCCCCAAAACCAGTAACTTCAATGCTGTGTGTGCTGGAAACTAATACAAATAAAATAAAAGTTAAACAGCTTGACTCAAACACTCCTGAGAGGTTTCCACACACAAAAAGGACTCTGGCTCTCAGAGGGACACAAGTCTTCTAGACCCCTGCTCTGTGAGTCGCGCTCCTAGAAACACTGTTCCATGTGGTTCCAGGGTTCCTCCCAGCAACGCAAATAAATTTCTGCTGCTTCCATCTTCCCATTTCTGAGCTATTATCAATGCTTGAGGACCAAGGTAATACTGTTAATAATTATTCCAACCCAGACACCATTAGTGAGCTGATATTCAGACATACTTTAAACTGTGTTTTTACAGATAGATTAAAATCAGATAGTTTGATAAAAATCTCAGAGCTTCAGGTACCCACTCCATGTGTGAAACAGTAAATAAAAAACATATTAGCTGCTTGGTGCTCAGTAAATATTTCTAGACCAAGTATTTGAAGTTCAATTAAATGCTTATCAGGTGATAAGCTAGCAGTAATAGCACCTTTGCAAAACTATCACTGTCAAGAACCACGAGAAAACTAGATTTACTTCCTTCATGTTCAGTAGCCATTACCACTTTAAGTTATGCCTCCTACTGTCAATAACAAAGCCCATCCCATTCTAGAAACACTCTGGACAAGGGGGAGAGCCTCTGCAGCCTCCCACGGGATGCACCCACTGACTGAAGCCCACCCCACTCTAGAAACACTCTGCACAAGGGGGAGAGCCTCTGTAACGTCCTGCGGGATGCACCCACCGACTGAAGCCCACCCCACTCTACAAACACTCTGCACAAGGGGGAGAGCCTTTGCGACCTCCCGTGGATGCACCTACCGACTGACTGGCCAGCAGAGTAGGAATCCGTCCTCGTTCGGGATCGCTTGTTGCCTTTGTTGGTATTTGCTAGGGAGAGAAATAAAGAGTATTGAAACATGCTTCAAATTTTGACTTGAAAGAAACTTGGTTATTTTCTTCCAGTCATAAAAATATAATTGTTCGTAAAGCTATAGCCCCAAAAAAAGAGATGACAGACATATTACTCAGGAATAAGTGGGTGGGTATTAGCATGGGATGTGAAACCCAGGGGGACACTCTATACTGTTGATTTGGACTTAGACAATGTAATACAGATAATATAAGGTCAAAGTATGATTTAATTTCAATGGATTAGAAGCTCTTTTGGTGAACATCCCCTAAGGTGGCAGAACAAAGGGTAGATGAAGATACTGCTGTCCCAAATCATAACTGTTTGCGTTTCTTATTAAAATTTCAGCTTACTACTCTATATAAAGCCCAGAGAAAAATCACTAGGATACTTGGTTAATACTGAAGAATATTTTAGTATCTAAATTGATAATGGCATTTTCTGTTTTAGTTAATAAAAATACTTGAAGTTCTTTTCCAGGTGTCAGAGTTACTCTGTGCAAATGTAATGCAATAGCTCTGCAATGTATCCCAGGCTGCAGGCTTGAAGGGGCATAGGTTTGTAAAATGTTATGTGCTGGATATTGCTAATTTGGGAGGCTGCCAACCCCAGCTTCCACACACTTGATTTTATTTTTTATTTGTTTTCTTTTATTTTTAAAATTAAATTTTTTATTTTTTTATTTTTTTGAGACAAGGTCTCACGCTGTCACCTAGGCTAGAGTGCAGCAGTGGCATGATCATAGCTCACTGTGCCTCAACCTCCCAGGCTCAGGTGATCCTCCTGCCTCTGCCTCCTGAGCAGGTAGGACCACCGGCATGTGCCACTGTACCCACCTTAATATGGTTTGGCTGTGTCCCCACCCAAAATCTCATCTTGAACTGCAATTCGAATTGTAATCCCCATGTGTTGTGGGAGGGACCTCATGGGAGGTGATTAGATCATGGGGATGGTTCCTCCATGCTGTTCTCGTGATAGTGACTGAGTTCTCATGAGATCTGGTGGTTTTATAAGGGGCTTTTCTCCCCTTCACTCTGTACTTCTCTCTTCTGCCCCCAAGTGAAGAAGGAAGTGTTTGCTTCCCCTCCCACCATGATTGTAAGTTTCCTGAGTTCTCCCCAGCCAAGCAGAACTGTGAGTCAATTAAACCTCTTTCCTTTATAAATTACCCAGTCTCAGGCAGTTCTTTATAACAGCGTGAGAACAGACTAATACATGCCTAATTTTTTCAGTTTTTGCAGAAAGGGGTCTTACTATGTTGCCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCAACTCCTCTGCCTTGGCCTCCCAAAATGTTAGGATTACAGGTGTGAGCCACTGAGCTCAGCTCCCAGGCACTTGATGATACTCACTGTCCATCAGCCTCCAGTTCAGCAAGGGGTCATAGACAAAGGCTTCCAGCACGGCCATGACACTGTCCTTGTGCTCTCGCAGCACCTCCATCACTGTGTGGCATGTGATTCTGTAGTTGCCATCCAGGCCTGTAACCTAGAAATGGGACAGAGCCACTCACCACAGGAGTTACTAACTCTCCACCCAAAGCAAGCCGAGGGGGTCTGTTACCCTCACTTAGGAAGCAGACACAGGCCATGTTGACGTATCAGGGTGAGAATGTCTTAGGAGAAGGAATCAGGGCAGGACTGTGATCCACAGGAAACCAGGTCAGAAGTGAAGTGGTAAGCCTTTCATAGATAGGTCATTTCTAACACAATAGGAAATAACAGAAAACTGCTACAAAAATCACAAAGGCACTTTGGAGAACTGATGGGCTCTAACAAGCGTGTTCTCAGAAGGCTGTAACTGTCCTGATCCCATTTGGAAGCAGCTCGTTCCCGATATCCACTCACCTCCATAGCATTGGTCAACATTCTTGTTAGTCTAAATGGAATCTTCTCTGGAAACTTCTCTCGGGTCATAGCAACCTACAGAATAATAAATGGGAAAAGCCAAATCAATGTTTATTTTCTTTACCTGGAGCCAGGTGGA
benign
2,535
Evaluate the clinical significance of the mutation at chromosome 1, position 11130640 in gene MTOR (mechanistic target of rapamycin kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
benign
TGAAACAACTAGTTATTCTTCTAGGCAAAGATCAATTCTTTTAACTTGTTTCGGTTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGGCAGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTC
TGAAACAACTAGTTATTCTTCTAGGCAAAGATCAATTCTTTTAACTTGTTTCGGTTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTCNNNNNNNNNNNN
benign
2,602
Evaluate the clinical significance of the mutation at chromosome 1, position 11130694 in gene MTOR (mechanistic target of rapamycin kinase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?
benign
TTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGGCAGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTCTTAGCTGAGGAGCAGGCAAGGATGCAAATCAGAAAAACGCTGAACAAGAACAGA
TTGATGCTCTGAAATGGTTCATTCCCTTCCCTTTAGTTTCTAAAAGAAAATAAAGAAAATATGGACACTTGACACTGGGACCGAGCCCTACTTCCTTAGCACTGTATTAACACACACTGCCTTGTGACACTGAACACAGCATGCTTGTAAGAGGAGACACACAGAAGAGAGACTTGGAGCCACCTTCACCTGTAACCAAGTATCCTCACCTGTAGCCAGGTATCAATCTGGATGGCTTTCACCCCCTCCACTAAGGCCTCATTGACATCTGGCCAGTGACCATAATCAAACCATAAGGTGAGAACTCTGAAAAAGAAATGAGAAAGTCACAGAAAATTTAGTTTCCCAGTTTTTGCCTGCCTGTTTTTCATCTCTAAGGCTCCTGAGAAGAGAGCTGGCAGGGACTCCAACCAGTAACTCTCAAATGTGTTTGGCCTCCCATGGGAGCAGGTGTCTGTGATGGGTGGCAGTGCTCTTGACTGAACACCGTAAGAGTCACCCTGAGCAAATGAGCATTTCATCCCAGGTCACCGAGGGGTCACCATGGCATGTATGCAAACATCAAACAGACGAGCCAGGATAACCTTTAGAAAGCCACAAGTCTGCACATGTAAGAGTCGCTGTACGGCAGAGGCAACAGGGACACCTGGCTCTTAGCTGGCTGGAGATCCTCAAATGAAGGAGGATGTGGACCTTGTCACCTTTACCCTCTGGGTTAACTGATTTGAGTCATTTGTTTAGACCTCTCCAAGTTGCTGAGGGATTTTAGAAATACTGTGACTTCAATAGGCAACAGGGTGGTCAGAAAAAAAGAAATATTGTGATTAACAGATGGGTTAATAATCCCTCCATAATAAACCACACATGGAGAGTTCTCACTCCACTTCTCCTCCTCACTCTCTGTAGGTTTCACCCACACAGGTGGGGCCCAGTCAGCTGTTACTCCTTAAATGCAGTGCAGAAAAAAGGCACATACATCGATCTTGGGTGTCCTGATCAGGGTCAGGAAGGGAAAGAGGACTTTTACGTGTGACTTCTAGGTCTTGCCATTAACATGGCCTACCAGAGTTGCATCCTTCCCTTCTCTGATACCTGAGTGTATCCTGGAGGTTGTTGCCTCGTGACAAGGAGATGGAACGGAAGAAGCCCTGGACGGCAGGCACCGTGTACATCAGGAGGGTTTTGGACAGATCCTGTTGGAACACACACGTGTTAGCGACACTCTTGCCTCTGCTTTCTCATCTGTAAAATGGGCATAAGAGCATACTAACTGTACCTACTTCAAAGGGTGGTTATAACAATTAAATCGGTTAATGCATGAAAAATCTTTAATCATTACCTGGCACATAGCAAAGACTCAATAAATGGCAACTGTATCATAACTGTTATTATCTTGGGCTGACAGTGGCTTCCTGAACAGGATGGAGGGAGGAGGTGGAGCTGAGGCTCTGAACACCCGGATCTCTGGGCCTGCCAGCGGCCCTGGCGCATTCTGAACTGACAGCCCAAGGGGAAGGGGAAGAAGTGGAAGTGGAGAGAAAAAGGCAGAGGATGGACCTCCCAAGCCCCATCCTCAGAGTGGACCCGCAGCTGTGTACAGCCACCCACACACAGGTGCAGCACGTAGAGAATGAGCTCGTCCACAGGGAAGCTTGACAAGGAGCTTGCTCTTCAGCATAGAGGCTGCGTCAGCTCCCCAAACACAAATATTCACACACAAAGCCCTATCTCAGGCAGTGCTGGATGGTAGATAGGCAGTATTTTCCAGCTCCATCTGGCACTTCAGATACAGCCTCAGGTTCCTTTTAAGCTTAACAACGATTCCATTTCTCAGAGAGCCTGGCACCTTGGTTGGTTGTTAATAAGGAAGAAGGGAAGGGTACCTCAGTGACCTTCTTCTGCAGCGGCGATGGGGTGGGGCTGTTCTCGGTGCTCTCGGCCTCGCTCTCACTGTTGCTGCCCTCGGTGCTGGCAGTGGTGGTGGCAGTGGCGGCCGTGGTGGCGGCAGTGGTGGCGTTGGTGATGTTGGCCCCGCTGGCATGACGCAGTTTCTTCTCATCGCGGGCTTGGTTCTGATGTTTGTAGTGTAGCACAGCTTCGAAGTTCATCACTGCCCACGCATGCCAGGCCTGGTTGGGGAGAAAGGCAAGGACAGACACTGGAGCTGTGACCAACAGCAGGGCTCAGAGGAGCGCAAGGTCGATGCTGAGGAACAGCTGCTCCTGCCTGTTCTGTGTGTCCATAAAGCAAACACTTCAAGGAGACACTCAGAAATGGCTGTTTTACTAAATTCAACATGATCCACTCACTTTGTGGAGCACTAACTATATAACGTACTATGAGTGCACTGCGAGAAGGGCACAGCAAGAGGAGCAGGAGAGAGCTCTTGCCTCAAGGGATCTCCCGGCCTCCTAGGGGAGCTCACGCACAAACCTGAAGACCTAGGTACTCTGCAAGGCACAATGGGAGTAGCAAGGACAGGCATTTGGAAAGCTTTGTCAAGAAGAGGGATTTGGGGTAGGTCTGGAAGAGAGCTGCAGAAGGGCAAGGAGGGAAACAAGAAGGCAGCGGTGGGGACTACTTGGCAAGGGGGAAGAATAAGGCCAGAGATGTGCAGATTGGTTCACGGGAAACAAGCCCATGAATGTGACCGTGCAGGGGATACATGCAGGCGAGGAGTGAGAGCGAGGCCAGCAAAGCACGCCTGGAGCAGGCACAGGGCTGGCACTTTCACCCAGAAAGCAGAGCTGCACTGGGTATAAAGTGTACATTTAGGGGAGAGCAGAAATGGCAAGCAGAAGTGGGGGCAAGCAGCAGTCATCACAATATTTCAAGGGAGCAAAGTTTTGACAGGTCACCAGATAGTGGACAAAGGAAGACATGAAGAGCATAGGAGCCTGACAGAGAAAGAATCTCACCCATCTGCCTGGTCCCAACACCTAGCCCACGGCCTGACAGAGAACCAGTGCTCAATGCTTGAAGGAAGAACCGCTGGTGCTTATTTGGATAAAGGAATACTACTCTCTCTGGGGTTCTGAGCGGCAATGACTCTACAGCGTACCACCACTTGGTTTAGCGAGTGTGAGGCAGAGTTTGCTTCCAGGCATGGTAACTTTGCAGTGATAGTAGGACACTACGTGACCCATTAATAGCTGAACTTTCTGAATAATTGGGAAATTCGTTTGTATGCCTTGCCAAAAACCTTGAACACAGGTGTATCCGTTTTCTCAACTAAGGAGAATAGATTGATCACAACTAACCTTTACTTGATGAGTAAGAATTCTACAATGACCCAGGTTTCAGTTTTCCCATACCTTCATTTATTCACTGAATATCTCTTGTGTATCTGCTATGTGCCTGGCAATGACCTGGGGTCAAGGTGAACAAGACAAACAGTCCTGGCATGCATACAGGGCCATGACGTTGATGGTAGAATACATCATAAAACAAAAGGGACCCACATTAGGAAAAGCTTTTAAAAACTAAAACTAAAGTTCCTGAAACCAACTTTTTTCTTGTGATTTGCTTACTTCCTAAAAGCTTAATGAATGAAAGTAACTCTGGTTAGAATACAACTCTGATTAATAAGCTTCCAGTTAATAGTGTTTACCGGATGTATTTTCCAGCTTTGGACATGCAAGCTGTCCTAGAGAGAGTATTACTCTTATGACAAAATGGACATTTTTCAAACCAGAATGAAGCATGCCTAAACAAAGGTAAGATCTGTATTATAAGTGCTTCTGCAGTCCTCAGATACAAGTTTAGATTTCAGAGAGATTAATTCACAAAGTATTGGCAAGCCAAGGAAATACTGGAAAGATGTCAATGACATCTGCCACACCAAGTAGTTACCAGAAAGCCTCTCAAAAAGAAATAAGAAAGTATATTCTCACCAAAGATATACACTTCCAAAAATCACCCCTCCATCAATCACATCTTTTATATATTTTCTAATTCTGTTTATCTCTTTCAAAAGTTTCCTGTAACATAACAGGATGTTACTTGGATCTTTCCAATAAAAACAAAGAAAGTTAAGTTCTTAGCTGAGGAGCAGGCAAGGATGCAAATCAGAAAAACGCTGAACAAGAACAGANNN
benign
2,608
Variant chromosome 1, position 11145054, gene MTOR: benign or pathogenic? Disease(s)?
benign
CAAGAGCCAAATTTCCACTATAAATGTAATGCTTTACTTTCAGGCCTTGGACCACATTTTTCCATCCCATGAAGTGTGACAACAATGATTTCGAAAGTTAAAATAACAGAAAAAAGTACACTGAGTGATTGTTTTTTGTGACTTCTCACCAATAGTTAGGTTCTCCCAGATGCTGAAATAATTTGGCCTCCTGTAAGCCAAAAAGCATCTTGCTGCCTCAAGATAGGAAAGTCACGAAGGCTTAAGGTGGTGGCAGTGTCCTGGACCCAGTAAAGTCAGACAGGCATCTCTCTTCCCAGGACTCATTCCATGCCTCCCCTCTCCTCTAAGTCTACATTTGGATCAAGTCCCACTTGTCAGACTGTCAGAAGGTTCATCAGATCTCTGCTGTAGAAACTCTTTATTATAGGCATTTCAAAGAATTGGGGTGTGTACAAATCAAGTGGGAAATGCTTATTTGTGGAATTCTTTCTGGTGCCCAGGAGACAATTTTCCATCAAAACATTCACTGGGCATTTCATAATTACTAATAAAACATGTAAAAGAACTGTATGTGCTCATTTCAGAGCCATAAATGACTGTATTCATAGATGTTCCTTTGCCCATTGCTCTTTCCTGTCCAGGGGAATGTGCCCTGAGCTTCCTAGGCAGGAATGTGTTTGGAGTCAAAAGGTTTTGTCGCAGCCTACTGAGACGCCTGGAAGCACAAACTTCGATTGGTCTGAAGCGAGAATTTGGAATTAGCAATTAGGTGGGGATCTAGTTGAGAGGAAATGGTTTATAATTGCGGGGATGGATTATGATAGGTAGGGAGACAAATGGTTTCTGGAGTGGTAAAGGCTTTCTCTCTTTTTTCTTTTGCTGATGAACTTCCTATCCTACCCACTCAAGGAATGGGATAACTGGCCATCCTTCCCAGAACATTTAGACTCCTGACTCCCAGACCTGGAGTGACAGTTTCTCATGTTAAAATGATCAGAATGTGAGAATGAAAACACTGATGGAGGACTTGGGAAAGCTTCTTCTCTACAAGCGGAAACTGCAGTGGAAAAAAAGTCTCAATAGAGGCGACAGGATGACTCTGACCTAAGTAGCTATAAATAGCAGGAGTTGGCCAATGAGAACCTAAGGCAACCCCATCTGAAAAGCTGGTGCAGGTGGCCTCCAAGTGTAGTTAGAGCAGTGGTTCTTAGCTTTGGCTGGTGGAATCATCTGGGGGAACCTGAAAAGATACTGATCCTGAGTCTCTCCCCAGAAATTTAATTGGCCTGGGGAATAGCCTGGGCATCAGGATTTTAAAAAGCTCTGCAGGTGATTCTACTGTGCTGCTAAGGTTGAGAACCACTGATTTTGAGGTTATGATTCCTAACTGACTGGTCACAGGTGTCACTTACTAAAAAACATTTTTTTTAATTCCTAGAGAAGAGAATAAGAAGAGACTGGAAAATTGGTCATTCTCTCACAGCTTAAGTTTAGGTGAGGAGCCTTTGAGTATTCTGCTTTGTATGCAAGCCAAGCAATACACTGGTGGAGGAGGCAGGAAAAGCAAGTTGAGTAAGAGCCAGGGTGGAGGGGGGCACTCACCCAGGTCCTGGAAGGGGTAGGGGTAGGTGGGTGAACTGGGGCTTTCTACCAAGCTCACCTGCAGTCTCTCCCACCAGATCTGGCGGATGATCTCTCGTCGCTCGGGGACAAGTTTGTACTGGATAACCTCCTCCAGCTCGGACAGCATGTGGCAAGAAACCATGGCCTGATGGAAGCAAATCGCATTCCAAACTAATTACTGCACGAACAATCCAAAAGACAGGATTAATTTAAATCATTCCTTCTGGTGTCAGGGTATCTGCCGATCAGAGAAAACAGGCATGTTTCCAGCAGCCTGTAAGTTCTCAATAGCCCATTCTGAAAAAAGTATGGAAATAAGCCTCAAAAATGACAATGTGCAGAATAGTTGACACTTACCCCATATGCCCGACTGTAACTCTCTCCTGCCATCGCAGTTAATTCAGCATCCAGCAGGTCCCTGGCCTTGTCAATGCACTAGAAGAGAAACAACCCTTGGGACTGAGCTCTGGACTTGGGAGCTTAGGGTTATTTTAGGGCACCCCAACTAGCTACAGAAGTTATCTGTCTCACTTAAATTCCAGGGATGAAAAGAGAAATTCGCTGAAGAAGGGCATTTTCCCAGAACTGAATGGCTTGAGAGGAGGTATTATCCAATTTCTCATCGAAGACAGAAATGTATGGCATCCAAAACTTTAACATCTATCTAAGGTAACACACAAAATCTTAGGTGGCAAGGGCATGGGAATGTGGGCTGTAAAACCGAATCATGGGTTCTTGCATCTCAAGAGGACATAACTGGGGATCTACCTTTTTTTTTTCTTCTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGTCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCTCCATGTTGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGGCAGGCTGGTCTTGAACTCCTGGTCTCAAGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGTGCCCAGCCTGGGGATCTACCCTCTTTTAACTTTTTCTTGCTGGGCATGTTTATGAAAATAGATTCTGCACACACTTCAATGGCTCCAGGTGGTAGCTCTGGCTTCCAAGCACCCTCTGTCCTTATGAGGGAGTGTCTCTAAAATTGGCAGAGATGCCCAATCCTGTCCACATGAACGGGAACTCTTGTGTCTCTGACAGAGACAACCAAGATCTTGGTTCTCATCACACAAATGACAGCCTGGGGGACGCCACAGCACTGCAGTTTGAGTTTCCTCTGTGCCATCAATTAAAAACCCCTCATGCAGAGCTTTTCCCGTTTTTGAATGTTTAAGGTTAATTATAGTGTCCCAATGCCTTAAGTGCTCAGATCATTTACCCGGGCACCTCATCTAAGTCTCGTGTCTGACAGGGTGGATGGGATTACTTCATTATTTCATTCTGCAAGTCAGCATACTATTTGCAAGTAAGTACTAGCTTCCTCGGAAGGTAATCAATGTGTGACATGCCTGCATGGCCAGAAGACCCTTGTGACTGATTTCTGCTGCACAGTGAGACTGCTGGCTCTCTGAATCCTACCTTTTGGTGAAATACAGCTTCTCTCTACAACAAGGGATACAATGATGACCCAACAAGCTAACTCCAAAAGCAACCGAGACAGTAGCTTCCAGAACACATTTGTCCCCCTCAGAACAATAAGTAGCCCCAGCTGACCTGCTGGCAGTCTTCTGAGTACAATGAATCAAAACCATTCAAATGTACTCACAGAGCCGAGTAAACATCAGACCTGAAGTACAACAGCTTCTTTACCAAAGCACCGTGGGCTTAGAAGCACTACAATCTTTTCCTCACTGAGAGATCTGGGTGCATGTAGGTTTTTACCTGTTGTGCCAAGGAGAAGAGGTCCTGATGCAGTGCCAGCACAGCTCTATAAAATGCCCCATCATGGGTGTCCCGAGGGATCATACAGGTGTATTCTTCCATGCTGTCCCACTGACCTATACACACACACATAGACAGAAAGCATCAAGGGGGTTGGCTGGTTGGGCTAAAGGCAGCATCTCAAATAGGTCTTGCCACTGTTATTTTCCTTTAGCTTGGGATATAAACAAGACAAATAAACTTGAGCCTCATGTACCAAAATCCTGCAGAGCCCCTATACACACTATGCAGGTTGACGTAACAAAAAAAGCCACATCTGTCTTCCAAACACAGGACTCCATGGCTGCCCAGGGAGCATCTTGACAGATGAGGGGAAGTGCATGAGTGTGAAGTCTGCACATCAAGTGGGCTGAATGCAGCACCTCA
CAAGAGCCAAATTTCCACTATAAATGTAATGCTTTACTTTCAGGCCTTGGACCACATTTTTCCATCCCATGAAGTGTGACAACAATGATTTCGAAAGTTAAAATAACAGAAAAAAGTACACTGAGTGATTGTTTTTTGTGACTTCTCACCAATAGTTAGGTTCTCCCAGATGCTGAAATAATTTGGCCTCCTGTAAGCCAAAAAGCATCTTGCTGCCTCAAGATAGGAAAGTCACGAAGGCTTAAGGTGGTGGCAGTGTCCTGGACCCAGTAAAGTCAGACAGGCATCTCTCTTCCCAGGACTCATTCCATGCCTCCCCTCTCCTCTAAGTCTACATTTGGATCAAGTCCCACTTGTCAGACTGTCAGAAGGTTCATCAGATCTCTGCTGTAGAAACTCTTTATTATAGGCATTTCAAAGAATTGGGGTGTGTACAAATCAAGTGGGAAATGCTTATTTGTGGAATTCTTTCTGGTGCCCAGGAGACAATTTTCCATCAAAACATTCACTGGGCATTTCATAATTACTAATAAAACATGTAAAAGAACTGTATGTGCTCATTTCAGAGCCATAAATGACTGTATTCATAGATGTTCCTTTGCCCATTGCTCTTTCCTGTCCAGGGGAATGTGCCCTGAGCTTCCTAGGCAGGAATGTGTTTGGAGTCAAAAGGTTTTGTCGCAGCCTACTGAGACGCCTGGAAGCACAAACTTCGATTGGTCTGAAGCGAGAATTTGGAATTAGCAATTAGGTGGGGATCTAGTTGAGAGGAAATGGTTTATAATTGCGGGGATGGATTATGATAGGTAGGGAGACAAATGGTTTCTGGAGTGGTAAAGGCTTTCTCTCTTTTTTCTTTTGCTGATGAACTTCCTATCCTACCCACTCAAGGAATGGGATAACTGGCCATCCTTCCCAGAACATTTAGACTCCTGACTCCCAGACCTGGAGTGACAGTTTCTCATGTTAAAATGATCAGAATGTGAGAATGAAAACACTGATGGAGGACTTGGGAAAGCTTCTTCTCTACAAGCGGAAACTGCAGTGGAAAAAAAGTCTCAATAGAGGCGACAGGATGACTCTGACCTAAGTAGCTATAAATAGCAGGAGTTGGCCAATGAGAACCTAAGGCAACCCCATCTGAAAAGCTGGTGCAGGTGGCCTCCAAGTGTAGTTAGAGCAGTGGTTCTTAGCTTTGGCTGGTGGAATCATCTGGGGGAACCTGAAAAGATACTGATCCTGAGTCTCTCCCCAGAAATTTAATTGGCCTGGGGAATAGCCTGGGCATCAGGATTTTAAAAAGCTCTGCAGGTGATTCTACTGTGCTGCTAAGGTTGAGAACCACTGATTTTGAGGTTATGATTCCTAACTGACTGGTCACAGGTGTCACTTACTAAAAAACATTTTTTTTAATTCCTAGAGAAGAGAATAAGAAGAGACTGGAAAATTGGTCATTCTCTCACAGCTTAAGTTTAGGTGAGGAGCCTTTGAGTATTCTGCTTTGTATGCAAGCCAAGCAATACACTGGTGGAGGAGGCAGGAAAAGCAAGTTGAGTAAGAGCCAGGGTGGAGGGGGGCACTCACCCAGGTCCTGGAAGGGGTAGGGGTAGGTGGGTGAACTGGGGCTTTCTACCAAGCTCACCTGCAGTCTCTCCCACCAGATCTGGCGGATGATCTCTCGTCGCTCGGGGACAAGTTTGTACTGGATAACCTCCTCCAGCTCGGACAGCATGTGGCAAGAAACCATGGCCTGATGGAAGCAAATCGCATTCCAAACTAATTACTGCACGAACAATCCAAAAGACAGGATTAATTTAAATCATTCCTTCTGGTGTCAGGGTATCTGCCGATCAGAGAAAACAGGCATGTTTCCAGCAGCCTGTAAGTTCTCAATAGCCCATTCTGAAAAAAGTATGGAAATAAGCCTCAAAAATGACAATGTGCAGAATAGTTGACACTTACCCCATATGCCCGACTGTAACTCTCTCCTGCCATCGCAGTTAATTCAGCATCCAGCAGGTCCCTGGCCTTGTCAATGCACTAGAAGAGAAAACAACCCTTGGGACTGAGCTCTGGACTTGGGAGCTTAGGGTTATTTTAGGGCACCCCAACTAGCTACAGAAGTTATCTGTCTCACTTAAATTCCAGGGATGAAAAGAGAAATTCGCTGAAGAAGGGCATTTTCCCAGAACTGAATGGCTTGAGAGGAGGTATTATCCAATTTCTCATCGAAGACAGAAATGTATGGCATCCAAAACTTTAACATCTATCTAAGGTAACACACAAAATCTTAGGTGGCAAGGGCATGGGAATGTGGGCTGTAAAACCGAATCATGGGTTCTTGCATCTCAAGAGGACATAACTGGGGATCTACCTTTTTTTTTTCTTCTGAGACACAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAGTCTCCACCTCCCGGGTTCAAGTGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCTCCATGTTGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCAAGTAGCTGGGATGCTGGGGTTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGGCAGGCTGGTCTTGAACTCCTGGTCTCAAGTGATCCGTCTGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGTGTGAGCCACTGTGCCCAGCCTGGGGATCTACCCTCTTTTAACTTTTTCTTGCTGGGCATGTTTATGAAAATAGATTCTGCACACACTTCAATGGCTCCAGGTGGTAGCTCTGGCTTCCAAGCACCCTCTGTCCTTATGAGGGAGTGTCTCTAAAATTGGCAGAGATGCCCAATCCTGTCCACATGAACGGGAACTCTTGTGTCTCTGACAGAGACAACCAAGATCTTGGTTCTCATCACACAAATGACAGCCTGGGGGACGCCACAGCACTGCAGTTTGAGTTTCCTCTGTGCCATCAATTAAAAACCCCTCATGCAGAGCTTTTCCCGTTTTTGAATGTTTAAGGTTAATTATAGTGTCCCAATGCCTTAAGTGCTCAGATCATTTACCCGGGCACCTCATCTAAGTCTCGTGTCTGACAGGGTGGATGGGATTACTTCATTATTTCATTCTGCAAGTCAGCATACTATTTGCAAGTAAGTACTAGCTTCCTCGGAAGGTAATCAATGTGTGACATGCCTGCATGGCCAGAAGACCCTTGTGACTGATTTCTGCTGCACAGTGAGACTGCTGGCTCTCTGAATCCTACCTTTTGGTGAAATACAGCTTCTCTCTACAACAAGGGATACAATGATGACCCAACAAGCTAACTCCAAAAGCAACCGAGACAGTAGCTTCCAGAACACATTTGTCCCCCTCAGAACAATAAGTAGCCCCAGCTGACCTGCTGGCAGTCTTCTGAGTACAATGAATCAAAACCATTCAAATGTACTCACAGAGCCGAGTAAACATCAGACCTGAAGTACAACAGCTTCTTTACCAAAGCACCGTGGGCTTAGAAGCACTACAATCTTTTCCTCACTGAGAGATCTGGGTGCATGTAGGTTTTTACCTGTTGTGCCAAGGAGAAGAGGTCCTGATGCAGTGCCAGCACAGCTCTATAAAATGCCCCATCATGGGTGTCCCGAGGGATCATACAGGTGTATTCTTCCATGCTGTCCCACTGACCTATACACACACACATAGACAGAAAGCATCAAGGGGGTTGGCTGGTTGGGCTAAAGGCAGCATCTCAAATAGGTCTTGCCACTGTTATTTTCCTTTAGCTTGGGATATAAACAAGACAAATAAACTTGAGCCTCATGTACCAAAATCCTGCAGAGCCCCTATACACACTATGCAGGTTGACGTAACAAAAAAAGCCACATCTGTCTTCCAAACACAGGACTCCATGGCTGCCCAGGGAGCATCTTGACAGATGAGGGGAAGTGCATGAGTGTGAAGTCTGCACATCAAGTGGGCTGAATGCAGCACCTC
benign
2,650
Variant in gene MTOR (mechanistic target of rapamycin kinase), located at chromosome 1 position 11248104: benign or pathogenic? What disease(s) does it cause if pathogenic?
benign
CCAAACTGCAAGCTTTAAACAAATAGTACTTATGCAATGAAGCAAATACTTATACGGTGTGCCCAGGCTGAATGTCACTGGCATATTTTAGCATATTTAATAAAACAACCTTGACTAACCTTAAAAAAGAGAGCAACAACAATAACAAACACCCACATCAAAAGAAGAAATCTAGGGCCCTCTGAGCCTTTGTATCCTGCTGCTAGGCAGCCTTCTGAACTTACAAGGGTAACTTACAAGGGTAATGTGCCAGACTTTGATCAAATTTGGCCTAGTTATTAGTTCCTTTTGAACCACAGACTTTCAATCCAAGATCATTTAAAGCTCTACTGAACAGCAGCCTGTCTGGTCATTAAAAAAGAGAAAAGCTGCTGGGTGCCAGGCCAGAACAATAGAAACTAACAAAATACGGGTGATTTTCCTTCTGTTATTTCTCTCTGGTTCAGTGGTTTTATGTGGCGAATTGTCATGTCCTCACCCAACACGTTCTACTTCTTTCGAACAGCGTGTTTAACACCTGACCAGCTACATTTCTCCTGTGGTTTGTCTGGCTGGGTGGCGTGAAGTGAGTCTGTGTGCTAGGGAATAGGGTCTGCTGAGGGCCAGGCTGGCCTTTTGCTTATGTTCCTGGCTCTCAATGGGTCCTGAATGCTTCACTAAGCACAGGCAATGAGCACCACGGTAAAGTGGGAAGAGATGTTCAAGACTGGGTGCCTACACTCAGCAAGTAGAGAGGTAAGACAAGGACATTAAGTATGAACAGGCAACTAGAGCATTATAAATTTTACCTCTACCCTATTTCCAAAACATATTTGAAGTAGCTTGAGGAGGCTGTAATAATATATAATGGTTTCCACTTATTAGGGCTCTGTGCCAGGCACTATAGTAGATGCTGAGACATTAATGCTGCTCATCTTGGGAGGCAGAGATTGTTATTCTGATTTTACAAGTCAGGAAGCTGAGGCCCAGGTAGGTCAAATAATCTGTCCAAAACCTCATGGTTAAGGGCGGAGGTGGGGTTCATCTCAGGTCTGATGCCAAACCTTTCCACAGCTGAGGGCTATGATGGAAGAAGGCAAGGACATTTACAGCTGGAGCAATCTAGGAAGGCTTCGTTGAGAAGTTGGACTCTGAGTTGGGGCAGCTTCAGGAGCCAAGGATTGATGCTGCCTGCAAGTGGTGAGGCAGCTTGGTGACCACCTCAGGGACAGAAGCAGGACGATCCCCAAACCCTCCCTGACTCACAAAGCTTTGACGTAGATGCTGCACAGTAGCTACATCAAAACTGCCCTTCCTTTGGTCTCTTTTAAGTCTACTTGTGAACTTGTTGGCATCCATACATGAAAATTTGCTTGGCCATAGAATTGCCTCTCTGTTCTGATTGTTCCTGTGTCTGCTGCCTCTGACATTAGAAAACCTGAACTAAATAGCATTGAAATTGGACATGAGACAAAGAAATCAGAGATTTGTTGGCGTTGCTTCAAAGGAAAAGATATTTGGCTTTTCTGGAATCACCTGTTCCCTGTTTACCCTGAGATGGGTAATGATGTCTTCCATGGACATCCTCACCTGTGAAGGCAGAAGGTCGGAATGCAGCCAAGCGGGGCAACAAATTAAGGATTGTCATTTGGATCAGCGAGTTCTTGCTATTCCTGCATTTCAGCACCCACTGGCACACCTGAGAGAGGAAGGATAAAGGGTTGGCAGGGGAAAAGTGAGGTGTGGAGCTTAGGAAAAGAGGGAAAGGGCCTCTCACCACTTACCTGATCAAATTTCTCCTCCATCAAGTCTCTGCAACACCGGCTCTCCACCAGGGTGGACTTAGCTGGACTGGGGGAGGTCCCAAATCCCATGAGGCCTTGGTGAGAGCTGTACCCCAGCAGCCCCACCAAGGCATTTGACTGCTGGGGCTGTACAGCCTGGAAACTGGTGAAGGGGGTAATGTGACGAGGTTTTGTTCCGAAGCCCATGAGATCTTTGCAGTACTTGTCGTGTACCAGCTGCTGCTGTGTGATTTCTTCCATTTCTTCTCTCAGACGCTATATATATGAGGAGGAAAAAAATCATCTTTACTTATGACTGGCATTCAAACTGGGCACTGTGGATTCTACAGACAATTACATTTGCCTAATCCCGAAACGCAACTACTTCCAAAGTGAAGGGTGGCCACTCTTCATGTTTAGGGTTACAATTTCCCCAGAACCTTGCAAGGGACCTGATTTTGTTCTAAGTTAGGCAGAAGAGCACCACCTATTGAACAATAAAGCAGCAGCAGAGGGCTGCCTTGCCAAGGGTTCTCACCTCCCAGGACTCCTCACTTGGTTTGGAAGGGCTGACTTGCATACTGCTGTGACTACTGACCTAGGCCACTGCAATGAGGCTTGCAAAGGTGATGGGAGCTCCCCTGCCAGCATCCTGTTAAGGACTGTCTGATCTCTTTCTTCTCCCTAGAAACCCAGGTAAAAACTTATGCAGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCGGTACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCCGTCCCTATTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCTGGCTACTTGGGGGCTGAGGCAGGAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTAGCCTGGGCGACAAGAGGGAAATCTGTCTCAAAAAAACAAAAAACAAAAACTTAACCAAATAATTTTCTCAGAATCCTAGGATTCCACAGGTAGTATGGAATAAGCTGACTGAGAACTCATGTCTATTACCTTTACAATGGGCTGCTTAATCACTCATCCTGAGTCAGGCGCAAGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAAACCCGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCAACTGTACTCCAGCCTGGGCAGCAGAGCAAGCCTTGGTTTTGGGGGCCAGGGGAGGGGGGTTGGGGACTACTCATCCTCCAAGACTCCAAATTGAGAAGGAGATACAAGTTTTCCAAACTTCTAAACTTTTCTTGACACACATATTTTCACTTTTCAGAAAATCTTGTCCTCTCGTCAAAGTCACCAGTGAGTCTTTTTTTTTTTGAAACTAAAACACTCCATCTTTATTTATTTATTTATTTATTTATTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTGCCCCCTTTCTATTCCACAAAACCGCCACTGTCATCATGGCCCGTTCTCAATGAGCCACTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
CCAAACTGCAAGCTTTAAACAAATAGTACTTATGCAATGAAGCAAATACTTATACGGTGTGCCCAGGCTGAATGTCACTGGCATATTTTAGCATATTTAATAAAACAACCTTGACTAACCTTAAAAAAGAGAGCAACAACAATAACAAACACCCACATCAAAAGAAGAAATCTAGGGCCCTCTGAGCCTTTGTATCCTGCTGCTAGGCAGCCTTCTGAACTTACAAGGGTAACTTACAAGGGTAATGTGCCAGACTTTGATCAAATTTGGCCTAGTTATTAGTTCCTTTTGAACCACAGACTTTCAATCCAAGATCATTTAAAGCTCTACTGAACAGCAGCCTGTCTGGTCATTAAAAAAGAGAAAAGCTGCTGGGTGCCAGGCCAGAACAATAGAAACTAACAAAATACGGGTGATTTTCCTTCTGTTATTTCTCTCTGGTTCAGTGGTTTTATGTGGCGAATTGTCATGTCCTCACCCAACACGTTCTACTTCTTTCGAACAGCGTGTTTAACACCTGACCAGCTACATTTCTCCTGTGGTTTGTCTGGCTGGGTGGCGTGAAGTGAGTCTGTGTGCTAGGGAATAGGGTCTGCTGAGGGCCAGGCTGGCCTTTTGCTTATGTTCCTGGCTCTCAATGGGTCCTGAATGCTTCACTAAGCACAGGCAATGAGCACCACGGTAAAGTGGGAAGAGATGTTCAAGACTGGGTGCCTACACTCAGCAAGTAGAGAGGTAAGACAAGGACATTAAGTATGAACAGGCAACTAGAGCATTATAAATTTTACCTCTACCCTATTTCCAAAACATATTTGAAGTAGCTTGAGGAGGCTGTAATAATATATAATGGTTTCCACTTATTAGGGCTCTGTGCCAGGCACTATAGTAGATGCTGAGACATTAATGCTGCTCATCTTGGGAGGCAGAGATTGTTATTCTGATTTTACAAGTCAGGAAGCTGAGGCCCAGGTAGGTCAAATAATCTGTCCAAAACCTCATGGTTAAGGGCGGAGGTGGGGTTCATCTCAGGTCTGATGCCAAACCTTTCCACAGCTGAGGGCTATGATGGAAGAAGGCAAGGACATTTACAGCTGGAGCAATCTAGGAAGGCTTCGTTGAGAAGTTGGACTCTGAGTTGGGGCAGCTTCAGGAGCCAAGGATTGATGCTGCCTGCAAGTGGTGAGGCAGCTTGGTGACCACCTCAGGGACAGAAGCAGGACGATCCCCAAACCCTCCCTGACTCACAAAGCTTTGACGTAGATGCTGCACAGTAGCTACATCAAAACTGCCCTTCCTTTGGTCTCTTTTAAGTCTACTTGTGAACTTGTTGGCATCCATACATGAAAATTTGCTTGGCCATAGAATTGCCTCTCTGTTCTGATTGTTCCTGTGTCTGCTGCCTCTGACATTAGAAAACCTGAACTAAATAGCATTGAAATTGGACATGAGACAAAGAAATCAGAGATTTGTTGGCGTTGCTTCAAAGGAAAAGATATTTGGCTTTTCTGGAATCACCTGTTCCCTGTTTACCCTGAGATGGGTAATGATGTCTTCCATGGACATCCTCACCTGTGAAGGCAGAAGGTCGGAATGCAGCCAAGCGGGGCAACAAATTAAGGATTGTCATTTGGATCAGCGAGTTCTTGCTATTCCTGCATTTCAGCACCCACTGGCACACCTGAGAGAGGAAGGATAAAGGGTTGGCAGGGGAAAAGTGAGGTGTGGAGCTTAGGAAAAGAGGGAAAGGGCCTCTCACCACTTACCTGATCAAATTTCTCCTCCATCAAGTCTCTGCAACACCGGCTCTCCACCAGGGTGGACTTAGCTGGACTGGGGGAGGTCCCAAATCCCATGAGGCCTTGGTGAGAGCTGTACCCCAGCAGCCCCACCAAGGCATTTGACTGCTGGGGCTGTACAGCCTGGAAACTGGTGAAGGGGGTAATGTGACGAGGTTTTGTTCCGAAGCCCATGAGATCTTTGCAGTACTTGTCGTGTACCAGCTGCTGCTGTGTGATTTCTTCCATTTCTTCTCTCAGACGCTATATATATGAGGAAAAAAATCATCTTTACTTATGACTGGCATTCAAACTGGGCACTGTGGATTCTACAGACAATTACATTTGCCTAATCCCGAAACGCAACTACTTCCAAAGTGAAGGGTGGCCACTCTTCATGTTTAGGGTTACAATTTCCCCAGAACCTTGCAAGGGACCTGATTTTGTTCTAAGTTAGGCAGAAGAGCACCACCTATTGAACAATAAAGCAGCAGCAGAGGGCTGCCTTGCCAAGGGTTCTCACCTCCCAGGACTCCTCACTTGGTTTGGAAGGGCTGACTTGCATACTGCTGTGACTACTGACCTAGGCCACTGCAATGAGGCTTGCAAAGGTGATGGGAGCTCCCCTGCCAGCATCCTGTTAAGGACTGTCTGATCTCTTTCTTCTCCCTAGAAACCCAGGTAAAAACTTATGCAGGCCAGGCGTGGTGGCTCATGCCTGTAATTCCGGTACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTCAAGCCCAGCCTGGCCAACATGGTGAAACCCCGTCCCTATTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCACCTGTAGTCCTGGCTACTTGGGGGCTGAGGCAGGAGAATCACTTGAACCCAGCAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTAGCCTGGGCGACAAGAGGGAAATCTGTCTCAAAAAAACAAAAAACAAAAACTTAACCAAATAATTTTCTCAGAATCCTAGGATTCCACAGGTAGTATGGAATAAGCTGACTGAGAACTCATGTCTATTACCTTTACAATGGGCTGCTTAATCACTCATCCTGAGTCAGGCGCAAGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGTGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGTCTGACCAACATGGTGAAAACCCGTTTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCACATGCCTGTACTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCACACCAACTGTACTCCAGCCTGGGCAGCAGAGCAAGCCTTGGTTTTGGGGGCCAGGGGAGGGGGGTTGGGGACTACTCATCCTCCAAGACTCCAAATTGAGAAGGAGATACAAGTTTTCCAAACTTCTAAACTTTTCTTGACACACATATTTTCACTTTTCAGAAAATCTTGTCCTCTCGTCAAAGTCACCAGTGAGTCTTTTTTTTTTTGAAACTAAAACACTCCATCTTTATTTATTTATTTATTTATTTATTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAGTGGTGATGACTCTTAATGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACCTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTTTTCCCCACCTTTGCCCCCTTTCTATTCCACAAAACCGCCACTGTCATCATGGCCCGTTCTCAATGAGCCACTGGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACNNN
benign
2,762
For chromosome 1, position 11790882, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
GCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTGTGCATTTGGCCTAGGCAAGACTGGCTGGCTGCTTGGGGCAGAGGGAGGGGCCCTGGGGACAAAAGGAGCTGGGTACAGGGGTTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGCCCCACACATCCAGGGAGTGATGACAGAGGGGACAGCTTGAAGAGCTCTGAAGGACAATAAAACCCACTCCTCAGTCCTAGCTGCTGCTTTCAGTCTCTCCTAGCGGCTGCCCCTCTGCCCCAGCCAGTGAGGCCAGGAAGGGAGTAAAGAGGACATCCCACAATTGCGTCCACCCCCTTGGCCATCAGGCTGCTCTTCCACTACACGAAACAGCCCATCTGCACCTGCCAGTCACTGCCCCCAGGCCCTGGGGCTTGCAGGTGACTCGTGGGGAGCCAGGCCAGGCAGATAACCTCTGGGACAGGACGAGGGGATGAGGAAGGCAGCTGGCAGGACAAGGGCCTACCTGAAAAATACACCAGGAAGCTGGGCTGCTGCACAGGCCCAGGCAGATCTGGGGCCCCTGTGCTGGCAAATCTCATCTTAGCCTCTGACAGGGAACGGGGCAGCATCAGGCCTCCACAGCCAGGCAAAAGGGGAAGGCCACGAGCCCCACCAAGCACAAGGGTTCAGACTGCCTTCAACCCTTAAGGGGCACTTTTTCTCTCAAGGCTCAGAATAGACAACTGTGCCAAAAAGCAGCATGGTAGGTGTCAGCCCAATGCCCATCCAGGGGGCTGGTGCCATGGACGGCTAAGTGGGCAGGCAGGGCAGTGGTGTGCCCCTTCAGTCACAAGTAGGTGGGGCCCAGCTGCCCACCTCTAGGAGGTGGAAGGGTACAGCACTTTGCCACATCTCTTCTACGATGCCACCAGTGCCTGATGCCCTTGCGTGTTTTGCCTGTACTGCACGGGCTCCAAGTGTAAGTTCACTGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGA
GCTTTCCCTGCTTGCCAGCCCCGGGGCCCCTTCGTTTTCAGGGGAGGGGGTCAGTTCCATTACAGAACACACAGGCTGGATGCTGGAGCCCTTGCTTTGATTTGTGGCCCCAGCTCAGGCCAGGCCCACCCGGTCCATCAGTTTGCGAAGAAGGTGTGGCATGAGGCATGGCTGCCACTCACACTAGCCCATGGAGGGCCTGGGTCCTGAGCGCCCCCTCCCTCATTTGCTCTGCTCTGAGTACAGCTTCCCAGCTCACCATCAGATCTATTCTGAGCTTGTGCATTTGGCCTAGGCAAGACTGGCTGGCTGCTTGGGGCAGAGGGAGGGGCCCTGGGGACAAAAGGAGCTGGGTACAGGGGTTGCTCTAGCAGGCACAGCACAGACCCCGGAGAAAGCCCACAACAATAGCATTTCCTCTCCTCCCTGGTTCCAGGCCTTTAAGAAGTGGCACCAACGCCTGGCAGCCAGGAGCCCAAGGAGAGGAGCTGCCAGTAGCCCAAGACCCTGGAGCAAGCCAGGCCCCAAGGGCCCCGAGAGTGGACAGGAAGCCGCCAGAGCACCGCGGGGTTGGGGGCTTGGGGCAGAGCATGGGGCCCAGCTGCAGCTGTGACTTGTTCTCATAGAATAAAAAACAGAACTGAACTTAGCCTTCCCAGGGAAGGAACCATGCCCCACACATCCAGGGAGTGATGACAGAGGGGACAGCTTGAAGAGCTCTGAAGGACAATAAAACCCACTCCTCAGTCCTAGCTGCTGCTTTCAGTCTCTCCTAGCGGCTGCCCCTCTGCCCCAGCCAGTGAGGCCAGGAAGGGAGTAAAGAGGACATCCCACAATTGCGTCCACCCCCTTGGCCATCAGGCTGCTCTTCCACTACACGAAACAGCCCATCTGCACCTGCCAGTCACTGCCCCCAGGCCCTGGGGCTTGCAGGTGACTCGTGGGGAGCCAGGCCAGGCAGATAACCTCTGGGACAGGACGAGGGGATGAGGAAGGCAGCTGGCAGGACAAGGGCCTACCTGAAAAATACACCAGGAAGCTGGGCTGCTGCACAGGCCCAGGCAGATCTGGGGCCCCTGTGCTGGCAAATCTCATCTTAGCCTCTGACAGGGAACGGGGCAGCATCAGGCCTCCACAGCCAGGCAAAAGGGGAAGGCCACGAGCCCCACCAAGCACAAGGGTTCAGACTGCCTTCAACCCTTAAGGGGCACTTTTTCTCTCAAGGCTCAGAATAGACAACTGTGCCAAAAAGCAGCATGGTAGGTGTCAGCCCAATGCCCATCCAGGGGGCTGGTGCCATGGACGGCTAAGTGGGCAGGCAGGGCAGTGGTGTGCCCCTTCAGTCACAAGTAGGTGGGGCCCAGCTGCCCACCTCTAGGAGGTGGAAGGGTACAGCACTTTGCCACATCTCTTCTACGATGCCACCAGTGCCTGATGCCCTTGCGTGTTTTGCCTGTACTGCACGGGCTCCAAGTGTAAGTTCACTGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAN
pathogenic
2,820
Chromosome 1, position 11792367, gene MTHFR (methylenetetrahydrofolate reductase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive', 'Schizophrenia', 'Thrombophilia_due_to_thrombin_defect']
TGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGAC
TGGGAGTCCCAGGCTGGCTCTGGAGGCTGCCTTGGTTCGAGGGCTTAGTTGGCAACAACCACTCTCCTCGCCTTCTCAGGAGGTGCCACCCACTGTGGTCCTCTGCAGGACGCAAGTGCTCCCCACCAAAAGAGCACAGACTCCTGGCTAGAGCAGAGAGTACTAGGTTCCCATGTGGGGCCGACTCAGGTCCAGGAAGAGCCTGGAAGCCTCACTCCAGTCTAGCTGCCATTGTCAGGTGGGGGAGTGGAGGCCGGGGTGGGAGAGACACGAAGGAGAGTGGAGTTCCCAAGAGAAGCAGCACTGTGGAGGAGGAAGGCGGGACAGGAGTGGCTCCAACGCAGGGCGTCAGGACGCAGGGTCATGGAGCCTCCGTTTCTCTCGCATTCTGGGTGGGCCTGTTGAGAAGCTCCAATGTGTCTTCCACCACCTGCCAGAGGCAGTTGTCCAGTGGGAAGTCATTGTCCACCAGGTTGACCAGGAAGTAGTTGTCGTGGATGTACTGGATGATGGTGCGGGACGGGGACTCCTCCTCATACAGCTTTCCCCACCGCTCAATCCACAGGGCAAAGGCCTCGTCCTACACACACATACCCCCGCACACACGCACACATGCACACACACACAGAGGCAAGATTAACAGGGCTCTCCAAGGGCTCTGCTCAACAGGACATTTCCCGGAATAGAACAAGGCCCACTGCCAGTATCACTTCCCACCCCTGCCCAGAAATAAACACCCTGCATCAGCAGTGACATGGGTGAGTCAGAGCTGGGTGTGCCCTGAAGGCTGGGTCCAGTGTGGCCTTCAGCACACGCTTGGGACTTGGTCCCAATCCCTCCCCACGGTTTTCCAGGTGGGCGGGGCAAGCTTGCCCCCGGCTCCTTTACCTTCCAGAACATGAAGCTGACGGGATCCACTACGGTGGGCTGGATGATCTCTCGCCCAGGGAAGATGCCCCAAGTGACAGCATTCGGCTGCAGTTCAGGGGCATTGGTGATGTTTTCACCCTGAGGGGATGTGGGGTGGGGGTAAGACCTGGGCCAAGAACAACTGGAGTCCCACTGCCTGGACAGCCTTGACTCAATGAGGCTGTCTGGGCTCAATACCCTCTGCCTGCGCCTCCACTCCCGGCCTCCACTCTCCCTGCGCCTCCACTCCCCTCTCCCTGTGCCTCCGCTCCTGGCCTCCTCTGCCTGCATCTGTGAATGATATCTCTCCCCACACAAGCCTGAACCTAGAGGCGTCCTGGCCACTTCCCCTCTCCTCCTTGAGCACCCCCTGCTCACTCTCTGATCCATTCCCTCTTGTCTAGCCCACCTCCAGGAGTGTGTTTGGCTTGGGTCACTCCAGGGGTCTCTTCACTGGCCTCCCCGGCTCTAGCCGTCCCCAATCTCTCTCATCCGTATGACTATCCACTGTGATTTGCCTAAAATAAAGCAGGAACCAAGCCACCCCACTGCTGGAGAAAGGCTTCCCTTGCATTGAGGGAAAACTCAAATTCCAGCAGGACAACCATGATCTCTGCGGGCCTGGCCCCTGCTTAACACTCCCGCCTCCTCCTGCTCATGTTCCCCGTTTCCCCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACNN
pathogenic
2,839
For chromosome 1, position 11793948, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
CCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCC
CCAGATGGTGCAGCTCACTGCCTCTGCCTGTCCTCTGCCCTGTCCCAGGAATACCCTTCTCTCCTGTTGGCCAACTCCTCTTTGTCCTCAGTGATTCCCACAGATGACCCTCTGAGAAGCCTTCCCTGGCCTCCCAGGTGAGATATCCCTCCTCTGGACCCGACAGCATCCTCTCCTGAACTTGATTTTCCCACTTACACTGGCTGGTGGTCACACATTGATCTGCCTCCCTCACTCTAGGCTGGGAGCTCCTTAAGAGCAGGGCCCCAGTTCTGCCTGTATCTCTCTGTCTTGCACAATGCCTAGCCCAGGCTAGGTGCTGGGTGTTTGCTCAACGAAGGGCCTGGTACTCTGTGGGAACCCTGGGGCCTGGCCTACCTTCACATTGACAAGGTGGTAATTAACCCGGAGCTCGTACTTCTTCAGCACTTGCAGAAGTGCTTCCGCTGTCTCGCGGGAAGTGAAAAACTCTAAGTAGGCCTGTGGGAGAGACAGGTGCCTGTCACCAACCCCAGCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCN
pathogenic
2,846
Determine whether the variant at chromosome 1, position 11794462, in gene MTHFR (methylenetetrahydrofolate reductase) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive', 'Schizophrenia', 'Thrombophilia_due_to_thrombin_defect']
GCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGA
GCCCTGCCAGACGCCCTTTCGCAGACACCTAAGGTATCAGGACTACTGGCAGCCATGTGGGCGGAATAATGAACTGTGGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGANNNNNNNNNNNNNNN
pathogenic
2,863
Clinically, how would you classify the variant at chromosome 1, position 11794539, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
GGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGA
GGCGTTGGCACGTCCATAAGCAAAGGGTGAGGGGAGTGGGGACGTGAGTTTCTCAGTCTGGACAGGTCTGAGGGCTATCAGCCACCCCTCTCCCAATCAGTCAGGGAAGACTCCACGAAGAAGCCATTTCTGAACAGCAGCAACTGGTTTGACAGGCCGAGTCATGGGAGAGAGGCCCCACACATTCCATCCTCCCCAGTGCAAGCTGACAATGACATTGACATCTCCTCTAGAACCAGTGCCTATCAGGGATTAAGCTGGGTTTACTCAAACTCATTTGCTAGAATGCTGATAATACGGGAGGCTGGGCACAGTGAGCCCCACGTGAGGAAAGTGGGTTCAGGGAAGTTGAGCACGTTGGCTACTCTGACAGTAAACAGTAGAGCTGGTCCTTAAACTCAGGTCTTTCTGCTCCAGGGCCTGTGGGCCTTAGATCAGAACATAATGTTAACTCCAGCAGCCCTGGGAGAAAGGTGTCAACTCAGGATAGTAACAGCAGCTGCCTTTCAGGGAGTGCTTCCTGCTCTTACCATGTGCCAAGCACGTTACATGCTTTGTTAGGTTTCATGCCCAGAACACAAGCTACATCCCATTTTACAGACGAGAAAACCAGGCTCAGAGAGGTCGAGTGACCTGCCTCCATAGGTCTGATTTCTATCTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGAN
pathogenic
2,864
Evaluate if the mutation on chromosome 1 at position 11795261 in MTHFR (methylenetetrahydrofolate reductase) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
ATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGACCCCAGAGATGACTCTCAGGGGAGGTGGCTCAGAGCCCAGTTCCAAGAGTGGGGGTGGATTGCTCCAAACTCCCACACTGTCCTGCCTTGAGCAGCCAAGCAAATCAGGCCTGCACTTGGTGGCCATAGAAAAGAGAAAATGCTACAGTTAGCACTGGCTGGGCAGCATCTGGGGTAGTAAGCTTGACTTTTCTCTAGGCACCGGATTAAACATTGTTTTTAATGTAACACTGAAATTACTCAGGGGTCCAAGATAGTGAAAAGCTAAAAACCAAGTTACACAAGGAAGAACTGAAGAAAGTGATGTTTTCTTCAAAGAAAATAATGGATGGCAGGGTGCGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTATGCCTGTAATAGCTACTCAGGAGGCTGAGTCAGGAAAATTGCTTGAACCCACGAGACAGAGGTTGCAGTGAGCCGAGATCGTACCATTGCACTCTAGCCTGGGCAACGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAATGAAAAGAATACAGAAACTCCTTTCAAATGTCCAAAGGTCTGTCCTGGGGAAAAAGGATCCACCATAGGTGAGTTTGTTTTGTTTTGTT
ATCTCAGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGCAACTACAGGTGCCCGCCACCACACCCGGCTAATTGTTGTATTTTTAGTAGAGATGGGGTTTCATCATGTTTGTCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCAAGCCCAGCCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTTTGTGGGCCAGGCTGGAGTGCAGAGGCACAAATATGGCTTACTGGAGGCTCAACCTCTCGGACTCAAGCGATCCTCTCACCCCAGCCCCCTAAGTACCTGGGACTACAGGTGTACACCACCATGCCTCGGTCATTTTTGTATTTTTTGTAGAGAATGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGCCGGGTTCCGTGCCCAGCCAGGTCTATCTGACTTAAAGCATGAGCTCCCATCCGCTCCAATCCATGCTCATTCAAAATTTAAGAGCCCAGGAGAGGCAGGCTGCTCTGCCCTAAGCTCTGGGGAACCCACGGGTGCCGGTCAAGAGAGGGGGGCACCCCGTGCCTCCCTACCACACCTTCTGGAAGACATAGCCCCCGCTGGGGCCCCAGCCCACGATGGGGTCGGAGGACGGCTTCCCGTTGATGTTGGGCTGTGAGTTGATGGTGAGGATGCCCTGGCGGTTCACCCGCAGCAGCTCCTCCTTCAGCAGGCTGGTCTCAGCCGCCAGGGGCTCATCGTTCCAGGGCAGGCAAGTCACCTGGGAGAGACGGTGAGCTGGCTGGGGCGACCATCAGGTTTGGCACCCTGAGTCCCTCTCACGGCCCCCAACAAAGACCCAGCCTGTCTTTGCCTCCCTAAGCCCTTCCAGGTGGAGGTCTCCCAACTTACCCTTCTCCCTTTGCCATGTCCACAGCATGGAGGGGAGGGCACAGGATGGGGAAGTCACAGCCCCGCAGCCTGGCCTGCAGCTGGGGTCAGGCCAGGGGCAGGGGATGAACCAGGGTCCCCACTCCAGCATCACTCACTTTGTGACCATTCCGGTTTGGTTCTCCCGAGAGGTAAAGAACGAAGACTTCAAAGACACTTTCTTCACTGGTCAGCTCCTCCCCCCACATCTTCAGCAGCTCCTCCTTGGGGGACTTGCTCTTCAGGTAGAAGAGGTAGTAGTCCTTCAGCTCCCCAAAGGCAGGGGAAGAGGAATTGCCCCTGGCAGAGGGGTGCCCAGAGGTCAGGGCACACTCCTGACAGAGGGCAGTGCCACCACATGCCCAGGAGGCCATTCCTGTAAATTCTGCCCCTGACTCCTCCCAGGTCAACCACAAGCATGCAAACTTCTTCTGCCCTCCCGCTCCCAAGAACAAAGATGTATTTGCAAGGAAGGTCTGCAGGCCCTCACCAGCGGCCGTTAGGGAACTCGTCCCACTCCTGGGTACGGTAGATGTAACTCTTTGGTCTGGAGGCCCAGAAGATGGGACGTACATCTTCCTCTCGGCGCTTGGGGTGGGCGCTGAGAGCCCAGGGTAGGGGACGCCTGGGTGAGGATGGGGACAGAGAATTGAGACAAGGGATTGGCTAGAGGGAGCCGGAAGCAGGGGAGCACCCCTGAGGCTGAGTTCTTCCATCTGATGCCCTCTGAGACTGGAGCCTTCGATGTGCCCAGCTAGCCATGGCACAGACATCCATCTGTACCACCGTGGGGAGCCAGCACTGCAGCCGGGGCTGCTCTTGGACCCTCCTCTGGGGATCTCTGGGCCACTGCCCTCACCTGGGGTCCTCAGTCCACATCCCCAGGCGCTTCAGCACCTCTGTGGTAGCCATCTCGCGGTTGAGGGTGTAGAAGTGGAGGCCTGGCACCAAGCCACTGGCCAGAAGCTCCTGGCACAGGCTCACGGCCAGCTCGATGCCATAGTTGCGGATGGCAGCATCGTTCGTCTTTGATTGGCTCAATCACGTCCTTGATCTCCTGTGGCACCTCCAGCTTGGACAGCTTCACAAGCTGCCGAAGGGAGTGGTAGCCCTGTCCAAGACATGAGGGGCTGTGGCGGCTGCTGGCCAGCCCGTCTCCCACCCTAAATACTTCTCCCCCTTCCATCATCCATGCCAACCACAGTGTCAGGCAGAGGGACCCACGAAAGTCCGATCATATTCTAGGAGCACACCTGGGCTTGGCCTGCCGTTTTCTCCTCTTTTTTCTGTTTTTAGAGACTGAGTCTCACTGCTCTCAAACGCCAGGGCTCAAGCCATCCTCCTGCCTCAGCTTCTCAAGTAGCCGGGACTACAGGCACGTGCCACTATGCCCAGCTTTCCCACTTTTTACAGAGTAGAGCAGCTGCCCTAAGCATTCCAGCCTTGGGTTGAGCCAGCCTTTTAGCCCTAGATGTGTCTGTTGGTAACATGGTGTCATCTAACCCAGCTGTTCCCATGCTGCACTGATCATCCGAATCACCTGCCAAGCTCAAGAAGTAAAACACACATTCCGAGGACCTCCCTCAGATTTACTGAGTGAGAACCTCCAGGGGTGGGACCTGGAGATCCACTTTTTGAAAAAGCTTATCAAGTGGTTCTGATGACAGCCACCTTTGGGAAACACTGATTTAAGCAGGATTTGTAATGAGAATTAGAATCCCTTTTGGTGATGCTTGTTGGCCAAAGTACAACAAACCCCTCAACAGACACTGTTGCTGGGTTTTGGGGGGAAAATTAGAGGTAACCAAAATGGGGTGGCCAAGCAACGCTGTGCAAGTTCTGGACCTGAGAGGAGATCTGGGAAGAACTCAGCGAACTCAGCACTCCACCCAGAGCCCCCAGCCTGTGCGAGGACGGTGCGGTGAGAGTGGGGTGGAGGGAGCTTATGGGCTCTCCTGGGCCCCTCACCTGGATGGGAAAGATCCCGGGGACGATGGGGCAAGTGATGCCCATGTCGGTGCATGCCTTCACAAAGCGGAAGAATGTGTCAGCCTCAAAGAAAAGCTGCGTGATGATGAAATCGGCTCCCGCAGACACCTTCTCCTTCAAGTGCTTCAGGTCAGCCTCAAAGCTCCCTGCTTCGGGGTGGCCTTTGGGGTAACCTGCCAATAGGGATGACAGTCAGGAGAGGCTGGCCTCCACCTGTTCAAGGCGAGGGATGAAGAGACCACAGGGACTGGGCAGAGAGAGTCCTCTGCTTTGGGGGCTCTGATCTTGCACCTTCCAACAGCACAGCACAGCCTGAACTAAAACAGTGAGTGGCTGGGCTCATGACTGATATGCTTCTGACCCCAGAGATGACTCTCAGGGGAGGTGGCTCAGAGCCCAGTTCCAAGAGTGGGGGTGGATTGCTCCAAACTCCCACACTGTCCTGCCTTGAGCAGCCAAGCAAATCAGGCCTGCACTTGGTGGCCATAGAAAAGAGAAAATGCTACAGTTAGCACTGGCTGGGCAGCATCTGGGGTAGTAAGCTTGACTTTTCTCTAGGCACCGGATTAAACATTGTTTTTAATGTAACACTGAAATTACTCAGGGGTCCAAGATAGTGAAAAGCTAAAAACCAAGTTACACAAGGAAGAACTGAAGAAAGTGATGTTTTCTTCAAAGAAAATAATGGATGGCAGGGTGCGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATGACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACCAAAAATACAAAAATTAGCCAGGTGTGGTGGTGTATGCCTGTAATAGCTACTCAGGAGGCTGAGTCAGGAAAATTGCTTGAACCCACGAGACAGAGGTTGCAGTGAGCCGAGATCGTACCATTGCACTCTAGCCTGGGCAACGAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAATGAAAAGAATACAGAAACTCCTTTCAAATGTCCAAAGGTCTGTCCTGGGGAAAAAGGATCCACCATAGGTGAGTTTGTTTTGTTTTGT
pathogenic
2,887
Clinically, how would you classify the variant at chromosome 1, position 11801362, gene MTHFR (methylenetetrahydrofolate reductase): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Homocystinuria_due_to_methylene_tetrahydrofolate_reductase_deficiency', 'Neural_tube_defects,_folate-sensitive']
TGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCACTGAGGCTGGACTGCAGCGGCACCATCTCGGCTCACTGCAACCTCCGCCTCTTGGGTCCAAGAGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGCCGTGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGGTTACAGGTGTGAGCCACCGCGCCCAGACCCCTCTTTCGTTTTAAAGAAAAGAATAAGGCCAAGCAGGCTAAGGGCACAGCCAGGCAGAGGAACAAAAAGCTAGGGGTCGATGGTGGCAGGCCCAGGAGGGGAGTGGGTGATACAAAAGGAGCAAGGACATGGTGCAGTTCACCTCTGCATGTCCTTCATCCAGCATGGACCCATGAGTGCCCCTGATCACTGTGTCCTGAACCGAACACCGACAGGCTCTCTGGGCATCTCAGCCTCCCTAGCTCCATCCCCGCCACCAGGATGATCCAGCCACTCACCTGCCACACAGATGTCAAAGTAGTCACCAAACTCACTTCGGATGTGCTTCACCAGGTCCACTGCGTAGTTGAAGCCTCCCTCCTCCTCTTCCCACTGGTCACCTATTGGGTCTGCAGGGTTGGTGGAGGTCATAGTCACTGGGTCTCACCCAACCTCCAGAGACCCTTTCTGTTCCCTCTACCTAGCCCCGACACCCAGGACTGCGAGTCCCTGGAAGGCAGAAACTTCATATTATTTAGGTTTGGTTCGTCTCTTTCTAGCACTTGGTAAGACAGCAGGAGGGAAAAAAGCAGCCCACCAGTTCAATATTCACTGCATGCTGACCCTGTGCTGGCGGTGGAGAATAGGAGACCACCGCTGCTTCTCACCGTGCCTGGAGGATTGGAGAGCCCTTCCCTACTTCTACCTGGGCATGCCTGCCACCCTCTCCCATCCCACGGCCTTGGGGCTCCTGCCTCCTGGGAGAATTTTCTACTCATCTCAAGTGAAGGGGTCTTGTGGTAGGGAGCACGAGGCCATAGGATCCCACCCATCAGGCTCCCTCTTCCCACTCTTAGGTGGCCTGACAACAGCGGGCACCAGAGGCCTGACCGGCTATTCTCACTCCTGGATACTCTGTTACTCTGTGATTGGGCCAAGTGCTGGGTGCAGCCAGCAATCGATGCAGTGGTGTAGGCAAGGCAGAGGGTTATCAGGCCGCGACTGCATTCCTGACGGAACTCCTATGTCGAGGTCAAGAGGTGGAAGAGGTGGCTGCCTGTGTGTGGTGCCCAGGATGACTCACTACCCACAATGCCTACTGACACTACTGGCGGGGATGGGATCCTGCGGATCCTCAGCGTGGGGCCCAGGAAGAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTATGTAGAGGGGGCCACCTGCTGCCATCCGGTCAAACCTGTAGGGGGTTTGTTTCTGAAGAGAGGTTCCAGGAGAAATACCATCCGTCACTGCCTTCCCATGGGGCCCGGGAGTTAGAGAAGCATCAATGAAGGTTGGAGACAGACCAATCAGCGTTCATATCCTGGCTTTGCTACTTATAGCTGTGTGATCTTGGGTACATTACTTAATCTCTGTGAGTTCTGTTTCCTTATTTATAAGACACGGCAGATAGTAGTACCCACTTCATAATAACACTAGGATGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCTGAAGTGAGTGGATCACTTGAGGTCAGGAGTTCCAGACCGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAGCCAGGAGGCAGAGGTTGCAATGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCCACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGCAACAACAACAACAAAAAACCATAACACTAGGAGAATATGACGGCAGCTGGTTCCACAGAACTTAGAACAGTGCCTGGTGTACAAACCGAATACTCAGTATATGTGAGGTGCCGTTATAATCACTATTACAGAGGTAAGACACAACAACAGCGCTATCATTTTGTGTGAGAGCAGCACTTCAGACTTTTCACAGCGCTTGCCTGTTTATTATCTCAGGTGAGTTAAGACATCATGATTGAGAGTTAGGGGAATCCTAACTGTGGCAAGCACAGCCTCGCTGTAGGAACAGTTAGAAAGAGGGTCAGCAGACTCACTTTCTTTCATGCCACCCCCCAAGCCCTGTGCAGCAGCTTACAGTTATGCAGACCAAGGCCAAGTTCCGAAACGAGACTCAAAAAAAAGCCTGGATGTGCACGAGTACTTGTGTTACAAGCTATCAACGGTGTATTTAAACATCCTTGTGCATTTAAACTTCAAAAACTTGGGAGTGACACGTGAGACGTGCATACAGTAAAAGGCATAAACTTAAAAAAAAAACTGCAATTCATGAAGTGCTAATGTAATTCAGTTGGCATTTCTAGAGTTCAAGAAGCATAATCCAAATTTCTAACTTGCTGAAAACAATCTCACTGCTTTGTGACTTCCTAAACTGCACTCGTGATCCAGCCCCCAAGTTCCCTCAAAGAATACAGTGTGAGAATCAACATTTTTAACCCATTGAAGAGTGTGTCTAAAATACCTTGACACTGTGGAGGGACTTTTACAGGCAACAGAGAAGTTGCAGATCAGATGACCCACTCTGCCTTCTCCTTCCTGCCCCCTCCGGCTGCTTTTTTCTGCCGGGTTAAAGGGCAGCCCAGCCTCAGGGCTGACAGTTTGCTCCCCAGGCACCACCACTCCCGCCTCCCACCTTAACCTTGCATGAGTTTACCTTGAGATGAGATTGACAGCTCCCTCAGCAGTTCGAGGAGGGAAGAATTCCAGGGAGAACCACTTGTCACCAGATTCCAATCGCCGCCTCATCTTCTCCCGGAGTCTCTCATGCCGCTCGGGGTCCAGGCCCGGGGTGGAACATCTCGAACTATCTTTGGAGCTCTCACTGCCACTGCTGGCACTGCCCTCCAAGCAGGGGTTGAGGCTGCTGTTTCCTCTGGCTTCGTTCACCATGGCTGGGTTCCTACTGCACAGGGTGGGGCAGGGAGCATCAGGGGGCAGGCAGCCACACCCCCGACACATCAAGACACCTGAGTGGCAGGTTCAAGCCGGAGGCGCTGTATTTCCACACAGGAAGAAGGCCAAAAAAGGTGACACTGCCCCCTCCCAGTGGCTCCATGCTCCTCAGCTATGGCTGTCCGGGCCGCCTCACTCAAAGCCTTGCCCTCCGCTGCTGCCAGGCTCCTTGCATGCAAGGCAGCCCCCACCCGGCACTGCAACATGCTCCTCGGTGACAGCTACCTGAT
TGGCCAATGGTGATTCTCTTTCCTGGGAATTTGGAACGGAGGCCTGTCCATTAGCCTGGGGAACTGGCTGGAACTGACACTCTGCACACTCAGGAGCAGGCCAGGTGTGTGGAAAAGCATGGGTATCAGGTCTCCCAGATGAAGCACAGATGTGCAGTGGGAAGCGGAGATGGGGGACCCTGTGGCCCCAGAGGGAATGAGGGAGGGCCTTGCTTTTTGACCTCTTCCAGTGCCTTGTGAGGTCTGAGGCCATCTCCTGATCTTGGGTTCCCTGCCCTCTGGAATCCTGTTAGTAAATATCCCTCTTTTGTGGGGTGTTGTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGCCACTGAGGCTGGACTGCAGCGGCACCATCTCGGCTCACTGCAACCTCCGCCTCTTGGGTCCAAGAGATTCTCCTGGCTCAGCCTCCTGAGTAGCTGGGACTACAGCCGTGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCTATGTTGGCCAGGCAGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGGTTACAGGTGTGAGCCACCGCGCCCAGACCCCTCTTTCGTTTTAAAGAAAAGAATAAGGCCAAGCAGGCTAAGGGCACAGCCAGGCAGAGGAACAAAAAGCTAGGGGTCGATGGTGGCAGGCCCAGGAGGGGAGTGGGTGATACAAAAGGAGCAAGGACATGGTGCAGTTCACCTCTGCATGTCCTTCATCCAGCATGGACCCATGAGTGCCCCTGATCACTGTGTCCTGAACCGAACACCGACAGGCTCTCTGGGCATCTCAGCCTCCCTAGCTCCATCCCCGCCACCAGGATGATCCAGCCACTCACCTGCCACACAGATGTCAAAGTAGTCACCAAACTCACTTCGGATGTGCTTCACCAGGTCCACTGCGTAGTTGAAGCCTCCCTCCTCCTCTTCCCACTGGTCACCTATTGGGTCTGCAGGGTTGGTGGAGGTCATAGTCACTGGGTCTCACCCAACCTCCAGAGACCCTTTCTGTTCCCTCTACCTAGCCCCGACACCCAGGACTGCGAGTCCCTGGAAGGCAGAAACTTCATATTATTTAGGTTTGGTTCGTCTCTTTCTAGCACTTGGTAAGACAGCAGGAGGGAAAAAAGCAGCCCACCAGTTCAATATTCACTGCATGCTGACCCTGTGCTGGCGGTGGAGAATAGGAGACCACCGCTGCTTCTCACCGTGCCTGGAGGATTGGAGAGCCCTTCCCTACTTCTACCTGGGCATGCCTGCCACCCTCTCCCATCCCACGGCCTTGGGGCTCCTGCCTCCTGGGAGAATTTTCTACTCATCTCAAGTGAAGGGGTCTTGTGGTAGGGAGCACGAGGCCATAGGATCCCACCCATCAGGCTCCCTCTTCCCACTCTTAGGTGGCCTGACAACAGCGGGCACCAGAGGCCTGACCGGCTATTCTCACTCCTGGATACTCTGTTACTCTGTGATTGGGCCAAGTGCTGGGTGCAGCCAGCAATCGATGCAGTGGTGTAGGCAAGGCAGAGGGTTATCAGGCCGCGACTGCATTCCTGACGGAACTCCTATGTCGAGGTCAAGAGGTGGAAGAGGTGGCTGCCTGTGTGTGGTGCCCAGGATGACTCACTACCCACAATGCCTACTGACACTACTGGCGGGGATGGGATCCTGCGGATCCTCAGCGTGGGGCCCAGGAAGAAGTAAAGGACCATTTCAGGAACCAAGTTCAGGCTACCAAGTGGCCTCCGGGAAAGCCAGAACCCAGAGTGTAGGGGAGTGCTGGCTCCACACCTCCCCGCAGCGCCATGATGTTCTTCAGGCCCAGCTGCTTAGCTTTGTGCAGATGGCCCGTGATCTCCTCCAGGCGCTGACGGCAGCAGGTCATGTGCAGGATGGTCTCCAGGCCACAGTAGTTCACGGCGGTGCTGGCGATCATCATGGAGGAGGTCTCCTTGTCTGAGCCAGGGTCACCTGCTGGGTGCCAGGTCACGTCTTATGTAGAGGGGGCCACCTGCTGCCATCCGGTCAAACCTGTAGGGGGTTTGTTTCTGAAGAGAGGTTCCAGGAGAAATACCATCCGTCACTGCCTTCCCATGGGGCCCGGGAGTTAGAGAAGCATCAATGAAGGTTGGAGACAGACCAATCAGCGTTCATATCCTGGCTTTGCTACTTATAGCTGTGTGATCTTGGGTACATTACTTAATCTCTGTGAGTTCTGTTTCCTTATTTATAAGACACGGCAGATAGTAGTACCCACTTCATAATAACACTAGGATGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTCAGGAGGCTGAAGTGAGTGGATCACTTGAGGTCAGGAGTTCCAGACCGCCTGGCCAACATAGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTGAGGCAGGAGAATTGCTTGAGCCAGGAGGCAGAGGTTGCAATGAGCCAAGATCACACCACTGCACTCCAGCCTGGGCCACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGCAACAACAACAACAAAAAACCATAACACTAGGAGAATATGACGGCAGCTGGTTCCACAGAACTTAGAACAGTGCCTGGTGTACAAACCGAATACTCAGTATATGTGAGGTGCCGTTATAATCACTATTACAGAGGTAAGACACAACAACAGCGCTATCATTTTGTGTGAGAGCAGCACTTCAGACTTTTCACAGCGCTTGCCTGTTTATTATCTCAGGTGAGTTAAGACATCATGATTGAGAGTTAGGGGAATCCTAACTGTGGCAAGCACAGCCTCGCTGTAGGAACAGTTAGAAAGAGGGTCAGCAGACTCACTTTCTTTCATGCCACCCCCCAAGCCCTGTGCAGCAGCTTACAGTTATGCAGACCAAGGCCAAGTTCCGAAACGAGACTCAAAAAAAAGCCTGGATGTGCACGAGTACTTGTGTTACAAGCTATCAACGGTGTATTTAAACATCCTTGTGCATTTAAACTTCAAAAACTTGGGAGTGACACGTGAGACGTGCATACAGTAAAAGGCATAAACTTAAAAAAAAAACTGCAATTCATGAAGTGCTAATGTAATTCAGTTGGCATTTCTAGAGTTCAAGAAGCATAATCCAAATTTCTAACTTGCTGAAAACAATCTCACTGCTTTGTGACTTCCTAAACTGCACTCGTGATCCAGCCCCCAAGTTCCCTCAAAGAATACAGTGTGAGAATCAACATTTTTAACCCATTGAAGAGTGTGTCTAAAATACCTTGACACTGTGGAGGGACTTTTACAGGCAACAGAGAAGTTGCAGATCAGATGACCCACTCTGCCTTCTCCTTCCTGCCCCCTCCGGCTGCTTTTTTCTGCCGGGTTAAAGGGCAGCCCAGCCTCAGGGCTGACAGTTTGCTCCCCAGGCACCACCACTCCCGCCTCCCACCTTAACCTTGCATGAGTTTACCTTGAGATGAGATTGACAGCTCCCTCAGCAGTTCGAGGAGGGAAGAATTCCAGGGAGAACCACTTGTCACCAGATTCCAATCGCCGCCTCATCTTCTCCCGGAGTCTCTCATGCCGCTCGGGGTCCAGGCCCGGGGTGGAACATCTCGAACTATCTTTGGAGCTCTCACTGCCACTGCTGGCACTGCCCTCCAAGCAGGGGTTGAGGCTGCTGTTTCCTCTGGCTTCGTTCACCATGGCTGGGTTCCTACTGCACAGGGTGGGGCAGGGAGCATCAGGGGGCAGGCAGCCACACCCCCGACACATCAAGACACCTGAGTGGCAGGTTCAAGCCGGAGGCGCTGTATTTCCACACAGGAAGAAGGCCAAAAAAGGTGACACTGCCCCCTCCCAGTGGCTCCATGCTCCTCAGCTATGGCTGTCCGGGCCGCCTCACTCAAAGCCTTGCCCTCCGCTGCTGCCAGGCTCCTTGCATGCAAGGCAGCCCCCACCCGGCACTGCAACATGCTCCTCGGTGACAGCTACCTGA
pathogenic
2,916
Is the chromosome 1, position 11950377 variant in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
AGGCTAGTTTAGAGGACAGGGCCTCGGGATCAGCATTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCAT
AGGCTAGTTTAGAGGACAGGGCCTCGGGATCAGCATTTCCACAAGTACCACCCCGTAATTTGGGGATGGGCACGGTCTAGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATN
pathogenic
3,006
Assess the variant on chromosome 1, position 11950455, impacting PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAG
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGN
pathogenic
3,010
A genetic variant on chromosome 1, position 11950455, affects the gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGACCGCAGGCTGGAGACCAAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAG
AGACATCTTCCCGGTATTATAAACACTGCTCTAAAGAAACATGAGTGGTCCCGCACAGGGGCTCACGCCTGTATTCCCAGCACTTTGGGAGTCTGATGATCCACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAAAATTAGCTGGGCATGATGGCACGCACCTGTAATCCCAGCTGCTTAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGGTGGCGTCACTGCACTCCAGCCTGGGCAATAGAGTGAAACTCTGTCTCAAAAAAAAAAAAGAAAATAAAAGAAAAAAGAAACATGAGCTAATGCCCGATCGACCACTGGCATGGGCTTGGTGTCATCTGTGTGCAGTCCATGGGGCTGAGCCCTGCAGGGAGACGAGTATCCTGAGTGCTTCCTTATGTCAGGCACAAGGTTGGGCACTGGCAATAGGGTGATGGACAATACAGAACATGTCATTGCTTACACAGAGCTTGCAATCTAGTGGCATTAAGTCAGCAAGCAAGTGTATCAGCTCACATGAATGAGGGTTGCAGCAGAGGGTTGCTTCAGGCATGGCTGGATCCAGGGATTCAAGCAGCAAAGTGAGGGCCTTGTGTTTCCATCTCTAGGCCCTGTTTGTTTTAATCGTGGTGGCAAGATGACCACCAGCCACAGATTCATGTGCCCCAGTTTCTCAACTTCAGCAGAAGGAGACAGGCTTTCCTTTTTAGGAAAGGCCTGCAGACTGTTCTGTTTTTCACAGAACAGTCCCAGGGAAGGCGCTGATAGGCCATGCTGGGGTCACATGCTCAAATCTCCGGATGTGGGAGGGGCAGGAAGGGTGGGACATTCTGATTGGACAGGCATGGTCACATGACCACCAGGAACCGGCTAATCCTCATACAGGTGGAGAATGGTTTCCTTACAGGGGAGGGTCAGAGTTGCTGGACCCACAGGAGCAAAAAAATTATTTCTTTTTCTCTTTTTTTGAGACGGAGTGTTGCTCTGTCTCCCAGGCTGAAGTGCAATGGAGCGATTTCGGCTCACTGGAACCCCCACCTCCCGGGTTCAAGCAATTCTCCTACTTTAGCCTCCCGAGTAGCTGGAATTAGAGGCATGTGCCACCACACGCCGCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGTCTGGTCTTGAATTCCTGACCTCAGGTGGTCCACACGTCTCGGCCTCCCAAAGTGCTGGGATTACCAGCATGAGCCACCACGGCCAGCCCTGGAAAAATATTTCTTTACCAAAAGCCCGTGTTAAGGGGTGTTTCTCTCCAGGCGCTTGGCCTAGGGGAGGACTGGAATGTGGAGAAGGGGACGTCGGCAGGTGGAGGGCAGAAGGTCCGGCTGCTGAAGAAAGCTCTGGAGAAGCACGCAGACAAGGAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCAGGGCTTCCTAGCCTGGGCCCCTCCGCGGAAGATAGAAGAATATTCTAAAATGAGGCCCTCCCAGAACATCGGGGAAGAAGGGGGACCACTCTAGCTAAGGTTGCCTAGTTTTAGGGTGTCCATTCCCGGTCTTAGTAAAGCCCATTCCCAGGCTTGGTGAAAAGATAAAGAGGAGGTGACCCATGAGTGTGATGGGCCCCCTTTAAGTAAGAGAAGAATGACATGTTGTGGGGACCATCTCTTTGCCCAGGGTGCGGGTGGGAACATGGCAGGCAGGGCTGCAGACAGAGACAGGTCCATTTCCCAGATGGTGGCCCAGGCTGGCGTGGGCAGAGGGCCATTTGTGGAGCACTTGATCCCTGGTCCCTCCTGTCTGTGCCCTCACTGGGCCCCTGCTCACCCTTGCCCTGCTCCGTCTTCTCGCTGCTCTGGCCACAGCTATGACGTGCTGTTTGCATCGGGGCCCCGGGAGCTCCTGAAGAAGTTCCGGCAGGCCAGGAGCCAGGTGGTCTTCTCTGCTGAGGAGCTCATCTACCCAGTATCCGGTGGTGTCCGATGGCAAGAGGTTCCTGGGCTCTGGAGGTGAGAGGCCTGGGTGCAGGGCGCTTGGCCCAGCAGAGGGGTCCATCTACTGCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGNNNNNNNNNNNNNNNNNNNN
pathogenic
3,011
Variant in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), chromosome 1, position 11952620—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1', 'Familial_thoracic_aortic_aneurysm_and_aortic_dissection']
GCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGGTGACAGGGTTTGTGGGCATATGAGTGGAGGTGGATAAGAGGGAAGGGTGGGAGGAGGCCCCTGACTTAGAGGCTGGAAGCTAAGGGTCCGTCTTGGTGTCCCCACCCACCAACCTTCAGGCTTCATCGGTTATGCCCCCAACCTCAGCAAACTGGTGGCCGAGTGGGAGGGCCAGGACAGCGACAGCGATCAGCTGTTTTACACCAAGATCTTCTTGGACCCGGAGAAGAGGGTAAGAGGCAGTGGGCGGGCCAAGGAGAGGGGGCTGGGGATCCACCGGCCAGGCTGCACGGGAACAGCTCCTCTCAGGCCTGAACCCCTGGGTTGGTGTCTTAGTCTATGCAGGCTGCTCTGACAAACTGCCATAGGCTGGGTGGCTCCCAAACAACGGATGTGGATTTCTCATGGTTCTGGAGGCCGGAAGGGTGAGATCACAGTTGGGTTCTGGTCAGAGCCCTCTAACTGGTACAGACACAGCTGACTTCTCTCTGTGTCCTCAGATGGTGGAAGGGGGTAGGGAGCTCACTGGGGCCTCATTGATAAGGACACTAATCCTATTTTTTTATTTTTGGGATGGAGTCTCACTGTATTGCCCAGGCTAGAGTACAGTGGTGCGATCTCGGCTCACTACAGCCTCTACCTCCCTGGTTCAAGCGATTCTCGAGCCTCAGCGTCTCGAGTAGCGGGGACTACAGGCGTGCACCACCACGTTTGGCTGATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTACGTTCGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGTGATTTACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGTCGTGAGCCACCGTGCCCGGCTGTCGGGTCTTAAAGAGGCAGCATTGTTCATTGGTTCAGAATAAGGACTTCAGGGCCAGGCTGCCTGGGTTCCAATCCCAGCTCACCATTTACTAGCTGTGTGACATTGGGCAACTTCTCTGTCCCTTGTTTTTTCCGTTATGAAATGCAATAATGGGCCAGACCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGCCAAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATATAAAGATTAGCCGTGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTGCAGCCTGGGTGACAAGAGCCAGACTCCATCTCAAAAAAAAAAGCAATAATGATAATACTTTCTCACAGAGATGTTGTCAGGATTAAATTGATTAATATATGTAGAATAGTTTATTTATTTATTTGAGACAGGGTCTCACTGTCACCCAGGCTGATGCGCAGTGGCAGAAACATAGCTCACTGCAGCCTCAGCCTCCCGGACTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCCTGCGTCACCATGTCTGGCTAATTTTAAGATTTTTTTATAGAGATGAAGTTTTGCTATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGAATGACAGGAGTGAGCCACCGCACCCGACTCGTGTAGAATATTTGGAGTAGCGGCCAGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCGGGGGGCGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCTCAATGTGGTGAAATCCCATCTCTAGCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCACATGCCCGTAGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGGTCGTGCCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCTTTCTCAAAAAAAAGAATATTTGGAGTAGCTATGTGCGTGTAGTGGAGTGCTTGGCAGGTGCTGGTTACTCTTAACGGCCGTCATTGTTGTAGGTGAGCCGGCTGCATTCTTAGATTCCTTCCAGTTCAGAGTCCCTGGTTTTCTGTGAGTAGAGCCACTAGACTGTAGACCCCAGGAGCTTGGCTG
GCCTTTGTGGGGACCCCCCTTGTTTGACGTGCAATCTGGGTGTCTCACAGGTCTCCAGTGCAGAATGTCCTGAATAGAGCTCCTGACTTTTCAACCCCAAATGTGCTCCCCTGCAGTTCTGATCTCATTCAACAGACACGCAGCCCCATAGACAGAACCCAGGAGTCACTCCTGACTCCTCCCTTGCCCTCCTCCACCTACGTCCAATGCCAGTCACCTGTCTACTACTTTTTAAATTTTGAGACGGCATCTCAGTCTGTTGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTCACTGCAGCCTCCGCCTCTTGGGCTCAAGCAATCCTCCTGCCTCAGCCATCCAAGTCACTGGGATTACAGGCATGCACCACTATGCCCGGCTAATTTTTGTATATTTAGTAGAGATGGGGTATCGCCATGTTGGCCAGGTGGGTCTCGAACTCCTGGCCTTAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCACCACACCTGGCCACCTGCCTCCTACTTCCTAAAGATCTCTGGAATCTGCTCTCTCTGGCCCACAGTTCACTGCCACCATTCTCACTGGGCTCCTGGCCGTTGGTAGGAGCCTCCTTACTGCTCTGCCATTCCCTACCCTCATGCCCTTCCAGGCCATTCTCCATCCAGCAGCCAGAGGTGTCTTTAAACGATGCAAATCCAAGGCCAGGCGCGGTGGCTCACGCCTGTAATGTCAGCACTTTGGGAAGCCGAGGTGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATATAAAAGGTAGCCGGGCGTGGTGGTACACGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGAGAATCTCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATGGTGCCACTGCACTCAAAAAAATAAATAATTTTTTTAAATAAAAAATAATACTATATTTTTTTATAATGTAAAATATATTATATATATTATATATAATAATTTATATAATATATATAATATATATATTGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGATGAAACCCCGTCTCCACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACATTGTCTTAAAAATAAATAAATAAATAAAGATGCAAATTCACACACATCACTTAATGACTTTCCACTGCACGGAGAATAAAATCCACAGGCCTCTTTTCAACCTTAGATGGGGATCTGCCATCTGCCCTCAACAGACACTTTTTTCCACTGGTCCAGAGTAAGCACAGTCCAGATGGCCTTGCCCTGGCCCAGGCCCAGGAGTAGGGATGTCCCATTGCTCTTGTGGTTGCTTGTCACCAGTCTGTACTCTAGCCAGGGGCCCATGTGGGCTTCCCCACTATGCCAGGTCTCAGCCCCCAAGGCACTCTGTGAGCTTGGCCCAGCCTTTCCCTTCTCTGGGCCAGGTTTCCCAGATAACTGTAAAAAGGGACACCAGGCCTGTATCCTCCCAGCCCTGCTCTCCAGGGGCTCCTCGTACAATCCGTTTCTTCACCACCTATATGGTGCCCAGCACTGAACAGTACAGCTTAGTGGGCACCATTGGTCTTATTCTTGGGGTCATTAGGAACTCATTAATAAGTGACATTCACTGGCAGCCCCATTTCCAACCTGCAGCCCCACCTCCTGTCAATTCAGGAGGACTTCTGAGAGGTGACAGGGTTTGTGGGCATATGAGTGGAGGTGGATAAGAGGGAAGGGTGGGAGGAGGCCCCTGACTTAGAGGCTGGAAGCTAAGGGTCCGTCTTGGTGTCCCCACCCACCAACCTTCGGCTTCATCGGTTATGCCCCCAACCTCAGCAAACTGGTGGCCGAGTGGGAGGGCCAGGACAGCGACAGCGATCAGCTGTTTTACACCAAGATCTTCTTGGACCCGGAGAAGAGGGTAAGAGGCAGTGGGCGGGCCAAGGAGAGGGGGCTGGGGATCCACCGGCCAGGCTGCACGGGAACAGCTCCTCTCAGGCCTGAACCCCTGGGTTGGTGTCTTAGTCTATGCAGGCTGCTCTGACAAACTGCCATAGGCTGGGTGGCTCCCAAACAACGGATGTGGATTTCTCATGGTTCTGGAGGCCGGAAGGGTGAGATCACAGTTGGGTTCTGGTCAGAGCCCTCTAACTGGTACAGACACAGCTGACTTCTCTCTGTGTCCTCAGATGGTGGAAGGGGGTAGGGAGCTCACTGGGGCCTCATTGATAAGGACACTAATCCTATTTTTTTATTTTTGGGATGGAGTCTCACTGTATTGCCCAGGCTAGAGTACAGTGGTGCGATCTCGGCTCACTACAGCCTCTACCTCCCTGGTTCAAGCGATTCTCGAGCCTCAGCGTCTCGAGTAGCGGGGACTACAGGCGTGCACCACCACGTTTGGCTGATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTACGTTCGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGTGATTTACCCGCCTCGGCCTCTCAAAGTGCTGGGATTACAGTCGTGAGCCACCGTGCCCGGCTGTCGGGTCTTAAAGAGGCAGCATTGTTCATTGGTTCAGAATAAGGACTTCAGGGCCAGGCTGCCTGGGTTCCAATCCCAGCTCACCATTTACTAGCTGTGTGACATTGGGCAACTTCTCTGTCCCTTGTTTTTTCCGTTATGAAATGCAATAATGGGCCAGACCCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGCCAAAGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTGTCTCTACTAAAAATATAAAGATTAGCCGTGCGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGGACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCATTGCACTGCAGCCTGGGTGACAAGAGCCAGACTCCATCTCAAAAAAAAAAGCAATAATGATAATACTTTCTCACAGAGATGTTGTCAGGATTAAATTGATTAATATATGTAGAATAGTTTATTTATTTATTTGAGACAGGGTCTCACTGTCACCCAGGCTGATGCGCAGTGGCAGAAACATAGCTCACTGCAGCCTCAGCCTCCCGGACTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTATAGGCCTGCGTCACCATGTCTGGCTAATTTTAAGATTTTTTTATAGAGATGAAGTTTTGCTATGTTGCCCAAGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTTCTGCCTCAGCCTCCCAAAGTGCTGGAATGACAGGAGTGAGCCACCGCACCCGACTCGTGTAGAATATTTGGAGTAGCGGCCAGGTGCGGTGGCTCACACCTGTCATCCCAGCACTTTGGGAGGCGGGGGGCGGGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGCTCAATGTGGTGAAATCCCATCTCTAGCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTGGGTATGGTGGCACATGCCCGTAGTCCCAGCTACTCAGGAGTCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGTCGAGGTCGTGCCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCTTTCTCAAAAAAAAGAATATTTGGAGTAGCTATGTGCGTGTAGTGGAGTGCTTGGCAGGTGCTGGTTACTCTTAACGGCCGTCATTGTTGTAGGTGAGCCGGCTGCATTCTTAGATTCCTTCCAGTTCAGAGTCCCTGGTTTTCTGTGAGTAGAGCCACTAGACTGTAGACCCCAGGAGCTTGGCTGN
pathogenic
3,017
The genetic variant at chromosome 1, position 11956963, affecting gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
GGGTGGATCCTCAGAGGGGTGATAGGAAGAATTCCAGGCAGGGCCCGAGCCCAGGGAGGAGAAATGGGCTGCTTCTTTCTGGCCATTGTGCTGAGAGGTCACTGGCCTCATCCCCAGGTCCCCAGGGGCCACTTGGATATCCTGGCGCAGAGCCATGTCTCTCTTGGGGGCGGGGGACAAGTGAGCATTCAGCCTGGGAGGAGTTGGGGGATGCGCACAGCAGGTGCTGGACCCCCTGCCCTGCATACCAGGTCCTTACAGGTGGGCCCTCTTTCCCCACTTTCCCGGCCCTCCCACCTTCCAGGTGAAGGAGTCCTGGGCTAGGGGCAGGAACTCAGCTGGTGGGACAGGCAGCTTGGGAAGCAAAAGGCTACTTGACCCTTGATGCCGCAAACATCCCTGGGCCTGGCCTCATGTCTGTGGCTGGTGATGACATTGCTTTGCCGCAGGTCTTCCTGTCTTCCTGAGTGACCTCAGGCAAGTCACACCTCCTCCCCACAGGGGACTCAGTTTTCTTATCTTTACAAAAGGGAAGTGAACCGGATCCACTGATTGCTGATTTTGTGGATAAATGGGCCCTTTTGAGAATCTGATGAAAGCTACGGCTCTGCTCCCAGAGAAACGCAGAAAATGCCCTTTGCCTGTGGTTTCTGGGGGTTAAGAAGCACTGAGTTCAGATCCACGCAGGTCAGGAGCTATCTGTTTTCCTTTTTTTTTCTTCTTTTTTAAGATGGAGTCTTGCTCCATCGCCCAGGCTGGAATGCAGTGGCGAATTCTCGACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCATCGTGCCCAGCCCTATTTTAATTTTTAAAATAGAGACAGGGTCTCACTATGTTGCGCAGGCTTGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCAGCGTGCCCAGCTGAAATACCCATTTTCCTATGTGCAGACTAATAGGGTCAAACATGGGTATTGGGGGCCAGGCACTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCAGAGGTCATGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTACACTCCACACTGGGCAATAGAATGAGACTCCATTTCTAAAAAACAAAAAACAAAAACACACACAAAAAACATGAGTATTGGAACCCTGCTGCAGGGGCTCCCTCCACTGGGACAAGATCTGTCCTGATCATGCCCAGGCCTCCCCTGCATGTGGCTCTGGCATTTTCTCAGTGCTGCTCTGCCTACTCAGAGAAGGCGCGTCCCAGACCCTTTCTCTTGGGGCTTCTCTGAGGTGCCTGGAGCTGGGATGTTCCAGGTCTTCGTTCTTCTCCCAGCCCCTGCTTCTGACTGTAAGTAACCACAACAAGTACAGGGGTTGCCGTGGATTCTGTGCTCATGATGGGCCAGGCTTGGTGCCCCACGCTTGTTCAACACAAATCCTCCCCCTCACCCCATGAAGAAGGGATTATTCCTATTTTATAGATGAGGAAACTGAGGCTTAGAGAGAAGTGACTTGCCCGAGGACATAATCTACTCACTGCACAGCTGGGATTTGAGCCCAGCTGGTTGGACCCTGAGCCTGACCTCTGGGTCTGATGCTGGGTGGGACTGTGCTTTCTGACCCCCAGATGAGGTCGTGCTCAAGTTTGAAATGGGCCATGTGAGAGCGAGGAACCTGGCCTATGACACCCTCCCGGTCCTGATCCATGGCAACGGGCCAACCAAGGTAGGGGGTCCCCAGCCCCTGGGGAGTGTGGGAGGGGGCCAGAGCCCTAATTTCATTCTCACTGTGACCCCACAGTGTCTCCCTGGGGCCAGGGCCACCTTCCTGGGGCCTGCTATGAACTCACTGCCTCTGTCCTCACATCTGAGCTCAGCGTGATGCCTTCTTTTCCTGCTGTGGTGGTCAGTGGTACTCTGTCTGTTCTTGCTGGTCACAGGACACGTAGGAGGCTGCCATCCCCTTCCAGGCCTAGGCTGGGCTACCAGAGCCATCTGCACTGTCACCCCAGGGCAGAGTCACTTATTCACTCAGTAAACCTTTATTTCATGTTTGCACCAGACAGTAAGACATAGTCATAAGCAGGACGGATGTCCTGCATTCATGGTGACAGAAGGGACTGGGTGCAGATGCGGCCAGGGACAGAATGGACCTCACTGGTCCCTGGGGAACTGGCTCATAGCTCATAGCATATTTGAGTGTGGTCCTTCACCGCTGGAATGAGGGAGAGGAAGGAGGATGTGATGTGTTTAAAATGCAAATTTGCTGATTTCACCCAGGATCTGTTCAGATGGAATCTCTGAGCGGGGTGGGACCCAGGAATCTGCATTTTACAAGCTCTCGGGAGAAGCACTAGAGTGCCAAGCCCTCCCCTGCCCTCTCTCAGAGCGGCTTGGTGATCTCCTGGGGATGGAGCATTATCTCCAAGACCCTCTTAGGGAGTGGGAGGGGGCTGGATGGTGCTGACCCACTGGGGGCCCAGGGAGATGTGAGTCAGGGCTATGGCAGGTGGGGCTGGCTGGCTTCTCTGTGACCCCACGTCTCCCCGACAGCTGCAGTTGAACTACCTGGGCAACTACATCCCGCGCTTCTGGACCTTCGAAACAGGCTGCACCGTGTGTGACGAAGGCTTGCGCAGCCTCAAGGGCATTGGGGTGAGGCTGCGCCCAGGCCTGTGCCTGAGGGACACGGGGGGCTCAGTCCCCTGAGATGGCGAGATGGGTGATTCTGGAATAGACTCCATTGTCTTTGGTGGAAAGTGAAGGGGTCACCTCCCTGCCTGGGGTTCTATCCCGGTTGCCACCCAAGTGCCTCCTCCTGGAAGCCCTCTCAGATTGCATGTCTCTAGCTTCCCCCGAGATGTCCAGGTTCTGGTTTCTTCTGCCTGGTCCTTCAGGCTCTCCTGCAGCCCCCTCCCCATCCCATGAACCTCATCCTCATTTATGACTCACCTCGAACACCACGCCAGCCACGATCTCCTGACAGCAGGCCCTCAACCGAGTCCTTGTTCCAGGCCTGGGCTCCTGCTGCTCTCTCCCCGGGGCACCCTCCTGCTGCTTCCCTGCCCCCCCGTACCCCCTGACTGGAGTTCCCCGGCCCGGGCACCTTTCTTGGGAAGTCTACATGCTTCTGATTCTGGCTCTGACTCCCTTGGGCCACCCTGGGGTGGAGTGGCAGTGCTGTGACTGGACACTGCTGGACTCTTGTGCCGCCCTCCCTGGTGCAGGATGAAGCTCTGCCCACGGTCCTGGTCGGCGTGTTCATCGAACAGCCCACGCCGTTTGTGTCCCTGTTCTTCCAGCGGCTCCTGCGGCTCCACTACCCCCAGAAACACATGCGACTTTTCATCCACAACCACGTGAGTAACAGGCGCTCTGTGGGGTCGTCATGTGGCTTAGATCCAGGGCCCAGCTTCACAAGGTAGCCCGAGACCTCTGAGGGTCTCACCGAATCTAGCTTATCTGGGCCAAATGACAATCACCAGTGGACTGTGTCCCCAAATCACTGAGTTAACTTTGGAGTCAGACTGGGTGAGTTTGAATCCCAGCGCCGCTATTTTATTGGCTGTGTGACCTTGGGCACATTACTCAACCTCTCTGTGCTTTAGTTTCTCATCTATAAAATAGGCATAAAAGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGCAGATTATCTGAGGTCGGGAGTTCGAGACTAG
GGGTGGATCCTCAGAGGGGTGATAGGAAGAATTCCAGGCAGGGCCCGAGCCCAGGGAGGAGAAATGGGCTGCTTCTTTCTGGCCATTGTGCTGAGAGGTCACTGGCCTCATCCCCAGGTCCCCAGGGGCCACTTGGATATCCTGGCGCAGAGCCATGTCTCTCTTGGGGGCGGGGGACAAGTGAGCATTCAGCCTGGGAGGAGTTGGGGGATGCGCACAGCAGGTGCTGGACCCCCTGCCCTGCATACCAGGTCCTTACAGGTGGGCCCTCTTTCCCCACTTTCCCGGCCCTCCCACCTTCCAGGTGAAGGAGTCCTGGGCTAGGGGCAGGAACTCAGCTGGTGGGACAGGCAGCTTGGGAAGCAAAAGGCTACTTGACCCTTGATGCCGCAAACATCCCTGGGCCTGGCCTCATGTCTGTGGCTGGTGATGACATTGCTTTGCCGCAGGTCTTCCTGTCTTCCTGAGTGACCTCAGGCAAGTCACACCTCCTCCCCACAGGGGACTCAGTTTTCTTATCTTTACAAAAGGGAAGTGAACCGGATCCACTGATTGCTGATTTTGTGGATAAATGGGCCCTTTTGAGAATCTGATGAAAGCTACGGCTCTGCTCCCAGAGAAACGCAGAAAATGCCCTTTGCCTGTGGTTTCTGGGGGTTAAGAAGCACTGAGTTCAGATCCACGCAGGTCAGGAGCTATCTGTTTTCCTTTTTTTTTCTTCTTTTTTAAGATGGAGTCTTGCTCCATCGCCCAGGCTGGAATGCAGTGGCGAATTCTCGACTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCACACCACCATGCCCGGCTAATTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGACGTGAGCCATCGTGCCCAGCCCTATTTTAATTTTTAAAATAGAGACAGGGTCTCACTATGTTGCGCAGGCTTGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCAGCGTGCCCAGCTGAAATACCCATTTTCCTATGTGCAGACTAATAGGGTCAAACATGGGTATTGGGGGCCAGGCACTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCAGAGGTCATGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAAAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCATGCCACTACACTCCACACTGGGCAATAGAATGAGACTCCATTTCTAAAAAACAAAAAACAAAAACACACACAAAAAACATGAGTATTGGAACCCTGCTGCAGGGGCTCCCTCCACTGGGACAAGATCTGTCCTGATCATGCCCAGGCCTCCCCTGCATGTGGCTCTGGCATTTTCTCAGTGCTGCTCTGCCTACTCAGAGAAGGCGCGTCCCAGACCCTTTCTCTTGGGGCTTCTCTGAGGTGCCTGGAGCTGGGATGTTCCAGGTCTTCGTTCTTCTCCCAGCCCCTGCTTCTGACTGTAAGTAACCACAACAAGTACAGGGGTTGCCGTGGATTCTGTGCTCATGATGGGCCAGGCTTGGTGCCCCACGCTTGTTCAACACAAATCCTCCCCCTCACCCCATGAAGAAGGGATTATTCCTATTTTATAGATGAGGAAACTGAGGCTTAGAGAGAAGTGACTTGCCCGAGGACATAATCTACTCACTGCACAGCTGGGATTTGAGCCCAGCTGGTTGGACCCTGAGCCTGACCTCTGGGTCTGATGCTGGGTGGGACTGTGCTTTCTGACCCCCAGATGAGGTCGTGCTCAAGTTTGAAATGGGCCATGTGAGAGCGAGGAACCTGGCCTACCTCTGGCCTATGACACCCTCCCGGTCCTGATCCATGGCAACGGGCCAACCAAGGTAGGGGGTCCCCAGCCCCTGGGGAGTGTGGGAGGGGGCCAGAGCCCTAATTTCATTCTCACTGTGACCCCACAGTGTCTCCCTGGGGCCAGGGCCACCTTCCTGGGGCCTGCTATGAACTCACTGCCTCTGTCCTCACATCTGAGCTCAGCGTGATGCCTTCTTTTCCTGCTGTGGTGGTCAGTGGTACTCTGTCTGTTCTTGCTGGTCACAGGACACGTAGGAGGCTGCCATCCCCTTCCAGGCCTAGGCTGGGCTACCAGAGCCATCTGCACTGTCACCCCAGGGCAGAGTCACTTATTCACTCAGTAAACCTTTATTTCATGTTTGCACCAGACAGTAAGACATAGTCATAAGCAGGACGGATGTCCTGCATTCATGGTGACAGAAGGGACTGGGTGCAGATGCGGCCAGGGACAGAATGGACCTCACTGGTCCCTGGGGAACTGGCTCATAGCTCATAGCATATTTGAGTGTGGTCCTTCACCGCTGGAATGAGGGAGAGGAAGGAGGATGTGATGTGTTTAAAATGCAAATTTGCTGATTTCACCCAGGATCTGTTCAGATGGAATCTCTGAGCGGGGTGGGACCCAGGAATCTGCATTTTACAAGCTCTCGGGAGAAGCACTAGAGTGCCAAGCCCTCCCCTGCCCTCTCTCAGAGCGGCTTGGTGATCTCCTGGGGATGGAGCATTATCTCCAAGACCCTCTTAGGGAGTGGGAGGGGGCTGGATGGTGCTGACCCACTGGGGGCCCAGGGAGATGTGAGTCAGGGCTATGGCAGGTGGGGCTGGCTGGCTTCTCTGTGACCCCACGTCTCCCCGACAGCTGCAGTTGAACTACCTGGGCAACTACATCCCGCGCTTCTGGACCTTCGAAACAGGCTGCACCGTGTGTGACGAAGGCTTGCGCAGCCTCAAGGGCATTGGGGTGAGGCTGCGCCCAGGCCTGTGCCTGAGGGACACGGGGGGCTCAGTCCCCTGAGATGGCGAGATGGGTGATTCTGGAATAGACTCCATTGTCTTTGGTGGAAAGTGAAGGGGTCACCTCCCTGCCTGGGGTTCTATCCCGGTTGCCACCCAAGTGCCTCCTCCTGGAAGCCCTCTCAGATTGCATGTCTCTAGCTTCCCCCGAGATGTCCAGGTTCTGGTTTCTTCTGCCTGGTCCTTCAGGCTCTCCTGCAGCCCCCTCCCCATCCCATGAACCTCATCCTCATTTATGACTCACCTCGAACACCACGCCAGCCACGATCTCCTGACAGCAGGCCCTCAACCGAGTCCTTGTTCCAGGCCTGGGCTCCTGCTGCTCTCTCCCCGGGGCACCCTCCTGCTGCTTCCCTGCCCCCCCGTACCCCCTGACTGGAGTTCCCCGGCCCGGGCACCTTTCTTGGGAAGTCTACATGCTTCTGATTCTGGCTCTGACTCCCTTGGGCCACCCTGGGGTGGAGTGGCAGTGCTGTGACTGGACACTGCTGGACTCTTGTGCCGCCCTCCCTGGTGCAGGATGAAGCTCTGCCCACGGTCCTGGTCGGCGTGTTCATCGAACAGCCCACGCCGTTTGTGTCCCTGTTCTTCCAGCGGCTCCTGCGGCTCCACTACCCCCAGAAACACATGCGACTTTTCATCCACAACCACGTGAGTAACAGGCGCTCTGTGGGGTCGTCATGTGGCTTAGATCCAGGGCCCAGCTTCACAAGGTAGCCCGAGACCTCTGAGGGTCTCACCGAATCTAGCTTATCTGGGCCAAATGACAATCACCAGTGGACTGTGTCCCCAAATCACTGAGTTAACTTTGGAGTCAGACTGGGTGAGTTTGAATCCCAGCGCCGCTATTTTATTGGCTGTGTGACCTTGGGCACATTACTCAACCTCTCTGTGCTTTAGTTTCTCATCTATAAAATAGGCATAAAAGTCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCCAGGTGGGCAGATTATCTGAGGTCGGGAG
pathogenic
3,033
Evaluate this variant at chromosome 1, position 11964227, gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
CTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGTGATGACCTTCACATAATTTTTACATCTTCTTTTGATTTTTGTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACTGCAAGCTCTGCCTCCCACGTTCACGCCATTCTCCTGTCTTAGCCTCCCGAGTAGCTGTGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCATCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCTGCCGATTTGTTTTTTTCTTGAAACAACTTAAAAACATAAAATCAGCCAAGTGCAGTGGCTGTAATCCCAGCACTTTGGGAGGCCAAGGATTGCTTGAGCTGGGGAAGTTGAGGCTGCAGTGAGCTATGATTGTGCATTCCAGCTTGGCTGACACAGTGAGACCCCCATCTCTAAAAAAGGAAAAAAGGCCGGGTGCAGTGGCTCGCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGCACGCCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCGTTCTCAAAAAAATAAAATAAAATAAAAATAAAAAAAAGAAAAACATAAAGCTGTTCTTAGCCCATGAGCTGTACAAAACCAGGCAGGGCCAGAGTTTGACTCACAGACCCTCGTTTGCTGAGTCCTGTACCAGATAAACAAAAGTAACACAGATTTTTAAGGCTTTTGGTACAAGTTACCAAATTGCATTTCAGAAAGGCAGCCCCAGCTTACTCCCCACCCTGGGCCATGTAGGCACCTGTGGGCTGTGTTCTTCCCAGTACCAGGATTTTCAGGGCACTTGATACCAGTTGCCAACCTCTGGGCCTTGGGTGAGAGAGCCCAGCAGTCCAGGGGTTTGGGACTCAGAGTCGGGAGGAACCTTTGAGGCTGCTGGTGTGACCTCTCTAAAGCCCCTTGGCTGATATGTGGTGAAGCCAGACTGTGGTCACAGATGTGAGCAGCCACCAGTAGCTCCAGGATCAGGTGCACTGACCCTGTGTCCTCCTCCTTGCAGAGACCTGTGCCGGCAGGACCGCAGCTGCACCTACTACTTCAGCGTGGATGCTGACGTGGCCCTGACCGAGCCCAACAGCCTGCGGCTGCTGATCCAACAGAACAAGTGAGGCTGCTCCGTCTGCACCCAGCACTGCTCAGGACTGGCCTGGTCCTGGGGTGGCAGCCCTCCTTGCCTTCCTCCTCCTCCTCCTCATCCACCTCCTCTTCCTCCTCTTTTTCCTTCTCCTGCTCCTCTTTCTCCTCCTCGTCTTCCTCCTTGTCTTCCTCCTCCTCTTCCTCTTCCTCCTCTTCCTCCTTTTTCCTCCTCCTCCTCGTCTTCCTCATCCTCTTTCTCCTCCTCCTCTTCCTCCTCCTCCTTGGCCTCACCTATTACCCAGAGCTGTGGATCCCCAGCCTGATACCCCAGGTTCTGATAGAGAAGGTGTCCTGCCCTGTCTGCTCCTGGCTGCCCCATGGGAGGGAGCAGGTACCAGAAGAGCCAAACCCCCGACACCCCGGCCAAGGCACTGCCTGTCTCAGTGAGGTGCTTGGGGATCCCTGCGTGCAGGTTGAGGGGCACCTACCTCCCCCCATCCCTGGTTAGTGCTGTCTCCTACTCCCAGTGGGCAGCGACCTCCTACTGAGGTGCTCCCTTCCCTCAGGAACGTCATTGCCCCGCTGATGACCCGGCATGGGAGGCTGTGGTCGAACTTCTGGGGGGCTCTCAGTGCAGATGGCTACTATGCCCGTTCCGAGGACTACGTGGACATTGTGCAGGGGCGGCGTGTGTGAGTACCTGCAGGGTGGGGGTGGGTGGGGGACACCTTCATCTGGCTTCTGCCTGGGCTTGTGGGGCTCCCTCCCTATTATTCCTGTTCTTGTTACCCTCAAATTCCTGTTGAACCTGAAGCAAGGAAGACTTCAGTTAGACACACAGAAGGACTTCCTGACAAATAGGCCCATGTGTCCAGGGCGGGGGAATCAAATCAGCACAATTGTGCCCCCCTAGCCTGTGACTTCCCTTCTCACACCCAGACTCCAGGCTATGACTCCCCACCACCACCCTGTGACCCCCTCCATCTTCCCCACCACCAGCCTCTGACCCCCACCCGCTTTCTGTCTCTCCCACAGTGGTGTCTGGAATGTGCCCTATATTTCAAACATCTACTTGATCAAGGGCAGTGCCCTGCGGGGTGAGCTGCAGTCCTCAGATCTCTTCCACCACAGCAAGCTGGACCCCGACATGGCCTTCTGTGCCAACATCCGGCAGCAGGTCAGCCAGGAGCGGGCAGCACAGGACGCCCTCTGGATGGGGCAGGCGGGAAGGTGGGCCTCCAGCTCTGACCCTCATGGTGGGCCGCCTTGTCACCGTAGGCCTGGGAGCTCCAGAGATTCTAGCAGGGCATCTCGGAAGCCACCAGGGCCTGCTGGAGGAATGGGGGCCGTCGGGCACGAGGGCTGGTCCTCAGGGGTCTGCAGGGACCATTTTAGCTGACCTGGTTTTTATACCATCTATTTTATTTACATTTTTGGAATAGCCCAAAGAAAACGGAACTTTCCACCTAAAGGTACTCCAAGTGATGTGCCCGAGAGACACCTCACCCTGTCTCTGCGCCCCACCCCATATATTTTTGTGACTTTTTTTTTTTTTTTAAACATGCAGCAAGATGAAGTTTTCCCCTGTGACCAACATTTCAGGACCAGAACACGCTCCTTTTCTTTTACGCATTTTTTCTTTCATTCTGTGTTCAGTCCTCTGGGAAGACTTCCCTGATCACATTCTTAGTGTCAGGCCTGGGCTGGGCCCTGGGGACATAGCGGTGACTGCACTTGGTCTCTGATATTGGGAACTTCAGTTCGGCGGGTGGAGGAGGCTGCACTGTTGCCCGTCTGGGAGCGTGCAGGGGAGGGGTGAGGGCAGGGGAGGGGTGGGGGAGCGCCTCTTCCACCGGGCCTGTCCTCCCCAGGATGTGTTCATGTTCCTGACCAACCGGCACACCCTTGGCCATCTGCTCTCCCTAGACAGCTACCGCACCACCCACCTGCACAACGACCTCTGGGAGGTGTTCAGCAACCCCGAGGTGAGGCCAGGGTGGGCACATAGGGGCTGGGAGCAAAGGGGCCCAGTGATCCTGCAGTCGGAGGGACTTCCCTCTCAGAGTCTTACAACAGCCAGGACCCCTGTAGGCCACCTGCCACCCTCCCTTCACCCCAGGAGGCTATAGGGCAGGATTTGGGTAGGGAGAGAAGGGTGTCCAGAGAGGCAACACCATCTATTGGAGGAGGGACCAGGACTCAAGAGGCCTGGGTTTGTGGCCTAGATCTGCCATCATCTGGGACTTAGTTGAGCCTTCCAGCTTTGGGGACCTTAGTTATCTTAGCTCCAAAATGGGTATACTGTCCCAGCCTGTCTTACCCATGAGGGTGTTGTGATGATCAGAAGGGGAGACAGTTGTAACTGTTTCTAGACGTTGGGAGCTCACAGCTGATGGGTGTAAGCACATGCCTGCACACAGACATATACACACAAGCACACACATGTACATACATGTGCAAACACCACCTCCTATGGGCACACCTGTGCACCCAGACAACACACACGCACCCAGTGGGTGCAGGTGAACACCTGCCTCTGTCAAGCACGTACACCTTCACTCCCACTTTGAGGGGTCTGCTCTGAGCATCCCTGGCAGTTGAGCCAATGGTGAGGACCCTAGCCTGCTTCCCACTTCCCACAGGACTGGAAGGAGAAGTACATCCAC
CTCAGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGCACCTGGTGATGACCTTCACATAATTTTTACATCTTCTTTTGATTTTTGTTTTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATATTGGCTCACTGCAAGCTCTGCCTCCCACGTTCACGCCATTCTCCTGTCTTAGCCTCCCGAGTAGCTGTGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCATCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCTGCCGATTTGTTTTTTTCTTGAAACAACTTAAAAACATAAAATCAGCCAAGTGCAGTGGCTGTAATCCCAGCACTTTGGGAGGCCAAGGATTGCTTGAGCTGGGGAAGTTGAGGCTGCAGTGAGCTATGATTGTGCATTCCAGCTTGGCTGACACAGTGAGACCCCCATCTCTAAAAAAGGAAAAAAGGCCGGGTGCAGTGGCTCGCATCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCTGGCATGGTGGTGCACGCCTCTAATCCCAGCTACTTGGGAGGCAGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCATTCCAGCCTGGGCAACAGAGTGAGACTCGTTCTCAAAAAAATAAAATAAAATAAAAATAAAAAAAAGAAAAACATAAAGCTGTTCTTAGCCCATGAGCTGTACAAAACCAGGCAGGGCCAGAGTTTGACTCACAGACCCTCGTTTGCTGAGTCCTGTACCAGATAAACAAAAGTAACACAGATTTTTAAGGCTTTTGGTACAAGTTACCAAATTGCATTTCAGAAAGGCAGCCCCAGCTTACTCCCCACCCTGGGCCATGTAGGCACCTGTGGGCTGTGTTCTTCCCAGTACCAGGATTTTCAGGGCACTTGATACCAGTTGCCAACCTCTGGGCCTTGGGTGAGAGAGCCCAGCAGTCCAGGGGTTTGGGACTCAGAGTCGGGAGGAACCTTTGAGGCTGCTGGTGTGACCTCTCTAAAGCCCCTTGGCTGATATGTGGTGAAGCCAGACTGTGGTCACAGATGTGAGCAGCCACCAGTAGCTCCAGGATCAGGTGCACTGACCCTGTGTCCTCCTCCTTGCAGAGACCTGTGCCGGCAGGACCGCAGCTGCACCTACTACTTCAGCGTGGATGCTGACGTGGCCCTGACCGAGCCCAACAGCCTGCGGCTGCTGATCCAACAGAACAAGTGAGGCTGCTCCGTCTGCACCCAGCACTGCTCAGGACTGGCCTGGTCCTGGGGTGGCAGCCCTCCTTGCCTTCCTCCTCCTCCTCCTCATCCACCTCCTCTTCCTCCTCTTTTTCCTTCTCCTGCTCCTCTTTCTCCTCCTCGTCTTCCTCCTTGTCTTCCTCCTCCTCTTCCTCTTCCTCCTCTTCCTCCTTTTTCCTCCTCCTCCTCGTCTTCCTCATCCTCTTTCTCCTCCTCCTCTTCCTCCTCCTCCTTGGCCTCACCTATTACCCAGAGCTGTGGATCCCCAGCCTGATACCCCAGGTTCTGATAGAGAAGGTGTCCTGCCCTGTCTGCTCCTGGCTGCCCCATGGGAGGGAGCAGGTACCAGAAGAGCCAAACCCCCGACACCCCGGCCAAGGCACTGCCTGTCTCAGTGAGGTGCTTGGGGATCCCTGCGTGCAGGTTGAGGGGCACCTACCTCCCCCCATCCCTGGTTAGTGCTGTCTCCTACTCCCAGTGGGCAGCGACCTCCTACTGAGGTGCTCCCTTCCCTCAGGAACGTCATTGCCCCGCTGATGACCCGGCATGGGAGGCTGTGGTCGAACTTCTGGGGGGGCTCTCAGTGCAGATGGCTACTATGCCCGTTCCGAGGACTACGTGGACATTGTGCAGGGGCGGCGTGTGTGAGTACCTGCAGGGTGGGGGTGGGTGGGGGACACCTTCATCTGGCTTCTGCCTGGGCTTGTGGGGCTCCCTCCCTATTATTCCTGTTCTTGTTACCCTCAAATTCCTGTTGAACCTGAAGCAAGGAAGACTTCAGTTAGACACACAGAAGGACTTCCTGACAAATAGGCCCATGTGTCCAGGGCGGGGGAATCAAATCAGCACAATTGTGCCCCCCTAGCCTGTGACTTCCCTTCTCACACCCAGACTCCAGGCTATGACTCCCCACCACCACCCTGTGACCCCCTCCATCTTCCCCACCACCAGCCTCTGACCCCCACCCGCTTTCTGTCTCTCCCACAGTGGTGTCTGGAATGTGCCCTATATTTCAAACATCTACTTGATCAAGGGCAGTGCCCTGCGGGGTGAGCTGCAGTCCTCAGATCTCTTCCACCACAGCAAGCTGGACCCCGACATGGCCTTCTGTGCCAACATCCGGCAGCAGGTCAGCCAGGAGCGGGCAGCACAGGACGCCCTCTGGATGGGGCAGGCGGGAAGGTGGGCCTCCAGCTCTGACCCTCATGGTGGGCCGCCTTGTCACCGTAGGCCTGGGAGCTCCAGAGATTCTAGCAGGGCATCTCGGAAGCCACCAGGGCCTGCTGGAGGAATGGGGGCCGTCGGGCACGAGGGCTGGTCCTCAGGGGTCTGCAGGGACCATTTTAGCTGACCTGGTTTTTATACCATCTATTTTATTTACATTTTTGGAATAGCCCAAAGAAAACGGAACTTTCCACCTAAAGGTACTCCAAGTGATGTGCCCGAGAGACACCTCACCCTGTCTCTGCGCCCCACCCCATATATTTTTGTGACTTTTTTTTTTTTTTTAAACATGCAGCAAGATGAAGTTTTCCCCTGTGACCAACATTTCAGGACCAGAACACGCTCCTTTTCTTTTACGCATTTTTTCTTTCATTCTGTGTTCAGTCCTCTGGGAAGACTTCCCTGATCACATTCTTAGTGTCAGGCCTGGGCTGGGCCCTGGGGACATAGCGGTGACTGCACTTGGTCTCTGATATTGGGAACTTCAGTTCGGCGGGTGGAGGAGGCTGCACTGTTGCCCGTCTGGGAGCGTGCAGGGGAGGGGTGAGGGCAGGGGAGGGGTGGGGGAGCGCCTCTTCCACCGGGCCTGTCCTCCCCAGGATGTGTTCATGTTCCTGACCAACCGGCACACCCTTGGCCATCTGCTCTCCCTAGACAGCTACCGCACCACCCACCTGCACAACGACCTCTGGGAGGTGTTCAGCAACCCCGAGGTGAGGCCAGGGTGGGCACATAGGGGCTGGGAGCAAAGGGGCCCAGTGATCCTGCAGTCGGAGGGACTTCCCTCTCAGAGTCTTACAACAGCCAGGACCCCTGTAGGCCACCTGCCACCCTCCCTTCACCCCAGGAGGCTATAGGGCAGGATTTGGGTAGGGAGAGAAGGGTGTCCAGAGAGGCAACACCATCTATTGGAGGAGGGACCAGGACTCAAGAGGCCTGGGTTTGTGGCCTAGATCTGCCATCATCTGGGACTTAGTTGAGCCTTCCAGCTTTGGGGACCTTAGTTATCTTAGCTCCAAAATGGGTATACTGTCCCAGCCTGTCTTACCCATGAGGGTGTTGTGATGATCAGAAGGGGAGACAGTTGTAACTGTTTCTAGACGTTGGGAGCTCACAGCTGATGGGTGTAAGCACATGCCTGCACACAGACATATACACACAAGCACACACATGTACATACATGTGCAAACACCACCTCCTATGGGCACACCTGTGCACCCAGACAACACACACGCACCCAGTGGGTGCAGGTGAACACCTGCCTCTGTCAAGCACGTACACCTTCACTCCCACTTTGAGGGGTCTGCTCTGAGCATCCCTGGCAGTTGAGCCAATGGTGAGGACCCTAGCCTGCTTCCCACTTCCCACAGGACTGGAAGGAGAAGTACATCCA
pathogenic
3,082
Variant in gene PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1), located at chromosome 1 position 11970708: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1']
CCTGCCACCATGCCCGACTAATTTTTGTATATTTAGTAGAGATGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGTGCTGGCCACCATGCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCGTCACCCAGGTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCGCCTGAGTAGCTAGGATTACAGGTACCCACCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTTGTGAGGCTGGTCTGAAACTCCTGACCTCCGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCATTTTCTAAGTTGTTTAACAGAAATGTGTGTTCCCAAGTTTAAGGCACCGTTTTTAAAGGCACATGAGACCCTGGACCTGTGTGCCAACCTCTGACCTGGCAACTGGACTAACCTGAAGTTCTGGTTATCTTCCTAATCCACATGCTTTGGTTGCTGAGCTGATCTCCAGAAGCCAGGAACTGGACTAGCCCGTGCATTCTGGGGGCTGGCTGATGCTTGTGCTCCAGTGACAGGGCCAGACCTCGGACCCCAGCTGACTCTGGCCCTGGAACAAGTTTTCAGTGCTCTGTAACAAATGACTGTGGCTCAGAATAACACCCGTGTGTTATCTCCTGGTTTCTGTGGGTCAGGAATCTGGGCCCAGTTTAGCTGGGTCATTGAGGTGTCAGCTGGGGTTGGGGTCTCATCTGAGGCCCAGGATTCCATTCCAAACTCACTTGGTTGTTGCAGAATTCATTCCCCTGCAGCTGTAGAACTTAACTTGCTTCTTCAAGGCCAGCAAGAGACAGAATCTCTCTTCAGTATCCTCCTTTAGCCAGGCGCAGTGGTTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAAGAATAAAATTAGTGGCTGGGTGCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGCGGTGGAGGTTGCAGTGAGCTGAAATGACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCACACACACACAAAAATAAAAATAATAAAAATAAAATTAGTTGGGCGTGATGGTGCGTGCCTGTAGTCCCAGCTACACGGGAGGGTGAGGTGGGAGGATCACTTAGGCCTGGAAGGTTGAGGCTGCAGTGAGCTGAAGTTGCGCCACTGCGCTCTTACCTGTGCAACAGAGGGATACCCTGTCTCAAAAAATAAGGTCTTTCTGCAGATGACTCACCTAGTAGGTCAGGCCCCCCCAGGATAATCTCCCTTTTGATTAACCCAAAGTCAACTGATTAGGAGCCTTAATTGTATCTGCAAAGCCTGTTCAGTTTTGTCATGTAATGTGGTCCGGTCACATTCCCGGGTGTAGGAGAGGGGAGTAGACAGAGCCTGGGGGCCATCCTAGAATTCTGCCTAAACATTCACCTCGGTCACCTCCAGGACAACCGCATCCAGGGTGGCTACGAGAACGTGCCGACTATTGACATCCACATGAACCAGATCGGCTTTGAGCGGGAGTGGCACAAATTCCTGCTGGAGTACATTGCGCCCATGACGGAGAAGCTCTACCCCGGCTACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGC
CCTGCCACCATGCCCGACTAATTTTTGTATATTTAGTAGAGATGGGTTTCACCATTTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGCATGAGCCACCGCACCGGGCACCCCACCTCTCATTTTCTACGTCCTTTTTTTTTTTTTTTTTGGTGAAGTGGAGCCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGTGCAGTGGTGCAGTGGTGCGATCTCGGCTCACTGAAACCTCTGCCTCCTGAGTTCAAGTGATTCTCTTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGTGCTGGCCACCATGCCTAATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCGTCACCCAGGTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCGCCTGAGTAGCTAGGATTACAGGTACCCACCACTACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTTGTGAGGCTGGTCTGAAACTCCTGACCTCCGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTCATTTTCTAAGTTGTTTAACAGAAATGTGTGTTCCCAAGTTTAAGGCACCGTTTTTAAAGGCACATGAGACCCTGGACCTGTGTGCCAACCTCTGACCTGGCAACTGGACTAACCTGAAGTTCTGGTTATCTTCCTAATCCACATGCTTTGGTTGCTGAGCTGATCTCCAGAAGCCAGGAACTGGACTAGCCCGTGCATTCTGGGGGCTGGCTGATGCTTGTGCTCCAGTGACAGGGCCAGACCTCGGACCCCAGCTGACTCTGGCCCTGGAACAAGTTTTCAGTGCTCTGTAACAAATGACTGTGGCTCAGAATAACACCCGTGTGTTATCTCCTGGTTTCTGTGGGTCAGGAATCTGGGCCCAGTTTAGCTGGGTCATTGAGGTGTCAGCTGGGGTTGGGGTCTCATCTGAGGCCCAGGATTCCATTCCAAACTCACTTGGTTGTTGCAGAATTCATTCCCCTGCAGCTGTAGAACTTAACTTGCTTCTTCAAGGCCAGCAAGAGACAGAATCTCTCTTCAGTATCCTCCTTTAGCCAGGCGCAGTGGTTCATGCCTATAATCCCAACACTTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGTCCAGGGGTTTAAGACCAGCCTGGGCAACATAGTGAGACCTCATCTCTACAAAGAATAAAATTAGTGGCTGGGTGCATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCCAGGCATGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTCAGGCGGTGGAGGTTGCAGTGAGCTGAAATGACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCACACACACACAAAAATAAAAATAATAAAAATAAAATTAGTTGGGCGTGATGGTGCGTGCCTGTAGTCCCAGCTACACGGGAGGGTGAGGTGGGAGGATCACTTAGGCCTGGAAGGTTGAGGCTGCAGTGAGCTGAAGTTGCGCCACTGCGCTCTTACCTGTGCAACAGAGGGATACCCTGTCTCAAAAAATAAGGTCTTTCTGCAGATGACTCACCTAGTAGGTCAGGCCCCCCCAGGATAATCTCCCTTTTGATTAACCCAAAGTCAACTGATTAGGAGCCTTAATTGTATCTGCAAAGCCTGTTCAGTTTTGTCATGTAATGTGGTCCGGTCACATTCCCGGGTGTAGGAGAGGGGAGTAGACAGAGCCTGGGGGCCATCCTAGAATTCTGCCTAAACATTCACCTCGGTCACCTCCAGGACAACCGCATCCAGGGTGGCTACGAGAACGTGCCGACTTTGACATCCACATGAACCAGATCGGCTTTGAGCGGGAGTGGCACAAATTCCTGCTGGAGTACATTGCGCCCATGACGGAGAAGCTCTACCCCGGCTACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGCN
pathogenic
3,135
Evaluate if the mutation on chromosome 1 at position 11972853 in PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) is benign or pathogenic. Disease name(s) if pathogenic?
benign
TACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGCCCCTGTAAGCTGACCTGCAGCAGGCCAGACCAGGCCCCATGTGTGCACCCTCCTCTCCTGGCCTTTGTGTCCTCCTTAACTAACACGGGCTCTCTTGTCCCCCTGCCTTGGTACAGGCCCAGTTTGACCTGGCCTTTGTCGTCCGCTACAAGCCTGATGAGCAGCCCTCACTGATGCCACACCATGATGCCTCCACCTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAGGTGAGCAGGAGCCAGCCGGGGTCAAGGGGCCGGCAATGGGGATGAGGAGGGCTAGCTGAGGAGAGGCTTCAGGGTGGTTGAGGCAGAGGGGCCCCAGGTAACCAGTGCCAGAGAACCAGAAAAAAAAGGATGTGGGTCTGTGGGAGGGCTTCCTGGAAGGGTTCACAGTCTAGCAGGAGGAGGGGCCAGGCTCTTAAGCTACTATTTTAAGAGATTTTTGGGCTCGGCATGGTGGCTGATGCCTGCAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATTTCCACTAAAAATAGAAAAATTAGCTGGGCGTGGTAGCACACACCTGTAATCTTAGCTACCCAGAAGGCTGAGGCATGAGAATCTCTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCCAAAAAAAACAAAAAGAGGTTTTTTGAACTTAGCCCTGGGCTGGGTGCTGTGGAGAACACTCATAAAAACAGCTATAATCCTTTTTTTTTTCTTTTTCGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCACAGTTCACTGCAGCCTCAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGCCCCCCCAAGTAGTTGGGACCACAGGCGTGTGCCACCATGGCCAGCTAATTTTTTTTCTTGCTTTTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGAGCTATAATTTTTTGAGAGCTTACAACAAACATATCAGGCATCCCTAATCCAAGGATTCTCAACCAGGAGCAACTGTGGCCTGCAAGGGACATTGGCAGTACCTGGAGACATAATTGGTTTTTACAACTATGAGGGGCTACTGGCATCTAGTGGGTAGAAGTCAGAGATGCCCGGGACAGCCTTCCACAGCAAAGTGTCTATAGTGGTGAGGTTGGGAAGCTTGATCCTCAGCTCTCAATTGTAACATCTCATTTAATTCTCACTATCCTGTTCTGTTTAACCCTCATTTTACAGAAGGGGAAACTGAAGCTCAGGTTGGTCACAGTTAGTAAAGAGTGGAGGTGATGTCTGCCCAGGGCTGCCTGACTCCAAGGACAGAGCTCTTGATCACTTACTCTTTGGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCCTCCTGGGTTCAAGTGATTCTGTCTCAGCTTCCCGAATAGCTGGGATTACAGGCGTGCGCTGCTACACCCAGCTGGTTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCATGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACTCCTGGCCACTACTCTTCATTTAGTGTCTTCCTTAGCAGCGCTTGTGGCTGTCACTCCAGAAGGCATCCCCAGGCAGGCAGTGCTGAGGGCCACTTGGCCATGACAGGAGATCATGACGGGAGAACAGACGGGCAGGGGGGCGGTGGGGAAAGGCCACTGATGCTTTCTGTCTCCCAGGGCGGGGGCTGTCGGTTCCTGCGCTACAACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGACTCACGCATTACCATGAGGGGCTCCCCACCACCAGGGGCACCCGCTACATCGCAGTCTCCTTCGTCGATCCCTAATTGGCCAGGCCTGACCCTCTTGGACCTTTCTTCTTTGCCGACAACCACTGCCCAGCAGCCTCTGGGACCTCGGGGTCCCAGGGAACCCAGTC
TACTACACCAGGGTGGGCAAGCCTGGGGCATAGCCAGGATGCGGGGACAGTTGGGTGGGGTGTCAGTGGAGTGGCTGGGACTGGTGGGGGTAGGGTGGGAGGTGGAGAAACTGGGAGGGGCCGAGGTGGAGTGAGGGTGTGGGGAGCGTGGGAGGGGCAAGGGTGGGGCATGAGGTAGAGGGACTGAGGGGTGGGGATGGGGTTGGGAAGAGCAGGGGTGGGGTGGGAAGTGGTAGAGAAGCTGGGAGGGGTGGAGAGGAGTAGGGAGCCTGGGAGGGGCAGGGGTGAGTGGGAGTGGAAAGCCTAGAGGGGCGGGGGGGCAGGGGTGAGGGAGTGGAGAGACTGGAAGGGGCAGGAGTTGGTGGGGAGGTCGAGGCCAGTGTGGGGCAGGGGGATGGGGTGGGAGGGGTAGGGTGGAGTGGGGGGCTTGGGTGGAAGGGCCAGGGGTGGGTGGGGGCTGGAGAGTCTGGCAAGGGGAGGGGCTGGGGAAGGGGTTGGGTTGGAGTACGGGTGGAGGAACATCCCAGCTTATGGGAGAGGCCTGGATATTTGGTCCCCAGGCAGGAGTGAGGTCTCACCGCACACACCCCCTCCATCTAGTAGCGTGTGGGAAGACAGGGTGCTGGGCTGGGACTCTAGGGCCGGCTAGTTGGCCTCTAGCCTGAGCTGGAGTCTCACTCAGCCTCATGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTTGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAATTCCTGACCTCAAGTAATCCGCCCACCTCTGCCTCCAAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGACCTCAGCTCTTTTGAATCTTTCTTCCTTGTCATTAACCCTGCCTCAGTGGCTCCTATACCAGCCCACCAAAAAAGCACCCCTGCCCACCTTAGCTGGCCAGCGTGCCCACTCCCTCCCTAGCCACAAGCCTGTGCCCCACGCCTGGGCCCTGCTTCGTCCGAAGCAGCCTTCTTCCAATAGTGAGGAAAACCCTGAACTCCTGTTACTGACAGTTGTCATTCATCCCTTGAATGCTTACTGTGGTTCCCCGGAAACAATTACCTGGCTGGCCTCGGTTAATTCTCACAATTCTTTCCAGTGCTATCACTCATGTGTCTGTCCACTGCTACCTTGGCTTTCTCCAAGGTACTTTCTCCAAGACTCAGTTCCTTCCTTGGTCTCTGGTTTCTCCAGATACCTGCCCATGGCGTGCCTGGGTCCTGCCTCAGGGAATCCAGCCTGGATAGTTGCCAGAAAGGGTTGTGAGGATTGGATGCCCCCCTTTGTCTTTGTCTTTTCATTCATTCCTTCGTTCCTTTCTTCCCTTCCTTCCTTCCTTCCTCTCTCTCTCTCTCTCTCTTTCTTTCTCTCTCTCTTTCTCTTTCTCTGTCTCTTTTTCTTTCTTTTCTTTCGCACTTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTACAATCTCCGCCTCCCAGATTCAAGCGATTCTCCGGCCTCAGCCTCCCAAGTAGCTGCGATTACAGACGCCCACCACCATGTCTGGCTAATTTTTTGTAATTTCAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTACCATGTCCGGCCTCCTTCCCTTTCATTTCTTCTCTTCCCTTTCATTTCTTCTCTTCCCTTTTCCTCCCTTCCTCCCTCCCTCCCTTCCTTTCTTCCTTCCCCTCTGTTCTCTTCCTTCCCTCCCTCTCTCCCCTCTGTCCATACATTTTTGTTGAGAACCTTTTCTGTGCCAGGTAGTTGCAGGCACTCGAGCATAGAGCCCCATGTAGACCTGGCCCCTGTAAGCTGACCTGCAGCAGGCCAGACCAGGCCCCATGTGTGCACCCTCCTCTCCTGGCCTTTGTGTCCTCCTTAACTAACACGGGCTCTCTTGTCCCCCCTGCCTTGGTACAGGCCCAGTTTGACCTGGCCTTTGTCGTCCGCTACAAGCCTGATGAGCAGCCCTCACTGATGCCACACCATGATGCCTCCACCTTCACCATCAACATCGCCCTGAACCGAGTCGGGGTGGATTACGAGGTGAGCAGGAGCCAGCCGGGGTCAAGGGGCCGGCAATGGGGATGAGGAGGGCTAGCTGAGGAGAGGCTTCAGGGTGGTTGAGGCAGAGGGGCCCCAGGTAACCAGTGCCAGAGAACCAGAAAAAAAAGGATGTGGGTCTGTGGGAGGGCTTCCTGGAAGGGTTCACAGTCTAGCAGGAGGAGGGGCCAGGCTCTTAAGCTACTATTTTAAGAGATTTTTGGGCTCGGCATGGTGGCTGATGCCTGCAATCCCAGCAGTTTGGGAGGCCAAGGCAGGCAGATCACTTGGGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATTTCCACTAAAAATAGAAAAATTAGCTGGGCGTGGTAGCACACACCTGTAATCTTAGCTACCCAGAAGGCTGAGGCATGAGAATCTCTTGAACCCAAGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCCAAAAAAAACAAAAAGAGGTTTTTTGAACTTAGCCCTGGGCTGGGTGCTGTGGAGAACACTCATAAAAACAGCTATAATCCTTTTTTTTTTCTTTTTCGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGTAGTGGCATGATCACAGTTCACTGCAGCCTCAACCTCCTGGGCCCAAGCAATCCTCCCACCTCAGCCCCCCCAAGTAGTTGGGACCACAGGCGTGTGCCACCATGGCCAGCTAATTTTTTTTCTTGCTTTTAGAGATGGGGTTTCACTATGTTGCCCAGGCTGGAGCTATAATTTTTTGAGAGCTTACAACAAACATATCAGGCATCCCTAATCCAAGGATTCTCAACCAGGAGCAACTGTGGCCTGCAAGGGACATTGGCAGTACCTGGAGACATAATTGGTTTTTACAACTATGAGGGGCTACTGGCATCTAGTGGGTAGAAGTCAGAGATGCCCGGGACAGCCTTCCACAGCAAAGTGTCTATAGTGGTGAGGTTGGGAAGCTTGATCCTCAGCTCTCAATTGTAACATCTCATTTAATTCTCACTATCCTGTTCTGTTTAACCCTCATTTTACAGAAGGGGAAACTGAAGCTCAGGTTGGTCACAGTTAGTAAAGAGTGGAGGTGATGTCTGCCCAGGGCTGCCTGACTCCAAGGACAGAGCTCTTGATCACTTACTCTTTGGGTTTTTTTTTTTTTGAGACAGTCTCATTCTGTTGCCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCCTCCTGGGTTCAAGTGATTCTGTCTCAGCTTCCCGAATAGCTGGGATTACAGGCGTGCGCTGCTACACCCAGCTGGTTTTTGTATTTTTAGTAGAGATGGGGTCTCACCATGTTGGCCATGCTGGTCTTGAACTCCTGACCTCAGGTGGTCCACCCGCCTTGGCCTGCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACTCCTGGCCACTACTCTTCATTTAGTGTCTTCCTTAGCAGCGCTTGTGGCTGTCACTCCAGAAGGCATCCCCAGGCAGGCAGTGCTGAGGGCCACTTGGCCATGACAGGAGATCATGACGGGAGAACAGACGGGCAGGGGGGCGGTGGGGAAAGGCCACTGATGCTTTCTGTCTCCCAGGGCGGGGGCTGTCGGTTCCTGCGCTACAACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGACTCACGCATTACCATGAGGGGCTCCCCACCACCAGGGGCACCCGCTACATCGCAGTCTCCTTCGTCGATCCCTAATTGGCCAGGCCTGACCCTCTTGGACCTTTCTTCTTTGCCGACAACCACTGCCCAGCAGCCTCTGGGACCTCGGGGTCCCAGGGAACCCAGT
benign
3,146
Is the genetic mutation found on chromosome 1 at position 11996247, within the gene MFN2 (mitofusin 2), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Charcot-Marie-Tooth_disease_type_2']
TATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGGTTGCAGTGAGTCAAGATCGCGCCACTGCACTCCAGCCTAGGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAATCTAATACAAGAAAAAAGGCATCTAGACAGATTGTATGCTAGGCACACAGTGGTAGCCTGGGGAATAGGCACTGTGCCTAGAGTCTTGACCCTGATGAACTGTAACCTCAGGTGTGGTCCTCTACTCCTCTGAACTATCATTTCTTCATCCTCACCTGGGAGGTATGACCCCCTACTTAGGTGAGCTAGTGGGCTTCCTGTCTCACTGGGTGCAGGTAAGGTCATTGTAGTTCTGCTCTAGTGATATGGCTGAGAAACTTCAACTCAGAATGAGAAACACTGTGTTTAGCACAGGTTGAAAGCTCTGAGACTCAGAGCAGATGAGTCTGCTGAGCAGAGCTATTCTCAAGAAGCAGAAATGGTGGGGTGCAGTGGTTCACACCTGTAATCTCAGCACTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATGGCAAGACCCCATCTCTACCAAAAATTTAAAAATTAGCTGGGCGTGGTCGCAGCTATAGTCTATATATAGGTGGTACCTATAGTCTAAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGCCCTGATGGTCGAGGCTGCAGTGAGCTATATTCATGCCACACGCTACTGCACTCCAGCTTGGGCGAGAAAGCAAAATCCCATATCAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAATAACAATAAAAAAAAAAAGAATGAGAAAGTAACCTTCCCTTTAGCCTGGCAGTTGTCAGCTGGGACTCACAAGGTGGAGCTTCATGTGTAAGGAGGAGCGTGATGGGAGAAAAGCAGCGAAACATGCCCTGTGTAGGAAACACTGGGGTCATTTAGACTGAGGAAGACACTCTGGGGGTTAGTCGGTGTTTCAGGTAGGCCTGAATTAAACTTTGGAGACAGACAGACAGTCTCTATAAGTGTTGCTGAGGGTGGCTGTGTGATTCAAGGGGCAGACAGCACGCAGTGAGCCTCTTGTAGATTGATCTGAAATGATGAACCAGGGGCATGTCAGAGGTTTGGGCCTGGGGGTGTTTATTCATTTTAATAAACAGTGCCTACTCTTTGTCTCTCAGCACTGTCTGGGCACTGGCAACATTGCACTGAATAGGGCTTTGGCCTTCCAGGCTGGTATCTGCGTTGTGAAAGTAATTCAGGTCAGATACTGGTGGCTTTGCTGACAGCTGTTACTTCCTTCTAGGACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAAGTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGTAGAGGGCACAGATGGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAGGTGAGGGTGCCAGGCTGGCTGTCAGCCCTGTGCCTGCTGGGGGAGCAAGTCCTCCGTTGTGACACGGCTGACCTCACCTCTAGGGAGGGGGCAGCACCACCCTGTGGAGGTGAATGGGAGACCCTATTTTAGATGAACTTTTTGAAGGATGTAAGAGCTTTTGGGGGCTGGCGGAGGTGGTTTTCAGAAACGTGGATCACCAAGAATGAGGACCCTGCTGTTCCTCATACAGCTCTGAGTGGCCACTGACCTCTCTTCACTAATTAAGGAAGACAGTATGTGCTGTGTTCTTCCTTGGGATATTGCCAGAGAGGAATTCCTGCATTTGCTGTGTGTCTCTGACCTATCAGTCAGGGACCGACACTCTGAGTTTTCTGAGAGGCAGCTGCATTCTTGTTTGGGGCCAGATGCTCAATTTGCTTCATAAAGAATCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAAT
TATGTAGGCAGTTTTCTTTGCTTTGACATGGAAGCAGTTTTAACACTGGCCCTTGTGAAGCCACAATGTACCTAAAGTACTAGGCCAAACATTTATAACTTGTATAATGACCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGTGGAGGTTGCAGTGAGTCAAGATCGCGCCACTGCACTCCAGCCTAGGTGACGGAGTGAGACTCCGTCTCAAAAAAAAAAAATCTAATACAAGAAAAAAGGCATCTAGACAGATTGTATGCTAGGCACACAGTGGTAGCCTGGGGAATAGGCACTGTGCCTAGAGTCTTGACCCTGATGAACTGTAACCTCAGGTGTGGTCCTCTACTCCTCTGAACTATCATTTCTTCATCCTCACCTGGGAGGTATGACCCCCTACTTAGGTGAGCTAGTGGGCTTCCTGTCTCACTGGGTGCAGGTAAGGTCATTGTAGTTCTGCTCTAGTGATATGGCTGAGAAACTTCAACTCAGAATGAGAAACACTGTGTTTAGCACAGGTTGAAAGCTCTGAGACTCAGAGCAGATGAGTCTGCTGAGCAGAGCTATTCTCAAGAAGCAGAAATGGTGGGGTGCAGTGGTTCACACCTGTAATCTCAGCACTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCAGGAGTTTGAGACCAGCCTGAGCAACATGGCAAGACCCCATCTCTACCAAAAATTTAAAAATTAGCTGGGCGTGGTCGCAGCTATAGTCTATATATAGGTGGTACCTATAGTCTAAGCTACTTGGGAGGCTGAGGTGGGAGGATCATTGAGCCCTGATGGTCGAGGCTGCAGTGAGCTATATTCATGCCACACGCTACTGCACTCCAGCTTGGGCGAGAAAGCAAAATCCCATATCAAAAAAAACAAACAACAACAACAACAACAAAAAACCCCACCAGAATACATGAAAGGGGTGTGATAGGTAAGAATGAGAAAGTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAAGCAGGCAAATCACCTGAGGTCAGGAGTTCGCGACCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAAATACAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCGATGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAATAACAATAAAAAAAAAAAGAATGAGAAAGTAACCTTCCCTTTAGCCTGGCAGTTGTCAGCTGGGACTCACAAGGTGGAGCTTCATGTGTAAGGAGGAGCGTGATGGGAGAAAAGCAGCGAAACATGCCCTGTGTAGGAAACACTGGGGTCATTTAGACTGAGGAAGACACTCTGGGGGTTAGTCGGTGTTTCAGGTAGGCCTGAATTAAACTTTGGAGACAGACAGACAGTCTCTATAAGTGTTGCTGAGGGTGGCTGTGTGATTCAAGGGGCAGACAGCACGCAGTGAGCCTCTTGTAGATTGATCTGAAATGATGAACCAGGGGCATGTCAGAGGTTTGGGCCTGGGGGTGTTTATTCATTTTAATAAACAGTGCCTACTCTTTGTCTCTCAGCACTGTCTGGGCACTGGCAACATTGCACTGAATAGGGCTTTGGCCTTCCAGGCTGGTATCTGCGTTGTGAAAGTAATTCAGGTCAGATACTGGTGGCTTTGCTGACAGCTGTTACTTCCTTCTAGGACGAGCAATGGGAAGAGCACCGTGATCAATGCCATGCTCTGGGACAAAGTTCTGCCCTCTGGGATTGGCCACACCACCAATTGCTTCCTGCGGGGTAGAGGGCACAGATGGCCATGAGGCCTTTCTCCTTACCGAGGGCTCAGAGGAAAAGAGGAGTGCCAAGGTGAGGGTGCCAGGCTGGCTGTCAGCCCTGTGCCTGCTGGGGGAGCAAGTCCTCCGTTGTGACACGGCTGACCTCACCTCTAGGGAGGGGGCAGCACCACCCTGTGGAGGTGAATGGGAGACCCTATTTTAGATGAACTTTTTGAAGGATGTAAGAGCTTTTGGGGGCTGGCGGAGGTGGTTTTCAGAAACGTGGATCACCAAGAATGAGGACCCTGCTGTTCCTCATACAGCTCTGAGTGGCCACTGACCTCTCTTCACTAATTAAGGAAGACAGTATGTGCTGTGTTCTTCCTTGGGATATTGCCAGAGAGGAATTCCTGCATTTGCTGTGTGTCTCTGACCTATCAGTCAGGGACCGACACTCTGAGTTTTCTGAGAGGCAGCTGCATTCTTGTTTGGGGCCAGATGCTCAATTTGCTTCATAAAGAATCAATTGGTCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAA
pathogenic
3,210
Considering the genetic mutation at chromosome 1, position 11998841, impacting MFN2 (mitofusin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Inborn_genetic_diseases']
TTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAAGCTGAGGCGGGCAGATCAGGAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCCGGGCGACAGAGCAAGACTCTATATCCAAAAACAAAACAAAACAAAACAAAACACTCATTTCCAGGCAATCTGGAAGGATAGGAAATGGGAAGTAAAATCCGTTAATGAGGGCCAGGCCTGATTTCTCTCCCGTCCCTGGCTTTCTCCTCCATGACCTGCCTGCCTCACAAGTCCCAGGTCTGTTCTCAGCAGGAAGAATAGGGCTCCTGCTCTGCCTGATGATTTGGTTTACCCCTGTCACCTTTAGCCCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCTGATGTGTTTGTGCTGGTGGCCAACTCAGAGTCCACCCTGATGCAGACGGTAACTCCTCCTCTGCCTTCTCCCAAGCTCCCAGCACCCCCTGGGCAGGCAGCTGATGGGGCCTTGGCTGTCAAGCTCCTGCTCCACCGAGGTCTTACCCTTTATCTAGGAAAAGCACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGGGATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAGGTTCGTGCTTCTGTTTGGCAGTTTGGGGAATGCAACCCCGAGGGAGCACTGCCTGCCACTGGGGCCACTTCCTGCACCCCTGGATCTAGTGACTTCCCTGAATTAATTTTATTGCCAAAGAATTCTCCAAATACTCTTCTGTGGTATCTTCTGGTGGTCTTTCCCCTCTCCCATCCACTTTGCTGGATGCACCCCCTCTTCAAGCCACTCTCCCCTAGGCCTAAAAAGGATCCCTGCTGCATTAGTGCATCTTCAGTGCCGGTGCTCAGTTTGGTTTCTGAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATAT
TTTGGGAGGCCGAGGTGGATGGATCATTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGTAGGCACCTGTAATCCCAGCTAGTCGCGAGGCTGAGGCAGGAGGACTGCTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCACGCCACTGTACTCCAAACCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGAATCAATCAGTGCAGAACAGATGACTTTAGGGTGATATCCGGGAAAGAAGCTCAAAAGAGCAGTGAAGAAAGTGGGTTCTTATTGACAACTCCCAGCTGTTAACTTTTTATATGTGGAAGAAGAAAGGGTAGCAGATGGGCAGCATTCCCAGCCACTGTGCTGTGATGCAGCGGCACAGGAAATCTCCTGGCCTGGTGGTTCCTCCTCAGCCTCTTTCTTTCCTTCCTCTGCCATCAGACTGTGAACCAGCTGGCCCATGCCCTCCACCAGGACAAGCAGCTCCATGCCGGCAGCCTAGTGAGTGTGATGTGGCCCAACTCTAAGTGCCCACTTCTGAAGGATGACCTCGTTTTGATGGACAGGTAAGAGGGAGGTGCCCTCCTAGGAGGTCCAAACTGGAAGGCACCAGGTTTCCATTTCTGGATAATCTAGGCCAGGGTCCCTGGGCCCCATCCTTGCTCTGCTTAAGTATTACTACCTTTCAGATGGGCTCAACCAAATCCTCTGGCCTCTTGGCTTTCCTCTGGAGTCTGGTTACTATACCTATTTATCAGTACCCTGCAGATGTCCCAGGGATGGTCTGTAAAAGATAGGAGGGATGCTCAAAAGTTGGTGGGGGAGGTTCTCAATCTCAGCCCAGTGCCAGCATGTGTACTGGGGGTGGGGAGTTGTGGCGGAGTCAGAGGTGTATTTTATTTCCCTTGAAGAAACACTTTGCCTTGGCTTGGTGGACTGGTTATAACTATACCAACATGTACAGTATTGTAGTGTTTATCTGGACTCACATCAAGTCACAACTTCACCTTAATTGTATATCATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAGTCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTGGCTAAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTGCTGACCTCATGATCCGCCCACCTTAGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGTGCCCCGCCTGGTATATCATCTTTAAAGTAGAATTACAAGTAATTCTGTTTTTATAAAAGCAATAGATATATGTGTTTAAAAACACTCATTTCTGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAAGCTGAGGCGGGCAGATCAGGAGGTCAAGAGATCGAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAGTGCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGTGCCATTGCACTCCAGCCCGGGCGACAGAGCAAGACTCTATATCCAAAAACAAAACAAAACAAAACAAAACACTCATTTCCAGGCAATCTGGAAGGATAGGAAATGGGAAGTAAAATCCGTTAATGAGGGCCAGGCCTGATTTCTCTCCCGTCCCTGGCTTTCTCCTCCATGACCTGCCTGCCTCACAAGTCCCAGGTCTGTTCTCAGCAGGAAGAATAGGGCTCCTGCTCTGCCTGATGATTTGGTTTACCCCTGTCACCTTTAGCCCTGGTATTGATGTCACCACAGAGCTGGACAGCTGGATTGACAAGTTTTGTCTGGATGCTGATGTGTTTGTGCCAACTCAGAGTCCACCCTGATGCAGACGGTAACTCCTCCTCTGCCTTCTCCCAAGCTCCCAGCACCCCCTGGGCAGGCAGCTGATGGGGCCTTGGCTGTCAAGCTCCTGCTCCACCGAGGTCTTACCCTTTATCTAGGAAAAGCACTTCTTCCACAAGGTGAGTGAGCGTCTCTCCCGGCCAAACATCTTCATCCTGAACAACCGCTGGGATGCATCTGCCTCAGAGCCCGAGTACATGGAGGAGGTTCGTGCTTCTGTTTGGCAGTTTGGGGAATGCAACCCCGAGGGAGCACTGCCTGCCACTGGGGCCACTTCCTGCACCCCTGGATCTAGTGACTTCCCTGAATTAATTTTATTGCCAAAGAATTCTCCAAATACTCTTCTGTGGTATCTTCTGGTGGTCTTTCCCCTCTCCCATCCACTTTGCTGGATGCACCCCCTCTTCAAGCCACTCTCCCCTAGGCCTAAAAAGGATCCCTGCTGCATTAGTGCATCTTCAGTGCCGGTGCTCAGTTTGGTTTCTGAGGAATTAATACAGAACAGGCTCAGCTCTAGGGAGGCCTCTGGGAAAGAGGCTGGAAAGAGGAATGGAGAATAACTGGTTCTTACTGGTGACTTACAACTCTTAGCTATTTACTTATTTATTTAGAGACTGGGTTATGAGGCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTTGTCATGTTGCCCACGCTGGTTTTGAACTCCTGGGCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCTGGCCTCACAACTCTTTAAATATGTGAAATGAAAGACAAAAGGGTAACAAACGGCATGGTGGTGCACACCTATAGGCTGAGAGAGGATCCCTTGAGAGTAGGAATTTGAAACCACCTTGGGCGACGTAGCAAAACGCCATCTCCAAAAAAATAAAGGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACGTGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGTGTGATGGTGGCAGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTAAGGCAGGAGAACGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCTGAGATTGTGCCACTGTACTCCAGCCTGGGCAAGAGAGTGAGATTCCGTCTCACAAAAAATAATTAAACAAATAAAGGGTAATAAGATTGATAATATGGCAATATGGGATGATAAAACATGCAGTTGCAGTCAGTAGGCCAGAGTCCAAATTATTTATTTTTTTCGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAAGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACGGGCGTGAGCCACTGTGCCCGCTTGTGACTGACACTAGGCAGTGTGACTTTGTTAGCTTCCTTGACCCTTCTGGTAATCCAATTTCCTGGCCAGTGTGATGGTGTGATAAATAGACTTGTTGAGAGGATGAAATCTGTCAAAAACACCTGACACGTGGTAGGTGTCTACAAGAAGCTATTGTCACATTTTATCGGTAGAACCCCAGGATGTCAGAGCCAGGAGGGATGTTCTAGTGATGCCCACTCCTTTTATAAACAATGCCCCAGGAGGACACAGCTTGTCAGAGTATAGGTCCCAGATTTAGGTTTCTTGACCTCAGGGTTCCTTTCCTGCCAGGGCACCAAAATGAGGCACTATATAGGCTTAACAAGAGGCAGTCTAGGGCACGTTTAAGCATTTCTGCTTGTATATGCATAAAATATNNNNNNN
pathogenic
3,234
Mutation at chromosome 1, position 12004934, within MFN2 (mitofusin 2): benign or pathogenic? If pathogenic, indicate the disease(s).
benign
GAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGCATTCTGGGAAGATTTGGACTCCGAGTAGAGTCCAGAAGAAAGCAGACCTCCTCCTCTTAGGGACTTCTCAGCCTTTCAGAAGAAAGTTGTGGCCCTGTTTCAAGAATACAGAGCTGCCGTTTGGGTTCCATTGTCGGGTTGTGTGATGCTGGGCATGTTCCCTTTCCTCTGGACCTCCACAGATCATGTGGGCGTTTGATCAGCCAGTTTCCCAGACCCTCTCACTTCAGAGGCTTTAATTCCATAGAGGAGCTGAGGAGGCTGCTGGTTTGAGAGGAAGGATGTGCCATCTGCTAGGATCTCTCCTGGTGCTGCAGGAGTGAACTTTGGTCTTCCTTGATACTTAACAGTGTGCTTCCTTTTGCTGTAGGTGTCGACTGCAATGGCCGAGGAGATCAGGCGCCTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAGGTTTATAAGAATGTGAGTCATGGAGCAACAGGTCCTCTTGGCAGGAGGCCCCCAAAAGTGATTCAACCCCTGTTGGTCTGGGTCAGGGCCCCCCAGCAGTGACAGTAGAAGCCACAGAGACAAGGCCCAGGCTTCCGTCAGCCTTCTGGGGTCACCTGGTGGATGTGGCCTGAAGGGAATTTTGATGGACATGCTTCTCTTAACTTCCCTCTTCTGGTGGCAGGAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGACCGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAGGTTAGTGCCCATGGGGAACTGGGCAGCTGTGGCCCTGGGCTGCCCAAAGATCAGATGCGGAGGCCAAGCTAAAGAAATCAGGACTTTCCTTATCTGTCACTTTTCATGATGATTCAACTCGATACCTTCAGGTTCTGGGTACATGTTCTGAACTCATTCTTGTTTGCTTTTTGAGACAGAGTCGCACTCCGTAACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCACCGAGGTTCAAGCGATTCTTCTGCTCCAGCGTCCCGAGTAGCTGCGACTACAGGCGTGACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTATCTGCCTTGGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACCGGCCCTGGCCTTGTGAACTCATTCTGTACACAGGGTTGGGGAGCCCATCTTGTTCTACTACATGGGTCTACCCTAGGCTGAGAATTGGGCCTGCTCCTTTAAGTCCACGTGAGGCATAAGTGTTAGCAGTATGGCATCTGAGTCCACACTTGCCTGGGAGAGCTGGCCTCAAGTGAGGCATGCTCAGTCTCACGGGCCAACTTGACTGGGGTGTGGTTCCCAGGCAAAGCTGTTCAGCATCCCTGGCAGTAGCTGGTAGAGCCCTGTCTCCAAGGCTTGGTGCCGCTGTGGTGCAGGGCTGAGCTGATAAGCTTTTCCTCCATTTCTCTTCCTGACAGATGGCTTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAGTGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAGAACAGCCGTCGGGCCTTGATGGGCTACAATGACCAGGCAAGCAAAGTTCCTCACCTCAAGGGCATTGTGGGGGGTCAGTCTGTACCCTGCCTCCAGACACGGGAACCATTCTAAAACGGGGGTTCCCTAAGGTCAGCAGCTGTGGTGGTGTGCCCCACCACACAGTACACCACAGACAGAATTTTTGCTACTGATTGACCTGGATTTGTTCTAAGCAGTGATATTTGTGAAATGACAGATGCTAGTATTTTTCTCTAATACACATTAAAGTAAGTATGTAACTATTAAAAATAGACGACTTTAAAAATAACCACCTACATACGACTATTTTAAAGTTCAGATTTTAAAAACATTCATCTCTAAACCACTTGAGTTGTCACATGTACTGCCCTCTGTACACATCCCACACTCGGGGAAGCTGCCAGGCGGGTCAGGATGGCTCCTGCTCACATTTTGCACGTCCCGTGGTGCTCACCTGAGGGTCTCCTCTGCTACATCTGAAGCTAGTTGTCCCCTTTTTGCCTTTTGGAAATTGAAGAGCCACTCTGTGTCCCTGTTCCCCAGACTAGGGCAACACTGAGGGTTCACGTGAATGAGAGACTCAATACGTCCCCCTCACCCCTCTCATGTTTCTCTCCTCAGGTCCAGCGTCCCATCCCTCTGACGCCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATGGTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTTGTTGGAGGAGTGGTCAGTGACCAGTTCTGCTCGGGAAGGTGGGGGCGGAGGGCAGGTGGGCGGGGCCTGAGGGCTAGGTTCCTGCTGTGGCCCCTGCATTGGGCCACACTCCACAGTCCACTGCATACTTTCTCCTCTGTGATTGCATGGGGAGCGCTTACTCCCTCACCAAGTTTCCCTCACTTCCTGCTGGACATGGTCCCAGACCTTCTGGCCTCGGTGGGATCAAAGGAGACATTGAAAGAGGAACTCAGAGTAGAAACATGAAGGCTCCTTGGCTGGGGCCCTTCAGATGGCCCT
GAGGAATATGTCAGGTTTTTACATGCTTCAGATGTACAGATGTGGCATCACACTGTCTGTCACTGTACCTGGCTTTGCTTTCTCAACATCGTTTTTCCCTCTATCCTTGTTAGTATGTGTAGTTTGTTTATGAATCGGAACTGCTGTAGTATATTCCATTGTGAATATGCCTCATTTTCCTATGGATGGAATTTTAGATTTTTTTTTTGCTATTGGAAACCCTACTGCAGTGGACATTTGTTCATGTGTCCCCTTGTGCACCTTTTTAAGAGTCTTCCTGGGGTGAGTTCCTAGGGGTGTGGCAATTCTGTTTTAGGGTACACGCGTTTCCAGTTTTAGTCAGTTTTCTTGATGCTCTTCAGAACAGCCGTACCCATTCATTGCATGACCAGTACTGTCCATAGGCCTTCCATTTCATCAGCCCTCACCAGAACTTCAGACCTGGTCATTTTTGCCAGGCCTTGGTAGAAAATAGTGCCTTTAAAAATTTCATTTACAACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGATGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTGCTAAAAATACAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAAGTGGAGGTTGCAGTGAGTGGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAATCATTTCTGTGATTACTAGTGAGGTTGAGCTTTTTTCCCTATATTAATTGGCAGAATTTGTTTAAACCCCCTTAAAGCGCCCTCCCTGTTTTGTGCCCACCACCTGACCCACATCGAAGACTGAAGAGTGCATGGTTGGCTGCAGGGTCCTCTTCTTACCTGGGAAGGGGAAGGCCATGCCCCTGGGTGCGTGTGTGCAGCCCTGCCAGGCAAGATAGCGGGCAGGGCGGCGTGGGATTTCTGGCATCCCCTCTTGCTCCTCTGCTTAGTCAGACAGGAACATGGATTTCTCACCAGTACTCTGCTTTCAGGGTTTACTGCGAGGAAATGCGTGAAGAGCGGCAAGACCGACTGAAATTTATTGACAAACAGCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGCAGATTACGGAGGAAGTGGAGAGGCAGGTGAGAAATGAGGAGGAGGCATTCTGGGAAGATTTGGACTCCGAGTAGAGTCCAGAAGAAAGCAGACCTCCTCCTCTTAGGGACTTCTCAGCCTTTCAGAAGAAAGTTGTGGCCCTGTTTCAAGAATACAGAGCTGCCGTTTGGGTTCCATTGTCGGGTTGTGTGATGCTGGGCATGTTCCCTTTCCTCTGGACCTCCACAGATCATGTGGGCGTTTGATCAGCCAGTTTCCCAGACCCTCTCACTTCAGAGGCTTTAATTCCATAGAGGAGCTGAGGAGGCTGCTGGTTTGAGAGGAAGGATGTGCCATCTGCTAGGATCTCTCCTGGTGCTGCAGGAGTGAACTTTGGTCTTCCTTGATACTTAACAGTGTGCTTCCTTTTGCTGTAGGTGTCGACTGCAATGGCCGAGGAGATCAGGCGCCTCTCTGTACTGGTGGACGATTACCAGATGGACTTCCACCCTTCTCCAGTAGTCCTCAAGGTTTATAAGAATGTGAGTCATGGAGCAACAGGTCCTCTTGGCAGGAGGCCCCCAAAAGTGATTCAACCCCTGTTGGTCTGGGTCAGGGCCCCCCAGCAGTGACAGTAGAAGCCACAGAGACAAGGCCCAGGCTTCCGTCAGCCTTCTGGGGTCACCTGGTGGATGTGGCCTGAAGGGAATTTTGATGGACATGCTTCTCTTAACTTCCCTCTTCTGGTGGCAGGAGCTGCACCGCCACATAGAGGAAGGACTGGGTCGAAACATGTCTGACCGCTGCTCCACGGCCATCACCAACTCCCTGCAGACCATGCAGCAGGACATGATAGGTTAGTGCCATGGGGAACTGGGCAGCTGTGGCCCTGGGCTGCCCAAAGATCAGATGCGGAGGCCAAGCTAAAGAAATCAGGACTTTCCTTATCTGTCACTTTTCATGATGATTCAACTCGATACCTTCAGGTTCTGGGTACATGTTCTGAACTCATTCTTGTTTGCTTTTTGAGACAGAGTCGCACTCCGTAACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCTGCCACCGAGGTTCAAGCGATTCTTCTGCTCCAGCGTCCCGAGTAGCTGCGACTACAGGCGTGACCACCACACCTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCACGTTGGCCAGGCTGGTCTCTAACTCCTGACCTCAAGTGATCTATCTGCCTTGGCCTTCCAAAGTGCTAGGATTACAGGCATGAGCCACCGGCCCTGGCCTTGTGAACTCATTCTGTACACAGGGTTGGGGAGCCCATCTTGTTCTACTACATGGGTCTACCCTAGGCTGAGAATTGGGCCTGCTCCTTTAAGTCCACGTGAGGCATAAGTGTTAGCAGTATGGCATCTGAGTCCACACTTGCCTGGGAGAGCTGGCCTCAAGTGAGGCATGCTCAGTCTCACGGGCCAACTTGACTGGGGTGTGGTTCCCAGGCAAAGCTGTTCAGCATCCCTGGCAGTAGCTGGTAGAGCCCTGTCTCCAAGGCTTGGTGCCGCTGTGGTGCAGGGCTGAGCTGATAAGCTTTTCCTCCATTTCTCTTCCTGACAGATGGCTTGAAACCCCTCCTTCCTGTGTCTGTGCGGAGTCAGATAGACATGCTGGTCCCACGCCAGTGCTTCTCCCTCAACTATGACCTAAACTGTGACAAGCTGTGTGCTGACTTCCAGGAAGACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTGAATAGGTTCCTGGGCCCCAAGAACAGCCGTCGGGCCTTGATGGGCTACAATGACCAGGCAAGCAAAGTTCCTCACCTCAAGGGCATTGTGGGGGGTCAGTCTGTACCCTGCCTCCAGACACGGGAACCATTCTAAAACGGGGGTTCCCTAAGGTCAGCAGCTGTGGTGGTGTGCCCCACCACACAGTACACCACAGACAGAATTTTTGCTACTGATTGACCTGGATTTGTTCTAAGCAGTGATATTTGTGAAATGACAGATGCTAGTATTTTTCTCTAATACACATTAAAGTAAGTATGTAACTATTAAAAATAGACGACTTTAAAAATAACCACCTACATACGACTATTTTAAAGTTCAGATTTTAAAAACATTCATCTCTAAACCACTTGAGTTGTCACATGTACTGCCCTCTGTACACATCCCACACTCGGGGAAGCTGCCAGGCGGGTCAGGATGGCTCCTGCTCACATTTTGCACGTCCCGTGGTGCTCACCTGAGGGTCTCCTCTGCTACATCTGAAGCTAGTTGTCCCCTTTTTGCCTTTTGGAAATTGAAGAGCCACTCTGTGTCCCTGTTCCCCAGACTAGGGCAACACTGAGGGTTCACGTGAATGAGAGACTCAATACGTCCCCCTCACCCCTCTCATGTTTCTCTCCTCAGGTCCAGCGTCCCATCCCTCTGACGCCAGCCAACCCCAGCATGCCCCCACTGCCACAGGGCTCGCTCACCCAGGAGGAGTTCATGGTTTCCATGGTTACCGGCCTGGCCTCCTTGACATCCAGGACCTCCATGGGCATTCTTGTTGTTGGAGGAGTGGTCAGTGACCAGTTCTGCTCGGGAAGGTGGGGGCGGAGGGCAGGTGGGCGGGGCCTGAGGGCTAGGTTCCTGCTGTGGCCCCTGCATTGGGCCACACTCCACAGTCCACTGCATACTTTCTCCTCTGTGATTGCATGGGGAGCGCTTACTCCCTCACCAAGTTTCCCTCACTTCCTGCTGGACATGGTCCCAGACCTTCTGGCCTCGGTGGGATCAAAGGAGACATTGAAAGAGGAACTCAGAGTAGAAACATGAAGGCTCCTTGGCTGGGGCCCTTCAGATGGCCCTN
benign
3,288
Does the chromosome 1 mutation at position 12373755 within gene VPS13D (vacuolar protein sorting 13 homolog D) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['VPS13D-related_disorder']
AAAGTACCCAGTATTTTTTGTGGCTGAATACTATGCTGTATACTACATTTTTGTTTATCCAGTTATTTGTTGATGGACATTTGGTTGTTTCTGCGTTTTGGCTATTGTAAACAGTGTTGCTATGAACATGCCTGTACATATATTTGTTTGAGTACTTGTTTTCAATTCTTTTGCTTTATACAGAAGAGTGGAGTTGCTGGGTTCTATTATAATTCTAAGTTTAACTTTTTGAGGAACCGCCATACTGTTTTCCACAGTGGCTAAACGATTGTACATTCCTACCAACAGTGTAGAGAGGTTCCAATTTCTCCACATCCTCACCAACATGTGTTGGTTTTTGTTTTTGTTTTTATTTTTATTTCTATTTTTGAGACAAGGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCTGCTGCATCCTCAACCTCCTAGGATCAAACGGTCCTCCTGCTTCAGCCTCTCTCATAGCTGGGACTACAGGTATGCAGCACCACGCCCAGCTAATTGAAAAAAAATTTTTTTTTGGTAGAGACAGGGTCTCACTATTTTGCCCAGGCTGGTCTCAAACTCTTGGGCCCAAATGCTATCTACCTGCCACAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCCAGGCCTGGTTTTGTTTTGTTTTGTTTTGTTTTAAATGATACCCATCCTACTGGGTATGATGTGGTATCTCATTGTGGCTTTTGATTTGCATCCTTAGTAACTAATGATGTTATGCGTCTTTTCATGTGCTTATTAGTCATTTGTGTATATTATTTGGAGAAAGTGTATTCAAATACTTTCCATATTTCAAATGGAATTATTTACCTTTTTATTGTTGAATTGTCAGAGTTCTTCATATCTGGTCTCTTACCAGATGTATGATTTGCAATTTTTTTCTCCCATTATTTTTGTGAGTTTTCTTTTTACTTTTAGATTGTGTCCTTTCAAGCACAGAAGTTTCTCATTTTGGTCACATATAATTTATCTGCTTTGGGGGGAACAAAGATTACTTGTGCTTTTGGTGTCATGAAGACTAGTTTTTAACGCTGAATTAATCCATTACCTTTTTTTTTTTTTTTTTTTGCTAATAAGGGTTAATAGAAAGAGGAGAATAATCTAAATAAAACTTCCAAACATCCCTAAGTGTAGCCAGGCTGCAACATTCCATAAAGCTTAGGATTCTTTAGCTTCAGAGAAACGTAACACGATTGAATTGGAGGAAGTTGATTGGAACCCTTTGTTTTCTTTTCATCCTAAAGGGACTTCTGATTTCTTGCCAAGACTTGGGGATGCAGTGATGCTGATCATCTGCCTGGCAGAGTAAAGCTAATTTTTGGTCCCTTGAATTGTCTGGCTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTTGGGGGTTGGGGCAGAATCTCATTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAGTCTCAGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGCAATTCTCATACCTCTGCCTCGTGAGTAACTGGGATTACAGGGGCCTGCCTCCATGCCCGGCTAATTTTTGTGTTTTTAATAGAGACGGGATTTTGCCGTGTTGGTCAGGCTGGTTTCGAACTCCTGGCTTCAGCAGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGTGCCTGGCCAAATTTTTTGCCTTTTTTTTTGGTGGGGGGGCCTCTAAAGATATATGGTTATACTTTTGCATCTGAATTTTAAGTCACTAAAATTATGAAGAGAAGAAAAATGTCAGAGTATGTCTTCTGAGAGATGAATCTTGGAACTGTGTAGGGAAAAAAATGCAACCCTGATCTTTCTGCTCTTGCATCAGACTTTTTCTTCTATCCTTTAAAAAATTTTCTTTTTAATAAAAGTTTTGGGCATTTGCTTATTAATACTTGAATACATGTGTGAGTATGTGTGTGTATACCTGTATATATATTTTTATGTAATATATATATTTTTTAAATTCTAGCTTGCAGGAGGGAACAGGCAGGCCTGTGGCTTCCAACAAGGCCATTACCTGTGCGGAGCTCGTTTTGGATGTCTCACCCAAGACACAAAGAGTCATTTTAAAAAAGAAGGTAAGAGAGCTTACAATCAGAGTTTAGAATACAAGGTTTTTAGCACTGGACGGGACTCAGGATCACCCAGTGCAGAGTCCTTATTTCATGATGAGGCCATAGGGACTTGTGTGGAACCCAGGCCTCTTGGCATTTCCAGGTCAGTGTTAGGGCGGATGAGTACCAGCTCAGGAGTAAGATGACTTCTGGAGTGGGATGTGATCACCAGGTGTGATCAGCAGAACGTGAATAATAAATATATGTGGAATTACTAAGGGCTGGGTGACTGTTAAGCAGACAAGAACAAATTTCTAAGATTAAGTAGCAATAATTGTAACATTTTATATAACATTTTATAACTTATAGAACATTTTCAGTTATTATTTCACTTGATAAGGATGACAGCTAGTAAATAGGTAATAAAAGAGTTACATTGACATTGAAAATTAGGTTAAAGTGTATGAACTGGCATGAAGAAATGGACCTCTCCTTTTTAGTTGGAAACCAAGTGTAGAAAGTTTGACATTTTAGGTTTTTGTTTGGTTTGTTTTTGTTTTTTTTACTTTTTATTTGGAAACAATCTCAGATTTCCAGAAAATTGGCAAGAATTTTACCAAAGTGGGGCTGTGATGTTGATTTGTCCCCTTACTGGTGACATTAACTTATTGCAGTTGATTAAGAAGGTGTGTGGTAGCCTTTTCCACTGAGAAGTGAGGCTACTCTTTTTCTTTTTATAATCAGTCAAGATTTTGTGGCGTGGTACGTTGAGACTACATAAACCTCCTATTTGTCATATTTTCTATATATGTATGCATATGTATATGTGTCATTCAGTATGGGCTGCTGTTTTATTCAGCGTGTTATCTGTTACTGTGTCAGTATGTGTATGCGTATGTATGTATGTATTTATTTATTTTTGAGATGGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCACCACCACACCCAACTAATTCTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGCCTGAGCCACCATGCCCGGCCAGTATTTATTTTGATGCTCAGTTTTTCTTATCTTTGGCCAGTGGGAGCTCCTTTAACCTTCCGTGTGCTTTCAGCATGTGCCCTCACTCACTTCCTTACTTTCTGACACAGCAAGTTATCCTGGGTCAATCTTATATTTTTCCCTGCACCATTCCTGGAATTTGCCATTTCTCCAGGGAGCCCTCATCCCTTCTATCAGAGAATGGAATTTAGAAACCTGAGATTCATGAATTAGGTGCAGTTGTTGCTATTGTGGTGTTGTGGTTCCCAGGCTCTCTCAGAAGACAGACCTAGGGTTTTTTAATCTATGTATGCACAAATATACATATGTGTGTTTTATGTACATATTTATATACTGTACATATTTATTTCTATGTCTACATATCAAAATCTAGCAGTTCACACCAATATTTCCAATTCAAGTCCAGTATGACAAAGTTCATTCTAATTTTCTCCCTTTCCCTATTTGTACTTCCCTTGTCCAGCACTGAGAATATGTTTATTGATTTGATCAGTTCCCCTGAATGTAACAGTGTAACTCATCCTCCGTCACCACAGTTGTCCCATGTCCTGTATGAACACCCTGGTTTCTTCCCTTGGGCTCTGATCTCCATGTACTGGGCAGCCCTGCCCTCTTCCCACCCTGTCCTTCGCAGGAATGCCCTCCTCACCTCCCTCTGTGATGCTCCCATTAAACCCCTCCCCAACCTCCCAACTTGGCTTCAGCCCCTGCTCTGGGCTGCCCCATCGCTTAGGTGGATGCCT
AAAGTACCCAGTATTTTTTGTGGCTGAATACTATGCTGTATACTACATTTTTGTTTATCCAGTTATTTGTTGATGGACATTTGGTTGTTTCTGCGTTTTGGCTATTGTAAACAGTGTTGCTATGAACATGCCTGTACATATATTTGTTTGAGTACTTGTTTTCAATTCTTTTGCTTTATACAGAAGAGTGGAGTTGCTGGGTTCTATTATAATTCTAAGTTTAACTTTTTGAGGAACCGCCATACTGTTTTCCACAGTGGCTAAACGATTGTACATTCCTACCAACAGTGTAGAGAGGTTCCAATTTCTCCACATCCTCACCAACATGTGTTGGTTTTTGTTTTTGTTTTTATTTTTATTTCTATTTTTGAGACAAGGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTTGGCCTGCTGCATCCTCAACCTCCTAGGATCAAACGGTCCTCCTGCTTCAGCCTCTCTCATAGCTGGGACTACAGGTATGCAGCACCACGCCCAGCTAATTGAAAAAAAATTTTTTTTTGGTAGAGACAGGGTCTCACTATTTTGCCCAGGCTGGTCTCAAACTCTTGGGCCCAAATGCTATCTACCTGCCACAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCCAGGCCTGGTTTTGTTTTGTTTTGTTTTGTTTTAAATGATACCCATCCTACTGGGTATGATGTGGTATCTCATTGTGGCTTTTGATTTGCATCCTTAGTAACTAATGATGTTATGCGTCTTTTCATGTGCTTATTAGTCATTTGTGTATATTATTTGGAGAAAGTGTATTCAAATACTTTCCATATTTCAAATGGAATTATTTACCTTTTTATTGTTGAATTGTCAGAGTTCTTCATATCTGGTCTCTTACCAGATGTATGATTTGCAATTTTTTTCTCCCATTATTTTTGTGAGTTTTCTTTTTACTTTTAGATTGTGTCCTTTCAAGCACAGAAGTTTCTCATTTTGGTCACATATAATTTATCTGCTTTGGGGGGAACAAAGATTACTTGTGCTTTTGGTGTCATGAAGACTAGTTTTTAACGCTGAATTAATCCATTACCTTTTTTTTTTTTTTTTTTTGCTAATAAGGGTTAATAGAAAGAGGAGAATAATCTAAATAAAACTTCCAAACATCCCTAAGTGTAGCCAGGCTGCAACATTCCATAAAGCTTAGGATTCTTTAGCTTCAGAGAAACGTAACACGATTGAATTGGAGGAAGTTGATTGGAACCCTTTGTTTTCTTTTCATCCTAAAGGGACTTCTGATTTCTTGCCAAGACTTGGGGATGCAGTGATGCTGATCATCTGCCTGGCAGAGTAAAGCTAATTTTTGGTCCCTTGAATTGTCTGGCTTGGTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTTTTTTGGGGGTTGGGGCAGAATCTCATTCTGTCACCCAGGCTAGAGTGTAGTGGTGCAGTCTCAGCTCACTGCAACCTCTGCCTCTCAGGTTCAAGCAATTCTCATACCTCTGCCTCGTGAGTAACTGGGATTACAGGGGCCTGCCTCCATGCCCGGCTAATTTTTGTGTTTTTAATAGAGACGGGATTTTGCCGTGTTGGTCAGGCTGGTTTCGAACTCCTGGCTTCAGCAGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCCACCGTGCCTGGCCAAATTTTTTGCCTTTTTTTTTGGTGGGGGGGCCTCTAAAGATATATGGTTATACTTTTGCATCTGAATTTTAAGTCACTAAAATTATGAAGAGAAGAAAAATGTCAGAGTATGTCTTCTGAGAGATGAATCTTGGAACTGTGTAGGGAAAAAAATGCAACCCTGATCTTTCTGCTCTTGCATCAGACTTTTTCTTCTATCCTTTAAAAAATTTTCTTTTTAATAAAAGTTTTGGGCATTTGCTTATTAATACTTGAATACATGTGTGAGTATGTGTGTGTATACCTGTATATATATTTTTATGTAATATATATATTTTTTAAATTCTAGCTTGCAGGAACAGGCAGGCCTGTGGCTTCCAACAAGGCCATTACCTGTGCGGAGCTCGTTTTGGATGTCTCACCCAAGACACAAAGAGTCATTTTAAAAAAGAAGGTAAGAGAGCTTACAATCAGAGTTTAGAATACAAGGTTTTTAGCACTGGACGGGACTCAGGATCACCCAGTGCAGAGTCCTTATTTCATGATGAGGCCATAGGGACTTGTGTGGAACCCAGGCCTCTTGGCATTTCCAGGTCAGTGTTAGGGCGGATGAGTACCAGCTCAGGAGTAAGATGACTTCTGGAGTGGGATGTGATCACCAGGTGTGATCAGCAGAACGTGAATAATAAATATATGTGGAATTACTAAGGGCTGGGTGACTGTTAAGCAGACAAGAACAAATTTCTAAGATTAAGTAGCAATAATTGTAACATTTTATATAACATTTTATAACTTATAGAACATTTTCAGTTATTATTTCACTTGATAAGGATGACAGCTAGTAAATAGGTAATAAAAGAGTTACATTGACATTGAAAATTAGGTTAAAGTGTATGAACTGGCATGAAGAAATGGACCTCTCCTTTTTAGTTGGAAACCAAGTGTAGAAAGTTTGACATTTTAGGTTTTTGTTTGGTTTGTTTTTGTTTTTTTTACTTTTTATTTGGAAACAATCTCAGATTTCCAGAAAATTGGCAAGAATTTTACCAAAGTGGGGCTGTGATGTTGATTTGTCCCCTTACTGGTGACATTAACTTATTGCAGTTGATTAAGAAGGTGTGTGGTAGCCTTTTCCACTGAGAAGTGAGGCTACTCTTTTTCTTTTTATAATCAGTCAAGATTTTGTGGCGTGGTACGTTGAGACTACATAAACCTCCTATTTGTCATATTTTCTATATATGTATGCATATGTATATGTGTCATTCAGTATGGGCTGCTGTTTTATTCAGCGTGTTATCTGTTACTGTGTCAGTATGTGTATGCGTATGTATGTATGTATTTATTTATTTTTGAGATGGAGTCTTGCTCTGTTGCCTAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGCCCACCACCACACCCAACTAATTCTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCGCCTGCCTTGGCCTCCGAAAGTGCTGGGATTACAGGCCTGAGCCACCATGCCCGGCCAGTATTTATTTTGATGCTCAGTTTTTCTTATCTTTGGCCAGTGGGAGCTCCTTTAACCTTCCGTGTGCTTTCAGCATGTGCCCTCACTCACTTCCTTACTTTCTGACACAGCAAGTTATCCTGGGTCAATCTTATATTTTTCCCTGCACCATTCCTGGAATTTGCCATTTCTCCAGGGAGCCCTCATCCCTTCTATCAGAGAATGGAATTTAGAAACCTGAGATTCATGAATTAGGTGCAGTTGTTGCTATTGTGGTGTTGTGGTTCCCAGGCTCTCTCAGAAGACAGACCTAGGGTTTTTTAATCTATGTATGCACAAATATACATATGTGTGTTTTATGTACATATTTATATACTGTACATATTTATTTCTATGTCTACATATCAAAATCTAGCAGTTCACACCAATATTTCCAATTCAAGTCCAGTATGACAAAGTTCATTCTAATTTTCTCCCTTTCCCTATTTGTACTTCCCTTGTCCAGCACTGAGAATATGTTTATTGATTTGATCAGTTCCCCTGAATGTAACAGTGTAACTCATCCTCCGTCACCACAGTTGTCCCATGTCCTGTATGAACACCCTGGTTTCTTCCCTTGGGCTCTGATCTCCATGTACTGGGCAGCCCTGCCCTCTTCCCACCCTGTCCTTCGCAGGAATGCCCTCCTCACCTCCCTCTGTGATGCTCCCATTAAACCCCTCCCCAACCTCCCAACTTGGCTTCAGCCCCTGCTCTGGGCTGCCCCATCGCTTAGGTGGATGCCTNNNN
pathogenic
3,433
The genetic variant at chromosome 1, position 15445687, affecting gene CTRC (chymotrypsin C): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Hereditary_pancreatitis', 'Pancreatitis,_chronic,_susceptibility_to', 'likely other unspecified diseases']
TGCCTTCACATTTTCATGTCTTTGTAAACTTTGTAACAATAACAGCTAATATTTACTAAGCACATACCATGTGACAGACACTCTAGCAAGGGTCTCTGAGAGATGTGGTAAAGTTTAGACGAATTAGAATTTGTCAAGTGCTCAGAACAGCACTTGGCACATAGTAAGTGTCACATAAATAAACTAAAATAAACCATTAGGGGTAGGGGATGACATCTGTGGTATACCGTATGCCCAAATAGGTCCCAGCTGAATTAAAAGTTAAATGCAAATCATGAAACTATGGGAGACTTAGAAAATGCAGATCACTATTTAGAAAATCCTGGGGGAGAAGTCAGCTGTGGCGGCTCACACCTGTAATCCCGACATTTTAGGAAGCTGAGGAGGAAAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGCCTCTACAAAAAAAAAATTTTTAAATAGCAGTGTATGGTGGTGTGTACCTGTAGTCCCAAACTACTCAGGAGGCTGAGGTGAGAGGATCATTTGAGCCCAGGGGTTTGAGGCTGCAGTGAGCTATGATCTTGCCACTGCTGTCCAGCCTGAGCAACAGAGTGAGACCTTGTATGTATCAAAAAAAAAAAGAAAGAGAAATAGAAAATCTTGGGGGTGAGAAAGGCTTTTTAATGGGTGACAGCAAAGACAGAGACCCACAGGAAATTATTGACAATTAAATCCCCAGAATCCAACTTAAAGACAACTCAACTCAACACTGTAGCTTCCTTCTGCCGGCAGCCTGCTCCTGACCCTCTGGGACCTTGGCTTGCCTCTTGATGAAGGGCAGGTGTGTGGTCCGCACACTGTCTCAGCCGGCGCTCCCCTGGGTCCTGTCCCAGGCATCTGCTCCCTGAAGGCCTGGGGAGGGGCTGGACTGGGCTTCCCGGCTGCCTCCCTGGTCACTGCTCACTCTCTCCCCAGCCAACGGCCCCATTGCTGATAAGCTGCAGCAGGGCCTGCAGCCCGTGGTGGATCACGCCACGTGCTCCAGGATTGACTGGTGGGGCTTCAGGGTGAAGAAAACCATGGTGTGCGCTGGGGGCGATGGCGTCATCTCAGCCTGCAATGTGAGTGGCTAGGTTCTGCACCTTGTCCCTACTCCAAGTGGCCAAGTGGATGTGGGCAAAGGGGGGTGCGATGGACCAAACCCTTCTCCTGGGAGGAGACTGAGCGAGCCCTGGCTGGGCCCAGCAGGCTCAGGGTAAGCCCATCACCCCCCATCACTGTGGTGAGAGCATGAGCATTGAGCACGAGTATCTGAGTTCAAGCCCCAGTCCCACCATTTATGAGCTACGTAAACTTGGGAGGGCCGTTGAACCTCTGACCTCAGTTTTTCCATCTGTAAAATGGAGTTACAGTAACCACTTCACAGGGTTAGGACTAAATGAGTTTAAAGGACAGAGAAGAGGCTTCACTGAAGTCTCTACACATGTTCCTCCATGCATTTGCTCCACCAGTCCAGGGAGACCAGAACCATAAAACATCTAAGACAATCAGGGAATGTCCTGTTTTCAAACACACAACCCTCTCCCCATTCTCACCCTCCTTCCTCACCTTCCCAGGCCTCTAGCACAGCTGCCTGCATCCTCACTGCTCTGAGTAGCTCACAGAGTCTTAGATAAGGAGACCTGAACAGCTAGGGAAACTGAGGCACGGAGAGGATTAACATCATCCCAAGATCACACAGCAAACCAAGAGCTAGTCTGACACCCCAGGGCCTCCCAGAATAAGGCCAAGGCAGCCGCAAACCACATTTCCTCTGCCTCCCTCACCATGGGCAGGCTGAGGCCAAATCTGTCCACTAACTAAGGCTGAGAAGCCAACCCACATCCCCCACCCCAACCCAGTCCTGCTTCCCAAGACTTCCTCTGGGGGGGGGCCTGGTGGCTTATGCCCTCCCGGTCTGGTGCAGGGGGACTCCGGTGGCCCACTGAACTGCCAGTTGGAGAACGGTTCCTGGGAGGTGTTTGGCATCGTCAGCTTTGGCTCCCGGCGGGGCTGCAACACCCGCAAGAAGCCGGTAGTCTACACCCGGGTGTCCGCCTACATCGACTGGATCAACGAGGTGGGTGCTGCCTCCACAGCTGTCCCTGCACCTGTCAGCCCCTCCCCCTCACTCACCCATCCCCTCACTCATTCACTCATTCATGCGTTTATTCATTCATTCATTTATTCACTCATTCATGCATTTATTCACTCATTCATGCATTCATTCATTTATTCACTTATTCAGTCACTCATTCATGTATTTATTCATTTATTCATTCACTCATGCATTCATTCATTCATTTATTCACTTATTCATTCACTCATTCATGTATTCATTCATTCATGCATTTATTTACTCATTCATCCATTTATTCACTCATTCATTTGCTCATTCAGTGATTCATTCATGCACTTCTTCACACATTCACTCTCTCATTCAAGTAATATTGGTTGAGTGCTTCCAGTAGCAGGCCTTGAGTTGGGTGCCAATAAGGAAACAGTCATTGACTCCTCCATCCATCCATTCACTGCCTTCATCAAGCACTTATGTCCCCATCCAGGCCCCACACCAGTCTCCCCCAAAAACTGACCCCCTGAGGGTATGGCCCAGCAGAGGAGAGGGATGGTGTGGATGGCCATTTCTCATCTTGAGAGTAGGGGAACAGAGGGTCACCCTGGGCTGGGGGCTTCCCCATTGGGGACAGAGTGTGTTCCAAGACCCATTTGCACAGTGGCCTGAAATGCTGAGGGCCTCAGACCCCTTGAACAGGGACAAGGCTGGCATGTGAAGGCCGGGGGCTGCTGGCCATGCCCCCATGGACCCACCCTCCGGGCAGAGCCCTGTGCCACCCTAGAAGGTGGCACAGCCCTGAGTCTCTCACACTGTTCTCTGCTCCTCCAGAAAATGCAGCTGTGATTTGTTGCTGGGAGCGGCGGCAGCGAGTCCCTGCAACAGCAATAAACTTCCTTCTCCTCGGGCCACCTGGATCCTTGATTTGTGCAGCTTCTGTTGCTTCCCTCCTCTCTGGTGCTGCCCCTTTCCACACTATGGAGCCAAAGAGAGACCCCACTCAGCCAGTTTCCCCCACCCTGCATTAGACAGGTGGGGAAACAGAGGCCGGGAGAGAGGGCCAAGGAAGGAGCCTCCTGGGGCATTAATGGGAGGCAGGGGGCTGGGGTGGAGAGCCCAGGGAGTCCTGCGTGAAGCCGGAGGGGATGGGAGTGAAGGACGCATCAGACACCTTCCCCGCTCCATCTCACAAGCTGCGAACAGGTGAGACCCTGATGAAATCACTCGCTTCTCCGATCCTACCTCCACCGAGGGGCCTGGCAGGTCCTCACAGCCCCCCAGCAGCAGGTGGAAGACAGGGTCTCCCCAAAAGCAGCGTCCCCCAGGCCAGAGAGACCAGGCCACAGGAGGATGGCCAAAGCTCAGGGACAACCACTCCTGGGGAAGGGGCTCCCTAGCAGGGACCCCCCACCCCCACCCCGCAGCACAGACCCCATGGCTGCTGTTGGCAGGGGCTCTCTGCTTTGAGAAGTGTTTAGTGAGCCAGCCCCTGTGTCCAGTCCTGTGCTGGGCATGATGAGGGTACAGGAAGAGGAAGAGACCCCAGCATCATCCTCAGGAGACATACGTTTGAAGAAGGCAATGGTTTCCACACAGAATCACAGTGGTCAGAGCTGGATATGCTTTCATTGCATTAGACAAGTGGGGAAACTGAGGCCCAGAGAGAGGAAGGAGTTGGGATAGCTGGCAATGCCTGATCCAGGAGAAGAGAGTTCTCCTGAGGCTGACAAGAGGCCAAGAGGAGCCAGAGATGAGATAGACCCAGTGTCCAGGGAGGGACATGCCAGTGGGATCAGACCCTGATGACAGGGGCAGCCAGAGATGAGAGAGATCCAATGTCCAGGGAGGGACATGCCAGGGGGATCAGACCCTGATGATAGGGGCCTCTGGCCTGGCCTGCTCCTGGGAATGTCCTGTTCTGTGGGGGTGCCCCCAGCCCAGCCTCTGGACCCCTCGCTGGAGAGCCCTCGGCTGCAGCTACCTCAGACTGG
TGCCTTCACATTTTCATGTCTTTGTAAACTTTGTAACAATAACAGCTAATATTTACTAAGCACATACCATGTGACAGACACTCTAGCAAGGGTCTCTGAGAGATGTGGTAAAGTTTAGACGAATTAGAATTTGTCAAGTGCTCAGAACAGCACTTGGCACATAGTAAGTGTCACATAAATAAACTAAAATAAACCATTAGGGGTAGGGGATGACATCTGTGGTATACCGTATGCCCAAATAGGTCCCAGCTGAATTAAAAGTTAAATGCAAATCATGAAACTATGGGAGACTTAGAAAATGCAGATCACTATTTAGAAAATCCTGGGGGAGAAGTCAGCTGTGGCGGCTCACACCTGTAATCCCGACATTTTAGGAAGCTGAGGAGGAAAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTGCCTCTACAAAAAAAAAATTTTTAAATAGCAGTGTATGGTGGTGTGTACCTGTAGTCCCAAACTACTCAGGAGGCTGAGGTGAGAGGATCATTTGAGCCCAGGGGTTTGAGGCTGCAGTGAGCTATGATCTTGCCACTGCTGTCCAGCCTGAGCAACAGAGTGAGACCTTGTATGTATCAAAAAAAAAAAGAAAGAGAAATAGAAAATCTTGGGGGTGAGAAAGGCTTTTTAATGGGTGACAGCAAAGACAGAGACCCACAGGAAATTATTGACAATTAAATCCCCAGAATCCAACTTAAAGACAACTCAACTCAACACTGTAGCTTCCTTCTGCCGGCAGCCTGCTCCTGACCCTCTGGGACCTTGGCTTGCCTCTTGATGAAGGGCAGGTGTGTGGTCCGCACACTGTCTCAGCCGGCGCTCCCCTGGGTCCTGTCCCAGGCATCTGCTCCCTGAAGGCCTGGGGAGGGGCTGGACTGGGCTTCCCGGCTGCCTCCCTGGTCACTGCTCACTCTCTCCCCAGCCAACGGCCCCATTGCTGATAAGCTGCAGCAGGGCCTGCAGCCCGTGGTGGATCACGCCACGTGCTCCAGGATTGACTGGTGGGGCTTCAGGGTGAAGAAAACCATGGTGTGCGCTGGGGGCGATGGCGTCATCTCAGCCTGCAATGTGAGTGGCTAGGTTCTGCACCTTGTCCCTACTCCAAGTGGCCAAGTGGATGTGGGCAAAGGGGGGTGCGATGGACCAAACCCTTCTCCTGGGAGGAGACTGAGCGAGCCCTGGCTGGGCCCAGCAGGCTCAGGGTAAGCCCATCACCCCCCATCACTGTGGTGAGAGCATGAGCATTGAGCACGAGTATCTGAGTTCAAGCCCCAGTCCCACCATTTATGAGCTACGTAAACTTGGGAGGGCCGTTGAACCTCTGACCTCAGTTTTTCCATCTGTAAAATGGAGTTACAGTAACCACTTCACAGGGTTAGGACTAAATGAGTTTAAAGGACAGAGAAGAGGCTTCACTGAAGTCTCTACACATGTTCCTCCATGCATTTGCTCCACCAGTCCAGGGAGACCAGAACCATAAAACATCTAAGACAATCAGGGAATGTCCTGTTTTCAAACACACAACCCTCTCCCCATTCTCACCCTCCTTCCTCACCTTCCCAGGCCTCTAGCACAGCTGCCTGCATCCTCACTGCTCTGAGTAGCTCACAGAGTCTTAGATAAGGAGACCTGAACAGCTAGGGAAACTGAGGCACGGAGAGGATTAACATCATCCCAAGATCACACAGCAAACCAAGAGCTAGTCTGACACCCCAGGGCCTCCCAGAATAAGGCCAAGGCAGCCGCAAACCACATTTCCTCTGCCTCCCTCACCATGGGCAGGCTGAGGCCAAATCTGTCCACTAACTAAGGCTGAGAAGCCAACCCACATCCCCCACCCCAACCCAGTCCTGCTTCCCAAGACTTCCTCTGGGGGGGGGCCTGGTGGCTTATGCCCTCCCGGTCTGGTGCAGGGGGACTCCGGTGGCCCACTGAACTGCCAGTTGGAGAACGGTTCCTGGGAGGTGTTTGGCATCGTCAGCTTTGGCTCCCGGCGGGGCTGCAACACCCGGGTGTCCGCCTACATCGACTGGATCAACGAGGTGGGTGCTGCCTCCACAGCTGTCCCTGCACCTGTCAGCCCCTCCCCCTCACTCACCCATCCCCTCACTCATTCACTCATTCATGCGTTTATTCATTCATTCATTTATTCACTCATTCATGCATTTATTCACTCATTCATGCATTCATTCATTTATTCACTTATTCAGTCACTCATTCATGTATTTATTCATTTATTCATTCACTCATGCATTCATTCATTCATTTATTCACTTATTCATTCACTCATTCATGTATTCATTCATTCATGCATTTATTTACTCATTCATCCATTTATTCACTCATTCATTTGCTCATTCAGTGATTCATTCATGCACTTCTTCACACATTCACTCTCTCATTCAAGTAATATTGGTTGAGTGCTTCCAGTAGCAGGCCTTGAGTTGGGTGCCAATAAGGAAACAGTCATTGACTCCTCCATCCATCCATTCACTGCCTTCATCAAGCACTTATGTCCCCATCCAGGCCCCACACCAGTCTCCCCCAAAAACTGACCCCCTGAGGGTATGGCCCAGCAGAGGAGAGGGATGGTGTGGATGGCCATTTCTCATCTTGAGAGTAGGGGAACAGAGGGTCACCCTGGGCTGGGGGCTTCCCCATTGGGGACAGAGTGTGTTCCAAGACCCATTTGCACAGTGGCCTGAAATGCTGAGGGCCTCAGACCCCTTGAACAGGGACAAGGCTGGCATGTGAAGGCCGGGGGCTGCTGGCCATGCCCCCATGGACCCACCCTCCGGGCAGAGCCCTGTGCCACCCTAGAAGGTGGCACAGCCCTGAGTCTCTCACACTGTTCTCTGCTCCTCCAGAAAATGCAGCTGTGATTTGTTGCTGGGAGCGGCGGCAGCGAGTCCCTGCAACAGCAATAAACTTCCTTCTCCTCGGGCCACCTGGATCCTTGATTTGTGCAGCTTCTGTTGCTTCCCTCCTCTCTGGTGCTGCCCCTTTCCACACTATGGAGCCAAAGAGAGACCCCACTCAGCCAGTTTCCCCCACCCTGCATTAGACAGGTGGGGAAACAGAGGCCGGGAGAGAGGGCCAAGGAAGGAGCCTCCTGGGGCATTAATGGGAGGCAGGGGGCTGGGGTGGAGAGCCCAGGGAGTCCTGCGTGAAGCCGGAGGGGATGGGAGTGAAGGACGCATCAGACACCTTCCCCGCTCCATCTCACAAGCTGCGAACAGGTGAGACCCTGATGAAATCACTCGCTTCTCCGATCCTACCTCCACCGAGGGGCCTGGCAGGTCCTCACAGCCCCCCAGCAGCAGGTGGAAGACAGGGTCTCCCCAAAAGCAGCGTCCCCCAGGCCAGAGAGACCAGGCCACAGGAGGATGGCCAAAGCTCAGGGACAACCACTCCTGGGGAAGGGGCTCCCTAGCAGGGACCCCCCACCCCCACCCCGCAGCACAGACCCCATGGCTGCTGTTGGCAGGGGCTCTCTGCTTTGAGAAGTGTTTAGTGAGCCAGCCCCTGTGTCCAGTCCTGTGCTGGGCATGATGAGGGTACAGGAAGAGGAAGAGACCCCAGCATCATCCTCAGGAGACATACGTTTGAAGAAGGCAATGGTTTCCACACAGAATCACAGTGGTCAGAGCTGGATATGCTTTCATTGCATTAGACAAGTGGGGAAACTGAGGCCCAGAGAGAGGAAGGAGTTGGGATAGCTGGCAATGCCTGATCCAGGAGAAGAGAGTTCTCCTGAGGCTGACAAGAGGCCAAGAGGAGCCAGAGATGAGATAGACCCAGTGTCCAGGGAGGGACATGCCAGTGGGATCAGACCCTGATGACAGGGGCAGCCAGAGATGAGAGAGATCCAATGTCCAGGGAGGGACATGCCAGGGGGATCAGACCCTGATGATAGGGGCCTCTGGCCTGGCCTGCTCCTGGGAATGTCCTGTTCTGTGGGGGTGCCCCCAGCCCAGCCTCTGGACCCCTCGCTGGAGAGCCCTCGGCTGCAGCTACCTCAGACTGGNNNNNNNNNNNNNNNNNNNNNNNN
pathogenic
3,519
Clinically, how would you classify the variant at chromosome 1, position 15716229, gene PLEKHM2 (pleckstrin homology and RUN domain containing M2): benign or pathogenic? If pathogenic, specify the associated illness(es).
benign
CCACCCGCCTTGGCTTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCCTGTTTTGGTTTTTTAATTAGAACATTGCACTAGATCTCTAAGGATGCTTCCAGCTGTAACATCTGTCTATAGGCTCTCTGATCTCAGATTTACTCAGATTTTGAAATTAAAAAAAAAAAAAAAAAAAAAGCTCTACCCCAGTGTGGTCGTACTTAATACTGAAGTGTGCAGTAATGTTTCCAGCTGTTGCTGAGAGGGATTATGCAGTTTTTGCAGGCTTATTCCTCTTTCTTTCAGCTCTAGAAATCTTTCCTTCTGGTGCTCTGATTTGCCTGCCTCTGGGAGGAAGGGAAGGGAAGACCCTGCAGGACTGAGGTTTGTCCTGGCTGACAGGCCTGCCAGGCTTGTTCCGGGCTGCAGAGAAGAGAGGCTATTTTTGTTGTGGGAGCTGAATTGTTGGTCTCTCTCCAGGAGCACATGCTTGTTGGTGTGGTTGATGTATCTTGCCTGCTGTGGCCATCTCTACCACTGCTTCCAGAAAACACTTGAGAATACGTTTGTCCCAAGAGGTTAAACCTGAGATCAGGATCAGGCATCTGTGCTCTTGTCTTGTGTTCCACTCCCTTCTGGCCATTGGAAGGGCAGTAGCAGAACAGGATATGGCTAACATGAACTTGGAGAGACTTTTCTCCTAGAGCTGTGCTTGAAAGGGGCCCTCTCTCTGTAACTGCGGTTGCAGTGAACTCAGTCCAATATCTGGGCTTTCTTGTCCTTCAGTAGGCTGATGGAGCTGCCCTTGCCCTCACCAGCCTGGTGGGGTTTGCACAGTGCTGCAGTTCATCTCACCTACTGTCCAAATCTCCTTTTATCAGCCCAGTCCAGGAACAGTGGTGTCCTTCTTGGTGTAGGGCTTAACGTGAGCCTTGCATGCACCTAGATCCATATCCAGCATTGCAGGCAATTCTAGTATTCCATGTCAAGAAGGCTGGCAAGAAGGCTGGTGGGGCAGGTGCCCCAGTCCATCGGCCCTTAGTATATGCAGAGGGTAGCTCCAAGTGGGGCCACTGTGATATGAAGGAGGATTGTTTGAATTCAGGAGATTGAGGCTGCAGCGAGCCGTGATCACACCACTGCACTCCAGCCTGCATGACAGAGTGAGACCCTGTCTCAAAACAAACAGGCCGGGCACAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCGAAACCTCGTCTCTACTAAAGATAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGCGACAGAACAAGACTTTGTCTCAATAAAACAAACAACCAAAAAGAAAAGAAAAAAGATACTTTTCTAATATATGACTGGGAAAAATGGGAAACTATAAAGGAAAAGATGGACAGATTTGACTGCCTAAAAATTAAAACTTTCTCAATAGGGCAAAACAATAACATAAGCAAAGTTTAAAGGTCTGTTGACAATGGGAGGAAAATACGTCTAGCGCTCTCTGTATCAATGCCCCAACTCTGGGTTTGTGTGGCATTGGTCTAGACAGCACTGTACATAGTGCCCCTGAAGTTGTGCCATGCTGTGGCCCTGGCCTGAAGCTTGCCACCACTTGAGACCTATGCATGGACAGTGGATCCCTCCAGCCTCAAGTTGTCACTGTGCGGACTGCTGACTGGGTGCCTCTGGGGGACTGGGCTGTAAAGATACAGCTGTTGCCTGCTGGAACCTCCAGTGCCAGAGCAGCAGCTGGGACAGGGGTGGTTTGAGGTAGACGTCTCTGCTGGTCATTGTGGATACACCATTTGACTAATTTTTTTTAGCTACCTTCTTGATTCCAGAACTTTTGTAGCCTTCCTCTTAATCCATTTCTGATTTGGAGGTGTTTTTTTTTCTTTCAGTTGCAGAGCTATTTTGCTGCATGTGAGGATGAGATCCCTGCCATCCGGAACCATGACAAGGTCCTACAGCGTCTGTGTGAGCACCTGGACCACGCCCTGCTGTACGGGTAAGGTGGAGGAAGTTTCCAAAGATGACGGAGCACAACCCAGGCCATGAGTAGCCTCCACAGAGAAACCCTTAGCCTCTCTGCCTTTTCTTTCTTCTCTCCCCTTGGCAGAAAGGGATTTGTCCCACTCAAGTGGGCCACAGTCTCTCTGTAGTTACCCCAGTAAATCATCTCTGGGCAGACATAAATGATGGAGGGAGGATTTGCCACAAATGATATGATGGTGTGAAGGTGTGCTGGGTGCCTGGGAGACCTGCTGGGGATCCATCACTTCCTGCCTTGCGCTCACTGCTGGACCAGCCGACTGCAGCTTCCCAGGGTGGCCCCATGCAGGTCACAGCAGCTCCTGTCCTGTTTTCTCAGACTGCAAGACCTCTCCTCTGGCTACTGGGTGCTCGTGGTGCATTTTACTCGGAGAGAGGCCATCAAGCAGATCGAGGTGCTGCAGCACGTGGCCACCAACCTGGGGCGCAGTGAGTAGTCACAAGGAGACGCTGGGGAAGGGACCAGCTCCACCTTCGGTGGGTAGCTTGGGGCTCTGTCCCAGGTTTACCCTCAGGGTCAGCCCTGGGAGGCAAATTACCTGGTGGTGTCCAGTAGCAGTGGGGTGTTAAAATGCCAGCACCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGAGGGAGGATGGCTTGAGGCCAGGAGTTTAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTACAAAAATTTAAATATTACATGGATGTCTTGGTACACACCTATAGTCCCAGCTACTCAGGGGCTGAGGTGGGAGGATGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGGCATGACCACAGCATTGCACTCCAGCCTGGAAGAAAGAGTGAGACCCCATCTCTAAAGATTTAGGAAAATGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAACACTTTGGGAGGGTAAGGCAGGAGGATCCCTTGAGCCCAGGAATTTAAGGCTGTATTGAGCTGTGATCACACCACTATACTCCAGCCTGGGTGACAGAGTCTCTGTCTCAAAAAATAAAATAATAGTAATAAATAATAAATTTATAAAATGCCAGCCCCCTCCATGAGGCCTCTTTTCTCCCCACATATGATGGTTTTTTGGCACAGCAGTGATGGGGAGAAAGAGGGCGAGCTGCCAGCGAGAGCTGGACTCTTATGGAATCCCAGCCTGAGCACGTGCTATGGAGTCTGGTTTCTCTCCCTGAGCTGGGATCACTGTTAGCCTACAGGATCAGTGCAGAGTCCTGGCGTTTCTTGACCTGTCTGAAGTGTGCAGTCTGCCCTCTTTATCAGAATTTCCTGGCCAGCTACATGCTGAGGTCTGACTAGGAAAATAAAGCACTCAGGGGTTATGGTACCCCACCAAGCACAAAGGCCACTGAAGTGCCTGGTCCCATTACCTGCTCTTTCTTTCCTTTCTGCGCTTGCTTGGCAAATAAAAGCCAGCAGTCTGAGAGGCCTTCCTGCCGGTTACTCCTGCCTTTGTTTGCAGGCCGTGCCTGGCTGTACCTGGCCCTCAACGAGAACTCCTTGGAGAGCTACCTGCGGTTGTTCCAGGAGAACCTGGGCCTGCTGCATAAGTACTACGTCAAGTGAGTGTCTGGGACGGTCTGTCTCCCCTAGCCTCAGAGCTCCCTTTCAGCTACCTCCCAAAGGCTCTTGTCATGCAGACAGCACAGTGTGCCACATCAGTGATGCCAGAGAGCCATTAGAACCTTGCCAGTAGCTGGGTAGCCTTCACCAGGAGCACCGGTGTCCCATCTGGGCTCCTGGGTACAGTCTGGGTCTCTGCTGCTCCCTGGTCCTCCTCCCAGGCTTCAGACCTGACCAGTGCCCATGCTTTGGCTCAGCCTTTGCTGGGGTTGCTGCAGGAACA
CCACCCGCCTTGGCTTCCCGAAGTGCTGGGATTACAGGTGTGAGCCACCACACCCGGCCCTGTTTTGGTTTTTTAATTAGAACATTGCACTAGATCTCTAAGGATGCTTCCAGCTGTAACATCTGTCTATAGGCTCTCTGATCTCAGATTTACTCAGATTTTGAAATTAAAAAAAAAAAAAAAAAAAAAGCTCTACCCCAGTGTGGTCGTACTTAATACTGAAGTGTGCAGTAATGTTTCCAGCTGTTGCTGAGAGGGATTATGCAGTTTTTGCAGGCTTATTCCTCTTTCTTTCAGCTCTAGAAATCTTTCCTTCTGGTGCTCTGATTTGCCTGCCTCTGGGAGGAAGGGAAGGGAAGACCCTGCAGGACTGAGGTTTGTCCTGGCTGACAGGCCTGCCAGGCTTGTTCCGGGCTGCAGAGAAGAGAGGCTATTTTTGTTGTGGGAGCTGAATTGTTGGTCTCTCTCCAGGAGCACATGCTTGTTGGTGTGGTTGATGTATCTTGCCTGCTGTGGCCATCTCTACCACTGCTTCCAGAAAACACTTGAGAATACGTTTGTCCCAAGAGGTTAAACCTGAGATCAGGATCAGGCATCTGTGCTCTTGTCTTGTGTTCCACTCCCTTCTGGCCATTGGAAGGGCAGTAGCAGAACAGGATATGGCTAACATGAACTTGGAGAGACTTTTCTCCTAGAGCTGTGCTTGAAAGGGGCCCTCTCTCTGTAACTGCGGTTGCAGTGAACTCAGTCCAATATCTGGGCTTTCTTGTCCTTCAGTAGGCTGATGGAGCTGCCCTTGCCCTCACCAGCCTGGTGGGGTTTGCACAGTGCTGCAGTTCATCTCACCTACTGTCCAAATCTCCTTTTATCAGCCCAGTCCAGGAACAGTGGTGTCCTTCTTGGTGTAGGGCTTAACGTGAGCCTTGCATGCACCTAGATCCATATCCAGCATTGCAGGCAATTCTAGTATTCCATGTCAAGAAGGCTGGCAAGAAGGCTGGTGGGGCAGGTGCCCCAGTCCATCGGCCCTTAGTATATGCAGAGGGTAGCTCCAAGTGGGGCCACTGTGATATGAAGGAGGATTGTTTGAATTCAGGAGATTGAGGCTGCAGCGAGCCGTGATCACACCACTGCACTCCAGCCTGCATGACAGAGTGAGACCCTGTCTCAAAACAAACAGGCCGGGCACAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACCTGAGGTCAGGAGCTTGAGACCAGCCTGGCCAACATGGCGAAACCTCGTCTCTACTAAAGATAAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCGAGATCATGCCACTGCCCTCCAGCCTGGGCGACAGAACAAGACTTTGTCTCAATAAAACAAACAACCAAAAAGAAAAGAAAAAAGATACTTTTCTAATATATGACTGGGAAAAATGGGAAACTATAAAGGAAAAGATGGACAGATTTGACTGCCTAAAAATTAAAACTTTCTCAATAGGGCAAAACAATAACATAAGCAAAGTTTAAAGGTCTGTTGACAATGGGAGGAAAATACGTCTAGCGCTCTCTGTATCAATGCCCCAACTCTGGGTTTGTGTGGCATTGGTCTAGACAGCACTGTACATAGTGCCCCTGAAGTTGTGCCATGCTGTGGCCCTGGCCTGAAGCTTGCCACCACTTGAGACCTATGCATGGACAGTGGATCCCTCCAGCCTCAAGTTGTCACTGTGCGGACTGCTGACTGGGTGCCTCTGGGGGACTGGGCTGTAAAGATACAGCTGTTGCCTGCTGGAACCTCCAGTGCCAGAGCAGCAGCTGGGACAGGGGTGGTTTGAGGTAGACGTCTCTGCTGGTCATTGTGGATACACCATTTGACTAATTTTTTTTAGCTACCTTCTTGATTCCAGAACTTTTGTAGCCTTCCTCTTAATCCATTTCTGATTTGGAGGTGTTTTTTTTTTTTCAGTTGCAGAGCTATTTTGCTGCATGTGAGGATGAGATCCCTGCCATCCGGAACCATGACAAGGTCCTACAGCGTCTGTGTGAGCACCTGGACCACGCCCTGCTGTACGGGTAAGGTGGAGGAAGTTTCCAAAGATGACGGAGCACAACCCAGGCCATGAGTAGCCTCCACAGAGAAACCCTTAGCCTCTCTGCCTTTTCTTTCTTCTCTCCCCTTGGCAGAAAGGGATTTGTCCCACTCAAGTGGGCCACAGTCTCTCTGTAGTTACCCCAGTAAATCATCTCTGGGCAGACATAAATGATGGAGGGAGGATTTGCCACAAATGATATGATGGTGTGAAGGTGTGCTGGGTGCCTGGGAGACCTGCTGGGGATCCATCACTTCCTGCCTTGCGCTCACTGCTGGACCAGCCGACTGCAGCTTCCCAGGGTGGCCCCATGCAGGTCACAGCAGCTCCTGTCCTGTTTTCTCAGACTGCAAGACCTCTCCTCTGGCTACTGGGTGCTCGTGGTGCATTTTACTCGGAGAGAGGCCATCAAGCAGATCGAGGTGCTGCAGCACGTGGCCACCAACCTGGGGCGCAGTGAGTAGTCACAAGGAGACGCTGGGGAAGGGACCAGCTCCACCTTCGGTGGGTAGCTTGGGGCTCTGTCCCAGGTTTACCCTCAGGGTCAGCCCTGGGAGGCAAATTACCTGGTGGTGTCCAGTAGCAGTGGGGTGTTAAAATGCCAGCACCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCTGAGGAGGGAGGATGGCTTGAGGCCAGGAGTTTAGACCAGCCTGGGCAACACAGTGAGACCCCATCTCTACAAAAATTTAAATATTACATGGATGTCTTGGTACACACCTATAGTCCCAGCTACTCAGGGGCTGAGGTGGGAGGATGGCTTGAGCCCCGGAGTTTGAGGCTGCAGTGAGGCATGACCACAGCATTGCACTCCAGCCTGGAAGAAAGAGTGAGACCCCATCTCTAAAGATTTAGGAAAATGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAACACTTTGGGAGGGTAAGGCAGGAGGATCCCTTGAGCCCAGGAATTTAAGGCTGTATTGAGCTGTGATCACACCACTATACTCCAGCCTGGGTGACAGAGTCTCTGTCTCAAAAAATAAAATAATAGTAATAAATAATAAATTTATAAAATGCCAGCCCCCTCCATGAGGCCTCTTTTCTCCCCACATATGATGGTTTTTTGGCACAGCAGTGATGGGGAGAAAGAGGGCGAGCTGCCAGCGAGAGCTGGACTCTTATGGAATCCCAGCCTGAGCACGTGCTATGGAGTCTGGTTTCTCTCCCTGAGCTGGGATCACTGTTAGCCTACAGGATCAGTGCAGAGTCCTGGCGTTTCTTGACCTGTCTGAAGTGTGCAGTCTGCCCTCTTTATCAGAATTTCCTGGCCAGCTACATGCTGAGGTCTGACTAGGAAAATAAAGCACTCAGGGGTTATGGTACCCCACCAAGCACAAAGGCCACTGAAGTGCCTGGTCCCATTACCTGCTCTTTCTTTCCTTTCTGCGCTTGCTTGGCAAATAAAAGCCAGCAGTCTGAGAGGCCTTCCTGCCGGTTACTCCTGCCTTTGTTTGCAGGCCGTGCCTGGCTGTACCTGGCCCTCAACGAGAACTCCTTGGAGAGCTACCTGCGGTTGTTCCAGGAGAACCTGGGCCTGCTGCATAAGTACTACGTCAAGTGAGTGTCTGGGACGGTCTGTCTCCCCTAGCCTCAGAGCTCCCTTTCAGCTACCTCCCAAAGGCTCTTGTCATGCAGACAGCACAGTGTGCCACATCAGTGATGCCAGAGAGCCATTAGAACCTTGCCAGTAGCTGGGTAGCCTTCACCAGGAGCACCGGTGTCCCATCTGGGCTCCTGGGTACAGTCTGGGTCTCTGCTGCTCCCTGGTCCTCCTCCCAGGCTTCAGACCTGACCAGTGCCCATGCTTTGGCTCAGCCTTTGCTGGGGTTGCTGCAGGAACAN
benign
3,541
For chromosome 1, position 15928646, gene SPEN (spen family transcriptional repressor): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Neurodevelopmental_abnormality', 'Radio-Tartaglia_syndrome']
GTTGAGTGCTATGAGCCAAGTGCTGTTGTAAGAGCTAGAGAAATTTTGGCCAAGAAGACAAAGCCTGTGCCTTTATGGGGCTTAAGTTCTAGTGTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCCAAGCTGGAGTGCAGCGGCACAATCTTGACTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTTCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGTCCGGCCAAGTTCTAGTGTTCTTTCAGCGAGCTACTAATGGCAGTGTTACCTAGAATGAGCCAGGTGTATCTACATGAGAGAACAAACATTGCGGAGAATGAATGAGTGAAGGAAGTAATTGGTCTCTGTTACAGGTGTATTTAATTTCATATAATATATGTTCTTGTGTGTAAATTTAATCCTATTTTGAATGCACCAGACAGGTCCCTGTGGGAGAAAACCTGTGGTGAGTTCCTTAAAACTGGAGGAGTTCTCTCATGGTGCTTGCAGTCATCCCTGGTTTGTTAGTTGGCAGCCTGGGGGAAAGTGACAACATTTACTGAGGCCAAGTACCTGCCTAGGATTATGTAGGAAAGTTTTTACAGATATTATCTTAATCTTTTTAACAGCTTTATGAGGAAAAGCTGCCATTTTATGAGTGAGGAGACTGAGTTCAGAGAGTTTAACCAGGTTCCAGTATTTTTTAAAAATTGTGAATTAGATAGAAGTGTTACCAGTATCATACAGGTCATATAGATGGCAAAATTTTAGTTAAAATTTTTATCTGTTTTTCTAAACAGTGGATTTATTTCCCAAGTTGTAAGAATATCTTTTTATAGAATAGTAATTTTGTGGGAGACTTAGGTAGGAGTGTGGGGATATTGTCCAGTAACTAGTGTCTGCTTTGTCACAACGCCGGAGTTACCAGAAACATTAAAAAAGGGTTGAATCACCACTGCCCAATAGAAGCATAATGTAAGTTATATAAATTCTGTATATGTAATTTTAAATTTTCTAGTAGCCACATTAAAAAGACAAAGTGAAATTTTCTTTAATATATCTAAAACGTTGTTTCAACATATAATCAGTCTAAATTGTTGTTTTTCTATAAACTAGGTCTACAAAATTGGCTGTGTATTTTACACATCTCAATTTAGCTAGATTTCAAGTGCCTAGTAGCTACTTGAAGCTATAGTGGATAGCTACTACAAACTAATCATTTCACAAATGATTAAATAATGTCAAAAGATTTTTTAGAAGCAGGAATTTCTGATTTCATATGTATGATTTTATGCATAAGTGATGAGGAAACAAAAGAACTAATATCTTTGTTATTTTTTGGCAGAGAGGAACGAAGGGCATCCTACGACTATAACCAAGATCGTACATATTATGAGAGTGTTCGAACTCCAGGCACTTATCCTGAGGATTCCAGGCGGGACTATCCAGCTCGAGGGAGAGAGTTTTATTCAGAATGGGAAACTTACCAAGGAGACTACTATGAATCACGATACTACGATGATCCTCGGGAATACAGGGATTACAGGAATGATCCTTATGAACAAGATATTAGGGAATATAGTTACAGGCAAAGGGAACGAGAAAGAGAACGTGAAAGATTTGAGTCTGACCGGGACAGAGACCATGAGAGGAGGCCGATTGAACGAAGTCAAAGTCCTGTTCACTTGCGACGTCCACAGAGTCCTGGAGCGTCTCCCTCTCAGGCAGAGAGGTTGCCGAGTGATTCTGAGAGGAGGCTTTACAGCCGATCCTCAGACCGGAGTGGAAGCTGTAGCTCACTCTCCCCTCCAAGATATGAGAAACTGGACAAGTCTCGTTTGGAGCGCTATACAAAAAATGAAAAGACAGATAAAGAACGAACTTTTGATCCGGAGAGAGTGGAGAGAGAGAGACGCTTAATACGGAAGGAAAAAGTGGAAAAGGACAAAACTGACAAGCAGAAACGCAAAGGAAAGGTTCACTCCCCTAGTTCTCAGTCTTCAGAAACGGACCAAGAAAATGAGCGAGAGCAAAGCCCTGAAAAGCCCAGGAGTTGTAATAAACTGAGCAGAGAGAAAGCTGACAAAGAGGGAATAGCGAAAAACCGCCTGGAACTCATGCCTTGCGTGGTTTTGACTCGAGTGAAAGAGAAAGAGGGAAAGGTCATTGACCACACTCCTGTGGAAAAGTTGAAAGCCAAGCTTGATAATGACACTGTCAAATCTTCTGCCCTGGACCAGAAACTTCAGGTCTCTCAGACGGAGCCTGCAAAATCTGACTTGTCTAAACTGGAATCAGTTAGAATGAAAGTACCAAAGGAAAAGGGGCTTTCAAGCCATGTTGAAGTGGTGGAGAAGGAAGGCAGGCTTAAAGCCAGGAAGCACCTCAAGCCTGAGCAGCCTGCAGATGGGGTAAGTGCTGTGGATCTGGAGAAGCTGGAAGCCAGGAAAAGGCGCTTTGCAGATTCCAATTTAAAAGCAGAAAAGCAAAAACCAGAGGTCAAGAAAAGCAGTCCAGAGATGGAGGATGCTCGCGTGCTTTCAAAAAAGCAGCCTGACGTGTCCTCTAGAGAGGTCATTCTGCTGAGGGAAGGAGAGGCTGAAAGAAAGCCTGTGAGGAAAGAAATTCTTAAAAGAGAATCTAAAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACT
GTTGAGTGCTATGAGCCAAGTGCTGTTGTAAGAGCTAGAGAAATTTTGGCCAAGAAGACAAAGCCTGTGCCTTTATGGGGCTTAAGTTCTAGTGTTCTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCGCCCAAGCTGGAGTGCAGCGGCACAATCTTGACTCACTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTTCCTCAGCCTCCCGAGTACCTGGGACTACAGGCGCCTGCCACCATGCCCGCCTAATTTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTAACCTCGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGTCCGGCCAAGTTCTAGTGTTCTTTCAGCGAGCTACTAATGGCAGTGTTACCTAGAATGAGCCAGGTGTATCTACATGAGAGAACAAACATTGCGGAGAATGAATGAGTGAAGGAAGTAATTGGTCTCTGTTACAGGTGTATTTAATTTCATATAATATATGTTCTTGTGTGTAAATTTAATCCTATTTTGAATGCACCAGACAGGTCCCTGTGGGAGAAAACCTGTGGTGAGTTCCTTAAAACTGGAGGAGTTCTCTCATGGTGCTTGCAGTCATCCCTGGTTTGTTAGTTGGCAGCCTGGGGGAAAGTGACAACATTTACTGAGGCCAAGTACCTGCCTAGGATTATGTAGGAAAGTTTTTACAGATATTATCTTAATCTTTTTAACAGCTTTATGAGGAAAAGCTGCCATTTTATGAGTGAGGAGACTGAGTTCAGAGAGTTTAACCAGGTTCCAGTATTTTTTAAAAATTGTGAATTAGATAGAAGTGTTACCAGTATCATACAGGTCATATAGATGGCAAAATTTTAGTTAAAATTTTTATCTGTTTTTCTAAACAGTGGATTTATTTCCCAAGTTGTAAGAATATCTTTTTATAGAATAGTAATTTTGTGGGAGACTTAGGTAGGAGTGTGGGGATATTGTCCAGTAACTAGTGTCTGCTTTGTCACAACGCCGGAGTTACCAGAAACATTAAAAAAGGGTTGAATCACCACTGCCCAATAGAAGCATAATGTAAGTTATATAAATTCTGTATATGTAATTTTAAATTTTCTAGTAGCCACATTAAAAAGACAAAGTGAAATTTTCTTTAATATATCTAAAACGTTGTTTCAACATATAATCAGTCTAAATTGTTGTTTTTCTATAAACTAGGTCTACAAAATTGGCTGTGTATTTTACACATCTCAATTTAGCTAGATTTCAAGTGCCTAGTAGCTACTTGAAGCTATAGTGGATAGCTACTACAAACTAATCATTTCACAAATGATTAAATAATGTCAAAAGATTTTTTAGAAGCAGGAATTTCTGATTTCATATGTATGATTTTATGCATAAGTGATGAGGAAACAAAAGAACTAATATCTTTGTTATTTTTTGGCAGAGAGGAACGAAGGGCATCCTACGACTATAACCAAGATCGTACATATTATGAGAGTGTTCGAACTCCAGGCACTTATCCTGAGGATTCCAGGCGGGACTATCCAGCTCGAGGGAGAGAGTTTTATTCAGAATGGGAAACTTACCAAGGAGACTACTATGAATCACGATACTACGATGATCCTCGGGAATACAGGGATTACAGGAATGATCCTTATGAACAAGATATTAGGGAATATAGTTACAGGCAAAGGGAACGAGAAAGAGAACGTGAAAGATTTGAGTCTGACCGGGACAGAGACCATGAGAGGAGGCCGATTGAACGAAGTCAAAGTCCTGTTCACTTGCGACGTCCACAGAGTCCTGGAGCGTCTCCCTCTCAGGCAGAGAGGTTGCCGAGTGATTCTGAGAGGAGGCTTTACAGCCGATCCTCAGACCGGAGTGGAAGCTGTAGCTCACTCTCCCCTCCAAGATATGAGAAACTGGACAAGTCTCGTTTGGAGCGCTATACAAAAAATGAAAAGACAGATAAAGAACGAACTTTTGATCCGGAGAGAGTGGAGAGAGAGAGAGACGCTTAATACGGAAGGAAAAAGTGGAAAAGGACAAAACTGACAAGCAGAAACGCAAAGGAAAGGTTCACTCCCCTAGTTCTCAGTCTTCAGAAACGGACCAAGAAAATGAGCGAGAGCAAAGCCCTGAAAAGCCCAGGAGTTGTAATAAACTGAGCAGAGAGAAAGCTGACAAAGAGGGAATAGCGAAAAACCGCCTGGAACTCATGCCTTGCGTGGTTTTGACTCGAGTGAAAGAGAAAGAGGGAAAGGTCATTGACCACACTCCTGTGGAAAAGTTGAAAGCCAAGCTTGATAATGACACTGTCAAATCTTCTGCCCTGGACCAGAAACTTCAGGTCTCTCAGACGGAGCCTGCAAAATCTGACTTGTCTAAACTGGAATCAGTTAGAATGAAAGTACCAAAGGAAAAGGGGCTTTCAAGCCATGTTGAAGTGGTGGAGAAGGAAGGCAGGCTTAAAGCCAGGAAGCACCTCAAGCCTGAGCAGCCTGCAGATGGGGTAAGTGCTGTGGATCTGGAGAAGCTGGAAGCCAGGAAAAGGCGCTTTGCAGATTCCAATTTAAAAGCAGAAAAGCAAAAACCAGAGGTCAAGAAAAGCAGTCCAGAGATGGAGGATGCTCGCGTGCTTTCAAAAAAGCAGCCTGACGTGTCCTCTAGAGAGGTCATTCTGCTGAGGGAAGGAGAGGCTGAAAGAAAGCCTGTGAGGAAAGAAATTCTTAAAAGAGAATCTAAAAAAATCAAACTGGACAGACTTAATACTGTTGCCAGCCCCAAAGACTGTCAGGAGCTTGCCAGTATTTCTGTTGGGTCTGGCTCAAGGCCCAGCTCAGACCTACAAGCAAGACTGGGAGAACTAGCAGGTGAATCTGTGGAAAATCAAGAAGTCCAATCAAAAAAGCCCATTCCCTCAAAACCACAGCTCAAACAGCTGCAGGTATTAGATGATCAAGGACCAGAGAGAGAAGACGTTAGGAAAAACTATTGCAGTCTTCGTGATGAAACACCTGAACGTAAATCAGGCCAAGAGAAATCACATTCAGTAAATACTGAAGAAAAAATTGGCATTGACATCGATCACACGCAGAGTTACCGAAAACAAATGGAACAGAGTCGTAGGAAACAGCAGATGGAAATGGAAATAGCCAAGTCTGAGAAGTTTGGCAGTCCTAAAAAAGATGTAGATGAATATGAAAGACGTAGCCTCGTTCACGAGGTAGGCAAACCCCCTCAAGATGTCACTGATGACTCTCCTCCTAGCAAAAAGAAAAGGATGGATCATGTCGATTTTGATATCTGCACCAAGCGAGAACGGAATTACAGAAGTTCACGCCAAATCAGCGAAGATTCTGAAAGGACTGGTGGTTCTCCCAGTGTCCGACATGGTTCCTTCCATGAAGATGAGGATCCCATAGGCTCCCCTAGGCTACTGTCAGTAAAAGGGTCTCCTAAAGTAGATGAAAAAGTCCTCCCCTATTCTAACATAACAGTCAGGGAAGAGTCTTTAAAATTTAATCCTTATGATTCTAGCAGGAGAGAACAGATGGCAGATATGGCCAAAATAAAACTATCTGTCTTGAATTCTGAAGATGAACTAAATCGTTGGGACTCTCAGATGAAACAGGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGA
pathogenic
3,595
Variant in gene SPEN (spen family transcriptional repressor), located at chromosome 1 position 15932326: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Encephalopathy', 'Radio-Tartaglia_syndrome']
GGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTG
GGATGCTGGCAGATTTGATGTGAGTTTCCCAAACAGCATAATTAAGAGAGATAGCCTTCGAAAAAGGTCTGTACGAGATCTGGAACCTGGTGAGGTGCCTTCTGATTCTGACGAAGATGGTGAACACAAATCCCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGACCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGNN
pathogenic
3,605
Determine whether the variant at chromosome 1, position 15932458, in gene SPEN (spen family transcriptional repressor) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Radio-Tartaglia_syndrome']
CCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCC
CCACTCACCCAGAGCCTCTGCATTATATGAAAGTTCTCGATTGTCTTTTTTATTGAGGGACAGAGAAGACAAGCTACGTGAGCGAGATGAAAGACTCTCTAGTTCTTTAGAAAGGAACAAATTTTACTCTTTTGCATTGGATAAGACAATCACACCAGACACTAAAGCTTTGCTTGAAAGAGCTAAATCCCTCTCTTCATCTCGTGAAGAAAATTGGTCTTTTCTTGATTGGGACTCCCGATTTGCAAATTTTCGAAACAACAAAGATAAAGAAAAGGTTGACTCTGCTCCAAGACCTATTCCATCCTGGTACATGAAAAAGAAGAAAATTAGGACTGATTCAGAAGGGAAAATGGATGATAAGAAAGAGGACCATAAAGAAGAAGAGCAAGAGAGGCAGGAATTGTTTGCTTCTCGTTTTTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCNNNNN
pathogenic
3,606
Mutation found at chromosome 1 position 15932878, gene SPEN (spen family transcriptional repressor): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Inborn_genetic_diseases']
TTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCC
TTTACACAGCTCAATCTTTGAACAAGATTCCAAGCGATTGCAGCATCTAGAGAGAAAAGAGGAAGATTCTGACTTCATTTCTGGTAGGATCTATGGGAAGCAGACATCTGAGGGAGCAAACAGCACAACTGATTCCATTCAAGAACCAGTAGTTCTGTTCCATAGCAGATTTATGGAGCTCACACGGATGCAACAGAAAGAAAAAGAAAAAGACCAGAAACCCAAAGAGGTTGAGAAACAGGAAGATACAGAGAATCATCCCAAGACCCCAGAATCTGCTCCTGAGAATAAAGATTCAGAACTGAAAACTCCACCTTCCGTTGGGCCTCCAAGTGTCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCCNN
pathogenic
3,607
Is the chromosome 1, position 15933213 variant in SPEN (spen family transcriptional repressor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Inborn_genetic_diseases', 'Radio-Tartaglia_syndrome']
TCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCTTGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCCTCTCCTGTGATTTCGTCTGTGAAGGCCGATAGGCCATCCTTGGAGAAGCCCGAGCCCATTCACCTCTCGGTGTCCACGCCTGTCACCCAGGGAGGCACAGTGAAGGTTCTCACCCAGGGGATCAACACACCCCCTGTGCTGGTTCACAACCAGCTGGTCCTCACCCCAAGCATTGTCACCACAAACAAGAAGCTTGCTGACCCCGTCACCCTTAAAATCGAGACCAAGGTCCTTCAGCCGGCCAACCTGGGGTCCACGCTCACGCCCCACCACCCTCCTGCTCTGCCCAGCAAACTGCCTACAGAAGTCAACCATGTCCCCTCGGGGCCCAGCAT
TCACAGTCGTAACTCTAGAATCAGCCCCATCAGCACTAGAGAAGACCACTGGTGACAAAACGGTAGAGGCGCCTTTGGTAACAGAAGAGAAGACTGTGGAGCCAGCTACCGTCTCAGAAGAAGCAAAGCCTGCATCTGAACCTGCTCCTGCCCCTGTGGAACAGCTGGAACAAGTAGACCTGCCCCCAGGAGCAGACCCCGATAAAGAAGCTGCCATGATGCCTGCGGGTGTTGAGGAAGGTTCATCAGGTGACCAGCCGCCTTATCTGGATGCCAAGCCTCCAACTCCCGGGGCCTCGTTTTCCCAGGCAGAGAGCAACGTAGATCCAGAGCCTGACAGTACCCAGCCACTTTCAAAACCAGCTCAGAAGTCTGAGGAAGCCAATGAGCCAAAGGCCGAAAAGCCAGACGCCACTGCAGATGCTGAGCCTGATGCAAACCAGAAAGCCGAAGCTGCTCCTGAGTCTCAGCCCCCAGCTTCTGAAGATTTAGAGGTTGATCCTCCAGTTGCTGCAAAGGATAAAAAGCCAAACAAAAGCAAGCGTTCAAAGACCCCTGTTCAGGCAGCTGCAGTGAGTATCGTGGAGAAGCCCGTCACAAGGAAGAGTGAGAGGATAGACCGGGAAAAACTCAAGCGGTCCAATTCTCCTCGGGGAGAAGCACAGAAGCTTTTGGAATTGAAGATGGAGGCAGAGAAGATTACAAGGACTGCTTCTAAAAACTCTGCTGCAGACCTTGAACATCCCGAACCAAGTTTGCCTCTCAGCCGAACAAGGCGCCGGAATGTAAGGAGCGTCTATGCAACCATGGGTGACCATGAAAACCGCTCTCCTGTCAAAGAGCCCGTTGAGCAACCAAGAGTGACCAGAAAGAGATTGGAGCGAGAGCTTCAGGAGGCTGCAGCGGTTCCCACCACCCCTCGGAGGGGAAGGCCTCCAAAGACACGCCGGCGAGCCGATGAAGAGGAGGAGAACGAGGCCAAGGAACCTGCAGAAACACTCAAGCCACCTGAGGGATGGCGGTCGCCAAGGTCCCAGAAAACTGCAGCTGGTGGTGGACCCCAAGGGAAAAAGGGAAAAAATGAACCGAAGGTGGATGCTACACGTCCTGAGGCCACCACTGAGGTGGGCCCCCAAATAGGCGTGAAAGAGAGCTCCATGGAACCCAAGGCTGCTGAGGAGGAGGCAGGGAGTGAACAGAAACGTGACAGAAAAGATGCTGGCACAGACAAAAACCCCCCTGAAACCGCCCCTGTTGAAGTTGTAGAGAAAAAACCGGCCCCTGAAAAAAACTCCAAATCAAAGAGAGGAAGATCTCGAAACTCCAGGTTAGCAGTGGACAAATCTGCAAGTCTGAAAAATGTGGATGCTGCTGTCAGTCCCAGGGGGGCTGCAGCACAGGCAGGGGAGAGGGAATCTGGGGTGGTGGCAGTCTCCCCTGAGAAAAGTGAGAGTCCCCAAAAGGAGGATGGTTTATCATCCCAGTTGAAAAGTGATCCAGTTGATCCAGACAAGGAACCAGAGAAAGAAGACGTGTCTGCCTCTGGGCCGTCCCCAGAAGCCACCCAGTTAGCCAAGCAGATGGAGCTGGAGCAGGCCGTGGAACACATCGCAAAGCTCGCTGAGGCCTCTGCCTCTGCTGCCTATAAGGCAGATGCACCAGAGGGCCTTGCCCCAGAGGACAGGGACAAGCCTGCACACCAAGCAAGTGAAACAGAGCTGGCTGCGGCCATCGGCTCCATCATCAATGACATTTCTGGGGAGCCAGAAAACTTCCCAGCACCTCCACCTTATCCTGGAGAATCCCAGACAGATCTGCAACCCCCCGCAGGTGCACAGGCGCTGCAGCCTTCTGAGGAAGGAATGGAGACAGATGAGGCTGTATCTGGCATCCTGGAAACTGAGGCTGCTACAGAATCTTCTAGGCCTCCAGTCAATGCTCCTGACCCCTCAGCCGGCCCAACAGATACCAAGGAAGCCAGAGGAAATAGCAGTGAAACCTCACACTCAGTGCCAGAAGCCAAAGGGTCTAAAGAAGTGGAAGTCACTCGTTCGGAAAGACAAAGGGCGCCAGAAAACAACCCGATCACGCCGCAAGCGAAACACAAACAAGAAAGTGGTGGCTCCTGTAGAGAGCCATGTCCCTGAATCCAACCAAGCTCAAGGTGAGAGTCCTGCTGCAAATGAGGGGACAACAGTACAGCACCCCGAAGCCCCACAGGAAGAAAAGCAGAGTGAGAAACCCCATTCCACTCCTCCTCAGTCATGTACTTCTGACCTAAGCAAGATTCCCTCCACAGAGAATTCGTCCCAAGAAATCAGTGTTGAGGAAAGGACTCCAACCAAAGCATCTGTGCCCCCAGACCTTCCCCCACCTCCCCAGCCAGCACCGGTGGATGAGGAGCCTCAAGCCAGGTTCAGGGTGCATTCCATCATTGAAAGTGACCCGGTGACCCCACCCAGCGATCCAAGCATCCCCATACCCACACTGCCTTCTGTAACTGCAGCAAAGCTCTCACCTCCTGTCGCCTCTGGGGGGATCCCACACCAGAGCCCCCCTACTAAGGTGACAGAGTGGATCACAAGGCAGGAGGAGCCACGGGCTCAGTCTACTCCATCTCCAGCTCTTCCCCCAGACACAAAGGCCTCTGATGTTGACACCAGCTCCAGCACCCTGAGGAAGATTCTCATGGACCCCAAGTATGTGTCTGCCACAAGTGTCACTTCCACAAGTGTCACCACAGCCATTGCAGAGCCTGTCAGTGCTGCCCCTTGCCTACATGAGGCCCCGCCCCCGCCAGTTGACTCTAAAAAGCCTTTAGAAGAAAAAACAGCACCTCCAGTGACAAACAACTCTGAGATACAAGCCTCGGAGGTGCTGGTAGCTGCTGACAAGGAAAAGGTGGCTCCAGTCATTGCTCCCAAAATTACCTCTGTTATTAGCCGGATGCCTGTCAGCATTGACCTGGAAAATTCACAGAAGATAACCTTGGCAAAACCAGCTCCTCAAACCCTCACTGGTCTGGTGAGCGCACTCACTGGCCTGGTGAACGTCTCCCTGGTCCCGGTGAATGCCCTGAAAGGCCCCGTGAAGGGCTCAGTGACCACACTGAAAAGTTTGGTGAGCACCCCTGCTGGGCCCGTGAACGTCCTGAAAGGGCCTGTGAATGTTCTTACGGGGCCAGTGAATGTTCTCACCACTCCAGTGAACGCCACGGTGGGCACAGTGAATGCCGCCCCAGGCACAGTCAATGCCGCTGCGAGTGCAGTGAATGCCACAGCAAGTGCAGTGACCGTCACAGCGGGTGCGGTTACTGCTGCATCTGGTGGTGTAACGGCCACAACAGGCACGGTGACAATGGCAGGGGCAGTGATTGCGCCGTCAACAAAGTGCAAACAGAGAGCGAGTGCTAATGAAAACAGTCGGTTCCACCCAGGGTCCATGCCTGTGATCGACGATCGTCCGGCAGACGCGGGCTCAGGGGCGGGGCTGCGTGTGAACACTTCTGAAGGGGTTGTGCTCCTGAGTTACTCAGGGCAGAAGACCGAAGGCCCACAGCGGATCAGCGCCAAGATCAGCCAGATCCCCCCGGCCAGTGCAATGGACATTGAATTTCAGCAGTCAGTGTCCAAGTCCCAGGTCAAACCTGATTCTGTCACAGCATCGCAGCCTCCATCCAAAGGCCCTCAAGCTCCTGCAGGCTATGCGAACGTGGCCACCCATTCCACGTTGGTACTGACCGCCCAGACATATAATGCCTCTCCTGTGATTTCGTCTGTGAAGGCCGATAGGCCATCCTTGGAGAAGCCCGAGCCCATTCACCTCTCGGTGTCCACGCCTGTCACCCAGGGAGGCACAGTGAAGGTTCTCACCCAGGGGATCAACACACCCCCTGTGCTGGTTCACAACCAGCTGGTCCTCACCCCAAGCATTGTCACCACAAACAAGAAGCTTGCTGACCCCGTCACCCTTAAAATCGAGACCAAGGTCCTTCAGCCGGCCAACCTGGGGTCCACGCTCACGCCCCACCACCCTCCTGCTCTGCCCAGCAAACTGCCTACAGAAGTCAACCATGTCCCCTCGGGGCCCAGCATNN
pathogenic
3,609
Regarding the variant found on chromosome 1 at position 16044506 in gene CLCNKB (chloride voltage-gated channel Kb): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
GATGAAGGTGGGCTCGGGTTCATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAG
GATGAAGGTGGGCTCGGGTTCATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACA
pathogenic
3,705
Mutation found at chromosome 1 position 16044527, gene CLCNKB (chloride voltage-gated channel Kb): benign or pathogenic? If pathogenic, indicate the relevant disease(s).
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
ATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCAGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCT
ATGCAGAGCGGCAACCCCCATCCCACCTCCCACAACACACACCTTCAATTTTGATTTGACTTGCCTGGCATCTAGGGGCAAAGGGTGGCCCAGGGTCCCAGATTTTAACAATCATCCAAGGGCCATCATGTTATTCAGAGAGTGGCTTTGTCTGGGTAGGACTGGAGGCAATTGCCCCCAACATCTTGCCCCAAAGTGGCATCAGACACAACTCTTCTGTTCTGTGCCCAAACCATTGCCCTGGTTCAGCCTCAGGAGCTGGAGGAGCTTTGGGCAGGGGAAGAGCTGCACAGTGTGGGGCTGGGTTCAGCCTCTGCTGTGTGACCTTGGATGAGTGACTCACCTCTCTGACCATCTACAAAATGGCGAGGCTCTCCCCATTCACAGGGTGTGGGGAGGAGGACTTGAGCTGCGGATGTGACGCTTCTGACACGTTGCAGGCACACGGCACGTGCTTGTTCCTCGCCATGTCCCCTCACACCTGTGCTGCCATCCTCTGTTGGGGTGGGACAAACTCTGTGGAATTACCCAGAAGTCCCCACCAGAGCCGCTGGCCCTTGGACGTGTGCTTTGAGAGGCATTTCCTGAGCCTGGAGGGTCTGGACACAGGATCAAGTCTGAGTTCCTGACCCCAATTCACTGCCTTGCCCCAGGTGTCGGCCTCCTCGCCAGCCCTGGACAAGATGGGTCATCAGGATGGGACCGTGTGGCACAGCCTGCGGGCTTTGGAGCCAGGCAAACCTGGGCTGGGAATCCTGGCGCTGCCTCGGCCTCCGTGATCTTAGACGGGCAGCCCCACCTCCCTGAGACACCATTTCTCTACAACGGGATCACGCTGCCTGCCTCGTGGGATTTCCGTGGGCACTCAGGGTAATTAATCTAGGGGAAGGCTGACTCTCTACCTGGCACACAGGGAGGCTGTGGTCATGCTGGCCCCACTCACCTTTGCCGGCCTGCTTTCTCCTTCTCTGCCCAGCCTCCTCCCCTCTCCCTCTGTGCTTTTCCAAACCTTCCATGTCCAGCTCTGAGACCCCTGGACCCTGAGCCTCAGCCTTGGCAGATGACCCCTCTCTGTCCTGCTGTGTGCGTGAGCTCCCCCTTCCCAGCCCCCGTCCAGCAGCACCCAGGAGCCTGAGTACAGCTGGGCACCACCCTCTGTGCAGCTATGGTGGGTGGGGAGGCTCCTGTTCCCCTCCCTGTTGGCAGCTCTGCTCTGCTCTGCTCCGGCCTGGGCAGTTCTGATCGGTTTTCAAGGACATTCTAAGTGTTCGCCATAAACCCTGGGCCCAGGCGGGAAAGGGGGGAGGATGTTGATTGTTGGAACACACACCTGTCCAGGTGCAGGGGAGCTGGAGGCTCTGTGAGAGGAGGGCCAGCTCAGCCACAGCAGGAGGACTGACAGGTGAGGGGTCGCTGCAAGATGCTGGGGCCTGCCAGGGCCAGACAGGCAGGGCGGGGGGGGGGGGGTGGTAAGGGCAGGAGCCAGCACCTCACTTTGGCCCTGGTGGGATCTTCTTCTGGGCCTGGGGTTTTGCTGCCTCTGTGGCCTGAGCTGGGGTCAGGGGTGCTCATAGGTGGACAGGGAGAGTCAGAGCCATCCATGGGACTCTGCAGTGAGAGTGTCACAGCCCTGGGCAGAGACTGCTCCCAGCAGTGGAAGCGCCAAGTGACCCAGGAGGGTGGGAGCGGCTGCCACCGAAGGGGAAGGGGCTCTGAGCAGGGCTTGGGCTCCGGCCTGTGCCCAGTCTGCTGCTGGACACAGGGGGACACCTAGGAATCCCACCCCCATCCCACACAATGACACACACAGGCACACACCCTCAGTGACGGAAACTCAGGGATGAAGGCACACACAGACCTAGTGTGATAACTTCACATACACACACACACACACACACACGCACAATCTTTCCTCTTCATGGGTGGGGAGAGCACTGGAAGGGCCTAGAGGCAGTGCGAGGACGTGCAGCAGCTCACCGCGGTCCCTCCCTCTATCCGCTTCTCCAGGGGCCTGATGGAGGAGTTTGTGGGGCTGCGTGAAGGCTCCTCGGGAACCCTGTGACTCTGCAGGAGCTGTGGGGCCCCTGTCCCCGCATCCGCCGAGGCATCCGAGGTGAGAGCCAGGTCCTCTTCCCTTCCCCCTGGAGGACCACTCAGGACATCATTCCTGCCCAGCTCCCACCCCACCTCCCTGCCCAGGAACCACCCTCCTCCTGGCATTTGTCCAGGACATGACTGCCCAAAGTCTCCTGGGTGGCAGGGAGGGAAGGGGTCTGTCTGTCCAGCTGTCTGTGGGTCAGATGGGCCGGGCATCTGCCCTCTGCCTTTCGGGAGATACAGCCCAAGGCCTGGTCACTGTGCCCATCTTCCACCCAGGCCTCTCCCTCACCTACCTGTGCCAATGAGGGGACGTGGGGGTTAGCTGCTGGGACAGCTGGGGCCACAGCAAGGGGCTGGGGCAGCCTACACTTGGCACCTTTCCTTGGAGCCCCATGTGCTTTGTTCACTTTGAGACCTGACTGTCCCCTCAGCTACGGGGCAGAGCAAGTAGGGACCACAGAAGGAGGCTGACTGCAACCCCAGGGGCTGGTGCCCACAGCCAGTGAGGGCCAGCTCCCAGGCTGGGCTAGCAGCCAGTGGGCCAGGAGCATTGCTGGGGACCCAGAGGATACCTGGCGCCACAGGTCCTGGGACACGCAGGAGTCTGCTAGATCCTGGTGCTCTCTAAGCTATGGACTCTGCGGGGATGCAGGTGAAAGCTGTAGCTGCCAGCCCCCTCCATACTCCCTGTCCCCCAGGAACCTCCCAGTACAGGCAGGGATGCGGAGGGTCGGCAGGTCAACGGCTTTCTGGTAGGGGCAGCAGTCCTGGCACCCACTGTGTCACCACTGTCACCTCCCACAAATCCTGCCCGGCCACTTATGTGAGGCAGGGCCCCCTCGGGACTACCCCAGAGTATACCACCAAGCTCCATCCCCCTGCCCCAGCCTCTCTGCCTGAAGCCCAGCAGGCCTCCAAGGATGGGACTGTCTGTGCCTCCTGCCCCACCCTGTGCCGTGACCCCATGCCCTGCCCCAGGTGGCCTGGAGTGGCTGAAGCAGAAGCTCTTCCGCCTGGGCGAGGACTGGTACTTCCTGATGACCCTCGGGGTGCTCATGGCCCTGGTCAGCTGTGCCATGGACTTGGCTGTTGAGAGTGTGGTCCGAGGTAACCCCTCCATGGCAGGTGCTGCTCTGGGCCAAGGGATTCTGAGCTCTCTCTGGGGATGCCAGGTGGATGTCGCCAGGTGCAGCGGAGGTTGGGGGGGGTGCTCTGGGTGGGGATCTGGTCCTGGCTTTACTCCTGACTTGCTCTGTGATCCTGGGCAGGCTCCTGCCCCTCTCTGGGCCTCAGTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTN
pathogenic
3,706
The mutation impacting CLCNKB on chromosome 1 at position 16047920: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic
GTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACC
GTCATCTCATTTGCACAAGGGAGAGAGGCCTGAATGTTCCCAAGAGCTCTTCCTCCTCTGAGCTCTCTGCCTCCTCTTCCAGCCACCCTGTTTCTTCTCCTTCCCTCCTCCATGCCCTGGGGCAGAGTGGGGGCACTTCCCTATAACACTAAGCTTGGTGCTTCCTCCCCATCCCACCCCATCCCTCAGCAGCCTGCCTCCACCCTGAGGCCTCCCTGGAAGAGGGGGTGTGGGCAGGAAGGGTCTAAGACACTTTCTCTGGAGACCCTCAGCTGCCAGAAGCAGCACCTACTATGGTGTTACGGTGTTTGGTGCTTCACACCTGTGTCATGTAGTTCTCAGTGGCCCTTTAGTCTTTAACGTCTTTAGTCTTCAATGAGCCTGTGAGGAAGAGCCCATCACGAGCCCACTTGGCAGATGGGGAAACTGAGGCTCAGAGAGGCTGAGTGGCTTGCCCAAGGTCACTCAGCTAGGCAGTGGTAAACCTGGGATATGGACCCAGGGTCGTACTCCTGCCTCTTCTTGGGGGTCTGCACCTCACTGTGTGGCCTGGTCCTCCCCTCTTCGTGACTCCATTTCCTGGTCAGTAAGTGGGCACCACAGCGTCTGGCCCCGAGGGCTGCAGAGGCTGTGGGTGCCTCCCTGATACCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCN
pathogenic
3,726
Considering the variant on chromosome 1, location 16048568, involving gene CLCNKB, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
CCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAG
CCCGGCTGTCCCCAGCGCACCAGTGGCTGTACAGGGAGATTGGGGACAGCCACCTGCTCCGGTATCTCTCCTGGACTGTGTACCCTGTGGCCCTCGTCTCTTTCTCTTCAGGCTTCTCTCAGAGCATCACACCCTCCTCTGGAGGTGAGTCCACAGTCGCTACGCCAGTCCCCACTGGCCAAAACCTTCTCAGATCCCAGGGGGGAGTCGGGAAGGGGCAGCCTCATTTCACAGACAAAGGCCCAGGAAGAGTCATGTGGCTTGCCCAAAGGGACACAGCAAGAAGGCCAGATCTTGACTTTTGGGTCACTGCTGGCCCTACCTGCTTTCCAGGGGCTCCGCTGGGACTTGATGGGAGGCCTGGTGGGAGGATCTTCTGCGAAGCCTGTTCCAGTGGCCAGTGCCAGGGAGGGGCCAGTGGAGGAGGCACAGCTCCCCCAGGCCGCTCAGCCCTGCCTCCTGCTCCAGGCCAGCAGAGGGGAGCTCAAAGCTCACTCAGTGGTGGCCTGAGATTTCATCCGGGCTTCCCCTATCCTGCCACAGCCTTCTGCCAGGCCTGGCGGGAGGAACGTGAACAACTCACATTCCCTCTGTGATGCTCGGTGTCCAAATCTGCTAAATGAGTTTAAGGACCTTACCCTAGGCTGGGTGCAGTGACTCATGCCTGTAATCCCAGCACTTTAGGAGGCTGAGGCAGGAGGATCACTTGTGCCTAGAGTTTGAGACCAGCCTGGGCAACACAGGGAGACCCTGTCTCTACAACAAATAGAAAAAAATCAGCTGGGCATGATTGCATGTGCCCGTGGTCCGAGCTACTCAGGAGGCTGAGGCGGGAGGACTGCTTGACCTGGGGAATTTGATCCTGCACTGAGCAGTGTTTGCACCACTGTACTCCAGTCTGGGGGATAGAGTGAGACCCCTGTCTGAAACAAACAAACAAACAAACAAACAAACAAACAAAGGAATCCTAACCCAGCTGGGCACACTGGCTCATACCTATAATCCCAGCACTTTGGGAGGCGGAAGTGGACAGATCGTTTGAGGTCAGGAGTTCTAGAGCAGCCCGGGCAACATAGCTAGACTCCATCTCTTTAGAAAAATAAGGTGGGCGAAGTGGTCTCCACCTATAGTCCCAGCTATTCAGGAGGCTGACGCAGGAGGATAACTTGAGCCCTGGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGGCGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAG
benign
3,738
The mutation in gene CLCNKB at chromosome 1, position 16049743—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
benign
GGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATC
GGCAACTGAGGCTGCTGTAAGCTATGATCCTACCACTGTACTCCAGCCTGGCCAACAGAGCAAGATCTTGTCCCCAAAGGAAAATAATCCTAACTTCAGAGGGTTCTGCTGATCTGGCGAGATCGTAATGTGAAAACATCACACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCN
benign
3,759
Gene CLCNKB variant at chromosome position 16049884 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Bartter_disease_type_3', 'Hematuria', 'Proteinuria']
CACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGA
CACAGGTAGAGTGTTGAGATTTTTAACCTAGAGATTGTCCCCCTCCTGGCCCTGCCCACCCCCGCCAAGGTTCTGGAATCCCGGAGGTGAAGACCATGTTGGCGGGTGTGGTCTTGGAGGACTACCTGGATATCAAGAACTTTGGGGCCAAAGTGGTGGGCCTCTCCTGCACCCTGGCCTGTGGCAGCACCCTCTTCCTCGGGAAAGTGGTATGGGCAGGGGTGAGGGCATCCCAACCACCCTACCCACCCCAGCCACCCCAGTCTCACCCCCATCACCCCACGAAAGCTGCGTCAGAGGGGACTTGGGCTGGTCCCTGCCTTCCAGGAACTCAGTCTTGGGGGAAGAGGCAGGCCAGGTCCCCGGAGTGTGACAAAAGCCATCTGAGGACGGCCGTGGGGGCTTGGGAGATGGAGGAGGGGGTGTTGGGGGGAAGCCGTGCTGACTCTGGGTGAGACCGTCTCTGCTGCCCTCACCTGGGCCCTGGGCCCACCCTTCTCTCTGCAGGGCCCTTTCGTGCACCTGTCTGTGATGATGGCTGCCTACCTGGGCCGTGTGCGCACCACGACCATCGGGGAGCCTGAGGTTAGGGACTCGGGGGCTTCCTTGGAGAAATGGGAGTGGGGAGGGAGGGGGCTGACTCTGAGCCCTGGACTCGGATCCCCCAGAACAAGAGCAAGCAAAACGAAATGCTGGTGGCAGCGGCGGCAGTGGGCGTGGCCACAGTCTTTGCAGCTCCCTTCAGCGGTGAGACCCCTTCATGCCCCGCCCCCTGGGTCCCTCAAGCTCCTCCCCTCACACCCTGGGCTCCTTCGGCCCAGCTGAGAGCCTGGAGGAGGGGGTGGGGCTCATTCTAGTTCTCACTTCAGCCCCGCCTTGGGCACAGCCACCGCCCCCCACCGGGGGGAGGGGGGGCGGGTGACTTGATTGGCGGTGCTAAGAGGCTTCAGTGTAACATTATACAGACTTGGGTTTGAAATCCACGTATGACCCTGGCCCGTTGGCCTCTCTGAGCCCGGCTTCCTCCTCTACAAAATGGAGATCGCAACCGTCCCCACCCGATAGCGAGAGGGCGCACACCCGCATTCCAGGCTGGACGGGTCTCTGGGCAGCGGGCTCCTCCCCGCCCAGGGCGCATGCCCTGCCCTCCCCTCCTGTCTGTCCCTGTCCGGGCTGCAGGAGAGCAGGACAGATGGGTCAGGGAGGAGGTGACATGGGGAGGGGGTCCTACAGTCACAGGTGGGTGGGGGTGGAGGGCCCACCTGAGATCAGTGTCGCCCCCAGGCGTCCTGTTCAGCATCGAGGTCATGTCTTCCCACTTCTCTGTCTGGGATTACTGGAGGGGCTTCTTTGCGGCCACCTGCGGGGCCTTCATGTTCCGGCTCCTGGCGGTCTTCAACAGCGAGCAGGGTGAGCCCCCTGGGCTGCCTGACCCTGGCCCTGCCTGGGGGCCGGGGCGAGGGGGCCCTCCCTTCTCCCCTGTGTACACCCCTTGCTCTTCCTTTCCCTCTCTCTCCCTCTTTTTCCTCTTCCTTGTTCCCACCTCCTTCTGGGAGGATGGAGGGGGCTGACCTGTGTTGAGCAAGAAGGGCAGGGGCCCTGAGGGTAGAAGGGATGAGGCTGGGCAGGGAGGCAGGAGCCTGGTTGTGGGGGCCTGGAATGCCAGGACACAGATTCCGAGTCAGGACCTGGCACCCCCTCCACCCTGGGCTGTTAGTCTGGGACTTGAGTTTGGGTCGGGTGGGAGCGCCATCTTGGCTCCCCACTGCCCTCCTTCCCCAGAGACCATCACCTCCCTCTACAAGACCAGTTTCCGGGTGGACGTTCCCTTCGACCTGCCTGAGATCTTCTTTTTTGTGGCGCTGGGGTGAGTGGGTGCCTTGGGCCCCTGAGAGTCCAAAAGGCATTCCCCCCAAGGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCA
pathogenic
3,763
Is the variant located on chromosome 1 at position 16051800, gene CLCNKB, benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
GGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGA
GGCCTGGACTGCGGCCCCTGGTACTGGGGTCGGGCTCTGGGCTCATGTCTCCATGCTCCCCAGGGGTCTCTGTGGCATCCTGGGCAGCGCTTACCTCTTCTGTCAGCGAATCTTCTTTGGCTTCATCAGGAACAATAGGTTCAGCTCCAAACTGCTGGCCACCAGGTAGGCTCCGGGCTAAGGGCTGGGGACCTCTCAGCGAGCTCCCCCCTCACCGTACTCCCAACCTTATGTAGAAAGCTCTACCCGCCACCTGAGCCCCTAAAGCCCATCCTAGCCCATGCCCCACATGTGGAGCCCCTAACACCACCTACAAGTCCCCACAGTCACTGCCCGACTACCTTACTGGCCTCAAACCTCCCCATTTAACCCCCATATCTCCTGGAGTCTATACCCCCTCAGTGAACCCCAACCCCCTCACTGACCTTTAACCCCCTGTTGGTCCCTCTCTCCCTTTAAACCATGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGAN
pathogenic
3,795
Gene CLCNKB variant at chromosome position 16052263 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
TGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTC
TGTGTGCCCATGGCATTGGCCAAGCCCTCCTGCCCCAGGTGCATGAGCCCTGCCCTAGCCTGGCCCCACTCTGTCCTCCCTCCCAGCCTGCCTGTGCCCCAATTCTCCTATCAGCCTCTACCCCTAAAAATACCCAGGAGTGTGGGGCTGACCCCACAGGTTCTGTCCCCTGGAGCTGGCCCAGTCCATGTCCCCCATTCCTGCTCTTCCTCCCCAGTCCTTGCCTTGCTAGGCCCTGCTTCCCTCTCCTTGGGATGTGGGAAAGGGAGGGCCAGCCCTAGAGCCCACCCATCCCCCACAGCAAGCCTGTGTACTCCGCTCTGGCCACCTTGGTTCTCGCCTCCATCACCTACCCACCCAGCGCCGGCCGCTTCCTAGCTTCTCGGGTAAGGGGCCTTGAGTGGGGTGGCAGGAGTGGGGAAGCCCTATTTGTTGCCTCCTTTGCGTGTATCTCACTTAATCCCCCCAATACCCCATAAGGGAGATGCCTCAGCATTATTTTATAGATGATACTACAGCTTCGGGAGGTCAGAGCCCTGCCCAAGGCCCCCCGCTGGGAAGTGGCAGAGGAGGATTCCAGGCGGGGTCAGGCGGTGCGGGGGAGGCTGGGGTCTGCCGCTGGGGGCCCCTCATGTCCAGTTCCCACCTGCCCCGCCACAGCTGTCCATGAAGCAGCATCTGGACTCGCTGTTCGACAACCACTCCTGGGCGCTGATGACCCAGAACTCCAGCCCACCCTGGCCCGAGGAGCTCGACCCCCAGCACCTGTGGTGGGAATGGTACCACCCGCGGTTCACCATCTTTGGGACCCTTGCCTTCTTCCTGGTTATGAAGGTGGGCCCCCTGGTCCCCAGGTGTGCACAGAGCTGGGACCAGCTCTGGTGGTGGTGGGGGGTACCTCATCGCAGCTGGTGGCATGGAGCCCAGGCCTTCCACCCACATTTCCTGATGTGCCCCCTGCCCATTGCATGGTCCTGGACAAGTGGCTTCAGCTCTCTGGGCCTCAGTCTTCTCATCTTTAAAATGGGGTGTTTACTGGGAAGGCTAAGGAGGAAGAAAGGAATGTACCTGGCACAGTGCCAGGGCATACAGTGGGCATTTCTCAGGGTGAGGACCCTCCCCTAATGCCAGACTCTGGCAGTGGGTGCATGGCCGGCACCCTCTTTCTCTCTAGGACACTCCCCTGTCCCATGTCCTGTCCTCCCTTGTCCACGCCTTGCCCAGCAGCCTCTAACCTCTGCCCTGGGCTCCCCACTCCCACAGTTCTGGATGCTGATTCTGGCCACCACCATCCCCATGCCTGCCGGGTACTTCATGCCCATCTTTGTCTATGGTGAGTCTGGGGTCCTGAGGTTCTGAGAGTTTCGGGGTTCTTGGGGCAGGACCATGGCTCCTGGTTCACCCTCCCCAGGTTGTACTGAGGACGGTCCTCAGGGATGGAGGGCTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCN
pathogenic
3,802
Evaluate the clinical significance of the mutation at chromosome 1, position 16053707 in gene CLCNKB: benign or pathogenic? What disease(s) does a pathogenic variant suggest?
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
CTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCCCTGCA
CTGTGGGGGCCGGGTCAGCCTGGCTCCCCCTCACCCTAAGTCTGTGGCCAGGAGCTGCTATCGGGCGCCTCTTTGGGGAGACTCTCTCTTTTATCTTCCCTGAGGGCATCGTGGCTGGAGGGATCACCAATCCCATCATGCCAGGGGGGTATGCTCTGGCAGGTGAGTGGGTCAGGGGCCTGCTGCGTGGGCAATGTCGTGCGGCTGGGCTGGACCTGGAGAATTGGCTGGTGGTTCCCCAGGGCACGGAGCAGTCACTGAGTCCTCCAGTGAACCCCCTACCCCTCATGGGGGTCTGTCCCTCCTGAGCCCCACCATTCCCCGGGGCCCATCACTCCCTCGTGGCTCCTGTCCCCAGCCCTGCGGCCTCCCTTATCCCTCTCCTCTCACCAAGCCCAGGCACTGGGCACTTCCCACAGTGCCCAGGCTGTGGCCTCTTACAAATCACACCTTAGCCCCTGGTCGCAGCCGTGCCAGCCTTGCCCTAACATGAGGCTGGCCCCTGGCCTGAGCTGCCCTGCCTGACTCTGCCCTTGCAGGGGCTGCAGCCTTCTCAGGGGCTGTGACCCACACCATCTCCACGGCGCTGCTGGCCTTCGAGGTGACCGGCCAGATAGTGCATGCACTGCCCGTGCTGATGGCGGTGCTGGCAGCCAACGCCATTGCACAGAGCTGCCAGCCCTCCTTCTATGATGGCACCGTCATTGTCAAGAAGCTGCCATACCTGCCACGGATTCTGGGCCGCAACATCGGGTGAGTGGTGCCCACCTCAGGCTGACTGAAGGGGGTCACAGTGTTTGGGAAGGGCTGGGGTGAAGGGCACCTCGAAAAAGAAACGCCACCGTAGCTGACCTCGGACATGGGGGCTGACACACAGCTGTGCTCTGTTCTCCACTCTCCCCAGTGCCCCGGGTGACCTTGGGCAAGTCCTTGGCCTTGAGGCCTCAGTGTCTGTCTAGGGGTCAGCTGGGCTTCACAGCAGGAGGATGAGTATTGCCCCGTGTACAGATTGAGGAAACCGGGGCTCAGAGAGGTGCCGTGTCTTGCTCCAGGTGACACAGAGAGTCAGCACCAGATCCGAGAGGTCTCCTCCCCTCTCCCCACTCCTGCTGTCCTTGCTGGGACTTTGGGAGCAGGAGGTGGAACGAGAATGGAAATGGGCTTTGAGGTCTTCACTCAACCAGATAGGACCAGAGCAGCTTCTGGCACCAGAAAAGCAGACCAAAGAGGCTCTGAGAGTCCCTGGGTCTGAGGCCCCGCTGAAAACACAAGCAAGCTGCTGCCTTGCTCTGAACCCGTTTCCCTATCTGGAAAATGGGGCTGCTTACCCCAGTGGTTTCCAGACTTTCAAGTTTTTTTCCCTGGGGGAGGCATATACTTTTTTTTTTTTGAGATGGAATCTCACTCTGTTTCACAGGCTGGAGTGCAGTGGCACAATCTCAGTCACTGCAACCTCAACCTCCCAGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCAAGTAGCTCAGACCAGGCATGTGCCACCATGCCCAGATTATTTTTGTAATTTTAGTGGAGACGGGGTTTCACCACGTCAGCCAGGCTAGTCTTGAATTCCTGGCATCAAGTGATCCACCTGGCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCGCATATACTTTTTACTCAAATTAAATCCTCCAGGGAAGGCTGCTGGGTAAAACAGGCTAAAGTGGAGCTGGTCTGGGGGACACGGGGGTCCAGGGGGCTGGGAATTCGCAACTGGGTCATCGGCGATGTGGTCCCCAGGTTTCCTCTCACCGTGGGTTCTAGGAGTCCCTCATTCCAGGAACCTCTCCGGCCCTGCCCACACTCCAGAGCCGTGGGTCCCCGGTTCAAGCAAAGCTCCCCACAGATCCCCCTGCCAGCCTGGGTCTCACATCCCTGACTGTGGGGCCTGATGGGAGCCCCTCTGCCTGCAGTTCCCACCGCGTGAGGGTGGAGCACTTCATGAACCACAGCATCACCACACTGGCCAAGGACATGCCACTGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCCCTGCAN
pathogenic
3,824
Does the variant on chromosome 1 at location 16055723 affecting gene CLCNKB have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Bartter_disease_type_3', 'Bartter_disease_type_4B']
CAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCCTGAAGCTGTCCCCAGAGACTTCCCTGCATGAGGTAACGGGGAGAACTGGGGAGTGTGACACATGAGGCCTCTGGGTGGGGGAAGAGCTGATGAGGAGCTCACGCTCCAGCCTCCCCTCCCAACCCCGCCCTGCCCGTCTTATGCTGCTTCCTGCTCCTCCTGGGCCAGTGTCCTCATCAGCAGACTGGGCAAAGAAGCTCCTGCCCTGTTGCCCCTCACTGCCAGGGTTGTGGGGATGATGCAGAGAGATGAGGGAAGTGGGAGAGTGGCAAATGTAAATCTCTGGGTGGAGAAAGACAGTGGAGTTGCACCAAGGCACACGTGCGCTTCAATTTCAGGTCCACCGCATTCTCCCTGTGTGATCTTGGACAAACGACTTAACCACTCAGGACAGAGCCTGGCACACGGGTTGGGGAGGGGCAGAGGCTGACAGGGGACCTGGAGATGGCCCCGCCCCCTCTGTGCTGCTGGAGGGTGCTGGATATTAGGTCCTGTTTACCTGCGGCCCCGCCCAGACCCTTGCATGGACTCTGGCATCCCCCAGTGGCCACATTGGACATTGCAGGCCTGGGTCTCTTGTCTCCCACACACATCAGGCCCCGCCCCTCTTCCTGGCTCAGAGGCGTGGTGGAGTGGGCTAGAGGGTGGGCTGGGCACCTTCTACCCTCCAGTGTTTCCTAACATCCCCCATCCAGGCACACAACCTCTTTGAGCTGTTGAACCTTCATTCCCTCTTTGTGACGTCGCGGGGCAGAGCTGTGGGCTGCGTGTCCTGGGTGGAGGTACCAGGGTCCCGGGGGCAGAGCAAAGCAGGGAACCTATGCCTGAGAAGACTGGGGAGGTGGGGAGGTGGGGTGGGGGGGACACCAGCATGCTCCCATCCAAACCTGGGGGGATTCAGAGGATACTGATGAGTCCCTCTTCTTGGCCCAGATTGGCCACTGGGCCTGGCTCCCCTACCTTGTTTTCTGGCCAGTGGCCAGCCTGCCCCTCTCGGCCTCAGTGATCCCATCTGTGCAATGGGGTGGCACAGGCTCTACTATTTACCCAGAAACCACCCTTAGGGGAACCAAAAATGCTGGAGCCCCCCTCACAACCTCCTCTACATCCCCCCGCACCTCCACCCCCTTTCTCTGTTCTAGATGAAGAAAGCAATTTCCAACCTGACAAATCCGCCAGCCCCAAAGTGAGCCGGCCCAGCAAGATGAAACAGGGCACCCCAGCTGACCTGGTACTGAGGTTGGGCTGAGACCCTGCTTCTCTTCCCCCATCACCACCTGCCCCTCCCTCCAGCCCAGCTCCATTCTTTGGCATAACAGGCAACTTTAACCTAGCCCAGAAGAGGATGGCTCATCCTGGGTGGGACGATGGCTCCTGCCTTGAAAGACAAAAATCCCACCTTGGGCAGAGCTGAGTGTGAGAAGATGGAAAACCAGTATCTGCCAGTTGCTCAGTGACTGGCCATCACATTAATGAATGATGAGATTGGAGTACACTGTCACCAAGGGCAGGCACAGATGCCTTCTGGGGTTGTCTGGTTCCCAGTGAGAGGCTCCTGAGAAAAATAAAGCTGGTTCCCAGAGCTGGTGTCCATCCCTCATCTCAGCTGCAAGGTTGCTGGTCTGGGACTGGAGCTCCTTACCTGCGCTGGCCCAGAGTGAGTTTCCCGTGGTCACGTGGGCACTGCAGGCTCGGGCCCCTGGGCTCCTCCTCATGCTCCATTTCTTGGCAGGGAGATGCCAGGGAGAGAGGGTCTCCCACCAGGTCTATGATGCTTGTCCTCATGGATAAGCAGGACCCTGTGTTGCTCAAGCCCTAGTCTCCTGCTTGGCTGGGCCACAGCTCATAAAGCCAGGACCCAAGTGTGGCTCCTTGGGGAGTCCACAGAGCCTTAGGCATCCTCCATGGGCCCTCTCTGGCTGGGTGGGAGCAGGTTGACCAGCTGTGTGAGCATTGGCAGTAGGGACCTTCCCTGACTCCCTCCGGACTCTGTCCAGGGGCCCAAGGTCACATCTTCCCCAGCAGAGACCAGGCCAAGGTCATC
CAGCATCACCACACTGGCCAAGGACATGCCACTGGAGGAGGTGGTCAAGGTTGTGACCTCCACAGACGTGGCCAAGTATCCCCTGGTGGAGAGCACAGGTGCCCAGCCGGAAGGGAGGAGGAAGTCGGGGGTAGGGGATGCCCTCTGCCTCCTTCTTGAACCTGTCAGGCAGACAGGATCTGCATCCAGGCTCTGTGACTTAGCAACCAACCGTGTGACCTTGGGCAAGTCACATCACCTGAGCCTCAGTTTCCTCATCAGTAAAATGGAAATCATGGCCACCCTCCCTTGGGGTGGTTGACATGTCTAAAGAGAGTCGGCCGGGTGCTTGTAAGGCAGTCCCTGGGCAGCTGCTGGGGTAGGAGCATGGGGACACCACCAGGGTCTTCCGGAAGCTTCCCTTCAGGCCTCCCTTTAAGCATTCCCCAGATGAGTCCCCTCCTCCAAATCCTTGTTGCCACAAGGAAAACATCTCTTTAGAGACAAAAGCATGGTGGCTCTTGTTAAAAGGCATGGAACTCACTTCTTGCAGAAACCTTAACTAGAGCGTCATTTCCTGTGGGTACAAGTCCAGTATCTGCATTTAGAAGATAAGGCGGGGTTGGGGGGTAACCCTGCTCACTCAAGGCTGCTGTCAGCCCATGTGTCCCCCTGTGCAAGTGAGACAAGCTGCACACCTGGCAAGCACACCACAGCTGGATTTTGGTCTCCACTTGCACTTTGGGCAGGCACCTTGTGCAGTGAGCAACCTGTACAACCATATGGGTCACCCCTATGCCCACCCCAAGAGGGATAAGGCCATTTATGAGCTAAAGAACTGTGAGTATACCACTTAAGCTCTATGTACTGCATTTTCATCATCTTGAAAGTAGGGATCAAGAGAGTATAGGATTGCCAGACGTTCTCACTCCAAATGCTAGGCCCTTCTTTCCCCCACTAACTGGAAGACCGTTAGCATTATGCTGTGGAATATGCCAAATATCTCATCTGAAAATGTTTGCATTCGGATGACCCCACCAAGAGCCTTCACTTCCTGGATCAAAGAAAGAACTAGCCTCAAAGACAAAGACAAAGTCCTCTTTTACCCTCAGAGCCACAGCAAAGTGCTCCAACCAACACAGGCCCAGGCTGTGGGACCCCACTGCTCACCCAAGAAATAGCCTTCAGTGTTCATTTAAAAGGGAAGGGGGACATTTATATGTCTAGGTGTCAAGTTTTTATTCCACTCAACAGAAAGCAAAAACACCAAGCTGGGCCCTCAAAACTAAATATCCGACAATGCCATTGATGCCCCAGGGCCAGAGTGAAGTTGCCAAGGCCCCAGCACACAGTAGGACCTCAGAACACAGTGTCCTCCTGGGTTCACACCTTCACTGTGCTGCGCCAAATGTGAAGCCTCTTGGGAAATGAAGGAGAAAGCCCAGCCCTGACACACAGACTTCATCGTGCTGGCGTCCCTAGCTTGCTCCTGTCTTGAGGCCTTGCAATGTGGGGGATCTCAGTGGTGGCCAGGGTCCCTCCTGGCTCCCTGGCAGCCTCACTCAGCCATCCTCAGCTACCACACCTGAATGACCTTGGGCAAGACAATTAGCCTCTCTGTGCCTCTGAGCCAAAGTTTCCTGTCCTTTATAATGGGTGACAATAGTCACAATAGCCCCATAGGAACACCAGAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTTGCCAGAGTCCCAGATCCTGGTGGGCATAGTGCGAAGGGCCCAGCTGGTGCAGGCCCTGAAGGCTGAGCCTCCTTCCTGGGCTCCTGGACACCAGGTGGGTACTCCTGAGGGGCATGGGGATGGGGCGGGGGTGGGTCAGCAGGAATGGGAGGAGAGGGGCCCGCTGATATCCTGAGGGAGAGGTGGTCAGAGAGAGGCATCCTGGGGAGGCCAGCCCTGCACCTGTAACCCTTCCCCACCCCCAGCAGTGTCTCCAGGACATCTTGGCTGCAGGCTGCCCCACAGAACCAGTGACCTGAAGCTGTCCCCAGAGACTTCCCTGCATGAGGTAACGGGGAGAACTGGGGAGTGTGACACATGAGGCCTCTGGGTGGGGGAAGAGCTGATGAGGAGCTCACGCTCCAGCCTCCCCTCCCAACCCCGCCCTGCCCGTCTTATGCTGCTTCCTGCTCCTCCTGGGCCAGTGTCCTCATCAGCAGACTGGGCAAAGAAGCTCCTGCCCTGTTGCCCCTCACTGCCAGGGTTGTGGGGATGATGCAGAGAGATGAGGGAAGTGGGAGAGTGGCAAATGTAAATCTCTGGGTGGAGAAAGACAGTGGAGTTGCACCAAGGCACACGTGCGCTTCAATTTCAGGTCCACCGCATTCTCCCTGTGTGATCTTGGACAAACGACTTAACCACTCAGGACAGAGCCTGGCACACGGGTTGGGGAGGGGCAGAGGCTGACAGGGGACCTGGAGATGGCCCCGCCCCCTCTGTGCTGCTGGAGGGTGCTGGATATTAGGTCCTGTTTACCTGCGGCCCCGCCCAGACCCTTGCATGGACTCTGGCATCCCCCAGTGGCCACATTGGACATTGCAGGCCTGGGTCTCTTGTCTCCCACACACATCAGGCCCCGCCCCTCTTCCTGGCTCAGAGGCGTGGTGGAGTGGGCTAGAGGGTGGGCTGGGCACCTTCTACCCTCCAGTGTTTCCTAACATCCCCCATCCAGGCACACAACCTCTTTGAGCTGTTGAACCTTCATTCCCTCTTTGTGACGTCGCGGGGCAGAGCTGTGGGCTGCGTGTCCTGGGTGGAGGTACCAGGGTCCCGGGGGCAGAGCAAAGCAGGGAACCTATGCCTGAGAAGACTGGGGAGGTGGGGAGGTGGGGTGGGGGGGACACCAGCATGCTCCCATCCAAACCTGGGGGGATTCAGAGGATACTGATGAGTCCCTCTTCTTGGCCCAGATTGGCCACTGGGCCTGGCTCCCCTACCTTGTTTTCTGGCCAGTGGCCAGCCTGCCCCTCTCGGCCTCAGTGATCCCATCTGTGCAATGGGGTGGCACAGGCTCTACTATTTACCCAGAAACCACCCTTAGGGGAACCAAAAATGCTGGAGCCCCCCTCACAACCTCCTCTACATCCCCCCGCACCTCCACCCCCTTTCTCTGTTCTAGATGAAGAAAGCAATTTCCAACCTGACAAATCCGCCAGCCCCAAAGTGAGCCGGCCCAGCAAGATGAAACAGGGCACCCCAGCTGACCTGGTACTGAGGTTGGGCTGAGACCCTGCTTCTCTTCCCCCATCACCACCTGCCCCTCCCTCCAGCCCAGCTCCATTCTTTGGCATAACAGGCAACTTTAACCTAGCCCAGAAGAGGATGGCTCATCCTGGGTGGGACGATGGCTCCTGCCTTGAAAGACAAAAATCCCACCTTGGGCAGAGCTGAGTGTGAGAAGATGGAAAACCAGTATCTGCCAGTTGCTCAGTGACTGGCCATCACATTAATGAATGATGAGATTGGAGTACACTGTCACCAAGGGCAGGCACAGATGCCTTCTGGGGTTGTCTGGTTCCCAGTGAGAGGCTCCTGAGAAAAATAAAGCTGGTTCCCAGAGCTGGTGTCCATCCCTCATCTCAGCTGCAAGGTTGCTGGTCTGGGACTGGAGCTCCTTACCTGCGCTGGCCCAGAGTGAGTTTCCCGTGGTCACGTGGGCACTGCAGGCTCGGGCCCCTGGGCTCCTCCTCATGCTCCATTTCTTGGCAGGGAGATGCCAGGGAGAGAGGGTCTCCCACCAGGTCTATGATGCTTGTCCTCATGGATAAGCAGGACCCTGTGTTGCTCAAGCCCTAGTCTCCTGCTTGGCTGGGCCACAGCTCATAAAGCCAGGACCCAAGTGTGGCTCCTTGGGGAGTCCACAGAGCCTTAGGCATCCTCCATGGGCCCTCTCTGGCTGGGTGGGAGCAGGTTGACCAGCTGTGTGAGCATTGGCAGTAGGGACCTTCCCTGACTCCCTCCGGACTCTGTCCAGGGGCCCAAGGTCACATCTTCCCCAGCAGAGACCAGGCCAAGGTCATCN
pathogenic
3,839
Variant on chromosome 1, at position 16986749, affecting ATP13A2 (ATPase cation transporting 13A2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
benign
GCTGGCTGGCAACACAGTGCCAGGAGCAGAGGTCCACTGTGATGTGCCTCCTGGCAGGACTTTCATCTTCACACCCACATCCCTTCTCCCCAGCATGATTCAACGTTTTCTCAGCCCCTACTCTGGCAGGCCTGGGGATAGCACCAGGGGTTCCAGGAATGAGGTTGGCCAGGGCTTTTGGAAGGCAGGAAACAGCCGGTCTTTCCTGTTCTCCCCTGCCCAGATGAGCCAGACGGCCAAGCTGCCTCTCTAGAGCAGAGGGGCTTGGCCAGGGGCCCGCTGGTGAGATGAGCTCAGAGGCACCCACCCTTCCCTGAGGGATGATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGC
GCTGGCTGGCAACACAGTGCCAGGAGCAGAGGTCCACTGTGATGTGCCTCCTGGCAGGACTTTCATCTTCACACCCACATCCCTTCTCCCCAGCATGATTCAACGTTTTCTCAGCCCCTACTCTGGCAGGCCTGGGGATAGCACCAGGGGTTCCAGGAATGAGGTTGGCCAGGGCTTTTGGAAGGCAGGAAACAGCCGGTCTTTCCTGTTCTCCCCTGCCCAGATGAGCCAGACGGCCAAGCTGCCTCTCTAGAGCAGAGGGGCTTGGCCAGGGGCCCGCTGGTGAGATGAGCTCAGAGGCACCCACCCTTCCCTGAGGGATGATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCNNNNNNNNNNNN
benign
3,957
Assess the variant on chromosome 1, position 16987071, impacting ATP13A2 (ATPase cation transporting 13A2): is it benign or pathogenic? If pathogenic, specify the associated condition(s).
pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Inborn_genetic_diseases', 'Kufor-Rakeb_syndrome', 'Neurodegeneration_with_brain_iron_accumulation']
GATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTAGCCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATG
GATGCGCGTGGTTCTGGCTGGGAGATGTGGGCTCCGAGCCTGGATTTCATCTGAGGAAGGAACTGCCCACAAACATGTCCCAGGATGCTGGGGTGGGACGGGGAGGGGGTAAGGTGGGAGAGAGGGAGCTGCCCCCTAGCAAATGCCTCCCAGGCAAGCCTACATCTCCTTGTCCTCCAAAGGAGGGTAGGAGGGTTAGGAACATCGAAGCTGGAGTCAAAGCTATCCGGCCCCACTCTGACTACTTGTGTAACCTCTAAGCCTTGGTTTCTTCATCTGTAAAATGGGAATAGTACCACAGTTGTTGGAAGGATGACATGACAATGTGTGTAAAATGCTAAATGGGGCCAAGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGACGAAACCCTGTCTCTACTAAAAATACAAAATTTAGCTGGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAAGCGGAGGTTGCAGTGAGCAGAGATCACCCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAGAAAAAAAAAAAAAAAAAAAAAAGCTAAACGGAATATCCAGGCACATGCTGGACACAGAGGAAACATTATTACTGTGAGATGAGGGAACACAGGCCCAGAGAGGGGAGTTGGCCAATGGAGTCTGAAAAACCAGGGGGTTCCAGGGGGTTGTCAGGCTGAAAAACCAGCCTGAAAAACCAGCCCCCCAGGGGGTTCCAGGGGCAGACACGTGCAGGGGCTGCCAGCTGGGCACCCGGGGGTATGTGCATTTCCTCCTGGGCAGGTGGGAGGGTCTATGGTGCCAGGTACAAGACAGGCACAGCAGAGCCAGGAAAATATCATGACTTTATTTGCTACACTGACAGCAGCACTGAGGGGAGCTGGGGGCTGCCACCCCTACGCGGGATGGTCCAAGGTAGGGGACAGTAGTCAACGCTTCCCCAGGGTGGGGGTGGTCTCGGGGGAGGAGTGTAGACAGTCGCCAACCTCAGGGATGTGGGAGGTGGTGGCGGTGGTGTTGCTGGAGAGGGGTCCAGTTGGTGGCTCAGAGGCAGGGAGTTCCAGTGTCTGGGGTGCCCGTGGGCCTGCACTACCTCAGGGGGCCGGCGGGCAGCGGCGGCCAGGGCTGCTCGGCCAGCTCTCGTTCCAGCTGCTTGAAGCGCTTCTTGGAGGCCCGCTTGGGCCGGAGGCGGCGCAGGCAGGCGGGGAGGCACTGGTCTAGCACGCTCTGCAAAGGGCAGGGAGGGTGTCAGGGGCAGCCGGGGCTGAGCTGGGGTCAATGCACCCCCACCTCCCTTCTCTCCCGCTGCTGAGACCCAGGGCGGGCCCCACCTCCAGCATGAAGGCCCCCACGAAGTTGAGGGTGACCAGACCCAGCAGCAGCAGCTTGAAGCCGGTGTCAGTGATGTTCCTCAGCGCCAGCGGCCCCTGCAGGAGGCCGGGGACCAGGACAAGGCCCACCAGGACGGAGCTCAGGAGCGCCAGGGCCACCAGGAAGGGCACTGGGAGCAGGAGAGTCTCTCAGGCAGGAGCCACGCCCCCCCGGCACCCACAGACACACGTGTGCACGCCAGTCTTCCACTCGGCCGGCACCTCTCTCCCATCTGCCTCCCCAGCACCCCAGGGCTCCTCCCTCCCTCCGCCAGCATCTCCCGCCCGCGCCCGCAGTGGCACCATTGGTGTAGAGCGGCCGGCGGAAGGGCGCCCCCTTGGACACGGCTGCAGCCAGGATGAGGTACTGGAAGCTGGACAGAGAGAAGACCACGGTGTTCTCGTAGTTGGGCAGGTTGTCTGGTGCGGCCACTGTCCTGTTCAGAGGCACGAACCTGGGGGTACAGGGATGGGGGTCAGGGAACGAACGTGGGGTGGACAGGGAAGGGGCGGGATGGGGGTGGTCAGTCAGCTCCCTACTCACCATGGCTGGGCCAGGGTCAGGAAGTACCCCCTAGCTGCACGCCGGTCACCAGGACCATCTGCAGCAGCAGGCTGCTGAGCACGGGCACGCTGAGCAGCGCCCCCGGTGGCCGCACCCGTCCCAGGACCAGCGCTGGCCCCGTGCGGCTCATGAGCACTGCCACTGTGGTGGTGATGACCAGGTCGATGGCCAGGAACTGCAGGTCACCCAGGTTGGTGTTGATCTGCCACAGGGAAGGGAGGACAGAGGGGAAACTAAGACCTGGCCCTGGCAGCCCCTAGTCTGATAGCAGAGGCCCCACCCCTGCCCCGAAGGAATCTGATGGGTAAGGCATCCCCCAGTCTAATGGGGGCCGTACTCTCCTGCCAGCCCAGCGGAGGAGGTGCCGCTCTTGATGTGAGACAAACCCCTGGTCTGATGGAAAGGGCACCTGTGCTGACCTTGGGGGCCTAAATCTGAGGGGAGGTTTCCCTCCCTGTAACAAACTCCCGGCCCGAAGGGGAGGCTTCGGCTCTGCCTTGCGGAGTCCCTATAGCTACCAGGGCATGCACAGTTCCTGCCCTCAGGGAGCTCCTCGCTTTCAGGCAGACACAGGGACAGACCCAAGTATAAGATGTGCGCCGCCCTGCAGTGTCACCTCATTCGCTGGGGGTGAGCAGGCCATGCCCAGAGCAGGGGAGGGGAGAGCTCCTCCAAGTAGGGTGTGGGAGGTACAGCCAAGGTATGGGGCAAAGCAAGTGCATCTGGGGAAATGGGCAGACCTGTGGGGATGGGGCGGGGGCGAGGGTTTTGGCCCTGCCTCCGTTCAGTCTTCCCTGCAGATTGGGGAGCTCCCAGAGTTGCGGTCAAGATGTTAGCCCATGACAGCTGCTGCCATTTGTGAGGACCTAGTGGGTACCAGGCTCCGTGCCTGGTGTTTTTCTCATCTCCCCCAAGCCTTGCCACCTCTCCAACCACACAGCCGGAGAGTGGCAGGGTCAGGATCTGGGCCCACGTCATCTATTCTGGGACCTGCCAGCTCCAAGGCACAGGGCTGTGTCCCCTCCCTAGTCCTGGGACGGCTCTGGGTACGGAGCTCTGCAGATACTCACCGTGTAGAGGATCAGGACGGAGATGAACTGGGTCAGGCTGTACAGAGCCATGTACTTGAAGACGCTGAACGAAGTGTCAAGGGAACAGCGCCCCTCCCTGGGTGGCAGGGCACGGACATTAGGGGACCCAGGTTGGCTGACCAGCCCTGCTGAGCCCTCACCCACCGGTCCCTGCCTGCCTTACCTGATGACCATGGGCACGCACTCAATACTGGCCATGCTCGAGGTGAAGGGTGAGACCACTGAGGCTTCTGCCTGGGACAGCGAGATGCCGACATCAGCCGCCTTCAGGGCCCCACAGTCATTGGCGCCGTCTCCGCACATGCCCACGCAGTACCTGAAGAGAGGTGTGGACAGGTGTGGCCTGGGGAATTACCCCACCACCCCATGGGTGGGCTGGCAGAATATGATGACAGCTGGGCCCCTAATGCCACATGGTGCCTGGTGTACAGGAGGCGCTCAGTGAATAGATGCAATTATTATTATTATTATCATTATTATTATTATTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGTAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGACGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTAAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCGGCCTATTATTTTTTGAGACAGAGTCTCCCTCTGTTGCCCAGGCTAGAGTGCAGTGGCGTGATCTCTGCTCACTACAACCTCCTCTGCTGCCCAAGTGCCCTCAGCCTCTTGAGTAGCTGGGATTACTGGTGTGCGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGN
pathogenic
3,967
A genetic alteration at chromosome 1, position 16992037, in gene ATP13A2 (ATPase cation transporting 13A2)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Neurodegeneration_with_brain_iron_accumulation']
AGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGGTGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCC
AGCCTGGTCAGGATCCTGGGGGCCCAGGAAGCTCAGCTTAGCTCCCCCTGCCCACCCTGGAGAGTTGGGGCCTGGGTCAGGTGACACAGGGGTGGGGTCACTGGGTGAGGTACAGCTGGAACTCTGGGTTAGCCTCACCTTAACGCCATTCACGGCTGTGGGGGACTCCATCGGCAGGAACTCGAGAGAGGCAGGCTGACCCCGCTCAGGGTGGGTGGCGTGGACGATGATCAGATGCTCCTGGGGGGCCACCATGCCACAGCCCCGGGCCACAGTCACCGCTGTCTGCAGGTTGTCCCCTGGGGGTTATGGGGCAAGGTGAGGGTCTGAGGCTATCCGGGGAGGCCATCCTCATCCTGATCCTTACAGATGGGAAAACAGGCTGGATGAAATCCGTCTGCCACCACCAGCCAAGTGAGCTGAGGCAGGTTACCAACATCCCTTTGCCTCAGTTTTCTCATCTGTAGATCCAGGCATTGAAGGGTCTTAGGAGAACCTGGAGCCGTGGGCTGGAGCTCCACATATACTCCTTTTTTTTCTTTTTTTAAGACAAGAGTCTCTCTCTGTGGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCACTGCAACCTCCTTCCTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCTTGAGTAGCTGGGATTACAGGAGGGTGCGACCACACCAGGCTAATTTTTTTTGCATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGTCTGGTCTTGAACTCCTGGCCTCAGGTGATCCCCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCACGAGCCATGTGCCCAGGCTACATATACTCCTTACTGCTGTGTGACTCTGCTGCCAAGTGCCCATGAATGTGTGTGCACATATGTGTGTGTGCAGGGGCGGGGAGGACAAGGACACAGACCTCTTAGCTCCTGCTGTCTCACCCTAGCTAGAATCTTTTTTTTTTTGAGACTGGGTCTCTCTCTGTTGCCCAGGCTGGAGTGAAATGGCGTGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTGAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATCCACCACCATACCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAAGTGATCCGCCCGCGTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACACTGTGCCCGGCCATTTTCGTATTCTTTGTAGAGACGGAGTTTTGCCATGTTGCCCAGGTTGGTCTTGAACTCCAGGGTTCAAGACATCCTTCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAAGTACCGTGCCCGGCCAGAATCTTTCTCTTCCTGCTCCTTGAGCTTGTCACAGCCTCTGAGGCTGACATCATTATCCCCATTTCTCAGAGGTGCCACCTGGAACCCAGGCTGTCTGACAGCGCACATGGGTTCCTTGGAAGTCACTCCACTCCTCTGAGTCTCAGTTTCCTCATCTGTCAAACAGGGGTGACAATTACCACTTGCGGGGGGGATATTGTGAAGATTCACGAAATGTTTAAAAAGGACCTGGCCTGAAGCAAGGGCCCAAAAAGATGCCCCAAAAAGGAATCCCTGGTGCCCCTCTTCTCTGCCAGGAAGGGGCGGATTCTGCCCTGCTAGCCCGGGCCCCTACATGCCATTGTACCTGTCACCATGACGGCGCGGATGCGGGTCCTTCGCAGAGCCTGGATAACTGGCGTTGTCTGCGGCTTCAGTAGGTTCCTCATGACCAGCAGCCCCAGGAGGCTCAGGTCTCCTTCCACAGTGTCCCTGGAGGGTGGGCAGACCTGGATCAGAGGTCATGCAGTGGCCAGGGCCCCTCTCCCAGCCACCAGGCAGGGCATCTTCCTTGGGCTCTGCCTGCGTGAGAGCCTCCCTCTGCCTAGTCCTCAGAGTGGGTGGGACAGGAGACAGGCCCACCTCGTCAGTTGCTGGGCTGCCTCCAGGCTGGCACAGTGGGCAGTGGCTTGCTGGCCAGGGCCACGACACGGTAGCCAGCAGCTGTATAGCTCTGCAGCATCTGGGCGAAGTCGGTGGGCACTGCCAGGGAGAGGCAGGTGTCACAAGGAGGGGATGGCAGGGACAGAGGCTGGGTACCCACCCCATTCTGTGCCAATGCCCAACCAGGGGGACTCAGGGGCTTCCCCCTGCACCTGTCTCGGGGTTGCAGAGCCCTGCCACCAGCTCCGGGGAGCCTTTGACGTAGGCCTCGGGCTGAGTGGCCCCTGGCCACGCCACCACCACACTCATGCGCTGCAGAGCCGAAGAGAAGGGGAAGCGGTGGAGGACGCTGACTGGCACCGGGGGCTCCTCCTGCAGGGTTGGAGAGGCAGCTGAGGTGCTGGCTGGGGAGCCCACCCCTCTGCCCTGCACCCAACAGGCCCCCCTCAGCTCACCATTGCCTGCAGCTGGGGCTCCCAAAGTGGGGGTCTCATCACTGCCAAGACCTGGGTCCCAAATGCTGAGTCTGCAGCCGGCTCTTCCTCCAGGACCTGGCAGGCAGGCAGGGAAGTTTGGTGTCTGGGGGCTTTGGCTCACAGAGAGATTTGAGCTAGACTCAGGGAAGACTTCCTTCATGGGAGACTGAATGGTGGGTTAAGAATGTGGGCTTTGGAGCCCGGTGGACTCAAATTCAAACTCTAGCTTTGCTACTTACAAGCTGTTGGGTGACCTGGAATACGTCACTCCAAATCTCCCAGCCTCAGCATCCGTGAAGCAACATTTGAGCTTGCTTGCTAGGGCTTGGGGAAGAGGAAATGAGACCAGGCCTCTGTGGCCGTGCGCTGGCGCATAGTAGGCACTCAGCCTGAGGCCTTGCCATTATTATTATGTTACTTTTATTTTAAGACAGAGTCTTACTCTGTGACCTAGGCTGGAGTGCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGATTCAAATGATTCTCCTGCCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTTCCACCGCACTTGGCTAATTTTTGTATTTTTATTACAGACGGGGTTTCACTATGTTGGCCAGGCTGCTTTCAAACTTCCGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGTCACTGCACCTGGCCTATCATTATTATTTTTTGAGACAGGGTCTCGTTCTGTTACCCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCCCTGTAGCCTCGCCCTCCCGGGCTCAATTAATCCTCCCACCTCAGCCTCCTGGGACTACAGGCATGCACCACCACGCCCGGCTAATTTTTGTATTTTTGGCAGAGATGGGGTTTTGCCATGTAGGTCAGGCTGGGGTCCCGGGCTCAAGTGATCCTCCCGTCTTGGCCTCCCAAAGCGCCGGGAGCCACGTTACAGGTGTGAGCCACTGCGCCTGGCCTATTATTATTAATGGTGGGCATAATAAGAGACCACCCTGAAAGATGGAGAGGGAAGACAGGGTGGGATTCGTTAGGCCCCACTGCCCAGAGGCAGGGGGCTGACCTGCTTGGCCTCCTCACCCAGCCAGTAGACTCCACCATCTTCAAGTCCATGGGGTCGCCCACGGGGGTGTCCTGGAGCCGGCTGAGGGCATGGCAGGTGGCCAGTGCTCGGAGCAGGGGCCCCACAGGCAGGCGGCGAGGCTCTGGGACCAGGGGCAGGAATGCCTGCCCCTTCAGGGGCACCACCCCCATCACGTCTAAGCCGTCCTCAGTGAGGGTGCCCGTCTGTGGGAGACAGGTGGGTGGGGCAGCGATGAGTCCTGGGATGGGGGTACCCTGCTGAGCTGGGCCTCCAAACCCCAGGCCCGGCGGACCCTATGGGAACCCCAGGAACTCGAGCTGGAGCCAAAAGATGACCTTTCTTGACTGCTGTCCTTGGCACATGTGATTCCCTCTGCTGGGGTCCCCCTCCCCAGCCCCCACCGTCTCTCTGTCTAGCATCATCTCTTCCAGGGTGTCTTCCTCCTTAACTCCN
pathogenic
3,996
Gene ATP13A2 (ATPase cation transporting 13A2) variant at chromosome position 17000015 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['ATP13A2-related_disorder', 'Autosomal_recessive_spastic_paraplegia_type_78', 'Kufor-Rakeb_syndrome']
TGCTCGCCATGGCCCTGTGAAGTCCTGGGCAGGCTGCCTAGCAAACAGTGGCACTCCCTTACTGAATGCCTGCAGGCTGGGACTATTGAGCACCTACTGTGTGCACATTCCTGCAAGGGAGTCAGACAATCCTGCCATGTCTGCCTCACAAGAGATGAGCAGATGAAGTATGTGTGGACAGTTTGTGGAGGGCAGGGCTCAGGGCGTGTGCCCACAAATCATACTGATCACAATTACTACTTTTTTTTTGTTTTCTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTAGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTACCTGGGACGATAGACGTGCACCACTACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGGTTTCAACATGATTTCCAGGCTGTTTTCGAACTCCTCACCTCAGGCAATCCACCCACCTCTGCCTGCCAAAGTGTTGGGATTACAGGTGCGAGCCACTGCGCCTGGCCTACGATTTGTGATACAAATACAATGCCAGCCAGAAAACTTCCCTGGAAAAAAACCACTATCCTGTGGTTTTTAGTAAACTCTCTCCAGTATCTACCACCAAAATATAACACATCTCAGAGAAAGAAATACTTGCACACATCAAGAGACACAGGACAAAGCTGCTCCTGTGGCGTCCTTTGCAATGGCTGGAAAATCACATTCTAAATACTCATGGCGAGCGGGCCGGTTGAGTCAGTTACGATACATCCGTATTGTGGACTCTCATGCAGCCATGAGGTGGGGCCATCCGTGCTTGTGGAAGGATGCCAGGAGAAAAAGCAAAGTATGGAACAATACACAGCATACAATCCCACGTTCAGAACAAAAGGAGAGGCAAATCAGCCCATGTGCACACACGTAATGCAGAAAAAGGCGTGGAAGACACCTCACACCCTTCACAGTGGCTGCCCTGGGGAGGGGAAGGGAAGGGGACTGTGGGGTAGTGAATGGGGACCGCAGTCTCTCACTCTGGGAGAGGGCTTCCCACTCTCCTGTGCCATCTGGAATCTTTATGACCTGAAGGTGGGCACTGGTATAGAAACAGCTCAGATGCAGCCAGGTGCTATGGTTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACGTGGTGAAACCCCATCTCAACTAAAAATACAAAATTAGCCGGGTATGGTGGCGCACACCTGTAATCCCAGGTACTTGGGTGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCATGGTACTCCAGCCGGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAATAGCCCAGATGCACTGGGTGGCTGGCCATTTATGCTGCACCTCTCACGCTCCTAAGCACTTTGCACAACTCTGTCCAGGAGGAGTGACTGACAGCCATCTTACAGAAGAAGGAACTGAGGCACGGAGATGATACGTGGTAACGGCCCAGGGGTGTGAGGTTAGCAAGTCCTAAAGCTGGGATTGTTGCTTGAGAGAAAAAGGAAGAGGAGGCGGAGCGCTGGCACACGCCTGAAATCCCAGCACCTTGGGAGGCCGAGGTGGGCAGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAAACTCCATCTCTACTAAAAATAAAAAATTAGCTGGGCGTGATGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGGGGTGGAGGCTGCAGTGAGCTGAGATCATGTCACTGCACTCCAGCCTGGACAACAGAGTGAAACTCCGTCTCACAAAAAAACAAAAAAGGAAAAGGAAACTCAAATGAAAACTTTTGCCGCAGGGCAAAGGGTTGGATGGCAGGGGAGGAAGGAAGCTGCAGGCCAGGGGCTGGGGGCTCACCTGTCAGAGAGCTCTCATTCACCATGCACTCGCCGGCCACCAGGGCGGCATCACAGGGCATCAGCCCACCCTCCTGGGGCAGCACCAGGCAGTCTCCGGGCACTAGCTCACTGGAGTCCACCCACTCTTCCTCTGCAGGCAGGCAGGAGAGGAGCTCAGCTAGGTGGGGCCAGCCCCAGCCATGCCCCCCCACCCTCCCACTCCTGCCCCCGCCCCCTGGGCCCTAGCTCCTCACCTCCCCCTGGCCGGCACACGCACACCCGCATGGACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACT
TGCTCGCCATGGCCCTGTGAAGTCCTGGGCAGGCTGCCTAGCAAACAGTGGCACTCCCTTACTGAATGCCTGCAGGCTGGGACTATTGAGCACCTACTGTGTGCACATTCCTGCAAGGGAGTCAGACAATCCTGCCATGTCTGCCTCACAAGAGATGAGCAGATGAAGTATGTGTGGACAGTTTGTGGAGGGCAGGGCTCAGGGCGTGTGCCCACAAATCATACTGATCACAATTACTACTTTTTTTTTGTTTTCTGAGACGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTAGGCTCAAACGATCCTCCCACCTCAGCCTCCCAAGTACCTGGGACGATAGACGTGCACCACTACACCTGGCTAATTTTTTGTATTTTTGGTAGAGATGGGGTTTCAACATGATTTCCAGGCTGTTTTCGAACTCCTCACCTCAGGCAATCCACCCACCTCTGCCTGCCAAAGTGTTGGGATTACAGGTGCGAGCCACTGCGCCTGGCCTACGATTTGTGATACAAATACAATGCCAGCCAGAAAACTTCCCTGGAAAAAAACCACTATCCTGTGGTTTTTAGTAAACTCTCTCCAGTATCTACCACCAAAATATAACACATCTCAGAGAAAGAAATACTTGCACACATCAAGAGACACAGGACAAAGCTGCTCCTGTGGCGTCCTTTGCAATGGCTGGAAAATCACATTCTAAATACTCATGGCGAGCGGGCCGGTTGAGTCAGTTACGATACATCCGTATTGTGGACTCTCATGCAGCCATGAGGTGGGGCCATCCGTGCTTGTGGAAGGATGCCAGGAGAAAAAGCAAAGTATGGAACAATACACAGCATACAATCCCACGTTCAGAACAAAAGGAGAGGCAAATCAGCCCATGTGCACACACGTAATGCAGAAAAAGGCGTGGAAGACACCTCACACCCTTCACAGTGGCTGCCCTGGGGAGGGGAAGGGAAGGGGACTGTGGGGTAGTGAATGGGGACCGCAGTCTCTCACTCTGGGAGAGGGCTTCCCACTCTCCTGTGCCATCTGGAATCTTTATGACCTGAAGGTGGGCACTGGTATAGAAACAGCTCAGATGCAGCCAGGTGCTATGGTTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACGTGGTGAAACCCCATCTCAACTAAAAATACAAAATTAGCCGGGTATGGTGGCGCACACCTGTAATCCCAGGTACTTGGGTGGCTAAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGCACCATGGTACTCCAGCCGGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAGAAATAGCCCAGATGCACTGGGTGGCTGGCCATTTATGCTGCACCTCTCACGCTCCTAAGCACTTTGCACAACTCTGTCCAGGAGGAGTGACTGACAGCCATCTTACAGAAGAAGGAACTGAGGCACGGAGATGATACGTGGTAACGGCCCAGGGGTGTGAGGTTAGCAAGTCCTAAAGCTGGGATTGTTGCTTGAGAGAAAAAGGAAGAGGAGGCGGAGCGCTGGCACACGCCTGAAATCCCAGCACCTTGGGAGGCCGAGGTGGGCAGATAACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAAACTCCATCTCTACTAAAAATAAAAAATTAGCTGGGCGTGATGGTATGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCACAAGAATCACTTGAACCTGGGGGGTGGAGGCTGCAGTGAGCTGAGATCATGTCACTGCACTCCAGCCTGGACAACAGAGTGAAACTCCGTCTCACAAAAAAACAAAAAAGGAAAAGGAAACTCAAATGAAAACTTTTGCCGCAGGGCAAAGGGTTGGATGGCAGGGGAGGAAGGAAGCTGCAGGCCAGGGGCTGGGGGCTCACCTGTCAGAGCTCTCATTCACCATGCACTCGCCGGCCACCAGGGCGGCATCACAGGGCATCAGCCCACCCTCCTGGGGCAGCACCAGGCAGTCTCCGGGCACTAGCTCACTGGAGTCCACCCACTCTTCCTCTGCAGGCAGGCAGGAGAGGAGCTCAGCTAGGTGGGGCCAGCCCCAGCCATGCCCCCCCACCCTCCCACTCCTGCCCCCGCCCCCTGGGCCCTAGCTCCTCACCTCCCCCTGGCCGGCACACGCACACCCGCATGGACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACTNN
pathogenic
4,027
Evaluate this variant at chromosome 1, position 17002326, gene ATP13A2 (ATPase cation transporting 13A2): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Autosomal_recessive_spastic_paraplegia_type_78', 'Inborn_genetic_diseases', 'Kufor-Rakeb_syndrome']
GACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACTTGACCGGTATGCTGATCACGTTGGGGCCGTAAATGGCCTTCCTGGAAGAGGGGATGAGGCCAAGCCATCAGAAGGAGGAGCTGTGGCTGGACCCTCCCGGGGTGAAGGAGCTCCCCACTTTCAGCTGGGGGAACTGAGGCCCAGAGAAGGCAGGTGACTGGAAGGCAACCACATTGGGGGGCAACACAAGGAGCCCCAGTTCTCAGGGCACCCCGGTCCAGGGCAGCACTGACCTCACCATTTGGTCCTGGAGGCTGAGGCCATGGCGGGAGCGGTGGACGTCGTCACAAGAGCGGCCATGGTCCAGGAGGCTGGGGGTGGGTGCGAGGGGACACGCATGGGCCATGGGGCCTGAGGTCTGCATCCCCCACCCTGTGCAGGCTGGAGACTATGGGCTCTAGGCCCCCCATCCCCGTTCTGCCACACTGAGCTCCTGGGAGCAAGTAAGCCCCCTTGAACCCAAGGCTTGGCTTTGCCCTTTTGTTCCTCTCACTGGGTTCCAAACCAAGTCACTGAAGAAGGAGAACAGCGAGAGATGATGCTAATAATATGAACAGTGAAAAGAGTAGCTGTTATTTAGTGATAAGGGCACTATTTACACTGATGATACCCTGGGCAAGTCACTTAACCTCTCTGTGCCTCAGTTTTCTCATCTGCAAAATGGGGGCAGTGACAGCACCTACCACATAGGGCCATGGGTAGATTAAGTGGGGCAAGCCTCGGGGACTGCTTTGGACGTGCCTGCCACTTGCTAAGTGATGAATGCACGGGTGATTTTTGCTATTATCCCCATCATGCAGCAGAGGCTGTTGCTGCCATCCCCATCTCCCCTCTGCCTCACCTCCACATGACAGCTGGACCCTGAAAACACCTGTCTTTACCTGAGGCCTTCTGGCTGCATGTGAATCCCCTGCCTGTGAGCCCGGAAAGCGTGGAAGACTTTGTGTCCCGTGACTGATAATGGCAGGGAATTTGATGGTAACTGTCCTCACTCCCTGTGTGAGGTCGCCCAGAGGTGTGTGGTCTACGCTGGCCCAAGGAGATCCCCAGGCGACTGAAGTCCGGGTGTCCACAGCTGTGGCAGCCAGCATAACCTCCCTCCGTGCTTCCATCCCTTCCCCAGCACTGCCTGGGATCAGCTTCAAAACAAACTCCCTGCCCTTGAGCCCTTGTCTGGGGGTCTGCTTCTGCGGCATTCAAACTAAAGTGTGTGAGCAGGGCCCGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGTATTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCCCTACAAAACATGCAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTGCAGTGAGCCGAGAATGCGGCATTGCACTCCAGCCCGGGCAACAAGAGTGAAACTCCATCTTAAAAAACAAACAAACAAACCAAAAAAACCACACACACACACACACACACACACACACACACACACATACACACAAACTAAGGTGTGTGGTGAGCTTGTGTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCATGCTCTGTCATCCAGGCTAGAGTGCAGTGGCGCGATGTTGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCTCGTGATCCACCTGTCTTGGCTTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGAGCTCATGTTTCTTAAGCCTTTTGTAGGTGGCAGAGCAGTGACTAAACCCCAAGCAGACAGTCTGAGTACAGAGCTGATAGTCTGATTCACAGTGGTGTCACAACCTCAGATCACATTCGGTGCCAAGCTCTACATAAATTATTATCTATTTCACCATCAAAACAATCCTAGGAGGCAGAAGTTATCTTCATGCCCTATTTATAGACAGAGATCCCAGGCCTGGAGGGGCTCAGTAACCTGCCCAAGGTTTCAGACAGCAAAAGCATCAGAGCTGAGAGGGGAGCCCAGGCCATGCCATGCCACCGTCTGTGCCCAAACCAGTGCCACTCTGGGAGGTGACATGAGCCACACAGGCCCTGACTCCTACCTGACCTGGTAGAAGGCTTGCTGGGTCTCGATCCAGATATAG
GACAACTTGACCATGTCCCTTAGAGTCTGGCTTTGCTGTGGGCAGGGGACAAGAGGGCCGTGAGTGGGTGGGGGCCCCTGGGGACCCACCTGTCCCGTCCCCACCCACCTTATGGCACTCACCTTTCTGGTCTTGTACAGCGACAGGCAGATGGAGATGGAGGAAATGAGGAAGATGCACAGGGCGTACCAGTAGTAGTGGTCAGCCAGCCACAGCGCGATGCTGAAGGCCTGGAACCCATAGTAGGGGTTCAGTGCCTGGGGGAGGGGCGGGAGGCAGCGTCAGGGCCGCGTCCCCCAGGGCAGCCCAGCCACAGGCTGGGTCTCCTGTGCCCATGGGAGCAGAGGGCCCAGTGGCTGCCAAAGGACTGGAGCCAGGCCTTTCTCCTGGTCAATCCCATCCCCACCCAACCAGACATCCCCAGGGCCCTCAGTTTCTCCGCTCTAAAGAGGACAAGGGTTTATGACCAGCCTGGGCAACATGGCGAAACCCCATATCTACAAAAAATACAAAAATTAGCCTGATGGGGTGGCCTGTGCCTACGCTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATCACTTAAGCTGGGGAGGTGGAGGGTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGAGTGACAGAGGGAGACCCTGTCTCAAAAAAAATAAACAAATAAATAAATAGGATAAGGGTATTTACTGAACCCCCACTACACGCCAAGTGCTTTATCTAAGTGTCATACAATGGCAATGACAATTCTACAAGGCCGGTACCACCATTAGCTCCATTCTACAGATGAGGAAACCAAGGCATGGACAGGTGAAGCCACTGGCCTAAAACCACATAGTTCCAGCCAGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGCAAGGCCGAGGCAGGTGGGTCATCTGAGGTCAGGAGTTTGAGACCAGCCTAGCCAACATAGTGAATCCCCGTATCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTATGTAGGAGGCTCAGGCAGGAGAATCACTTGAACCCAGGAGGTGGACATCGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAACAACAAACAAAAAACAAAAAACCACATAGCTTCTAAGTGACAGACTGATTTCTATGGGGCCAGACTCAAAGATCTCTTTCATGGTGCCTGCCCCCGATCAGAGGGCTGGGATGTTCACACTTTATTCTAGTTGTGTCCAGGTCACTGGCTTCTCTTTGTCCCTGTGTGACCTTGGCCATGTCACAGCCTCCAACTGAAGCTTGGATTTCTCAGGTGTGAACAGTGCAGTCCCAGGCCCAACCCACGGGACTGTTGGGAGCATGAAAGTGGAGGACGCACAGAGAGGACCCAGGCTCTAGGGCGTGTCTCTGGGGACCCCATAGATGCTCAGGCTGCGTGGATTTGCCTCTTGGCCTCCAATCCCTATGAGTGGGGCCCCAATCTGTGACCCAAGCCTTGGGCAGAACCTCCAATTCCTGGACCTGGTCTCTCTGGCTAGGCTGACTGCGGCAGGTTCTGAGATGACGATCCACTATGGAGAAGGGGACAGCTGGTCTGGTTGCCACCGTAAAGTGGCCCAGAGGAGGCAAGCCCTGGGCCAAGGTCACACAGCACGCCAGGCAGGGCTGGGGCAAGACCCAGGGACAGCCCTACCTCGTCCACCAGCAGCTGGGGGTAGGACTTGACCGGTATGCTGATCACGTTGGGGCCGTAAATGGCCTTCCTGGAAGAGGGGATGAGGCCAAGCCATCAGAAGGAGGAGCTGTGGCTGGACCCTCCCGGGGTGAAGGAGCTCCCCACTTTCAGCTGGGGGAACTGAGGCCCAGAGAAGGCAGGTGACTGGAAGGCAACCACATTGGGGGGCAACACAAGGAGCCCCAGTTCTCAGGGCACCCCGGTCCAGGGCAGCACTGACCTCACCATTTGGTCCTGGAGGCTGAGGCCATGCGGGAGCGGTGGACGTCGTCACAAGAGCGGCCATGGTCCAGGAGGCTGGGGGTGGGTGCGAGGGGACACGCATGGGCCATGGGGCCTGAGGTCTGCATCCCCCACCCTGTGCAGGCTGGAGACTATGGGCTCTAGGCCCCCCATCCCCGTTCTGCCACACTGAGCTCCTGGGAGCAAGTAAGCCCCCTTGAACCCAAGGCTTGGCTTTGCCCTTTTGTTCCTCTCACTGGGTTCCAAACCAAGTCACTGAAGAAGGAGAACAGCGAGAGATGATGCTAATAATATGAACAGTGAAAAGAGTAGCTGTTATTTAGTGATAAGGGCACTATTTACACTGATGATACCCTGGGCAAGTCACTTAACCTCTCTGTGCCTCAGTTTTCTCATCTGCAAAATGGGGGCAGTGACAGCACCTACCACATAGGGCCATGGGTAGATTAAGTGGGGCAAGCCTCGGGGACTGCTTTGGACGTGCCTGCCACTTGCTAAGTGATGAATGCACGGGTGATTTTTGCTATTATCCCCATCATGCAGCAGAGGCTGTTGCTGCCATCCCCATCTCCCCTCTGCCTCACCTCCACATGACAGCTGGACCCTGAAAACACCTGTCTTTACCTGAGGCCTTCTGGCTGCATGTGAATCCCCTGCCTGTGAGCCCGGAAAGCGTGGAAGACTTTGTGTCCCGTGACTGATAATGGCAGGGAATTTGATGGTAACTGTCCTCACTCCCTGTGTGAGGTCGCCCAGAGGTGTGTGGTCTACGCTGGCCCAAGGAGATCCCCAGGCGACTGAAGTCCGGGTGTCCACAGCTGTGGCAGCCAGCATAACCTCCCTCCGTGCTTCCATCCCTTCCCCAGCACTGCCTGGGATCAGCTTCAAAACAAACTCCCTGCCCTTGAGCCCTTGTCTGGGGGTCTGCTTCTGCGGCATTCAAACTAAAGTGTGTGAGCAGGGCCCGGTGGCTCATGCCTGTAATTCTAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGTATTTGAGAACAGCCTGGCCAACATGGTGAAACCCCGTCCCTACAAAACATGCAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTGCAGTGAGCCGAGAATGCGGCATTGCACTCCAGCCCGGGCAACAAGAGTGAAACTCCATCTTAAAAAACAAACAAACAAACCAAAAAAACCACACACACACACACACACACACACACACACACACACATACACACAAACTAAGGTGTGTGGTGAGCTTGTGTTTCTTTTTCTTTTTTTTTTTTTTTGAGATGGAGTCATGCTCTGTCATCCAGGCTAGAGTGCAGTGGCGCGATGTTGGCTCACTGCAACCTCTGCCGCCCAGGTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACATGCCATCACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCAGCATCTTGGCCAGGCTGATCTTGAACTCCTGACCTCGTGATCCACCTGTCTTGGCTTCCCAAAGTGCTGGGATTACAGGGGTGAGCCACCGCACCCAGCCTGAGCTCATGTTTCTTAAGCCTTTTGTAGGTGGCAGAGCAGTGACTAAACCCCAAGCAGACAGTCTGAGTACAGAGCTGATAGTCTGATTCACAGTGGTGTCACAACCTCAGATCACATTCGGTGCCAAGCTCTACATAAATTATTATCTATTTCACCATCAAAACAATCCTAGGAGGCAGAAGTTATCTTCATGCCCTATTTATAGACAGAGATCCCAGGCCTGGAGGGGCTCAGTAACCTGCCCAAGGTTTCAGACAGCAAAAGCATCAGAGCTGAGAGGGGAGCCCAGGCCATGCCATGCCACCGTCTGTGCCCAAACCAGTGCCACTCTGGGAGGTGACATGAGCCACACAGGCCCTGACTCCTACCTGACCTGGTAGAAGGCTTGCTGGGTCTCGATCCAGATATAGN
pathogenic
4,044
Evaluate this variant at chromosome 1, position 17018936, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
TCCCAGCTGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTT
TCCCAGCTGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAG
pathogenic
4,074
Is chromosome 1, position 17018943, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
TGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTT
TGCTCTGGAGGCTGAGGCAGGAGAATGACGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCT
pathogenic
4,076
Located at chromosome 1 position 17018976, the variant affecting gene SDHB—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
benign
ACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGAATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGA
ACCCAGGAGGCGGAGCCTGCAGTGAGCCGAGATCGCGCCACCACACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAACACACAACAAAACAACAACAACAAAAAGGTAGGTCTTTATTAGCACTGAAATCCCTTCTACATTGTGAGGTAAAAATAGAGGCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGACGGGCGGATGACGAGTTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCATAGTGGCGGGCGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGTGCAGTTTTTTTTTTGGGACTCCGTCTCAAAAAAAAAAAAAAAATAGCTGCTGGCAGACTATAGGATACCCCTTTATTTTTAAAATCTTTTTTGGTATGTTAAGAAAAAAAAGAGACAGGGTCTCACTATGTTGGCCAGGTTGATCTTGAAGTCCTGGCCTCAAGCAATCCTCCCACCTTGGCTTCCCAAAAGTGCTAGAAGCCACTGTTCCAGGCTTTTTTTTTTTTTTTTTTTAAAGGAATGGGGTCTCACTATGTTGCCCAGGCTGGAGCGCAGTAACTATTCACAGGCGCAATCATGGCAAACCATAGCCCCGACCTCTTGGGCTCACGTGATGCTCCCACCCCAGCCTCCTGAGTAGCTGGATTAGGGGCACACGCCACAGCTCCTGGCTCTATGGTACCTTACTTTTGAAGGGAGAAAGTTTTATATATGCTGCATAACTGTAATAACGTAGAGTGTGGAAGGAAATGTCTAAGCTATCAACGGGATGAGTTTGGAGGAGCTTCCACTTTTACTTTCCCCCTTTCTCCTTTTTTGCATTGCTTTTTTGTTTTGTGGAGACAGGGTCTCACTCTGTTGCTCACACTGGAGTGCAGCGGTGTGATCTCGGTCACCGCAACCTCCACCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACACCCACTGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCACGTTGGCCAGGCTGGTCTTGAACTCCTCACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGGCTGTGCAGTGAGCATGCCAGCCAAGGCAGCAGTGCTGTGGAGTTGATGTTTGCAGTGAGAGGCCCCACGAGGTCATTTGTGGAACTAACTGGATTCACAACTGACCAGGGTCATTGCTCTGTGCTGGAGGAATCTCAAACCTGGCCTCACCGACGTATCCAAAGACTTACCAAGATTTGGTTTTCAGTAATTCTGGTACTGAAAACTATAGAAACTGGGAAGATACAGAACACTAACACTAACTGAGTGTTCAGAATAAGTGCCAGGCATTCTCATACCAGATGAATGAAGTAGGCACAATTATGGATCCCATCTTACAGATGGGCGAATGGAGCAGCAAAGAGGTGAAGGAACTTGTCCAAGGTTGTCTAGCTGGTGAGTGGCAAAGCTGGGAACAAGCTGCAGGCCCTGCTGATGTCAGTTCCACGGCTCATCACCTCCTTCCAGCTAGGGTACCCCCACCCCCGCTCAGCTCTGAAGCCCTGTCCATCTCTCCAAGGACAAGGACTCCTGGCACCTTCACATTCCCCTGCGGCAAGTAAAGGAACAGGTTCTTTTTTTTTTGTTAATAAAGTAGAATAACATTTATTTCTTAAAATTTTTATTATACATGCTGTATTCATGGAAAACCAAGATCTTTAAAGGAACTCAAATTAGATATAAATTATGTTCAGCTCTGAGCTGGTTATAAATCATGTTTAGCATGGAAACAGTTAAACTGAAGCTTTCTTCTCCTTATAGGTTGCCATCATTTTCTTGATCTCTGCAATAGCTTTCCCTGGATTCAGACCCTTGAAAAAAGAGAAAAGATCAATAACAAATGATAACTGAAACTGAAAGGGAAAACCCACAATCTTGGGTGAAACTCCTTCCTCAGCTGGTTCAGTGTCCAAGCAAGGTGAATGCAAATCAAGTCCCTCAAAACCATAGGGGTTGGGCTAAGGGCTCTCTTCTGTCTACCTTTTTTAACATTTGAAGATGGTCAGCTCCCTCTGGCAAGAGCTCTGCCACGTTGAATTCCTTCTTGTGTGGCTCACTCTAACAGGTAAACAGGCCCAGGGCAGAGGTGCACTCTCTGACTGCTCAAAGACACTCAGGGTAGTGTCTCTTCTAGGACTACAGGCCAATGTCAAAATCAGCCAGACATCTCTAAATCTTTTACATCATCATTATTAAATAGGCAGCAGCAGAAATCAGCATATACCAGCTCTCAAAAGTATGTGGAAGAAACTACCCTCTCTATTAACCCTTTGTAAAACCATGATGATTTCAACTGGCCAATACCATTGGTATTAGCTGCAGTTTGCCCCTACAGCTGTTAACATCTGCTTTGCAGGAGGCACAATAATTAAACCCACTGAATGCCAGCTTCATTGAAGTAGAAAGTAGGAAGTACTTTACCAAGTACTTGCTTTTACCAAGCAAGTACTTGGTAAAATGAGACAAGTACTCATCTGACGTTAGTGAAGGTTCCCCTCATTTTAGAAGGATAAGTCTACCCCCCTAAAAAAGTGTTGTGGAAAGAAAGAAGAAAAGGAAAGAAAGAAAAGAGATCTTGAGAGAAGAAGAGAAAGAAAAAATATATATTTTTTTGACAGGGTCTTGCTCTGTCATCCAGGCTGAAGTGTGATCATAGTTCACTGTGGCCTGGAACACCTGGCTCAAGTGATCCTCCGGCCTCAGCCTCTCAAGTAACTGAAACTACAGGTGCGTGCCACCACACCTGGCTAATTAAAAAAAATTTTGTTTGTAGAGATGGGATCTCACTATGTTGTCCAGGCTGGTCAAAAAGACACTCTTCATATACCAACATGGGATAATCTCCAAAATATAGTGGGTGAAAAAATACAGATAAATGTGATATAAGAAAGACAGAAGAGGACACATATGCATTTGTGTGCAGCATAAAACACCTCTGAAGTTCACACAAGAATCTGACTTCTAGGGAGGTGGCTGGGTGGAGTGGGAGGGAGAATTTTCACTGTATATCCTTCTGAATCTGGATCTACCTGTGTATTTCCGGTCCCCACAGGGTCAGTAAGGGTGTTTAGACTTAGAAGGTTGGTACATACCCAATCCATGCAGGAAGAAAGAGCACTGGATGGGGAGGCAGACGGCCTAACTCTAGTCCTACCTTCCCACTGACCTGACAGTGATCTGGGGCGAGTCACTCCCCTCCCCACCTGGGGCTCAATTTCCCCATCTGTATAAGGGGATTAAACTTGATGGTTTTCAAGTCCCTTCCAGTTTCATGATCGGCCTATGTCTATGTCTCAGTCCCAACTTCCAGCCCTGTTTTACAGAAGGGAGGGCAAGGCACAGAGAACCTGTTCTTGGCTGTCTCAGTTGTCTGCTGCACCCATCCCCTCCATGCACAGGTTTGTGACCAGGAATGCACCTTAGAGTCACTCGCAGAGCTTCTGAAGAAACACACAGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAN
benign
4,078
Does the variant impacting SDHB (succinate dehydrogenase complex iron sulfur subunit B) on chromosome 1, position 17022651, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
AGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAG
AGCCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGNNNN
pathogenic
4,093
Chromosome 1, position 17022653, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
CCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAA
CCAGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAANNNN
pathogenic
4,095
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 17022655, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): what disease(s) if pathogenic?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
AGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACC
AGGCCCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAAC
pathogenic
4,096
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17022659 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
CCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGA
CCCACCACTGAAGATGCTATCTCTGTCTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGAN
pathogenic
4,098
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17022685 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCT
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGC
pathogenic
4,108
Is the genetic mutation found on chromosome 1 at position 17022685, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCT
CTCAAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGG
pathogenic
4,109
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 17022688, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). What disease(s) is it linked to if pathogenic?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
AAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCC
AAACAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCNN
pathogenic
4,110
The mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) at chromosome 1, position 17022691—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
CAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGC
CAAGCCCAGTACTCATGTTTTTTTAAAAAATAACATAAGGTGACATTTATTGGGTGCTTACTATGTGCCAGGCACTGTTCCAAGCACTTTTATAGCATAACTTGCCTCAGAGGTCAGTAGCTATTCACAGGCACAATCATGGTAAACCACAGTCCTGGGGACAGGACCCAGATGGAAGCCCAGGCAATAGGGAGCTGAAGCCTGTGGGCTCCCCCAGCGAGGCCACTGGAAACACAGAGGGTTTCCAGGCAAAAAATAAGTGAATTCTACAGCTTGGATTTCATGTTTTCAAACACACAGTGTGATCTTTTTTTACGGCTAACTGGCCACCCTACAGTTTTCCACCTTGCCGCCCACTGACTCACTGCAACTTTTGAGTGAAATCACCCACAGTCTTTGCTCGGAGGGCAGCCGTGTTCTGAACCACACAGCCCTAGCCCTTCCCTGCCCACTGGGCAAGGCTGACTGGACCAGGGCTGACACCTGCTATGGTTTGAATGTGTCCCCAAAAGCTCATGTGTTGAAAACCTAATCCCCAATGCAACAGTATTGAGAGGTGGGACCTTTAAGAAGTGATTAGATTATGAAGGCTCTGCCCTCACAAATGGATTGCCATTATCATAGGAGTAAGTTCCTGATAAAAGGATGAGTTTGGATTAGTCAGGTGTGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGGAGGTAGGAGGATCACTTAAGGCCAGCAGTTCCAGGCTGCAGTGAGCTATGATTGCGCCACTGCACCCCAGCCTGGGCAACACAGTGAGACCCTGTCTTTTAAAAAAAACAGATGAGAGGGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATAGAGAAACCCTATCTCTACTAAAAATACAAAATTAGCCAGGCATGAGTGGTGCCTGCCTGTAATCCCAGCTACTCGGGAGGCGAATGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGTGGTGAGCTGAGATCGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCTGTCTCCAAAAAAAAAAAAGGCTGAGCTTGGGCTCCCTTTCTCTTGCCCTTCTGCCTTTTGCCATGGGGTAATACAGCACGAAGGTTCTTGTTAGATGCTGGCGCCAGCCTCTAGAGCTGTGCGTCAAATAAACTTCTTTATAAAATTACCCAGTCTGAAATTCTGTGATAGTACCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCNN
pathogenic
4,112
The genetic variant at chromosome 1, position 17023966, affecting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease name(s) if pathogenic?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
CCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACA
CCACAAAACAGACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCATGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACANNNNNNN
pathogenic
4,129
The mutation impacting SDHB (succinate dehydrogenase complex iron sulfur subunit B) on chromosome 1 at position 17023977: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Carney-Stratakis_syndrome', 'Gastrointestinal_stromal_tumor', 'Mitochondrial_complex_2_deficiency,_nuclear_type_4', 'Paragangliomas_4', 'Pheochromocytoma']
ACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAA
ACTGAGACAGAACCTGGCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATTAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCA
pathogenic
4,135
A mutation at chromosome position 17023993 on chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']
GCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGA
GCCAAAGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGANN
pathogenic
4,141
Considering the variant on chromosome 1, location 17023998, involving gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
AGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACT
AGGGCAGCCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTNNNNNNNNNN
pathogenic
4,143
Does the variant on chromosome 1 at location 17024005 affecting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
CCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTG
CCGGTCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCA
pathogenic
4,144
Mutation at chromosome 1, position 17024009, within SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
TCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATC
TCTGTAGCCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTAT
pathogenic
4,147
A genetic alteration at chromosome 1, position 17024016, in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']
CCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAA
CCAGCTGTGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAA
pathogenic
4,151
A mutation at chromosome position 17024023 on chromosome 1 in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder']
TGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACA
TGGCCTCTGATGTGCAGGCATGAGAAGGTGAGCTGGGCCAATGCGACACCCTCTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACAN
pathogenic
4,154
Mutation at chromosome 1, position 17024075, within SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate the disease(s).
benign
CTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCA
CTCAGGAAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCC
benign
4,172
The chromosome 1, position 17024081 genetic variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate disease(s).
benign
AAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCT
AAACTGTGCTGAGAAGTGCTGGGAGGCAGGCGGGTGGCTGAAGCTGGAAGTGTGCTGGGAGGCAAAATCCAGGCCAGAGTGAGCCAAAAGCAGCAGCAAATGCGAGCAGGAAGAGGAACGAAAGCCAGAGCTTTGAGTCAGAGAAAACCTCCACAGAGCCGAAGGAAAGAACAGGCTGCTAGAGAGCAGAGCAGATTAGCAGCTGACATCGCGAGAAAGATGGAGAAGAAATGAAGTCCTCACAGCTGCCCACGTTCCAACGGCTTTCGCTTTCTGTTTCCTGGGAAGGTTGAACGCAGGTACCTGCTCATGGGTTCCTGTGCATCCTTAACTCCCACAATGTCCCTGTGTAGCCTACAAATAAAGCCTGCTCCTGAGGTGGCCCGAGTCAGTCTACTCCTTGCAACTAAGAGCCAAACTAGCCCCTAGGCTCACACTGAAAGGACAGGCATATGCTGGTCCCTTTCCTTCTCAAATGACTAGGGTTGCTCTCTGCCAATCACCTCTTTGTGAGCACATGCTACTTCTGGCGTGTCAGCTCTGAGGCAGAGCTGAGGGTCACCAGCCCCACGTACCTTAGGACAGGTCCTTGTGCAGTTCATGATGGTGTGGCAGCGGTATAGAGAGAATGGGTCCTGCAGCTTGGCCAGGCGCTCCTCTGTGAAGTCATCTCTGGAGTCAATCATCCAGCGATAGGCCTGGAAAACCAGGGATGATTAGCTGAGCTGCCAATCAACAGGCCAGAGCGGCACCCTGGCTCAACTCAAAGCTCTGGGAGTGCAGAGGAAAGGGAATTCACTCAGCTTAGATGCCTCATCTCCATACTCTTTAATTCTTGTCCATCTTTCAAGGAAAGGTTCCCAACACTTGTAGCTTCACTTGATTAATGGTCCCTGCAAACCTTTGATCCATACTGCACCTGGTACCCGGGTGCTTAATTATACACACTGGGTATCATCTCCTAATTATTTCACATTGCTCAATAGCTTCCTACCCAGCTTATAATTTGGTGAAGGCAGGGACTGTATCATATAACTCTTATCTGTCTTCATGGCACCTACCCATGCTGGACTTGCTGTCTCTGAGTAAAGGAATGATTTAACAGACCTGTCTACAGATAGTATTTGTCCCACTTAATGATTCTTTGAACTTACACAGCGCTCTCAGCAGCCTGAGATCAGCAGGCTGAAACGAGTTAATCACATGACCATAGGCCTGCTCTAGCAGTGTTACTTAGAGGACCTCTACATCCCCAACTCGGAGCAGCTGGCAAAAGTGACAAGTATGAGTGTACTTCATTATCCAATCTTCACATGGCTGGGAATCAATATTGCTCATGTGGTCACACAAACCTGTAACTTCTCTTTTTGTGGGAAAATGAGAAAGAGAAGTTGGTTTTTGAGTTGCCTAGAGTCTGTGAAAAGCACGTATCTAAAAAAGCACAAGCTTTCTGGGAACAAAGACAGTGACTTTCTTTGCAGTGAACATCAATACTATTTTCTTTCTAAGCAACCCCTAAATCCAGGCTTTCATTAGCTGGGAAACAGCTTCCAATCTCATAGCTGGGCAGCTGCCCTTCAAAGACACTGCTTTCTCCCCTGCTTGCTCGCTACAAGTCTTATGTTACAAATCCTATGAGAGGGAGAGGGGGAGCCTCTGACCACCAGGCAAACGGAAATACATTTTAAACATCTGCAAGGCATGGTTTGCACCCCTTTGGGGTGACCCTCACTGCACTGAAACAAAGGCAATTTGCAGACAAGGCCCCAGATTTACCGAAAGCAAGTGAATACAATGCAACCAATTACCCTGTTTGGACTGGATGGCAATGAAGGAAACCAGGCCCCTCAGAATGGCTGGCTTACAGCAATCTATTGTCCTCTTGGACTTCTGGATGCTTGAGTTTCAATTTCTCTTAAAGCAATTAAGGAGCACCTCACCTGCATAAGAACTGCAGGCCCCAGATATTTGTCTCCGTTCCACCAGTAGCTGGGGCAGCTGGTGCTACAGCAGGCACAGAGAATGCACTCGTAGAGCCCGTCCTGTATGGGGAGAAAAGAGGGAGAAAAGAGAGGCAGGAGCTTGTGACGGGAGAGACTCTGCTATGTCTTCAGCTGATTAAATGTTACCTTTGGGGTCAGTGCATGAACAAAGTGCCTACTTGCATGTGAATTTTCTTAGCAAAATCCAAGGGGTGATTTGCAGATATTTAGCAGATTAATAAAGATCTTGCAAGTGAAATGTAAACATCTGCCCAGGGTTCTTAAATCCACGTATAGTGCACTTTCCCTTTAATAAACAAGAACCTCTCACTTGTCTAAAAAAGAAATAGAAAACAAGAACACAAAAACAACTCCCATAAATTCCAGCTTCCTGGAATGAGGTCAAGACGGGAGAGATTCAAAAGCCTAGGGGCTGAAGCAGCAAGAGTCTGTAGCTGCTTCTGCCCTGGGCTCAGCAGAAGGGCCCTCAGGTTTTCACTGGGAACATCAACATCATCCCCAGTGACTGCCACTGCCAATCCTGACGGAGGCCCTGCGCCTTACACGCTTTCCTTAACTGATCATCACAGTAATCCTGTGAGGTGACTCCAGCAAGTTCCACTTACAGGTAAGGAACCAAGGCGAGGAGAGTGAGTTAGGCCATGTGCCCAGGGACGTGCCACTATAGGCAGCAGAACCAGGATGTGGCCCCGGCAGCTGGCTCTGGCTTCCTGCACTTTCACACCTGCCACACTGGGTCAATCTGCCCAACAAGTCCCAAACACAAACCGGACTTTCTGAGTTTGGAAACAACAGAAATGGATTAAAAACAGCAAAATGAAAGGGGCCCACTGACACCTGAAGTGACAGTTGAGAACAGATGAGACAGAACTGATGGTTGTGATTGAACCATGAGTCTTCAACCAAATCTATGTTATGTCCAGACAGCTGGTGGGAGTGTCAACTGGCCCCACTGGTCTAGAAGGCATAAGGTCACAGGATTAAGAGCCTTAAGAATAGTCATATTCTTTAACCCACTCCTAGAAAAATCTGTAATAAGAAATTAGAATGTTTTGGGCAGAACTTGAAGGATAAAGATGTTCATCTAGCCTTATTTCTAACAGTAAAAAATTGGAAACAATTTCATTGTCCAGCAACAGTGAAATGGTTTTATGGCGCATGGTGCATACATCTGAAGCAGTAGAAAGCAAAGTGTAAGTTAATGCTTATGAACAATTTTAAGAATATGAAGAAAATGCTCACAATAACATAAGTGAAAAAAGCAGGATATAAAAGCATATTTACATTTTGATCCCAGCTACATAAAAATATAATGTAATAAACAAAAAACAAAGGAAACTATAAATATTAACAGAGATTATGTTTTGGTGGTGGAATTATAAATTCTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTGTGTGCCCCTGGCTGGAGTGCAGTGGCACAATCACAGTTCACTGCAGCCTGGAACTCTTGTGCTCAAGCAATCCTCCCATCTCAGCCTCCTGAGTAGCTGGGACTATAGGTGCATACCACCATGCCTGGCTAAGTTTTAAAGTTTTTGTAGAGACAGGGTCGCCCTATGTTCCCCAGGCTGAAAATTATAGCTTATTTAAAAAATGATGGAGCCTCTCTGAACCTATTTTGGTTTGGGGGCTGCCCAATTAAAAATAAATACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGAT
benign
4,175
A genetic variant on chromosome 1, position 17027751, affects the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
TACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCA
TACATACATAAATTTCTCCACATTTTCCAATTATTTATTAAGTTCAGCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTC
pathogenic
4,180
Is the genetic mutation found on chromosome 1 at position 17027797, within the gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Paragangliomas_4', 'Pheochromocytoma']
GCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCC
GCATACTAATTTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCN
pathogenic
4,190
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17027807 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
TTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCC
TTAAGGAAGCCAAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCN
pathogenic
4,191
Does the genetic variant at chromosome 1, position 17027818, impacting gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
AAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGT
AAAAAATGTTAAATGTTTGGTATGTAAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTN
pathogenic
4,194
Variant at chromosome position 17027843, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
AAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCAT
AAATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTCCATAGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCC
pathogenic
4,201
Clinical classification of chromosome 1, position 17027844, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4']
AATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATG
AATGAGTAAATGAGTAAATTTCTATTACAGGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTCCATAGAGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCG
pathogenic
4,203
Is the genetic variant on chromosome 1, position 17027873, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), benign or pathogenic? If pathogenic, what disease(s) is indicated?
benign
GGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAG
GGTTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCT
benign
4,207
Considering the variant on chromosome 1, location 17027875, involving gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
benign
TTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGT
TTGGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTA
benign
4,208
For chromosome 1, position 17027877, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
benign
GGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTG
GGGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGN
benign
4,209
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome 1, position 17027878—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
benign
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTA
benign
4,210
The chromosome 1, position 17027878 genetic variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, indicate disease(s).
benign
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTT
benign
4,211
Does the chromosome 1 mutation at position 17027878 within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
benign
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGNNN
benign
4,212
Evaluate if the mutation on chromosome 1 at position 17027878 in SDHB (succinate dehydrogenase complex iron sulfur subunit B) is benign or pathogenic. Disease name(s) if pathogenic?
benign
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGG
GGCATCCCAAATCTGAAAATCTGAAATCCAAAATGTTCCAAAATCTGAAACTTTTTGAGCACCAATATGCTGCTCAAAGGAAATGTTCACTGGAGCATGGATTTCAGATTTCGGATTTGGGGTGCTCAACTAGTAAGTGTAAGGCAAATATTCCAAAATCTGAAAACATATGAAACCCCAAACACTGAAACCCAAGCATTTAGGATAAGGAATACTCAACTTGTATCTAGAAAACCAAACATGCTCAGGGGAACTCTTCAATCCCTAATAATACCACATCAGGGAGATGTTCACTAGCTACGCACCAGCCTTGCCTAGGAATGCAAAGGACTCGCTGGGCCAGAGGGCCCGGTTCAGCCTGGACTCTGGGATGCACAAGACTCTGGGAGGTAGAAACTGAGGAGCAGAGCTGCAGTCTGAGAAGAGCAGCTCTGAAGTCTCATCCCAGGCTTACTCTGACTTGCAGGCCACTGTGCTGACCCTCACTATCTTGATGGTGACAGACTGGGCACACTTACTAGGACTCCCCTTTTTCTCTTTTCTTTTTTTCTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGAAGTACAGTGGCACAACCTTGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGAGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTATAGGTGTGAGCCACCACACTCAGCTAATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGNNNNNNNNN
benign
4,213
Clinical classification of chromosome 1, position 17028579, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? Disease(s) if pathogenic?
benign
ATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTT
ATTTTTGTATTTTCAGTAAAGATGGGGTTTTATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTNN
benign
4,215
Variant at chromosome position 17028610, chromosome 1, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGA
ATCACGTTGGCCAGGCTGGTCTCGAACAACTGACCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGAN
pathogenic
4,222
Variant in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B), located at chromosome 1 position 17028643: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
CCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTT
CCTCAAGTGATCCGCCCACCTCGGCCTCCCTAAGTGCTGGGATTACAGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTT
pathogenic
4,226
Is the chromosome 1, position 17028689 variant in SDHB (succinate dehydrogenase complex iron sulfur subunit B) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
AGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGC
AGATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGATAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGA
pathogenic
4,235
Is the genetic change at chromosome 1, position 17028690, within gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma']
GATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCA
GATGAGCCACTGCACCTGGCCGGACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCANN
pathogenic
4,236
Gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) variant at chromosome position 17028712 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Hereditary_pheochromocytoma-paraganglioma', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder']
GACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGTTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTG
GACTCCCCTTTCTTAACGTTTTATGGGCAACAGGAGAGGATGCTAAATATTTACCAAGTCTCAAAAGGTAGAATTAATTTATTCATTCATACAACTGATACTTTTCATATATTCACATATATGTATATGTTTTAGAGACAAAACCTGGGCTATGTTGCCCGGGCTGGCCTCAAACTCTCAGACTCTCAAACTCCTGGGCTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTATCAGAATGCACCACTGCATCTGGCCTTTTAAAAAATTTATATATATTTTTACAGTATTTACATAACTAATATTTATGGATAAAATAACATGCGCCAGGGCCTAGGGATCCAGAAAGGAAGAAGACACAGCCATTGCCCTTGGCCCTGTGCAGACCTGCAGGTGGGGCTCTGTCTCCATTTGGTCCCCTTCCTACCTCACGTCCACAAGTATGCAGGGAGTATGCAAATCAGAGAAGACTTCTTCGCAGAGGAGTAGAAGTAGTGTAGAAGAAGAAAGACTGAAAACTTGATAATGATGCCTCCGCTTTAAGATTTTACAGCTTGTACACAGGAATGGCAACTCCCAGAGAGTGAGCAGGCCAGGAATAATCCCACCCCACAGATCACCAGAAGTATGGTGTCAGGAAAGAATATCGATGACTCTGTTTTGCCATTAACATTTCACTCCCATTTGTAAAGCAGGACGGTGGTAGTTACAACTGGCCAGCATATGTGTTTCATTTTGCCCCCAGTGAGGGAACAGTTCTGACTTAGTGGTCACTTTTTAAAGCCCAGGCAATTTACATACTGGTTTCTTTTGAAAAAGATGGAGTAGCCACACAGCAACCACCCGCCCCTGCAGGCGGGGCACAGGGCTCTAGCTCCTTGGTCCACTCTGGGCCATTCACGGGTTCACACTACTCACCCGGCCCTAAGAGGATGAGTGCCCCACCCTTGTGCCAGTTCCTCTCCAGAATACACTAAATGGCTTGCATCAGCTTATGTTCCCTGCCAAGCCACACTCCTGGCAATCATCTTTGCAATAAATTCTTCAGATTGAAACAATAAATAGGGACTAATGACCAGTTTCTCACGCTCTTCTATGGACTGCAGATACTGCTGCTTGCCTTCCTGAGATTCATCCTTCTTCTTCAAATAAGGCTCAATGGATTTGTACTGTGCATAGAAGTTGCTCAAATCCTGTGGTTAAGAGGAAGAAGAAGAAGAAGAAGAAGAAAAGGATCAGATTCCATCATCACCTCAGCTTTATTTACCCCATTTCTTGGACACTGACTACTCGTCCACTCTATGCCAGGCAGAAGCCAGACTCTTTTCCTTTGTCATGAATATATGCAAAGATTACAAAAGGAAAAATGGTCACAATGTTAAGCATGGTTAGGAAACCTCTCCCTCACCTACTTGGGAAACCTGCCAATCCCACAGTCCTTTCTGCCCTTGAAAACACCACGTCAGCAAAGGTGTTCAAATATAGGGAGGTAGAAATTAAAGTGGGACTCATAAACAGCTGTTGCTTTCCCAACTGGCATTTTCCACATGATTTCTTTGTAGTTATGGCCAAATTATTCATTTCTGGGAATGTTCCAATTCTAAAATTCTGTGCCCCATTATTCTCAAACAAACCTCACCAAATGAGCTGCTGGAGGATTTTCTAGGCGTTTATCTTCTGCCATTCAAATTCTTTAATTAAACTCTGGCCACACTGTCTCAGATCTGGAGATTTTCCTAATCTCTCAGTGACACTGTGGTCCTCCTCCTGCCATAATATAGGAAACAGTCCCATCTATTTACTATCTGACTAGAAGAGGAGCCTTAAATACTCAAACAAATCCTGCCCTGAAAAACTAATAGCGTAACACACATAGCACTGCCCCCCATGCAAATAAAAACAAAACCAGAGAGATGCAGAAACTCACGGGAACAAGATCCTTTATCACATACATGTGTGGAAGAGGGTAGATTTTTGAGACCTTATTGAGGTTGGTGTCAATCCTTCGGGTGCAAGCTAGAGTGTTGCCTCCATTGATGCCTCATTGCACAAGAGCCACAGATGCCTGAAAGAGACACACATTTAACACATCCTCACCCATATCCGGAATCAGTCCTGCCCCAAATACTTTCTTCTGGATCCTCCTTGCTGTGCCATCAGGGGCAGCACTGACATGCAACATTCCTCTGACAGAGGTGCCTGTTGGCTTTTCTCCCTTCCTTCCTTCTTCCTGCCTCGAATGTGGTTCTAATGGCTTGAGTTCCAAAAACTACTCTATGACCATGTGGCAACCTTGAGGTTAGAAGCCACATGCCAAGTATGGCACTGGAGGAGGCCAGAGGCCTGGGCGCTGCTGGCACCATGGAGTTTCCACAGCAGTTCTAGCTCCATGTGTCACGTGTTTTGAAGAAAAATCAGCCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAAAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGTCCTCAATGCCTGAGCTCAAGTGATCCTCCCACCTCAGCCTCCTAAGTAGCTGGGACTACAGAAGTAGCCCACCACACCCAGCTAATTTTCTGGTATTTTTTGTAGAGACGAGACTTGCAGAGACAGGGTTTTGTTATGTTGCCCAGGCTGGGCTTGAACTGCTGGGCTCAAGTAATCTGCCTGCCTTGGCCTCCCGAAGCACTGGGATTACAGGTCTGGGCCACCACACACCCGTCAAGCCTATTTTTTTTTTTTTTCTTTGAGAAGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGCCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGGGGTGGGTGTGGTGGCTCACGCCTGGAAACCTAGATTTTTTAAAGCCACTGTTATTTGAACACAAATCTAACAGACACAATACCCAAAAGTAAAGTAAATCAACATTGTCTTGGTCATCTTAAGGTTGAAGTGACCTGGATACAGATTATTAAGAGATAGCTCTTCTTCTTTTTTTTTCTTGGCTGAGTCTTGCTGTGTCACCCAGGCTGAAGTACAGTGGTGGAGTCATAGCTCACTGTAGCTCACTTTAGCCTCAAACTTCTGGGCTCAAGCGATCCTCCCACCACAGCCTCCTGAGTAGTTGGGACTACAGGCACATGCCGCCATGTGCGGCGAATTCAAAAAAATTCTTTGTAGGTTGGGTGAAGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGTTTGGCCAACATGGTAACCCCCTGTCTCTACTAAAAATATAAGTCGTGGTGGGTGCCTGTAATCCCAGCTACTCAGGAGGGTGAGGCGGGAGAATCATTTGAACTGAGGAGGAGAAGGTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAGAAAAAAATAATTGTTTTTTGTAGAGCAGGTGTCTCACTATATTGCCCAGGCTGGTCTCTAACTCACGGCCTCAAGTAATCCTTCTGCCTTTGCCTCCCACTGTGTTGGGATTACAGGCCTGAGCCACTACACTTGACAGAGGTAAGGCTTCTTCTATTGTCTTCATAAAATACGCAGCATAGTACCCTGGGGCTATGAAATCCACAAAAGCTGACTCAGCATGGACTTTCCAAAGAGGAGAAGAATGAACTAATATGAAACTGAGGCAAAGCAAAGCAAACTAAACAAAAAACGTGCTGACCCAGGACCCCGACATGAGAATTTTCTTAGCCTGGACCTACTTCCTGTATATGGAAATTTCCTGGGTGTTTTGGAATTTAAAAATGATTATGTACTCTAAACCTCTAGTGCCAGTCCTCTGAAGCTGTTTTTTGAAGATCATTAGGTCAGAGAAACCTGATTGCTTGAGAAAGTTGCACTGGTTATCATCTTTTTTTTTTTTTAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACT
pathogenic
4,239
Clinically, how would you classify the variant at chromosome 1, position 17033135, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
TCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATACAATTCTGCTTTATTTTTTTTAGTCCAGATGGGTCACACCTTATGTTCTTGGTTCTGAAAGAGTCCTACAGGGAAAGGTTACTGAAAAGCATCTACCTTTCCTGTGTTGCCAGGACTTAATGGGGAAGGCTGCTGTTTAACTGCCGCAGAATGTTCCCTGAACAGCAGGACTCAGCCGAACTATCATAATATCCATCAGCATTTGCAACGCTAAATAAGATTAGCTGAATCAAAACAGATGTCTTAAAAGACTTGAAATGCTTGAAATGTACAGCTGAACAGATAAAAAGCCATGGGCCGGTATCAATACTGGCTTTTCCTTTTTTTTTAAGGTTTTCTTAGAAAAAAGCTCAGTGTCCTCACAGAATCAAGCTACTCTCTGCTTTTGTTTTATCCCAGGTGTTCCAAGCCAAGTCAGTGCCTGAGAGAGCAGATCTGGAGTCTGGAGTCTGACAGCTTTGGCTGACTCCCGGCTCTCAAGTCACTCTCTATGTGTCCTTGTGGAAGTCCATTACCCTCTCTGGGCCTCACCTTTAAATTGAAGGTAGATAATAAGCACAGTCATCTACCTCATGTCCAGTGCACAGAACAGAGCCGGGCACACAGTCTGGCTCCACGGACATCAGGCCAGTCGGTCTTCACTGCACCCTGTGCAATTTTTGCTATACCTGAGAACCACCTGAATCAACTTTCTTTAAAGTATCTCTTGGGTTTTCTTTAACTTGTTTTGCTTAAATTCACATTAAAAAACCACTTATATCCCTATTATACCATCATTAGTAATTATATTTTTCTTTTTTTTTTTTTTGAGACTGTCTCGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCACCTCCCGGGTTCCTGCCTCAGCCTCCCGAGTAGCCAGGATTACAGGCGTCCGCTATCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGTTGATCTCGAACTCCTGACGCCAGCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCAGTAATTATATTTTTCTAATACAGAAAATGAATACATTGCTATTCATGTAGAAAATGTTAGTCTGCACACTGCCTCAAATGGGCTCATGTGGCACCAGCAGCACAAGTAACCACATGCTGAGGGAGACACTGTACCAGCCAATCCAGAACACAGCTACCAAGGACATGTCATGCTGGGAGCTGAGGGAGACTCACACATCTCCCCTGCTGGACAAGCATAAGTGCCAGACAGAAACTCTCCACTGCTCCCTTAATAAAAGAGCTCAGCAGCATGGAAGGTGCCAGCCAGCAGGTCCTAGCTAGGCCTTGAAGCGTGGAGCAGCTCACAGGGACCGCCAGATGCAGTAACCACAGGATAGAATGCTCCTGAAGGAAAGTAAACTCAGAAACCAGAACTTGCACCATGGTTAGAATTTTGGATGCATTTACCCAAGAAAAGGAATTAGGTTGCACAGCAAGTTCACCCAGCAGAGAGCTGCAGCTGTTTTCCAGATGTCTCTATCAGCTTTGGCCAGCCCAAGCCTCTTTGGAAGACCACAAGTATCTGGAGCCCAACAGGAATGAAATGCTCACCTTCTCTGCATGATCTTCGGAAGGTCAAAGTAGAGTCAACTTCATTCTTAATCTTGATTAAAGCATCCAATACCATGGGGCCACATCTAACAAAGAAAAATATCCAGTGGTATTTATGTAACGTTCAACCTCCCTACACTTTATCATAATATAATCGGAGACACCTGGATGTATTAGCTTATCCATTTGGTCTTCTCAGGTCACCTTCGGAATTTGTTCTGTAGTTTTGTTTTTGCAGATTCTTACATTTTAAGTACTGCACAGTTCTATTTTGATGATCACAGTGCAAACACATTTCTAGGAAATGGAAAGCTAAAGTAGTAGTAGACAAGTATGACACAACTTCCATACAGTGGCCGAGTTTTTGTTTTTTACTTCTGAAGCTCCCTGCAAAGTTTTTCCAAATAATTTATTTCAAATTTTAGTTTGATTTTTAGGATGTAGACAATAGTTTTAAATAGTAATTAATAATACATAACCATAAGAGAAGACATAGTACAGAGAATAAAAGACACCCAATCACTCACAGTCCCCCAGTCAAATCACTGTGAGCCTCCTAGAACATACAAGGGCAGTGACATGGTACTAAGCGGAGCATCCCTGGGCGTGGGACCTGGAGTGCCGGCCTGGCAGCCAAGAGACTGGTCTGCACCATGGCTGAGCCACTTACCAGCTTGCAGGCAAATGATTTAATTTCTGCCTAGGCATTTAATCCACTGAGTGCAGAGAGCAGCACCTGCATCCCACAGGATTGCTGGAGGTGAGTTAATACACACGAGATCTTTACAGCAGCATCTGACATATAAATCATAGTTTAACTATAATAATCATCATGCAGAAACTGTGATTCTACGGAAATTACTCTCTGAACCTCAGTTTATCTGTAGAGTTAATATTTACACCACAGGGTTACTGTGAAAATTACATAAAAATATGTAATTTTTCATAGTACCTGGCATACAGTAAGTGCTCCACAAATCTATTTTCTGGTTGCCACCCTGCCCCCATTCCACTCACTAATTTTCTATGCATGAGATTAAAAATATACTTAAAAATACGTCATTTCCTTTAGTACTATCTGTATTTCATTTTTTTTCTTTTTTTTCTTGAGACGGGGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGATCTGTAACCTCCGCATCCCAGCCTCAAGAGATCCTCCTGCCTCAGCCCCCCAGTAGCTGGGACTACAGGTATGTGCCACCACATCCAGCTTAATTTTTGTATTTTTTTGTAGAGGTGGGATTTCGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGATTCTCAAAGTGTTGGGATTATGGGTGTGAGGCAATGGTGCGATCTCGGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCGGCAAATTTTTGTATTTTTAGTAGAGATAGGTTTTCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTTCCCAAATGCTGGGATTACAGGTGTGAGCGACTGCGTCTGGCCCATTATCTGTATTTGTATCAGCACTATGTAGACGTCCTTTCTGCTGGACCTCTGCTAACACTGGGAATTGGAAGCTTTAAAAACCTTTGCTATTCTGATACTGGAGAAGTGTTATTGTTTTCAGTGTTTTAAATCGAGACTTTTGAATACTACATAGGTTGAATGTTTGTCATAAATTTACTAATTTTTCTTTATTTCCCAATTATTTATTGAACATTTACTCTGCCAGGTTCTGTTCTAGATGCTGGGGATGTAGCAGAGAATAAAAGAGACGAATACCACCTGCCCGCACAAAGCTCTGTTCCAGAGGACTCATTCTAGAGACTCAGTCTGTCCACATTCTTTGCCTCTGTTTACCAGGGTCTTGGAAATTCTTTTTCATGATCTGAGGCTCTTATATATTATATCTGTTGCCATTTCTGCTTCCTCCCTCACTGCCAATAGTAATGTGCTATTTGACTTCTAATTTTGGTAACAGAATTTTAAACATACATGAGTTAAAT
TCGGTTATCACTTTCATAAGACTAGAAAAGACAGTAAGACTCTCCTTCTCCTGTAAATCTTAGAAAGAGTGTAAGGGAACCCAAAGATGTGTCTTAAGCAAATACTCCTAGAGTTCCCCAAGAGACTGGATATTATCAATACATTTATGTATACCTGGCATCCAACTAGAGCAGTTTGCTTTTACAAGAAATGGCATAAAAATTAAAAAAATAAATCCAATGAACTTTCTCTCAAAAAGGCTCCCTGGGAATTCTCTTACAAGATGGGAATTAAAAAAAAAATAAGAAAAACAAGATGGGAATAAAAAGGAGTAGCAATTGATACAATTCTGCTTTATTTTTTTTAGTCCAGATGGGTCACACCTTATGTTCTTGGTTCTGAAAGAGTCCTACAGGGAAAGGTTACTGAAAAGCATCTACCTTTCCTGTGTTGCCAGGACTTAATGGGGAAGGCTGCTGTTTAACTGCCGCAGAATGTTCCCTGAACAGCAGGACTCAGCCGAACTATCATAATATCCATCAGCATTTGCAACGCTAAATAAGATTAGCTGAATCAAAACAGATGTCTTAAAAGACTTGAAATGCTTGAAATGTACAGCTGAACAGATAAAAAGCCATGGGCCGGTATCAATACTGGCTTTTCCTTTTTTTTTAAGGTTTTCTTAGAAAAAAGCTCAGTGTCCTCACAGAATCAAGCTACTCTCTGCTTTTGTTTTATCCCAGGTGTTCCAAGCCAAGTCAGTGCCTGAGAGAGCAGATCTGGAGTCTGGAGTCTGACAGCTTTGGCTGACTCCCGGCTCTCAAGTCACTCTCTATGTGTCCTTGTGGAAGTCCATTACCCTCTCTGGGCCTCACCTTTAAATTGAAGGTAGATAATAAGCACAGTCATCTACCTCATGTCCAGTGCACAGAACAGAGCCGGGCACACAGTCTGGCTCCACGGACATCAGGCCAGTCGGTCTTCACTGCACCCTGTGCAATTTTTGCTATACCTGAGAACCACCTGAATCAACTTTCTTTAAAGTATCTCTTGGGTTTTCTTTAACTTGTTTTGCTTAAATTCACATTAAAAAACCACTTATATCCCTATTATACCATCATTAGTAATTATATTTTTCTTTTTTTTTTTTTTGAGACTGTCTCGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAAACTCCACCTCCCGGGTTCCTGCCTCAGCCTCCCGAGTAGCCAGGATTACAGGCGTCCGCTATCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAAGGTTTCACCATGTTGGCCAGGTTGATCTCGAACTCCTGACGCCAGCTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCCGGCAGTAATTATATTTTTCTAATACAGAAAATGAATACATTGCTATTCATGTAGAAAATGTTAGTCTGCACACTGCCTCAAATGGGCTCATGTGGCACCAGCAGCACAAGTAACCACATGCTGAGGGAGACACTGTACCAGCCAATCCAGAACACAGCTACCAAGGACATGTCATGCTGGGAGCTGAGGGAGACTCACACATCTCCCCTGCTGGACAAGCATAAGTGCCAGACAGAAACTCTCCACTGCTCCCTTAATAAAAGAGCTCAGCAGCATGGAAGGTGCCAGCCAGCAGGTCCTAGCTAGGCCTTGAAGCGTGGAGCAGCTCACAGGGACCGCCAGATGCAGTAACCACAGGATAGAATGCTCCTGAAGGAAAGTAAACTCAGAAACCAGAACTTGCACCATGGTTAGAATTTTGGATGCATTTACCCAAGAAAAGGAATTAGGTTGCACAGCAAGTTCACCCAGCAGAGAGCTGCAGCTGTTTTCCAGATGTCTCTATCAGCTTTGGCCAGCCCAAGCCTCTTTGGAAGACCACAAGTATCTGGAGCCCAACAGGAATGAAATGCTCACCTTCTCTGCATGATCTTCGGAAGGTCAAAGTAGAGTCAACTTCATTCTTAATCTTGATTAAAGCATCCAATACCATGGGGGCCACATCTAACAAAGAAAAATATCCAGTGGTATTTATGTAACGTTCAACCTCCCTACACTTTATCATAATATAATCGGAGACACCTGGATGTATTAGCTTATCCATTTGGTCTTCTCAGGTCACCTTCGGAATTTGTTCTGTAGTTTTGTTTTTGCAGATTCTTACATTTTAAGTACTGCACAGTTCTATTTTGATGATCACAGTGCAAACACATTTCTAGGAAATGGAAAGCTAAAGTAGTAGTAGACAAGTATGACACAACTTCCATACAGTGGCCGAGTTTTTGTTTTTTACTTCTGAAGCTCCCTGCAAAGTTTTTCCAAATAATTTATTTCAAATTTTAGTTTGATTTTTAGGATGTAGACAATAGTTTTAAATAGTAATTAATAATACATAACCATAAGAGAAGACATAGTACAGAGAATAAAAGACACCCAATCACTCACAGTCCCCCAGTCAAATCACTGTGAGCCTCCTAGAACATACAAGGGCAGTGACATGGTACTAAGCGGAGCATCCCTGGGCGTGGGACCTGGAGTGCCGGCCTGGCAGCCAAGAGACTGGTCTGCACCATGGCTGAGCCACTTACCAGCTTGCAGGCAAATGATTTAATTTCTGCCTAGGCATTTAATCCACTGAGTGCAGAGAGCAGCACCTGCATCCCACAGGATTGCTGGAGGTGAGTTAATACACACGAGATCTTTACAGCAGCATCTGACATATAAATCATAGTTTAACTATAATAATCATCATGCAGAAACTGTGATTCTACGGAAATTACTCTCTGAACCTCAGTTTATCTGTAGAGTTAATATTTACACCACAGGGTTACTGTGAAAATTACATAAAAATATGTAATTTTTCATAGTACCTGGCATACAGTAAGTGCTCCACAAATCTATTTTCTGGTTGCCACCCTGCCCCCATTCCACTCACTAATTTTCTATGCATGAGATTAAAAATATACTTAAAAATACGTCATTTCCTTTAGTACTATCTGTATTTCATTTTTTTTCTTTTTTTTCTTGAGACGGGGTCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACGATCTCAGATCTGTAACCTCCGCATCCCAGCCTCAAGAGATCCTCCTGCCTCAGCCCCCCAGTAGCTGGGACTACAGGTATGTGCCACCACATCCAGCTTAATTTTTGTATTTTTTTGTAGAGGTGGGATTTCGCCATGTTGCCCAGGCTGGTCTCTAACTCCTGGACTCAAGTGATCCTCCTGCCTTGGATTCTCAAAGTGTTGGGATTATGGGTGTGAGGCAATGGTGCGATCTCGGCTCACTGCAACCTCTACCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCGGCAAATTTTTGTATTTTTAGTAGAGATAGGTTTTCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCCTTCCCAAATGCTGGGATTACAGGTGTGAGCGACTGCGTCTGGCCCATTATCTGTATTTGTATCAGCACTATGTAGACGTCCTTTCTGCTGGACCTCTGCTAACACTGGGAATTGGAAGCTTTAAAAACCTTTGCTATTCTGATACTGGAGAAGTGTTATTGTTTTCAGTGTTTTAAATCGAGACTTTTGAATACTACATAGGTTGAATGTTTGTCATAAATTTACTAATTTTTCTTTATTTCCCAATTATTTATTGAACATTTACTCTGCCAGGTTCTGTTCTAGATGCTGGGGATGTAGCAGAGAATAAAAGAGACGAATACCACCTGCCCGCACAAAGCTCTGTTCCAGAGGACTCATTCTAGAGACTCAGTCTGTCCACATTCTTTGCCTCTGTTTACCAGGGTCTTGGAAATTCTTTTTCATGATCTGAGGCTCTTATATATTATATCTGTTGCCATTTCTGCTTCCTCCCTCACTGCCAATAGTAATGTGCTATTTGACTTCTAATTTTGGTAACAGAATTTTAAACATACATGAGTTAAA
pathogenic
4,272
Chromosome 1, position 17044790, gene SDHB (succinate dehydrogenase complex iron sulfur subunit B): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Carney-Stratakis_syndrome', 'Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Mitochondrial_complex_2_deficiency,_nuclear_type_4', 'Paragangliomas_4', 'Pheochromocytoma', 'SDHB-related_disorder', 'likely other unspecified diseases']
CACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGT
CACTGTAACCTGGGTGACAGCGAGACCCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTNNNNN
pathogenic
4,289
The mutation in gene SDHB (succinate dehydrogenase complex iron sulfur subunit B) at chromosome 1, position 17044816—clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Gastrointestinal_stromal_tumor', 'Hereditary_cancer-predisposing_syndrome', 'Paragangliomas_4', 'Pheochromocytoma']
CCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGGCA
CCTGACTCAAAAAAAAAGGAATTTAACTCTTCCAGTTTTAGCCACATTCTCTGACATTCTCTAAGTTTTGATTTGCAACGTCTTTATTTTCTAAGTATCTGGCAATATTTTTTACGTGTTCCTGATCAAATAGTTAGAAGTGTACTTTTTTTTAGTTTCTAAGCAGTAGGGTTTTTTGTTTTATGAGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAATAGCTGGGATCACAGGCACCTGCCACAACGCCCAGCTTATTTTTATATTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAATGCCTGACCCCGAGTGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTATAGTCATGAGCCACCGCGCCCGGCCTGTTTATATTTTTAATATGAGTTTAGTTTTATTGTATTTCGGTCCAAAACTGTGGTCTGTGCAATTTCTATTCCTTTGAATTTTGCTAGGGACTTTTGGTTGCTGAGTATTTGAAAATTTTGTCTATTTAAGAAGGTTATATATCAATTAATGCTACCTCATTAACAGCACTTACTTGTCACCACAGAAAGTCAAAGTAAGCATTTAGAGTATTCGTGGTATTCAAACTTTTTTTTGGTGCCACAGAAGCTTTTGTTTGAAACAAATAAAACACTTATTCACTTACACATAAAACAGATCAGAGAACAGTTCTGGTTATATGGGGGCGTGGAGTGGAGCAGCAGGAGGCTAGAGACTAACTTGCTAGATTCTTTCTTTTCTTTGGCTAACTGTGGAGTTCCTTAAAAGTGAAAGATGTTGGAAAAAGAGTGGTTTTGAGAGATGTGATGTGAAGAAGAACTCAACCTGCTGCTGCTGCTTTTGACGATGGAAGAAGAGGCCAAGAGCCAAGGAGTGCGGCAGCCTCTGGAAGCTTGGAACAGCCCTCAGCTTACAGTCAGCAGAATGACAGAGACCTCGGGCTCACAACCACAAGGAACTGCATTCCACCAATAGCGCAAATGAGCAAAAAATATTTTCCTCTAGGCTCCAGAAAGGAATGCAGCCTGCTGACACCTTGATTTTAGTCTGATGAGACTATACCAGTCTTTTGACCTACAGAACTATAAGATAATACATTTAGGTTGTTTTAAGTCACTAAGTTTGTGGTAATTTGCTCTGACAGAAATAGAAAACTAACACGCCAGTCCAATTTTTAACATTTTAACCACATCCCTACCTTGTCCATTCAAGGCAAGTTTCTGGCGGTTCTGTTATTATTATAGAAAACACAGGTCCAGATGTATAAGATATAATCAATACATTCAGCATTAAAAAAATGGTAATATATTAAATGACTTTAAATACTGTGCATAAAGTTAATTATACCAGTATTTCTAGAAATTTGTCATACTTTCATTTGGGAATTATTTTGGTATTATTCTTCTGAATCAGGTAACAACCTCATTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTTGTGCCCCAGCCTCCTGAGTGGCTGGGATTACAGGCATGAGCCACTATACCCAGCTAATTTCTGTATTTTTAGTAGAGAGGGGAGTTTCACCATGTTGGCCACATTGGTCTTGAACTCCCAACCTCAGATGATCTGCCCGCCTGAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCCAAGCTCATTCTTGTTTTAAAAACAGAGCCATCGGATGATCTCAGATTTTTAAGCCTTCCAAGGATGTGAAAAGCATGTCCCTAAATCAAATCAAGAACTCTCCTTCAATAGCTGGCTTTCACAGAGATACTCACTTATTAAGGTCAACTTCATAAGTCTGCATATGAGGTTTGTCTCCAGCCTTGTCTGGGTGTCCCATCGATAGATGGCAAATTTCTTGATACGGGGAGCTGTGGCTGCAGCTGTCTGGGCTCCTCGGGAGGCCTGAAATTTTTTAAAGTTCACAAAAAGGAAAAAAAAATTAGAAATACAAGATAATTCCATTTTGCTGGCACAACAGATGTAACGCTGGATATAAACTCACACATTACTGACACATAATCTTCTTAGAAAAGGCAGGCATTCAATATCCAACAAGTATTAAGCACCTATCATATGCTAATATATCAGACATGGTATTAGGGGCTAGTGACACAGCACTTAATACACAAAAACCTTCATCTTCACAGAACTTACTTTGTAGTGAACAAGAGTTAAATTAAACATTCACGATGAATATAAAGAGCGATACTGTTGGGAAAGTACAGGGAGCTCTGGATGAATACAGCAGAGACTTCAATGAGTGAAGAGTCAGAGAAGGCTTCCTCACATGTCATCTAAGTGGAGGCTTGACAAACCAGAATTAAGGGGAAGGAGTGTGGGGTGTGGTCTGAGGGTGGTGGCTCATGCCTGCAGTCTCAGCACTTTGGGAGGCAGAAGTGAGAGAATTGCTTGAGCCCATGAGTTTGAGAGCAGTCTGGGAAACATGGCAAAACCCCATCTCTACAAAAAATAAAAAAATTAGCTGGGTGTCGTAGTGTGCGTCTCAGGAGGCAGAAGTGGGAGGACTGCTTGGGCCCGAGAGGTTGAGGCTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCTTTTTCAAAAATACAAAATAAAAAAGAAAAAAAGAAAGAAAAGACTATACTCCAGGACTGCTAATTTTTAAAATAAACTGATATAGAAAAGTAAAAACTCGGAAGGTTAATTGACTAATTACAAAAAGATGCAGTGGTGTTTATTACTGAGGCAGGAGAACAGGGTTTAGAGACAGGGAGTCTTCACTACAGCCTCTGATTCGTCTCGGGCCAAGTCTTCATTTGCATAGGGTGTAACTAATAGGAAACCCGTACAGGGTACTTTAATCCCAGAAGACTGTGCAGCTGGGGCTCTTGAACCACTTGCTCAATCCCACTCCTACTCTATGGAGTGTACTTTCATTTCAATAAATCTATGCTTTCGTCTTCTGTTGCTTTGCTTGTGTGTTTTGTCCAATTTTTTGTTCAACATGCTAAAAACCTTGACGACTTGTGGTCAAGACCGTCTACCAGTAACATTATTTCTTGGTAAAGTGTCCCGTATTAACTGAAGCTGAAAATACAAACATCAGCTAACAGTAGAAAAGAAGAAAATATATGAAGAAAATGAAAGTTAAGATGAAAGCTATGTTTTACCTTATCACCAAGCTGGCTAAAATCATCAACAAAAGGAAAGCCATTTCTACAAATGTTTTTCACCGGGAACCCCATTTTGTAAACTGACATGAACATCTAATGCCACCTTGTGGTATTTGGGAGGAAGTGAGAGGAAAGATTCCTGAAGGTATCAACTCCAGTGGACTTTGCTTGCTTAATGTCCCATTTTTTTTTTGGTCTTTTTTCTGTGAGATTTAATAAGGTATAATTCATTATAATAAAATTCACTAATTTTAAGGGTATAATGAGTTTTGACAAAGCAATGTAATCCTACCACAATTACAACAGAGTATTTCCATCCAAAAAGGTCTTTTGTGCCCTTGATGGCAAACATAAGTCCCCTTTTCCTACCCTTAGCAACTGATCAGCTATCATCACGAGTCTGCCTTTTACAGAATTCATATAAATGGCATCATACGGTACGTAGTCTCATGTCTAGCTTCTTTCACTCAACATAATGCTTCTGAGATTCATATGTTACTGCATATAACCATAGTTAAATGCTTTTTTAAAAAATTAAACTATTTATTTATTTATTTATCTTTGAGACTGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTTGGCTCACCACAACCTCCGCCTCCCCGGTTCAAGCAATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGATTACAGG
pathogenic
4,293