Split (2)

train · 35.2k rows

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
Regarding the variant found on chromosome 1 at position 152304831 in gene FLG: is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Ichthyosis_vulgaris']	CCTTATTAATATACGTTGCATAATACCTTGGATGATCTTTACCAAACGCACTTGCTTTACAGATATCAGATCTTTCCTTGAAAACAACAGGATTGGAATTGTAACTAACACTTCCGTGCTGAGAGTGTCTAAACCCGGATTCACCATAATCATAATCTGCACTACCATAGCTGCCATGTCTCCAAACTAAACCTGATTGACCTTTTTGCCTTTCAGTGCCCTCAGATTGATAATGATAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAAT	CCTTATTAATATACGTTGCATAATACCTTGGATGATCTTTACCAAACGCACTTGCTTTACAGATATCAGATCTTTCCTTGAAAACAACAGGATTGGAATTGTAACTAACACTTCCGTGCTGAGAGTGTCTAAACCCGGATTCACCATAATCATAATCTGCACTACCATAGCTGCCATGTCTCCAAACTAAACCTGATTGACCTTTTTGCCTTTCAGTGCCCTCAGATTGATAATGATAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATNNNN	pathogenic	14,747
Variant at chromosome position 152305067, chromosome 1, gene FLG: benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Ichthyosis_vulgaris']	TAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGAT	TAAGAACTAGAACTGTGAGGACTGCCACGTGACTGTATTCCTGAGTGATACGCAGAATCTTGTGAAAGACTACTAAAGTGACCATGTTCCTTAGCGGTACTAGAGTCTGACTGTACAGGTGAAGACTGTACATGACTGGCTGTATCGCGGTGAGAGGATCCGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACTCAGATCGCCTCTCAGAGTCCTCTGGGTATGCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCGCTGATTCACCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCAGCCTGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGACTGTTCCTCATTACGTGTTTCTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTAGGATCCCTGTCTTCCTCCTCTCCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCCTTGTCTTCCTCCAGTACTGGGCCCAGCCCGTCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACGTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCCGCTGATTGTCCCTGGCCGGACTGTGAGTGTCTAGAGCTGTCCGCCTGAGTGGAAGCTTCATGGTGATGCGACCATGAGTGCCTGGAGCCATCTCCTGATTGTTCGTCATTACGAGTTTGTCTGCTGGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTAGTGGGATCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCTTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATNNNN	pathogenic	14,752
Variant in gene FLG, located at chromosome 1 position 152306940: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	GTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTG	GTCTACTGTCTCTGACTGCAGATGAAGCTTGTCCACGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTCTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCGGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCGTGCCTTGACTGCTCCTGAACAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGTGACACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGN	pathogenic	14,787
Is chromosome 1, position 152307398, gene FLG variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Ichthyosis_vulgaris']	ACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCAC	ACTGAGTGCCTGGAGCTGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACN	pathogenic	14,798
Is the variant located on chromosome 1 at position 152307617, gene FLG, benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Ichthyosis_vulgaris']	CCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCC	CCGTATTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCNN	pathogenic	14,804
Evaluate this variant at chromosome 1, position 152307928, gene FLG: benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	TGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCT	TGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTNNNNNNNN	pathogenic	14,813
The chromosome 1, position 152308017 genetic variant in gene FLG: benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Ichthyosis_vulgaris']	TTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTC	TTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCNN	pathogenic	14,815
The mutation impacting FLG on chromosome 1 at position 152308047: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	CCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCT	CCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTCACACTGGATCCCTGGCGCCTGCTTCTCCTGGACCCCTCTGATTGTCCCTGGACTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGTGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGAGCTATCTACCGAATGCTCGTGGTGGTACCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCTAGTGCTGGGCCCCGTCCATCCATGGGAGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGATCCTGAATGTCCAGACGTTTCCCCTGACCGGCCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGACCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCATTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTNNNNN	pathogenic	14,816
Gene FLG variant at chromosome 1, position 152308939—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic	GGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGC	GGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTGTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCNN	pathogenic	14,848
Regarding the variant at chromosome 1 and position 152309086, affecting gene FLG: benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Ichthyosis_vulgaris']	ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACC	ATGACCAGCTCTGTCTTCTTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTAGCTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAAAACTGGATCCCCAGTTCCTGCTTGTCCTGGGCCCCTCTGATTGTCCCTGGCCCACCTGCGAGTGTCCAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCATCGTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGAGTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGATCTATCTACCAATTGCTCGTAGTGGGATCCCTGCCTTCCTCCACTGCTTGACCCCGGGTGTCCATGAATGGTGTCCTGACCCTCTTGGGACGTTGAGTGCCTGGAGCTGTCTCGTGCCTGCTTGTGGTGGGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTCCTGCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGTGGGATCCGTGTCTCTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGATGCAGCCTGTCCACCAGAGGAATTCTCTGCATGATGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCN	pathogenic	14,854
Considering the genetic mutation at chromosome 1, position 152310073, impacting FLG: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Ichthyosis_vulgaris']	TTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAG	TTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTC	pathogenic	14,871
Gene FLG variant at chromosome position 152310097 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Ichthyosis_vulgaris']	GGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCA	GGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGACGCAGACCCAGACCGCCTCTCAGAATCTTCTGAGTGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCCGGGGCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCAGTGAGTGTCTAGAGCTGTCGGCCCAAGAGGAAGCTTCATGATGATGCGACCCTGAGTGCCTAGAGCCATCTCCTGATTGTTCCTTGTCATATGTTTTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCTTGGTGGGACCCCTGTCTTCCTCCTCTGCTTGGCCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGATGCTGAGTGCCTGGAGCTGTCTTGTGCCTGATCATAATGGGATCCTTGTCTTCCTCCAGTGCTGGGCGCAGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCANNNN	pathogenic	14,872
A mutation at chromosome position 152310613 on chromosome 1 in gene FLG: benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Ichthyosis_vulgaris']	AGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTG	AGACTGTCCATGGGTGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTTTCCCTGTGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCACTGTACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCATGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGTGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACGAGAGGAAGACTCTGTGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCAAGCAGATCCAAGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGNN	pathogenic	14,883
Benign or pathogenic: chromosome 1, position 152311183, gene FLG variant? Disease(s) if pathogenic?	pathogenic; ['Ichthyosis_vulgaris']	ACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCC	ACTGGATCCCTGGTTCCTGCTTGTCCTGGGCCCTGATGATTGTCCCTGGCCCACCTGCGAGTGTCTAGAGCTGTCGGCCCGAGAGGAAGCTTCATGGTGACGCGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTCTCATTACGTGTTTGTCTGCTGACACTTCTGGATCCTGACTGCCCACGGGAGACATCAGACCTTTCCTGGGACGTGGTGTGGCTGTGATGAGACCCTGAGTGTCCAGAACTATCTACCGATTGCTCATAGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCN	pathogenic	14,891
Evaluate this variant at chromosome 1, position 152311461, gene FLG: benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Ichthyosis_vulgaris']	GCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTC	GCCTTCCTCCTCTGCTTGACCCTGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGCGGGATCTTTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCN	pathogenic	14,897
Does the variant impacting FLG on chromosome 1, position 152311564, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Dermatitis,_atopic,_2', 'Dermatitis,_atopic,_2,_susceptibility_to', 'Ichthyosis_vulgaris']	TTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCA	TTGTCTTCCTCCAGTGCTGGGCCCTGTGCGTCCATGGGCGGACTCAGACTGTTCATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCCAGACCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCAN	pathogenic	14,900
Mutation at chromosome 1, position 152311660, within FLG: benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	CCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTG	CCTTTCCCCTGACTGGCCACGTGTGGACTCTTGGTGGCTCTGCTGATGGGGCCCAGCCTGTCCGTGGGCTGACACTGACTGTGTGTCTGACTCTTCTGAGTGTCCCTCGCTGTCACTGGCCTGGCTACCACTGGACCCTCGGTTTCCACTGTCTCCGACTACAGATGAATCTTGTCTGCGCCCAGTGCCTGAGTCTGTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGNNNN	pathogenic	14,901
A genetic variant at chromosome 1, position 152311908, affecting gene FLG—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Ichthyosis_vulgaris']	TTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTC	TTGACCTTGCCTGTTCCTGGGATGATGCAGCCTGTCCACCAGAGGAAGTCTCTGCATGACGAGTGCCTGATTGTCTGGAGCTCTCTGCAGAGTGCCCATGACTGGCTCTATCTTCTTGATGGGACCTGGGGTTCCTGGAGCCATGTCTTGACTGCTCCCGAGCAGATCCATAATGGTTTCTGGAAGCCGACTCAGACCGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGACTAACACTGGATCCCTGGCGCCTGCTTGTCTTGGACCCCGCTGATTCTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGCCGGCCCGAGTGGAAGGTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTCCTCATTTCTTGTTTGCCTGCTTGCACTTCTGGGTCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGGTGTGGTGTGGCTGTGATGGTACCCTGAGTGTCCAGACCTATCTACTGATTGCTCGTGGTAGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCGTCTTGGGATGCTGAGTGCCTAGAGCTGTTTCGTGCCTGCTCATGGCGGGATCCTTGTCTTCCTCCAGTGCTGGGTGCAGTCTGTCCGTGTGTGGACTCAGACTGTTCATGAGAGCTCACCTGGTAGAGGAAAGACCTTGAACGTCCAGAGCTTTCCCCTGACTGGCCACGTGCGGACTCTTTGTGGCTCTGCTGATGGGGCCCAGCTTGTCCGTGGGCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTTAGTGACCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGTGCCCAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACACAGCCTGTCCATGAGAGGAAGACTCTGTGTGATGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACTGGCTCTGTCTTCTTGATGGAACCCAGGGTGTCTGGAGCCATCTCTTGACTGCTCCCGAGAAGATCCATGATGGTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCNN	pathogenic	14,904
Classify the chromosome 1 variant at position 152313055 affecting gene FLG as benign or pathogenic. If pathogenic, which disease(s) is associated?	pathogenic; ['Ichthyosis_vulgaris', 'Inborn_genetic_diseases']	GTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATT	GTTTCTGGAAGCAGACCCAGACAACCTCTCGGAGTCGTCTGAGTGTCTCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTGCCTGCTTGTCCTGGACCCCGATGATTGTTCCTGTCCCACCTGTGAGTGTCTAGAGCTGTCAGCCCAAGAGGCAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCCTGATTGTTTGTCCTTACGAGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGATCTATCTACCGATTGCTCATGGTGGGATCCCTGCCTTCCTCCTCTCCTTGACCCCGGGTGTGCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAGTGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGGGATCCTTGTCTTCGTCCAGTGCTGGTCCTGGTCCGCCCATGGGCAGACTCAGACTGTTCATGAGTGCTCACCTGGTAGATGAAAGACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTN	pathogenic	14,925
Clinical classification of chromosome 1, position 152313587, gene FLG: benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['FLG-related_disorder']	GACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACA	GACCCTGAACGTCCAGACCTTCCCCCTGACCAGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACANN	pathogenic	14,940
The mutation in gene FLG at chromosome 1, position 152313637—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	GTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTT	GTGGCTCTGCTGATGGGGCCCATCCTGTCCATGGCCTGACACTGACTGTGTGTCTGACTCCTCTGAATGTCCCTCACTATCACTGGCCTGACTACCACTGGACCCCCAGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCTGCGCGGAATGCCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCGGGATCCGTGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACCAGAGGAAGTCTCTGCGTGAGGAGTTCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGACCGGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATGTCTTGACTGCTCCTGAGCAGATCCACGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAATGTCCCTCACTGTCACTGTCCTGGCTAACACTGGATCCCTGGCGCCTGCTTGTCCTGGACCCCTCTGATTGTCCCTGGCCTGCCTGTGAGTGTCTAGAGATGTCGGCATGAGAGGAAGCTTCATGGTGACGTGACCCTGAGTGCCTGGAGCCGTCTCTTGATTGTTCCTCATTACGTGTTGTTCTGCTTGCACTTCTGGATCCTGACTGCCCACGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTT	pathogenic	14,942
Benign or pathogenic: chromosome 1, position 152314328, gene FLG variant? Disease(s) if pathogenic?	pathogenic; ['Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	GACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACCA	GACCCTGAGTGTCCAGACCTATCTACCGATTGCTCGTGGTGGGACCCCTGCCTTCCTCTTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACC	pathogenic	14,947
Does the variant impacting FLG on chromosome 1, position 152314408, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Autosomal_dominant_ichthyosis_vulgaris', 'Dermatitis,_atopic,_2', 'Ichthyosis_vulgaris']	ACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACCATTAGAGATGAAAAAGGGGAATTAAGAAACTTTAATAATTCAACAGAAGCCAGGAAAGAAGAAAATAAGAAGCATAGAAAA	ACGAATGGTGTCCTGACCATCTTGGGATGCTGAGTGCCTGGAGTTGTCTCGTGCCTGCTCATGGTGGGATCCTTGTCTTACTCCAGTGCTGGGCCCTGTCCATCCATGGGAGGACTCAGACTGTTTATGAGTGCTCACCTGGTAGAGGAAAGACCCTGAACGTCGAGACCTTTCCCCTGACCGGTCACGTGCGGACTCTTGGTGGCTCTGCTGATGGTGACCAGCCTGTCCATGGCCTGACACTGACTGTGTGTCTGAGTCTTCTGAATGTCCCTCACTGTCAGTGGCCTGACTACCACTGGACCCTCGGTGTCCACTGTCTCTGACTGCAGATGAAGCTTGTCCGTGCCCAGTGCCTGAGTGTCTGGAGCTGTCTGCTGACTGGAGCTGGTGGCGGGATCCATGTCTTTCTCCTGCACTTGATCTTGCCTGTTCATGGGATGACGCAGCCTGTCCACTAGAGGAATTCTGTGTGTGACGAGTGCCTGATTTTCTGGAGCTGTCTGCAGAGTGCCCATGACCAGCTCTGTCTTCGTGATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCTGAGCAGATCCATGATGGTTTCTGGAAGCAGACCCAGACCACCTCTCAGAGTCTTCTGAGTGTCCCTGACTGTCACTGTCCTGGCTAACACTGGATCCCTGGTTCCTACTTGTCCTGGGCCCCGATGATTGTCCCTGGCCCACCTGTGAGTGTCTAGAGCTGTCAGCCTGAGAGGAAGCTTCATGATGACGTGACCCTGAGTGCCTGGTGCCGTCTCCTGATTGTTCCTCATTTCGTGTTTGTCTGCTTGCACTTCTGGATCCTGACTGCCCATGGGAGGCATCAGACCTTCCCTGGGATGTGGTGTGGCTGTGATGGGAACCTGAGTGTCCAGACCTATTTACCGATTGCTCGTGGTGGGATCCCTGCCTTCCTCCTCTGCTTGACCCCGGGTGTCCACGAATGGTGTCCTGACCCTCTTGGGACGCTGAATGCCTGGAGCTGTCTCGTGCCTGCTCGTGGTGCGATCCTTGTCTTCCTCCAGTGCTGGTCCCGGTCCGTCCATGGGCAGAGTCAGGCTGTTCATGAGTGCTCACCTGGTAGAGGGAAGACCCTGAACGTCCAGACCGTTCCCCTGACCGGCCACGTGTGGACTCTTGGTGGCTCTGCTGTCTCAGCCCAGCCTTTCCGTGGCCTGACACTGATTGTGTGTCTGAGTTTTCTGAATGTCCCTCACTGTCACTGGCCTGACTACCGCTAGACCCCCGGTGTCCACGATCGCTGACTGCAGATGAAGCTTGCCCGCGCCCAGTGGCTGAGTGTCTGGAGCTGTCTGCTGACTGCTGGTGGCCGGATCCATGTCTTTCTCCTGGACTTGATCTTGCCTGTTCATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTCTGCAGAGTGCCCATGACTGGCTCTGTCTTCATCATGGGACCTGGGGTGTCTGGAGCCATCTCTTGACTGCTCCCACGCAGATCCATGATGGTTTCTGGAAGCCGACCCAGAGTGCCTCTCAGAGTCTTCTGAGTGTCCCTCACTGTCCCTGTCCTGGCTAACTCTGGATCCCCTACGCTTTCTTGTCCTGGACTCCTGCAATGGTACCTGGCTTGTATTTTCATGTCTTGACCTGTTCACTTGAGATGATGATTTGCCATCAGATGACCTTGATCTTTCATATATTTTGTTTTCTTCTAATAGACTATCAGTGGTGTCATAGGCTTCATCCTGGATTGTGTAATATGTGGCAATATGGCCTGATTGTATCCATTTTTGAGTCATTCTTCCTGTATTTTCATAATCATATACTCCTTCTTCATTGTCTTCTTTCTCTTCAAGTCTTTCACTTAGCCTCTTCCTATTGTCTCCTAATCTAGTATTTTCAGTCTTGTTTTTCTCTTTTTTACTTGAGTTATGATGGTTTTTTCCATATTCTTCTTCTCTATGAGTAGGTGAATATCCTTTTCTTTCTTTTTTTTTCAGAACTAGATTCATGCCTTTTCCCCCCTGTTTCTCTTGGGCTCTTGGATCTTCCCTTATTCCCTTTTCTATTGTTTCTTCTTTCCAGACTTGAGGGTCTTTTTCTGTTTTCTTTGTTTTCTTCCTGTTTATTATCTTCATGTTTATCATGATGACTGTGCTTTCTGTGCTTGTGTCCTGATATCGGTAAATTCTCTTTTCTGGTAGACTCATAATATGCTTGAGCCAACTTGAATACCATCAGAAGAAACTCAGTGAAGTCAATTTTCTTGTTGTGGTCTATATCCAAGTGATCCATGAAGACATCAACCATATCTGGGTCATCTGGATTCTGTACAGAGGGAAGTCACAGAGGGAGACTGCATCAGACAGAATCACATTATCAGCCAATTAATTCAAAGTTAATTTAAGGAACCTGATCTTTGAGTATTAAAAAGTGGGACAAAATCTTTTTTTTTTTTAAGACTTTTTTGTCTCATCCTCATTCAGGTGTTATATGTGAACAAAGATGTAGACTAGTAAGGTATCAAGATTTGATGGGGTAAGTGACTCTTTTTCTTATTTTAAAAGTCAGAAGTGTATATAATTCATTACTTAGTTGTCTTTAACAAAAATCCCCTTAGTAATGTTGATGTTTGGGAGAATATTATAAATACCAAAATACTAAGAACTAATTTACATTAATTTTTAAATATTTATATTTTTTTCTCTGAGGGTGTCTTTATGTTTATAATATACATCCAGGTATAGGGGAAGAAAATAAAATCTATCTCTTTTGAGACAAGATTAACTCTTTTCCTATTTTAAGAGAAATAGTTCACAAAGAGCTCAAAATAACCCTTGCTTAGATTATTGATGAGAAAAACAAATGCTCTATCTTTGGTCTTGTCAGAGACTCTTACCTTCAGGATTTGCCGAAATTCCTTTTCCAGAAGTTCCTTCAGCTCTTTTTTACTCAATGTGTCAGTGTTTTTATCTTTTTTTGAATATTGCTTGAAAAGATTAATTATGGCAAAGATGTTTTCCAGGAGAGTAGACATCTTTTGGCAATAAATGTGAACCTAGAAAGAAGAAATGAAAATGCACTTTTTTATACATCTTTTTTTCTAGGTTATATTATTACAATCATTTTCCACATTTTAAACCTACATTTTCCTCTAAGTAATCCATCTTTAAGAATGGAAGATGGACATGAGAAACTTTTCTCTACCATCTACATAAAACAAATGAATAGAGTTTTCCTGACTTAAATAAAATTGCCCATTTTTTGGCCTTGTGCCCACTTACAGCTGGACTTAGTAGTCTCACAGACCTCAGTGTGCTCTAGGTAAGATCATCCCTCTTGCTGATCTTGCCATTGCTAGCAACAAGAATTTAGAAAGGCTGACTGGTTTTAAGCAGTAAAATTTACTTATACAAATTTACTGAAAATTACTTCCCCAAAAGCTAACTTAATAAATGATTAATTTGCTAAGACACAATTCTCTGAAAGCCAGTTAGCCATATGACAAGATACTCAATGAAAGTTCATTCAATTTTTTATTTGTTTTTTAAACATTTCATGAAGTTTATAATATTTCATTGTATAGGATGGATTTAATAGCTCTTCAATATTTAAAGAGAAAGGTTTTTCTGACTGGGTTTCATTTTGCCATTTAAGGAATGTTCAGTTTATCTCATTGGTGAAGAAATTAGTAAGCATGTCAATAAATCTAAGTGTGTATTATATAAAGAATTATAACTTTATTAGGACTTACAAAACCAGGTGAAACTAAAATACTGTAGAAAACAATGTGAAGGAGATTACTGTAGCAGTCACAACTAAAACATTTTTGGACCTTGGTTTGTTTGGTAAGAGGAATTAGATATTAATGAATTTTGCTGTGGTTAAGTGATATATGTATTTGGGTAAGTTTATGGGTATTTACTAAAATAATAGAATTTATAATTTCTAAACCATTAGAGATGAAAAAGGGGAATTAAGAAACTTTAATAATTCAACAGAAGCCAGGAAAGAAGAAAATAAGAAGCATAGAAA	pathogenic	14,949
Is the genetic variant on chromosome 1, position 153261515, gene LORICRIN (loricrin cornified envelope precursor protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?	benign	CCTGCCACACTGTTGCATCAGAGAAGGGGCCAGTCACACACCAGGCTGCCCATCTCAAGAATGCCAAAACCTTCATGAATGGGCCATCCTGTGCCTGCAATCACAGGGAGGTGGGGCCGACAGCCACGGGTCACGTAACTGAGGCCAAACACAAGAAGCTGGCCTGGATCAATGAGTCAGGGAGAGCTCTATATATAACCTCAGGAGATCAGTGCTCCTCACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGTAAGTGTGGTTCTACTGACTCTCTCATTTTCCCAGCTGGTCTTGCCCAGGCCTGACTAGATTAGATGGACCAGGGCCTCTTTCCCCTTTGGGAGCTATAGGACCTCTGCCTTCCCAAAAGCACTCACATTTAGAGGGCGGTCAGGAAAGGAGCAGGGGATGAGCTGCTGCCATGCAGATGGTGTTTCTGGTCTTCTGGCCAGAATGTAAACTCCACAAAGACAAGACTATCTCCTGCCTCTCTGGCACCCGCATAGGGGCAGGCATGGTGCCGGGCACAGAAGGACTCTGCAGAGGCTGTCCAAGGCAGCCTGTGCACAGGCTGAGCAGACCTTGTGAACCTGTCAGGAGGAGAGGCTGAGCCACTCTCAAGAGAGTAGGGAGAATGATCCAAAAAAGTTGCAGATGGGAGGGATTTCAGGTGCCACAGAAATCCAATTGCTGTTTTACAGAGTTAGAAGTTCTGAGAGGGAAATACAACTTCCTACTAGTCAAAGTCCCTTCTACCAAACTTGGACTTGAGAAAATCATGGAAGAGATGGCTAATAGCTTCTGGTCGGGGATGTTGGTCCAAAGGACCACCAGGGTCCTTCCCCTGTTTCCAGGCAGGGCCACAGCAGAGCCTGTCTTTTCTAGTGACTAGCCCTTGGTTCATGGCCTAGCTCAGTGGGACAGACCAAGAGTTTGAACTAAGAGCTTCTGCAGAGGATGGAGTGCAACAGCCCTCAATAGAATGAAGTCCGACAAACCTCTCTCTGTTGTGCTGGGAATGGGTAAAATCTCCTATCCTAGGTAGAGGTTTGTGGTAGTTTTCTATTTGCACTCAGAGAATCAGTGTTGAGATTGGAAGAGGCCTGAAAGATGAAGTGTTCAAACCCTTTCATTTAACAGGAAATGAGAAAGAGGCGGGCGTGTGGGTGATCTGCCCTCAAATCACACAACAGTGGTCAGAGGCAGAGCTGGGAGAAAGAATGGGCACTGCTAACTGGGCTGTTTAAAGCATAATGAAGGCTTTCTGCAGGGGAATGAGGAACTCAACTTTTCCAAAAGCAGCAATCATAAGAAACCCCGCTGAGGGCTCTCCGGGCACCTGAAGGAGCCCTGGGAGGATGGCGATGTTGCCTATGGATGCAGCTGCCTCCGTAAGTATCCTCTTGCAGCTGGTCCAGCGATGCTCTCTTCTCCCCTTCCAGGCTCTCCTTCCTTCTCAGACAAGATGTCTTATCAGAAAAAGCAGCCCACCCCTCAGCCCCCAGTGGACTGCGTGAAGACCTCTGGCGGCGGTGGCGGTGGCGGCGGCAGCGGCGGTGGTGGCTGCGGCTTCTTCGGCGGCGGCGGCTCAGGGGGCGGTAGCAGCGGTTCTGGCTGCGGCTACTCCGGCGGCGGTGGCTACTCTGGCGGCGGCTGCGGCGGGGGCTCCTCCGGCGGCGGGGGCGGGGGCGGCATTGGAGGCTGCGGAGGGGGCTCCGGTGGGAGCGTCAAGTACTCCGGAGGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTCCAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCGGCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGCTCTGTCTGCGGCTACTCTGGCGGCGGCTCTGGCTGCGGCGGAGGCTCCTCTGGCGGCAGCGGCTCCGGCTACGTCTCCTCGCAGCAGGTCACTCAGACCTCGTGCGCGCCCCAGCCGAGTTACGGAGGGGGGTCGTCCGGCGGCGGCGGCAGCGGCGGAAGCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGGAGCTCCGGCTGCGGCGGCGGCTCCTCCGGGATTGGCAGCGGCTGCATCATCAGTGGCGGGGGCTCCGTCTGCGGAGGTGGTTCCTCTGGAGGCGGCGGCGGCGGCTCCTCCGTGGGTGGCTCCGGGAGTGGCAAGGGCGTCCCGATCTGCCACCAGACCCAGCAGAAGCAGGCGCCTACCTGGCCGTCCAAATAGATCCCCCAGGGTACCACGGAGGCGAAGGAGTTGGAGGTGTTTTCCAGGGGCACCGATGGGCTTAGAGCTCTCATGATGCTACCCGAGGTTTGCAAATCCTTCATGTCTTAACCTACCTGGAAGAAGCCATTGAGCTCTCCGGCTGCATCTAGTTCTGCTGTTTAGCCTCTTTGGTTTCTGTACAACTACCTCCCAACCCCAGTGCCTCAGTCAATAAATTTGCAAATTCATGAGAATTTTTAGGTCTCCAAGAGTATTTGTAGTGTTCAAGTTCATCCATTCCATTCCATTCTTCTCCTTTCCTGCATTCGCTCATTCACACTTACATTCATTTTACAAATGCACGGACTCTATTGGCGGAAAGGTGAGTGGATAGATGGGAGTCACCAGGAGAGGGAGGAATGGCTGGCAAACGAAGGTCAAACATATGAACATTCTAGTGTACGGCTTAAAATCATGACGTGATCCCAAAACACAAAGATCCTGAGGAGAGACTTCAGTAAACACCTCCCTGTGGATTGAGTAGCTACTGTGGGTCTCCTTACTGAACTCTGTTTTTTAAAGACAGGCTGCCCTGGAAAGACGCTGTCTCTCACAGTCCAAAGCCAATTCTGCAAGGTCTGAAAGCTGGGTGGCTGCACATTAGGAGCACCAGCTCATGCTACTCAGACTCACGGAGAAATAAAAAGCATATCAGATGTTTACGGGCCCCTAGGGTGAGCAAGACCACTTTAGTAGGTACCCGTAGGGAGAGGAGGTAGTAGGGGAGCTGTTTCCTGCTCTCTCACTCTCTCTCTCGTTTTTTTTTTTTTAATTTCAATCAGCTTTCTCGGGTTGAATGTTTCCTGCTCTCTTGAAGGAACTTTACCTAACTTAGGAAGATGCAGCATACATATACGAGATGTAAAAGCTTGGCACCAGAAAGAGGTCATGGAAAACACAAGAGCTTCCAATTAACAAGGAAGAAGCGACAGTTGCTCCAAGGGATGTATTAATTGCAGAGCCCTCAAAAGAGATGTAGAACATCAGCCTGGCCAGGGACTTTCCAGGTTCTGTTTCATATCCTGATTTTACCAGCTCTAGTTAAATGCCAATTTACTGATTTACTCAAGAAAAACTCCTGCTACGTCAAAAAGCCAAAGTACCCTTCCTACTCAATCACTGCTGGGGGGAAAAAAAGTCTTCCTCCTCAACTCTTCCATTTAGGATCACTACCATGCATCATTTTACATCGGTAATTCATGGAGATCAGAATAAATAGCAGTCTTAAAGATCCAGGAGCCCAACCACTGCATTACTTTCATGTTTTTTAACAAATGAAAGTCAGACTTTCAGTTCTGGACAAAATGAAGTAGATGTATTTCTTACTATCGCTCTTATGAAGTAGAACTAAAATCTCTGGGCATAATATATAAAACAAACATAAGAAGACTTTGTAAGCTGGGTGGCTGCACGTTAACAGCACCAGCTTATGCCGTAAACATCTGATATGCTTATTATTTCTCCGGTGAGTCTGGAGAGGACAAGGCAGAGTAGCTAGAGTCCTCAGAACTAAAGGACTGACAGTGGTAAGTTTCCTGGGTTTTCTTTTTGCCTCCTGTGTTTCCCACATTGGGCACTAGAAAATCTGCAACCAAGATTCTGGCAGGTGCAGACAAAAAAATTGCACCAAGA	CCTGCCACACTGTTGCATCAGAGAAGGGGCCAGTCACACACCAGGCTGCCCATCTCAAGAATGCCAAAACCTTCATGAATGGGCCATCCTGTGCCTGCAATCACAGGGAGGTGGGGCCGACAGCCACGGGTCACGTAACTGAGGCCAAACACAAGAAGCTGGCCTGGATCAATGAGTCAGGGAGAGCTCTATATATAACCTCAGGAGATCAGTGCTCCTCACATTGCCAGCATCTTCTCTCCTCACTCACCCTTCCTGGTGCTTTGGGTAAGTGTGGTTCTACTGACTCTCTCATTTTCCCAGCTGGTCTTGCCCAGGCCTGACTAGATTAGATGGACCAGGGCCTCTTTCCCCTTTGGGAGCTATAGGACCTCTGCCTTCCCAAAAGCACTCACATTTAGAGGGCGGTCAGGAAAGGAGCAGGGGATGAGCTGCTGCCATGCAGATGGTGTTTCTGGTCTTCTGGCCAGAATGTAAACTCCACAAAGACAAGACTATCTCCTGCCTCTCTGGCACCCGCATAGGGGCAGGCATGGTGCCGGGCACAGAAGGACTCTGCAGAGGCTGTCCAAGGCAGCCTGTGCACAGGCTGAGCAGACCTTGTGAACCTGTCAGGAGGAGAGGCTGAGCCACTCTCAAGAGAGTAGGGAGAATGATCCAAAAAAGTTGCAGATGGGAGGGATTTCAGGTGCCACAGAAATCCAATTGCTGTTTTACAGAGTTAGAAGTTCTGAGAGGGAAATACAACTTCCTACTAGTCAAAGTCCCTTCTACCAAACTTGGACTTGAGAAAATCATGGAAGAGATGGCTAATAGCTTCTGGTCGGGGATGTTGGTCCAAAGGACCACCAGGGTCCTTCCCCTGTTTCCAGGCAGGGCCACAGCAGAGCCTGTCTTTTCTAGTGACTAGCCCTTGGTTCATGGCCTAGCTCAGTGGGACAGACCAAGAGTTTGAACTAAGAGCTTCTGCAGAGGATGGAGTGCAACAGCCCTCAATAGAATGAAGTCCGACAAACCTCTCTCTGTTGTGCTGGGAATGGGTAAAATCTCCTATCCTAGGTAGAGGTTTGTGGTAGTTTTCTATTTGCACTCAGAGAATCAGTGTTGAGATTGGAAGAGGCCTGAAAGATGAAGTGTTCAAACCCTTTCATTTAACAGGAAATGAGAAAGAGGCGGGCGTGTGGGTGATCTGCCCTCAAATCACACAACAGTGGTCAGAGGCAGAGCTGGGAGAAAGAATGGGCACTGCTAACTGGGCTGTTTAAAGCATAATGAAGGCTTTCTGCAGGGGAATGAGGAACTCAACTTTTCCAAAAGCAGCAATCATAAGAAACCCCGCTGAGGGCTCTCCGGGCACCTGAAGGAGCCCTGGGAGGATGGCGATGTTGCCTATGGATGCAGCTGCCTCCGTAAGTATCCTCTTGCAGCTGGTCCAGCGATGCTCTCTTCTCCCCTTCCAGGCTCTCCTTCCTTCTCAGACAAGATGTCTTATCAGAAAAAGCAGCCCACCCCTCAGCCCCCAGTGGACTGCGTGAAGACCTCTGGCGGCGGTGGCGGTGGCGGCGGCAGCGGCGGTGGTGGCTGCGGCTTCTTCGGCGGCGGCGGCTCAGGGGGCGGTAGCAGCGGTTCTGGCTGCGGCTACTCCGGCGGCGGTGGCTACTCTGGCGGCGGCTGCGGCGGGGGCTCCTCCGGCGGCGGGGGCGGGGGCGGCATTGGAGGCTGCGGAGGGGGCTCCGGTGGGAGCGTCAAGTACTCCGGAGGCGGCGGCTCCTCCGGCGGGGGCTCTGGCTGTTTCTCCAGCGGTGGGGGCGGCTCCGGCTGCTTCTCCTCCGGTGGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGTGGGGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCTCCGGCGGCGGCGGCTTCTCGGGCCAGGCGGTCCAGTGCCAGAGCTACGGAGGCGTCTCTAGCGGCGGCTCCTCCGGGGGCGGCTCCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGCTCTGTCTGCGGCTACTCTGGCGGCGGCTCTGGCGGCGGCTCTGGCTGCGGCGGAGGCTCCTCTGGCGGCAGCGGCTCCGGCTACGTCTCCTCGCAGCAGGTCACTCAGACCTCGTGCGCGCCCCAGCCGAGTTACGGAGGGGGGTCGTCCGGCGGCGGCGGCAGCGGCGGAAGCGGCTGCTTCTCCAGCGGCGGGGGCGGCGGGAGCTCCGGCTGCGGCGGCGGCTCCTCCGGGATTGGCAGCGGCTGCATCATCAGTGGCGGGGGCTCCGTCTGCGGAGGTGGTTCCTCTGGAGGCGGCGGCGGCGGCTCCTCCGTGGGTGGCTCCGGGAGTGGCAAGGGCGTCCCGATCTGCCACCAGACCCAGCAGAAGCAGGCGCCTACCTGGCCGTCCAAATAGATCCCCCAGGGTACCACGGAGGCGAAGGAGTTGGAGGTGTTTTCCAGGGGCACCGATGGGCTTAGAGCTCTCATGATGCTACCCGAGGTTTGCAAATCCTTCATGTCTTAACCTACCTGGAAGAAGCCATTGAGCTCTCCGGCTGCATCTAGTTCTGCTGTTTAGCCTCTTTGGTTTCTGTACAACTACCTCCCAACCCCAGTGCCTCAGTCAATAAATTTGCAAATTCATGAGAATTTTTAGGTCTCCAAGAGTATTTGTAGTGTTCAAGTTCATCCATTCCATTCCATTCTTCTCCTTTCCTGCATTCGCTCATTCACACTTACATTCATTTTACAAATGCACGGACTCTATTGGCGGAAAGGTGAGTGGATAGATGGGAGTCACCAGGAGAGGGAGGAATGGCTGGCAAACGAAGGTCAAACATATGAACATTCTAGTGTACGGCTTAAAATCATGACGTGATCCCAAAACACAAAGATCCTGAGGAGAGACTTCAGTAAACACCTCCCTGTGGATTGAGTAGCTACTGTGGGTCTCCTTACTGAACTCTGTTTTTTAAAGACAGGCTGCCCTGGAAAGACGCTGTCTCTCACAGTCCAAAGCCAATTCTGCAAGGTCTGAAAGCTGGGTGGCTGCACATTAGGAGCACCAGCTCATGCTACTCAGACTCACGGAGAAATAAAAAGCATATCAGATGTTTACGGGCCCCTAGGGTGAGCAAGACCACTTTAGTAGGTACCCGTAGGGAGAGGAGGTAGTAGGGGAGCTGTTTCCTGCTCTCTCACTCTCTCTCTCGTTTTTTTTTTTTTAATTTCAATCAGCTTTCTCGGGTTGAATGTTTCCTGCTCTCTTGAAGGAACTTTACCTAACTTAGGAAGATGCAGCATACATATACGAGATGTAAAAGCTTGGCACCAGAAAGAGGTCATGGAAAACACAAGAGCTTCCAATTAACAAGGAAGAAGCGACAGTTGCTCCAAGGGATGTATTAATTGCAGAGCCCTCAAAAGAGATGTAGAACATCAGCCTGGCCAGGGACTTTCCAGGTTCTGTTTCATATCCTGATTTTACCAGCTCTAGTTAAATGCCAATTTACTGATTTACTCAAGAAAAACTCCTGCTACGTCAAAAAGCCAAAGTACCCTTCCTACTCAATCACTGCTGGGGGGAAAAAAAGTCTTCCTCCTCAACTCTTCCATTTAGGATCACTACCATGCATCATTTTACATCGGTAATTCATGGAGATCAGAATAAATAGCAGTCTTAAAGATCCAGGAGCCCAACCACTGCATTACTTTCATGTTTTTTAACAAATGAAAGTCAGACTTTCAGTTCTGGACAAAATGAAGTAGATGTATTTCTTACTATCGCTCTTATGAAGTAGAACTAAAATCTCTGGGCATAATATATAAAACAAACATAAGAAGACTTTGTAAGCTGGGTGGCTGCACGTTAACAGCACCAGCTTATGCCGTAAACATCTGATATGCTTATTATTTCTCCGGTGAGTCTGGAGAGGACAAGGCAGAGTAGCTAGAGTCCTCAGAACTAAAGGACTGACAGTGGTAAGTTTCCTGGGTTTTCTTTTTGCCTCCTGTGTTTCCCACATTGGGCACTAGAAAATCTGCAACCAAGATTCTGGCAGGTGCAGACAAAAAA	benign	14,996
Does the genetic variant at chromosome 1, position 153816289, impacting gene GATAD2B (GATA zinc finger domain containing 2B), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; [, 'Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']	GCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGA	GCACTTTACTGGCAGGCTTTCCCAGAAGTCTACCTGTTTAGAAATTCAAGTTTAATAACTTCAGTTAGTCTAGACTGTATGTTGTTAATACTCTATAGTATGGTTTAGTATTGGTTTACAGCTTTTTATAAGGTCTTTCTTAGTTATCTATGTAAGTGTGTGTTTCTCAACTGTAAGCATTCACAGAAGACTAAACACAGTAATTCAGTACAATGTTGCAAAAACACTCACATTAAAAACAGAAGTTCCAGGCCAGGCATGGTGGCTCACACCTGTGATCCCAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGANN	pathogenic	15,028
Variant at chromosome position 153816570, chromosome 1, gene GATAD2B (GATA zinc finger domain containing 2B): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']	CAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGA	CAACACTTTGGGAGGCTGAGGCAGGCAGATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCCACATAGCAAAACCCTATCTCTACTAAAAACAGAAATAATTAGCTAGGTGTGATGGCACACATCTGTAATTCCAGCTACTTTGGAAGCTGAGACAAAAGAATTGCTTGCGCCGGGCACAGTGGCTCATGCCTGTAACCACAGCACTTTGGGAAGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATTGTGAAACCCCGTCTCTAAGAAAAACACAAAAATTGGCCAGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAATATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCTCTAGCCTGGGCAACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAGAATTGCTTGAAACCAAGAGGCAGAGGTAGTCAGCCAGCTAAGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCAACAAAGAAAAAAACTGGCATGGTGGTGCATACCAGTGGTCCCAGTTACTCAGGAGGCTGAAATGGGAGGATGGCTTGAGCCTGGGAGGTCAAGGCTGCAGAGAGCTGAGATCACACCACTGCACTCAAGCCTGGACAACAGGGTCAGACCCTGTCTCAAAAAAACAAAAAAAAAAAACAAAAAAAAAAAAAAGAAAAGAGAAGTTCTATTTATCAAATTATGCAAGCATCATGCTAGCCACCATTTAAAAGAACTAAACAAAATACAGTCAGTCCTCAATGTTGTTGACAGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAN	pathogenic	15,033
Is chromosome 1, position 153817453, gene GATAD2B (GATA zinc finger domain containing 2B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Inborn_genetic_diseases', 'Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']	AGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATT	AGGTTCTCAGAGACTATGATTTAAGTGAAACAACATACAACAAAAACAATCTTTTTTTTTTTACTAATGTTATAATAAAATGATGTTATTTGAGGACCCCCTTCACCGTAGTTGTTTCACTTAAAGTCACAGTTTCTAAGAAACTATTGATGATGTTAAGTGAGAACTTACTGTCCTACAAAAAACACACAAGATAGATAAAATCCAAATAAAAATATCAAGCCTCAATGATAGCTGACCTGCTGAAGGGAAAAAAAAACAAGCCGAAAGATAGATGATAGATTAGATAGAATAGAATAGATAGATTAGATAGATGATAGATTAGATAGATAGATAGATACATAGGCAGGCTGGCCCCGGCCGGCTGACGGGGTACAGTGGCTCATGCCTGTAATCCTAGCACTTTAGGAAGCCGAGGTGGGCAGATCACCTGATGTCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAACCGGGTGTGGTGCCACGTGCCTGTAGTCCCAGCTACGTGGGAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTGCAGTGAACTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAACAAAACACACACACACACACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTAT	pathogenic	15,036
Variant in GATAD2B (GATA zinc finger domain containing 2B), chromosome 1, position 153818122—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']	ACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAG	ACACACACACACACACACACACACACACTCCGCTTCTAACATGTTGCTCCCAAACAGCTGTAAAGAAGGGAGGGAGGTGGTTTGGTAACAGGAAGGAGAAGTTATTTAATATTGTACAGTACCCTCTGATACTCTGCCTATGTCAATCAGGCTTGGCAACCACTTGCTTAAATAGATTGATTAGAAGAAACAGCCTTACCTTGGCTGTCAATGACACTCTGTACGACTTCTTCCAAGCCTACCATGTAGATGAACTCGCTATTGGCTGCACTAGGCAAGAAATGAAGTAAGGGAGCAGGAGGTTTAGGGGGTGGGATCTCCAGGAGTGTCTTTTCCAGCTGTTTGCGAAGAGCCAATTTGGCTGCAGCCTGTGAGTTGGCAGCATCAGTCATGGCGCTGGGGCTAGGAAGTGGCGAGGACACTCTGTTCACCGTCCCTGGCTGGATATGAGAAGCAAGGTTCATATAGATGGCAGAGGATGTTGTACGCTGACATGGAACAGAAGAACTTGACTGCTGAAATAGATTGAGAATGCGGTCAATCATGGTATGCAGGAGAAAGGGCCAATTCTTACGTTCTTGGCAGAGGACACTGTCTGATCCTGGTTTGGACTACTTAGCTTCTCCAAAAATAGGAGGTGGTCAACTTATTTATTGAAAAAGAACTCTGACACATAGGAAAGGAGAATGATGATGACCATGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGN	pathogenic	15,043
Gene GATAD2B (GATA zinc finger domain containing 2B) variant at chromosome 1, position 153818821—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']	TGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTG	TGAGCTAACATTGCTAAGAGAGAAATAAAGGCCACGCGTGGTGGCTCACGCCTATAATCTCAGCACTTTGGGAGGCCGAGGTAGGCAGATCACTTGAGGTGAGGAGTTTGAGACCAGCCTGGCCAACATGGTCAAACTCTGTCTCTACGAAAAATACACAAAATTAGCTGGAAATTCCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGTGAGATTCCAGCTCAAAAAACAAACAAACAAACAAACAAAAAAGAGACAGAAATAAGATTTTGCTTTCTGTCACACATCCTTGTGCTTCTTATTCCCTAGATCACTCTCTTCTAGGCAGATTTTTAGCTTACTGCTGCTCTGCTGTATAACCTCTCTCCTCCACTACTATTTTAATATAATTCCTCAAAGCTTCTACTTTTGGGACTGCTCTCAATTAAATCCCTACCAAAATAACCATTTTTGTCCTAGAGTTTATCTATGTATAAAAACTTAAAACCTATGGCCCTTTCGACAAGCAAAGCAAACAAAGGGATTTCTCTGTTTCCACATTAGGGCTCAGCTCTCTCTTACCGGTTGATAATTGATGGCGGGATTCATGTTGGGTGTTGTGGTGCGTACAAGGCCAGGCTTAGGCGGGCCCCGCTGACCCTGTAGCTGGGCTGGGTTTGGTGCAATAACACGTTGAGACATCAACATGTGTGGAAGGGTGGTATTGGTAGCTGAACGGATGACACTGTGACCCTGGAGGGGAAGAAGAGGAAAAGAACTAATCACAGGTTGTACGCTGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGNN	pathogenic	15,046
For chromosome 1, position 153819635, gene GATAD2B (GATA zinc finger domain containing 2B): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Severe_intellectual_disability-poor_language-strabismus-grimacing_face-long_fingers_syndrome']	TGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAACTTAAACCCTTAATGATCACAGATCGCTAGCTGTCCACTTCTCAGGGTTTCTTGTCCTAGTTGCTGTTGGCACATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTATTGCCCAGGCTGGAGTGTAGTGGTGCTTGCTACATTCTCAAACTCCTGGCCCCAAGAGATTCCCCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACTGTGCCTGGCTAATTTTTTATTTTTTTGTAAGGGGTGGGGGTCTTGCTATGCTGCCCAGGCTAGTCTTGAATTCCTGGGTTCAAGTGATCCTGCTGCCTCAGCCACCCAAAGTGTTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAGGACATGGATACTTTTGAACAGGGAACCCCGATCACTGGAATAAGCAATTTCCTAACAGGGTAAATCTGAGTTGCTAAAATCAACCAAACTTAGGTAAGGAAATAGAATAGGAGGATAGAAAGGTAAGAATGACTATCTTGTGAACTATTAAATTTGTCTAGATTGCTGGCCACAGACACAGCAAGCTGAGAAGGTAGAAATACAGAAAAAGCCACTAGAGGGAGAAAAGAGCCTTTCATTCTCTAACCCCAAATATGAGGAGTAACAGGCCTGAATAAAGTGTCTGCATTCTTTTTTTTGAGATGGATTCTGGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGGAACCTCCGTCTCCTGGGTTCAAGTGATTCTCCTGCCT	TGTGTATAATACAGCACAAAATGCAAAAGGGAAAACACTGCCTATAATACATAGCTAAGTAGAAACACAGGAACACAGCCAGACTTGGTAATTTCATTTAATGGTCTATGGGATAAATCTACCATCATTGTAAACCCTGATTAGTGGCTGGGAAGTCCTTGGCTTTTTTTGGTATAAACTATCTAATCCTATAGGGTTAGATAGAAAACTATCTACCCCTTCTCTAGAGAAGCTGGAAGCATTCTCTAGACAAGAAAAACTACAGTGGAAACATGAAAGTTACTCATCCTTCTACTGAAGACTAAATCATGCCATAATGGGCCAACAGAACAATCAGTAGTAATAACACCTCTATCATGGCCAGGTTCTTCTATAATCTTCACAAAAGCCCAAAAACAGAGACAGGATTAGACACGGCCCTCCAACACTAAGATCCCACTATGGGTCACATACCTGTAATGTTCTCAAATTTTGAGGTTCAACCCCTTGGGCCCCAGGCCGAGAGGGAAGCTTAGATAGGCCCTGCTGTCCCACATGGGCAGGAGATGGCTGAACAATAGATGCTGCATTCTGTACAACTGGAGTCTGGGAGAGGGAAGAGAAAATAAGACTGTGGCCAATAATCACAGGTGGAAATTTGGTACATTTCTAGACTTTAAAAATTCCTGGTCAGTGTGAGGTTCTTGTCAATCAGGAGGAAAAACCAGAAAAAGGGAGTCAAGGTTTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCTGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGACCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGCTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAGTTACAGGCGTGAGCCACCGCACCTGGCTGGGAGTCAAGGTTTTCTTAAGGCCTAAGATTAAAAAAAAAATCACTACTACTACAGACTAAAAAACTACGGACCCAGAGAAGAAATGAGCCACCCAACTGAACCTACCTGGGGGAACCTACTCTCAAACCAGTTTTTCTTTCCTTTCCCTTAGTCCCTTATTTCTAGGGCACATTACCTTCTGGACCACATTCTCTTTCTGTAGCTGACTCTGTCTCAGTTTCTTTAACAGGACCAGTCGGGCTTCTTCCAATCGTAGCTCATCCCTCAGCTGCTTGATAAGCTGCTGCCGCTCCTCAATGCCTTTCCCCTAAGGAAACAAGAAGACTTTCAGCTATGGCAGCAAGGTACCCAGAATTCCTTCCTGCAAGAGACAATCTTTACTTCTTAGCTCTGAAACCTTCATCTTCCACAAGAAGCAGAAGTGGCAATAGGATTATCTTTGTATCACTGGAGTCTGGCACAGTGCCTGGCATTCAGTAGGTACTCAAAGAAATGCTTACAGAATTAAAGGACAGACCACGTATAAATGCTAATCAGCCAGATTCCTGGCAAAAAGAAGAATGACTAAAGAGAAACATTGTCTTCTTTTAAAATAATGTTCCTAAATCTCTTAAAGCCACATTTCCTCTAGATATACATAAAAACTTAGGAATCCCTTCATATTCAGTTACTTAGGTTAGAGTGCAGAAAGTATCCTTACAGCCAAGAGTTTACTTTATATGACTTAATTATGAACTTTTGTTTTCATTTTCCAAAGATAAATAACACTGAGTATAATGGCCTACATATATGCTTTTCAAACTGTCGTCTCCACTTGCTTCTAATAGTTCCTTTTGAAAGCCCTTGAAGTCAAGAGTTACTATAAAGTTTTCATCAATGGGTATTTATATCCAAAGAGTAAATAGTCAAAAAACAGAACTAAATCTCTTGAGGAATTAAATAAAATAGAAGGAGCATAACAAGAAGAAAGAAATTTTTCTTTCTTTTTACCTTAAACATCTCTAAGTTGGCTGCTTTGAGTCTTCCATTCTGGAACTGGAACGGGGACTGGAAGCCTCATTGTCAGACAAAACAATGATGTCTGGTGAGGGAGTTAGCCTTCCTCGCTCTGGCTCACTAGACAAGAAAGGGAAAAAATAAGCTATTTCCAACAAAAGTTAAGAAAACTTCTATGCTGAATTAAAAAAATCCAAGGGGGGCCGGGTGCGGTGGCTCACTCCTGTAATCCTAGCACTTTGGGAGACCGAGGCGGGTGGAACACCTGGGGTCAGGAGTTCGAGACCAGCCTGACCGACATGGTGAAACCCCGTCTCTACTAAAAATAAAAAATTAGCTGCGCATGGCGGCGCGCACCTGTAGTCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGCGAGGTTCCCGTCTCAAAAAAAAAAAAAAAAAAGAATAGTCTATCCTGTCAAGAGTAGGTACTGAAGAGTACACAAAAGAAGGAAGTATTAATAATTTGAGGGAATAGTGCCAAGAATATTGTCTACAGCCTTACAGAAAAGGATTAAACCTCCAGAACCAAATATATTGAACTTGCATCTACTTACCAGAGTTTTATCCAGCATCTTACCTCAAAAAGAGTCTAGAAATTACTTTGAAATCTAAATCTCCTGCACTGACTCCTCTTACTCCTAATCCTATTTACTAGATAACTCTCATTTAGGTCATTCTGGGGTTAGCCTTAAAAGCATCATGCTTATTTGTGTAAGATGATAAAAAATGGCACATACTGCTTAAGACCTAGGTAACAAGAATTCCGGAAACTCTAACTGCCTCAGGTTCCCAAATCCGTGACTGTATCTTCTAATTCTCCTCTAATTTCAAAGATACATTCCCAGATCCTACTTTCCTTGAGATTGTCAGCGTAGTTGGTAGTATATAGGTCGAGGGCAATTGTTCTTTGGTCCTTTTTTTTTTCCCTCTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTCCAGTGGCCCGATCACAGCTCACTGCAGCCTTGACCTCCTGAGCTCAAGCGATCCTCCCACCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGTGCCGCTACGCCCGGCTAATTTTTGTACTTTTTGTAGAGACAGGGTCTTACTATGTTGCCCAAGCTGGTCTTAAGCGACCCTCCCGCCTTGGCCTCCCCTTTGGCCTTAAACAATCAACTTAAACCCTTAATGATCACAGATCGCTAGCTGTCCACTTCTCAGGGTTTCTTGTCCTAGTTGCTGTTGGCACATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCTATTGCCCAGGCTGGAGTGTAGTGGTGCTTGCTACATTCTCAAACTCCTGGCCCCAAGAGATTCCCCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACACCACTGTGCCTGGCTAATTTTTTATTTTTTTGTAAGGGGTGGGGGTCTTGCTATGCTGCCCAGGCTAGTCTTGAATTCCTGGGTTCAAGTGATCCTGCTGCCTCAGCCACCCAAAGTGTTGGAATTACAGGTGTGAGCCACCATGCCCAGCCAGGACATGGATACTTTTGAACAGGGAACCCCGATCACTGGAATAAGCAATTTCCTAACAGGGTAAATCTGAGTTGCTAAAATCAACCAAACTTAGGTAAGGAAATAGAATAGGAGGATAGAAAGGTAAGAATGACTATCTTGTGAACTATTAAATTTGTCTAGATTGCTGGCCACAGACACAGCAAGCTGAGAAGGTAGAAATACAGAAAAAGCCACTAGAGGGAGAAAAGAGCCTTTCATTCTCTAACCCCAAATATGAGGAGTAACAGGCCTGAATAAAGTGTCTGCATTCTTTTTTTTGAGATGGATTCTGGCTCTGTCGCCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGGAACCTCCGTCTCCTGGGTTCAAGTGATTCTCCTGCCTNNNN	pathogenic	15,050
Evaluate this variant at chromosome 1, position 154273372, gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Kostmann_syndrome', 'Severe_congenital_neutropenia']	TTGGAGTGGGGTGAGGGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTG	TTGGAGTGGGGTGAGGGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGN	pathogenic	15,096
Chromosome 1, position 154273387, gene HAX1 (HCLS1 associated protein X-1): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	benign	GGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGG	GGATGAAAGACTACATATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGNNN	benign	15,097
Benign or pathogenic: chromosome 1, position 154273402, gene HAX1 (HCLS1 associated protein X-1) variant? Disease(s) if pathogenic?	pathogenic; ['Kostmann_syndrome']	TATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTA	TATTGGGTACAGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGT	pathogenic	15,099
Evaluate if the mutation on chromosome 1 at position 154273412 in HAX1 (HCLS1 associated protein X-1) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Kostmann_syndrome']	AGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACG	AGTGTACACTGCTCGGGTGATGGGTGCGCTAAAGTCGCAGAAATCACTAAAGAACTCATCCATGTAACCAAACACCACCTGTACCCCAAAAACGAAATAAAAAAACAAAACCTTGGGGCCCATTCCCCCTAGGAATGGACTACTGTAGTAGTGGCTTCTTGGATGCTTCTCTGTGACATAGCTATACCCAATTCTTTGAAAAAGAATCTAGAGCAAGGTCTGGCTTGGGGATGGGGTACAGGGAGAGACAGGTCTCGGAGAGGTTTTGAACAAAACACTTTTAAAAAGGAATGAGGACAGGCGCTTTGGGAGGCTGGGTTGGGCGGATCACCTTAGGTCAGGAGTTCGAGACCAGCCTGGTCAACATGGTGAAACCCCGTTTCTACAAAAAATACAAAAGTAGCCGGGCGTGGAGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATAGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACAC	pathogenic	15,102
A mutation at chromosome position 154273863 on chromosome 1 in gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Kostmann_syndrome']	GACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTT	GACAGGAGAGAACCTGGGAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCCCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTN	pathogenic	15,114
Evaluate the clinical significance of the mutation at chromosome 1, position 154273880 in gene HAX1 (HCLS1 associated protein X-1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Inborn_genetic_diseases', 'Kostmann_syndrome']	GAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAACA	GAGGCGAAGGTTGCAGTGAGCCGACATGGTGCCACTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAAC	pathogenic	15,117
Variant at chromosome 1, position 154273914, gene HAX1 (HCLS1 associated protein X-1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Kostmann_syndrome']	CTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAACACTTCCGAAATTATCTTGGTCCTCTGCCTTCTCCT	CTGCACTCCAGCCTGGGAAACATGAGAGAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATACCAAAGGGATATTTCTTTATAACCCCCAATTTGTTCCTTCTCAGGACTCAACTAGCTTCCCTTCCCTTGCTTTCTTAAAAATCCTTTGTCTTGCTGGTTGCAGAGCCTGCTTAGAAAAAAGAATTCTATATAGTTATAACAAACTCCCTAGTAGCTAGAGAGGTGGAGGAAGTTAAGTCCATGCGTCTCTTATGTCTTGATCTCTTCTCTGGGAAATTCAATACTAGAAGGAGCTTGGAAAAGCATTTTGTTCATCCCTCTAACAGCAGACATCGCCCAGGTCAGTCAAAAAGAACGCCCGAGTAAGGAGCGAGGTGGCTTCTGCTGTGAGGCTGGCCAGCCCCGCGGGTGGGGTGGTTGAGGGACGCCCTCAAGCCGGTCCATTTGTGCGGCTGGGCTGCCCTCTGGCGGCTTTATCCGGGTGCCATCCAGAGTCAAACCCTCGAAATCGCTTTTCGTACTGAGTTGGTCTGCAGAAAGAAGAACAGATTTAGGAGGAAGGCGGTCATAGGAAACTGAAAGTGCGTCACGCCCACTCCCGTCACGGAAACTGGTCTCTGAAAGGTGGGGTAAAGATAAAGCCTTTCAAATTTGAGGAAGACCTTCGGTCCCGCCTCCATTTCACGTCCGGCTTACCGTCGTTTACGACAGTGTCAGGATCGCGGGCTTGCTTTCCGGTAGCGTGGGCTGACGCCTCGCTCAATTTCTCACAGGGCTGCGCAGGTTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGGTTCGCGTCCCAGTACGGGAATGAGCCTCTTTGATCTCTTCCGGGGCTTTTTCGGCTTTCCTGGACCTCGGAGGTGAGAGTAGGTCCGGCTCGGACAAGGGTGGGGGTCGTCTGAGGGGAGCTTGACCCCTACGTCTTATTTTTGGAAAAACATCCTCTGTCCCACTCCTTCAACTCCTGCAGAGAGGACAGAAGTCGCAACATTGAACACTCACCCCGCCACAGTAACCAAGGCGGTCATTAAGAGGAGAAACAGCAAACTAAGCCTTTCTCCAACCTGGGGTGATGCAACAGGGACCCGGGCGGGGAAGACCGTGAGGGTCTGGGGAATAAGACAGTGAGCAAGTGAGCAGGACCTTGGGAGAGAGAGGAGGGACTGGGGCACACTGAAGAAAAACTGGGGGAAGGTGTATGAAGGGAGCTGCGAGCTGAGGTCTGACTTTGATTAAAAAAAAAAAAAAAAAAAAAGAACTGTCAGCCATTGTATTAATGTTTTGATGTGGCAGCCAGTCCTCCGACCCTCTCCCTAGCTTCCCAGACCCCTTGCTCTTGTCCCACTTTGCCACCCATGAGTTGATTTAATGGCTTAAATAGTGCTGAAATATTGGTGGCCAATCTGCCTCCACTCTCAGCCACAGAGATCCCTTTTTTGGAGGGATGACTCGAGATGAAGATGATGATGAGGAAGAAGAAGAAGAAGGGGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTCAGCACCCCCCTGAGGAATTTGGCTTCGGCTTCAGCTTCAGCCCAGGAGGAGGGATACGTTTCCACGATAACTTCGGCTTTGATGACCTAGTACGAGATTTCAATAGCATCTTCAGCGATATGGGGGCCTGGACCTTGCCTTCCCATCCTCCTGGTGTGTGGCTTTCCCTAAGGGGCAACCTGTGGTTTCTGGTGGGTTGGTGGGTGAAATAAAGAGCCTGCAGGGAGTAGCTGGGGGATGGGAAGTGTGAGAAGACTGATGATTTCAGAGAGATTAATAGAGCCCAAGTCCTTTCCCATCCCAGCAAACACCTGCCACCTTTCTGCAGAACTTCCAGGTCCTGAGTCAGAGACACCTGGTGAGAGACTACGGGAGGGACAGACACTTCGGGACTCAATGCTTAAGTATCCAGATAGTCACCAGCCCAGGATCTTTGGGGGGGTCTTGGAGAGTGATGCAAGAAGTGAATCCCCCCCAACCAGCACCAGACTGGGGCTCCCAGAGGCCATTTCATAGGGTGAGTATCCCATCTGGTCCTGAAGTGAGAGCTTGTGAGAGACCACTAATAAAGTGCAAAGACTGGCTAGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCAGAGGTCAGGAGTTGGAGACCAGCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAATGCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGGTTGAACCCAGGAGGTGGAGACTCCATCTCAAAAATTGTTTGAGACCCAGCCTTGCTCTGTTGCCCAGGCTGTAGTGCCGTGGCACAATCTCAGCTCACTGCAACCTCCAATTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGTCGCCTGCCAAACGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGCGTTTCACCGTGTTGGCCAGGCTGCTTTTGAGCTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGAATTACAAGTGTGAGCCATCATGCCTGGCCAAAGATTGCAATTCTTGTTTGAATCTGATAGCCTTGGGTTGGAATCCTAAGCCCTCCATTTAGTGTTTTCTGTTTTCTATATTAAGCTTGTGGGATTTTCTTTGGGGGGAGATGGGTGTTCTGTTTCTTTTAAAAAACAAAAACAAAAAAACACCACTGGTCTAGATAATTCTTGGATAAGGCAGGATTGTGCACAGAGGATAGGAATATATCAGTTCAGGAAGTCTTTCTGGTAGAAGGATACATAAAACAGCCAGGAAGGAGTGTGTAAATAAGGCTATTCTGAATGGAATTATCTCTTCTGTGGAAGGGGGTTTTGGAGCTCGGGAGTAGTTTGAGGTCTATGACCTTTCAAATTTCAGATTGGAAGGAGTCTTTTCACTTACTATGGTTTCTTCTGCAGTTTGATGATGTATGGCCTATGGACCCCCATCCTAGAACCAGAGAGGACAATGGTAAGTCTGGAGGAAGGGGAAGTTTACCAGCCTTTTGTTATTCTTCTGAAGTTCTGTGTGTTCTCCCTCCCTGAAGTTTCTTCCTGTACACTTGTCTCCTTTTTTCCTTTGGACTCTTTCTCTCCTGCTTCTTCATCTCTCTGCTCTTCCAGATCTTGATTCCCAGGTTTCCCAGGAGGGTCTTGGCCCGGTTCTACAGCCCCAGCCCAAATCCTATTTCAAGAGCATCTCTGTGACCAAGATCACTAAACCAGATGGGGTGAGTTGAAAGAAAGAGGTAAAGGAAAGTATGGCCAGGGAACGAATGCCCTGAAACAGGGATCTGTGTAAAGAAACTGCTGAGCATAACCTTTAGTAACATTCGGAATATGGTGGGGACTTCTCTTTGTAGATAGTGGAGGAGCGCCGGACTGTGGTGGACAGTGAGGGCCGGACAGAGACTACAGTAACCCGACACGAAGCAGATAGCAGTCCTAGGGGTGGTAAGTTAAAAGACAAAGGGGTTCATCTCAAGATTCCTTGGGGAAGGGAAATCTTACTCTTCTACCCTTGTCCTTTGCTTCTGCCTAGTCTCTTTCATTTAGCCTATTTACGTGTATGACTTTCTTCCTTAGATCCAGAATCACCAAGACCTCCAGCCCTGGATGATGCCTTTTCCATCCTGGACTTATTCCTGGGACGTTGGTTCCGGTCCCGGTAGCCTTGTTAACCCTCAGAGGCCTTCAAGTCCTTTCCACCTCTCACCCATTGCCCACCATTAATAAGCTTAGCTTCTCTTGCCACCTCAGGGGCTTGGATATGTGGAATAGTGAACTGGGGCCATGTCAGTTTGTCACTCACCCAAACTGACCAATAAAACCTTTATTTATGCTAATTTTTTGTCTTGGTTTTGTCAAGGCTATTTCAGTTTCTAGAACCATCCAACACTTCCGAAATTATCTTGGTCCTCTGCCTTCTCC	pathogenic	15,121
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154585296, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic?	pathogenic; ['Aicardi-Goutieres_syndrome_6', 'Symmetrical_dyschromatosis_of_extremities']	ACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAAATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAA	ACTGCAGCCATCACCACGGCACCAAGTCTATGCTTGGGCTCTTCCCTGCTCTGCTCTTGGAGTCATGACCAACACTCTAAAAGCCAACAAAGTCCCTTCAACATGAGTAAAGGAAACAGTTTCAAGCACTGACAGTTTTTACGAGTGACTATTCAAAGAATGCACAGGAGCCAGAGAGCCAGACTCCACAGAGAGGCCAAAGGCTCTGAACACACGAGTCAATGTTCATGGAGGTATAGACAAAGGATTCTACCTCACAGAGTTTGAAGACAACCTGCCCTTTCACCCACAACTACTGCTTTCTATGTCAACCCTATAAAGATCAGGTCTGCGCCCTGCCCACGAGCCTACTTCTGAAGCCATCTGGAAAAATGAAAGCACTTGGATAAATGGAAAAGTATGCCTGAATTTTAAATCTGCTCAATTACAGGTTATCTGTAGCAGTTAAGAATCAACATCTATGGCATTCTTTAAAACACTCCTAATTTACATGTGACTTAGTCAACTTCCCTTGGTGTCACTGTCATGAGAGATATTACACCGGGTGGAACAGTGACGTTAAGCCAACAGGATTTTTTGCCCTTATTCTTGCTAAGTCATGATTATCTGAGCAGAGATGATTTTATACCCTCTAGGATTTGTCCCGTTGGCTAGGGTGTACGCCCAGCATTGGCGGGGAAAATATTCCTAGGAATGCTTTAGGAGAAGAGGCAGCTGGAAGCTTGGCAATATTCCAAGGCATGCCCGTGCTCCCTGGGAAGTGGTCTGTGTCATCCTGCCGGGTGAAACCTCTGCTATTGCTTGAGCAGCTCCCTTAACCCAGTCTGGCTGGTTCTAGACTTCCCAGCTGCCGGAGAAAGTGATACACTTCCAGGGAAGCAGCTTTCCTTGCCTTGCCCGCCCTGCAGCTGGCTAAAGTGCAGGATGGGAGGATGGCTGGGCATTATCTGCAGGCTCCAATCACACTTCCGTGGCACTGGGAACTGCAGTTTTCAACTCCTACCCTTACAAATGTTTCACCAAATCCTTTATGTTCACCTCTTTGCCCTCTGAGGGGGAAAAGGAGACATTCAGATCACAAGGAAAGAATCTCAGAAGGGAAAGAGGGGAAGTAGAGGGGTCTGCGTAATCCACAAATGAAATTATCAGTCCCTGACATGATCCAGAGTTGACTGAAACCTAATCAAGACCGCAAGAGGTCAGTGTAGCAAACACAAAGGGAAAGGAAATGGAAACAAATCAAAACAAAACTTTTAAGAGGAAATGGACCGCAGGTGCTCAGTGACTATGTATGCTTTGGGTAGAAAGAAAAGATAACTTCTTAGGTTTCTGCCTCTTCACTTGGGGGAAAAAAGGGGGGCCTGGCCAGACCTTGCCTAGCAATCCCAAAGAAAGCAGGATAAATGGGAACCCAAAGTTTTCAGTATCACCAATTATGGCTTAAAAAGAAAAAAAAAGGAGAAAAAAAAATCCCCTGACCATGTGATGAGGAATGCTACGACCTACCTCTCTCACACCCTAGTATGACACACCCTAATCCATCTGTCACTGGAGCATACTATACTGGGCAGAGATAAAAGTTCTTTTCCTCCTGGGGTTTGCTAATCCAGTTCCCATAGCCCATATCCTTCAGGCCTTTTTTGAAGTAGTTCTTGGCCGTCTCGTAGTCACGGGCAGCTTTCTTGGCCTCACCATAGGAGAGTCTCAGTAGATCCCTGCGGTAACGGAAGGAGCAGAGCTTCTTAAATAGAAGAAAAATGTTCTTTTTGGAGACCCGGGACAATTCATTCCGTGGCCTAGAGAAACAAAAGCACTCATTATTCACCTGGGACCTGTAAGATAAGGAGCTCACAGTGGAGACACCGTGGGAGGGGAGGCGGCTCTCAAGCCCTGAGACTGCAGAGGTATGATGCACCCTTGCAAGTCAGGGCAGAGGCTTGGTCCTCACTGCGCTCTCCTGTCTCCTTACCCATCCACAGTGCCTCTGGTACCGTCCAGGATCTCCAGGTCATAGCCATCAGCCAGACACCAGTTGACGCTTGTCTCCTTAAGTCTTCCCGGATTGCCTTTTGGAATCATATATGCTGACTCTGCCAACCTAGGAATCCCAGAAGCAACGGGAGAAAGATGGAAACCTTTCAGGAATAAGATTCTGAAGCAGGGACTCAAGACTCATAGGAGAGAGGAAGTGTGGGGTCATGATCTTTCCCCTGTATTTAGGGTTCTGTTTGGCTAAGACTGAGCACCCTCTAGACATACTAACTCCACCTCGATTCAGATTAATTCCAGACTAAGAGAAGAAAAGCCCTTGGCATCCAAAAGGAAGAAAGTTTAAGTTCTTGGGAGACCAACCAATGTTGGTGGTGGGCCACTGTGGGCAATGTTCCCTTGTGGGCTACCACTGTGGGCAATGTTCCCCTTGCCCACAGTGTACATTTTTCCTCTGTTTACATGACTGCTTGAAAAGGAGGAAAATGTCAGGGAAAATAGAAGGGGGTTATAGCACCTTGGGGTGGTTGACAATAAAGGGATGTCGTAGTCCATCCTCAAATGCACTCCCATCTCTTGTCACACGACAGCAAATAGCACGGGTCAGATGCCCTTGGCTGAAAAGGTAACCTGAGTACAAAAAAGAGAAACATATATACCTGTGTTTGCACCAAATGCTGTTAAGAGGCAGAAGCATGTGGGGATTTTGGAGGTACAAGATATAGTTGTCAAGAAAGAGAAACAGCTGCCTTGTTAGGAAGCACCTTCTGACTGGGGCTACCAGGATCTTCCTACCACAGCAGACTGGACACTCAATCAATTACTGAGGAGTGAATCATGCTCACTTTGATAAGGGAGACAAAACACCTGGCAATAAAGCATGCAGTTTGGGATCTGGGCACAAGAAGGACAGACCAGTTCCAGATCCCAAGGCAGGCCCCTTACCCAATGTGACAGATTTGAGATAAATGGGCTGCAGGAAGTGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCA	pathogenic	15,246
Gene mutation in ADAR (adenosine deaminase RNA specific) at chromosome 1, position 154588267—is it benign or pathogenic? If pathogenic, specify the disease(s).	benign	TGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGA	TGGGTCAACAGTGCCCCTTGCAGGCCCAGCACGTTCCAGCGTAGGATTTTGTCACTACAGGACATGGTACGGAGTCTCTCCCCGAGCCGAATGCCATCCCACGTAGGCACAATGTCACTGGATTCCACAGGGATTGTGCCTTCTCCTGTGTGAGAGACTTGGGTCAGACCCACAGGCGCCAATGGACCAAACCACTCCCTGGCGTGGTTTCTATCCTCCTTAAGCTTGGGCCACAGGCTACATTCATTCATTCTTCACATATTTCACAGCCCCTGCTATGCGCCAGGCACTATGCTTGGTGCTGGGAAAGAACGGTGAGCAAAACCAAGTAAGATCTTTGTGCTCTTAAAACATCTATGGTGGTGAGGAGATTGAAAGGGAAGAGAATAGACACTAAACCAGTAGCCAGTACATACGGAAGAATTCCAGATGCTGACAGTGCTCTGAAGGCTCTGAGGCAGCTATGACGGAGGACCACAGGGGACACCTCCTGGGACAGCAGCAGCAGGGGAGCCCAGACATGGAGGAGGACAGCTGGAGTAAGTGTTTCAGGCACACAGGACAAAAGCAAAGGCCCCAAGGCAGCCAGCGGATTGGCTGTTCAGGCGCCTGACAGAGAGCCAGTGTGGACAGAGCATATGCGAGGGATGGGGAAAGTGGCATGAGAGGAGGCCGGGTGATCACAGCAGGTTTTGCTTGTATATGCAGTGCAGTGGGAAACCACTATCGGGTTTAAAAAAAAACAAAAAAAAATGCTTTACTGAGATATAGTTCATATGCCATACAGTTCACCCATTTAAAGCATACAATTCAGTCATTTTTAGTATATTCACAGAGTTCTGCAACTGTCACCACAGTCAATTTTAGAACATTTCATCGCTCCAAAAAGAAACCTTCTACCCATTGGCGCAGTCACTCCTCATCTCTCCAACTCTCCCACTCCTGGCCCTGGCAACCACTCATCTACTTTCTGTCTCTATGGATTTGTCTATTCTGGACATTTCATATAAATGGAATCATACAATATGTGATCTTTTGTGACTGGCTTTTTTCATTTGGCATCAAGTTTTCAAGTGCATCCATATTGTAAGCATGTATCAGCACTTCACTTCTTTTTATGGCCAAAATAATATTCAATTTATGGATATATTTGATGTTTTATTTATGAATCCATCAGCTGATGGACGTCTGGGTTGTTTCCACTTTTTTGGCTCTTGTGAGTAATGCTGCCATGAACATTCACATATTAGTTTCCGTGTGGACACAGATCTCCATCTCTCTGCAGCATATACCTAGGAGTGGAGCACCGGCTCCATGGTAACTGTGTCTATACTTTAGGGTATTTAGCAAGGTTTCAGGACCACCATGATGACTGCTGACGTGGCCTGAACGCAATGGAGTGGATGCGAAGAGACAGTAAGGAGACAGGAGAGGATAGGAGAGAAGGAGCCAGTGGACAAGGCAGAGTCAACTGCCAGCTAGACAGGAGGGGACCCCAGCATTTGGCATCCTCATCTGTCAACTCCTCAGGGCTTGGTTGTGCCGCACTCTTCATTTCCTCCCCGCTTTCTTGAGGTAATCCTATGCATTCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGANN	benign	15,254
Mutation found at chromosome 1 position 154589856, gene ADAR: benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Aicardi-Goutieres_syndrome_6']	TCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAA	TCTCATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAANNNN	pathogenic	15,262
Variant at chromosome 1, position 154589860, gene ADAR: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Aicardi-Goutieres_syndrome_6', 'Symmetrical_dyschromatosis_of_extremities']	ATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGAA	ATGGCCATGAAGACCCTATAGGGGGATGACTCCCATATTTCTATTTCCAGCCAAGCTCCCTCCTCTGAGCTCCACATGGGAACCCCCACCTCCTATTTGACTTGGGGATCTCCCAGATCTCCCAAACTAACACATTCAAAATAGAACCCTGATCTTACCACACAGCTCCCTGACCCAGGTCTTCCCTTTCCTGTAAACAGCACCTCTGTGCCCAGTGACTAATGGTAAAATCCTAGCAGCCTTGTAGAGACTTGGGGTCCCTGGACCTTGCAGAGCCTTTTGAGGAAAGGAGGCGGGGGCATGTATCACTCACCGTTCTCCACCTTGGTGCGGAGCTTTCCTTGTTTGGGATTCTCGAAGACAGGGTAGTGGCGGGATTCTGTGCTTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGA	pathogenic	15,263
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154590245, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic?	pathogenic; ['ADAR-related_type_1_interferonopathy', 'Aicardi-Goutieres_syndrome_6', 'Inborn_genetic_diseases', 'Symmetrical_dyschromatosis_of_extremities']	TTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCCTGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGAAGATGGTGAAGGCGGTCAGGAGGGACAGATTGTGTAGTATCTTTACCTCAGGGATCCAGGAGAATTTCATGACTGCCCCATGTGTTTGAAAAGAATATGAACTCTTACGTGCAAAGTTTTATACTGATATATTTACATATATGATAAAGTTTGTTAATTATGCAACTAGAATCCTTTAGAGCTGTGCTATCCAATATGGTAGCCACTAGCCAAATGGGGCTATTGCCATAAGTGCCTCCTCTCAGCCTCTTTGCCAGCTCTGCGCTTCTCCCACCACAGGATTTAACAGTGTCCTTCGCCTAGAACCCTCAGTCTTTCTCTCTTCATCATCCTTAAAGTCTCAGCTCAGGCAGTACTTCTTGGGGAAGCCCTTCCCCCTCTCCTTC	TTTCCATAGCACGGTCGCTGCAGGACTTGTCAAAGAGGGCGCCATCTCCACACGGAGCAGTGCTGAAAAACAGGGGTGGCTGTTAAAACTCACCTGTGGGAAATCTGCAATTTCGTGGGGCTCCAAAACAGTCAGATGTGACAGAAGCAAGGGATGTTTTCTAAGGCCTACCATGGGAGACTGGAGGTGGACAGCAGTACATGTGAGTCATCTACACCTGAATATGGACCTCAAACCCACAGTGGAGTGTGGCTTATTGTATCAGGTTCGATTTACAGGCCAGGAGAGCATTTGGATACCCAATTCTAACAGCCTGGCAGGGCCCACCCTGGCAGCAACAGGAACTGTACAGACCTGATATACAGATGGAATGACACAGTCTTTTTTATTTGGAGCTTTTCTCCTCCCTTAGCAGGTTCAAATATACTATCCTTCGCAGTCTGGGAGTTGTATTTCATTAACTCACTGTAGAGAAACCTACAAAAAGAAAGTCTGGTTAGGAAGGCAGGTTCAATTCTGGGAAAAGCAGTTGTTTCTATAATCTGACCTCCAAATGAGAAAGTAAGGAAAAGTCTCAATGTTGCAGACGTTTCACAGTTTATCAGGTGGAAATTCTCCAGGGGAGACCTCAGCATTTCATAAAGCATAGTTAGCCTTTTGGGTCTCCTTCATTTCTGCTGAGGGCTCCTCGCTATGGCGGCTACAGGGATTCTAGAGCAGAGCAAACTGATTCAAGGACTACAGGAAGCTGTTGCTCCTTTCTAAGTCTCTCCCTTCATAAATTAAAGAAAAGGTGAGCTAGAGGAGAAAGCTGGCAGGGGCATCAAGGTTGTGTAGGTCCTCAAACGGAAATGGAAAGCTGCCTCATCCTCAAGGCCCTGAGGACTAAAAGGTCATTTTGTGTTTTTAGAAAAGAACATGAAGCAGCAGAGTTAGCAGAAAAAAGGACAGCATTTAAAAACAGGCCGAGCAGTGGGAGGCAGCTCAGCTCACAGAGGGGATGGATTCCATCAGACAGGTTCAAATGGACGGGTGAAAAGCAAAGGCTGCCACTGCCACATCATGACCCGTCTGTCTGAGGGGGATTCAGAGGCCGTGTCAGAGCCATGTGGGGCAGGGAACTGGAGCTCTCCACAGCCGGGCAGCCGGGCCACAGCTCTGACCTCGCTCACCTGATGAAGCCTCTCCGGGAGATTATTTCTGCATGGCAGTCATTGACAGTTTCTCCTTTTAGGCTGAGAGAATCTCCTTTCACACAGCGATTCCCTAGGAAGGTGTTTAAAACAGAAATAGAATAATGGAAGGAAACCGATGGAAAACAGGATGAAGGCTATTTGTTCTGAAAGCTTCAAGGCAGAAACAGCCTCAGTTTCTCAGATCCTAGACTCCCATATTCTCTCCTCTAGGAACTAAGAACTCATTCCTCACTCTGAATTGACTGTAGCTAAAATGAAGTCTCTTCTCCCTGCCTTGGACTTACATGCATGGACTCCAGGGGAGGATGAGAGGCACCCGCTTTCAGGCGCCATGGGAGGCGGCATGTCTCAGAGCCTCACTCACCTGTTCCCAAGCTGACGACGACACCCATGTCCTCAGAGTCTTTTTTCATAATGATGGCGGCCAGAATCTTGCGGCCGAGCAAGGAGGGCTGGAAGCTGTTAGTCAGAGTGTTGAAGCACCGGTGGCTCAGCATGGCTATCTGGTCATGGAAGGTGCTGCCAGTGAGAGGGAGCTGTGGGGAAAAGAGGCTGTGTCAGCACCACAAAGCTGAGGCTGTGTCCACCATATTCACCGTGGGCAGGGAGATCAAGCTCTACTTGTCGTGTGAGTCATCTTTTCCTTCTTACATCTAGTGTCCCAGTTACTGCTCTCTCGAGGCTAAGAGTAAAGCCTAGGAATAACTCGCATGACAGCAAGAGCCACCTCCACTTAGGAGTTAGGAGGACCCCCCCGCCCCAAAAAAGGCACCAAAAGTAGACGTCTTAACTGTCTTTGGCTGTGCTTCTGGGGACCTTGAGAGGAGGAGCATAGTTCTTCTGAGACTGGCCCGTCACTGGGGTTACCTCTGTGAAACCCATGCGTTCTGCCTTCTCGTTCTCCCCAATCAAGACACGGAGAGCCGCATCTGCTGCTTCCTGCTTGCCTTGCTTCTTGCTGTGTGCGCAGACGGCTGGGAACCAGCGACCCCCAACTTTTGCTTGGTAAACGAACCTTTGGGATGAGAAACAGAGAATGAAGACAAGTGCCAGACCCTGACATTGTTCCAAGGAAGGGTTAGTTTTGCTGAAGATGTGGCCAGTCTTGCAAACATATGGACCCGTCAAACAGAAGCTGTTTCTAAGGCAGCATTTCCTAGATTTTGGTCATTCATGAATCACCACATGATTTGTGCCACATCCAGGTATTACTTGGACTATTAATTAATATTTTTCTCTAAATTGACTTCTTAGAGCCAGCCATTGTGGCTCACACCTGTAATCCCAGCAACTTGAGGAGCTAAGGTGGGAGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTAATCCCCCAGGCAACATAGCGAGACCCCTGTCTCTTAAAAAAAAAAAAAAAAATTTAGCTGGGCACGGTGGTCTGTGCCTATAGTCTCAGCTACTTGGGAGGCTGGGGTGAGAGGATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAGCTATGACCATATCACTGCACTCCAGCCTGCGCGAGACAGCAAGATCCCCATCTCTAAAATAAACAAACAGACTCTAAAAATGTAAATATCCGTAATACTAGGTATGAAAAAAGAGATAAAAATGTAAACACACTGAAATAGGAAACTTTGTTTCACTACTGTAAATGGAAAACCAGTATCACTTGCCACATATTGAAGGTGGCTGTAAAACAGAATATGATAAAATCATGTTATAAAATTCTGACTAGATACTGTTACCTGCAAAGGCTCTGAGCCTGTCCTTACTATAAAGGAAGATTATGAAGTATGAGGAAGGCTTAACGAAATGCTAGCACCAACTTGGACTCTCTTCTTAAGCAGAAATCAGAAGGGACTACCTTTCTCCCCACAAGTCACTGTTACTTCATACACTGTCTGATTTTTAAAGCGCCCAACTCCATTCCCTCATTTACTTCCTATTAGCTCAAGGGGACTTGACCTGGAGAGGTCATTAGGTCAAGGTCGGCCTTAGGCCAGGGACCCAGGTTTTGCTGGGAGTTGTTTTTTTGACTCCTGGCAGGCTTAAGCTAACTCTGGGGTAAGGAATGGATCTTGGGCGCATGAGCTGCGCTGACAATAAAGTGCCCAAGTGGAGCAGGGAGGTGGCTTCTACCGCTCCGGCTGGTAATTTCCAAACACAGAGGGAAGAGCATGGTGGAGCAAAACAGCTTGGAAATGTACCAGACAAGGCATCAAGAATCCTAGCTTTCAACCAGATCCTAATCTACTGGCTGAGAACCCAGCTTTGGATACTCTAACTGCATATAACAGAGGCTTCAGTTTCAAGACTTAGCAGCTCAGGCAGTAAAAGGAATCAACGTTTATGTTCAACCACATGGAGTTTCTCACTGTTCCTTGATGATCCGAAGCAACTAAATGCCTTCACTCTTTTCTTTGTCCATGCTGGCAGGCCCGTGCAGGCCAGTGGGCTTAAGTTCAGAATGAGAGGGACAGTGGCATGAAAAGAAGATGGTGAAGGCGGTCAGGAGGGACAGATTGTGTAGTATCTTTACCTCAGGGATCCAGGAGAATTTCATGACTGCCCCATGTGTTTGAAAAGAATATGAACTCTTACGTGCAAAGTTTTATACTGATATATTTACATATATGATAAAGTTTGTTAATTATGCAACTAGAATCCTTTAGAGCTGTGCTATCCAATATGGTAGCCACTAGCCAAATGGGGCTATTGCCATAAGTGCCTCCTCTCAGCCTCTTTGCCAGCTCTGCGCTTCTCCCACCACAGGATTTAACAGTGTCCTTCGCCTAGAACCCTCAGTCTTTCTCTCTTCATCATCCTTAAAGTCTCAGCTCAGGCAGTACTTCTTGGGGAAGCCCTTCCCCCTCTCCTTCNN	pathogenic	15,271
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 154598698, gene ADAR (adenosine deaminase RNA specific): what disease(s) if pathogenic?	benign	TATTGTCTTCTAAGAGGCCGTGGAGACAGGGCTGGACTTGTTTCCCTCAACTCGCCCCTTCTGTCCTACACAGCTAAAGCACACCCTTGTTTTCCCTGGGTTACAGACCATCCCCAACTGGTGACACATGCATTAGCCAGGACTAGGACACTCACTTGGGCTCGTGAGGAGGTCCGGACTGGTCGACCAACTTGAATTCAGCAGCAAAGCCATGGGAGCGGGCGTACTCCAAAAGGCCACCCACAGGGTTGGTGTTCAGGTATCTCACGAGCTCGCCAATCTTCCTGACCTTGTTGGGCATCATGGATTCCAAGTTATCAAGTGACTCTGAGATCATACCTTCAGGCTAAAGGAGAATCCATCAAACAGAGGAGCCATAAACACTTCAGGAAATGTTGAGGGAGTCACTGGCAATCTTAAACCACTCAGTTGCTAAAAATGACCTGTATCTTTTGAGTAGGAAAACGCCCTACCTGGTTATCAGAAGCCATGGAGTTGGTCGCCTCCCCATGCAGGGCCTTCATGGCTTCCTCTGCGGCCATCTGCTTTGCCACTTTCTTGCTGGGAGCACTCACACTGGGGAAAGTTTGGGCTCCCACTGCAACACAGTATTGGAACCTGACAGGAGATGAAGCACGTAGAAGGATTAAAATGGTTTTGACTGAGGAGCCTGACCTAGCCTCTGCCAGGCTGCCATCCTCCACTACTGGTAATTTCCTTGAACACATCACCTCTGTGCAGTCACATCTCATGCAGTCACTTCTGCCTTGAACAGCCAGTGTCTCTTAGCCTGGCTGACCCCTTTCAACATTTAAGCATCAACCTAGTTTCACCTCTTCCAGGAACACTTCTCTTGAACATGTGAGTCTATAGACCCACAGGCAGAGAGCTTCTCAGGTCCTGTACCTTTCTGTCCCACCAACAGTGAGTGACCTCCAAGCCGTGAACCTCCCTAGTGCTTATAGAGGAGATAGAGGGTGGGCCAGGAATTCCCTTTGAATTCCTAATCCCTAATTGTCTGCCTCACAAGCAGCAACCAGGACCTCAGAGCCCTCCTTTCCCCATTTTGAAACAGGAGAAATTGGTCAATCTGCCATCCCTGAGGAGGCAAGGAAGAAAATGTGTCTCTTTTTCTTTCTGAGAAAACCTCAGCTGGACAGAGGACACGTAGGACATACTTGGGTTCATGGGCAGGGCCTTCTTTGGACAGGAGACGGAATTCGCAGGAGTTCCCCAATTTGTGCATACACTCAAGCAGTGTGGTGACGGGGCTCTTCCCAGAAAAGAAGGATGTGGCTGAAGGGGTGGGGGTCTGGGACTCTGCAGTCTAGAGAAAATGAGAGACAAGAAGAAAACAAAACTAAGAAAACACTGGTTAGTCCATCACAGAAGAAGGGATGGGGATGGGGGACTTTATTCCCACCACCTGTCAAGGGGTTGGCTTCCCAAAGTTAAAGGGGCTGCTGGAGCTCTCATTCCGCATCTTCCAAGAGAGGAGATTGGCCTCAATAAACTTTCAGGTCTCTTTCAAGTCCGAAATTCTGTAAATCCAATTATGTTGGGACAGGAGCAGACAGAGGAGCTGGGTATGAGAGGAGGAAAGGTGGGCTGGCGAGATAGGGTAGAGGGAAGAGTGGGAAGCTGACTCCGAGATGGTGTCAGTTGTTTAGGCTGGGATTGCCTCAAGGGAGTCAGTTACAATCCAGACACTGACAGGGAACTGATCCTCCCAGATGGCAGGAGGACACCTACCTTCTCTGATTCTTTCTCTGTGGAATAGTGGGATGATTCTTCTGATTTTCCACTGTCCTTGGCTTTGGCTTCCTCTAGCAGAATTGTCATGGCTTTCATAGCTGCATCCTGCTTGGCCACTTTCTTGCTTCCAGCTTCAGCTGGGGGAAACTCTCGGCCATTGATGACAACCTGGAATTTAAATCTTGACGGAAAGTGATTAGATGTGTGAACAGGAGTCTAGGTCACTCCTTCTGCCTTCTCCAAAGAGACCTTCAACCTGGAATTTTCTGCTACGCTAAGGGGCTTTTCACTTGTGGAGATGAAGGGTAGGCCAAGGAACTCCTTCCTACTCCTTAAGGCTCAGCCTGTCCTTTCTTTTTGTAAACAAAGCAGCCAGTGACTCTTTCCCCATAGCTCAGTGAAGCAAACATAGGCACAGATGATAGGAAACTAGCTCAGGGGAAACCCACTATCTCTTTAACAATGAATTAAGATAAAACCCACACACACAAAAATGATGAGCCAAAAATTACCATTATAGTCTTGTGAGCAACCAAAAGACCTTCATTCTAAAGCAATTGTGGTAGACTGGCCTCCTCAAGGGAGGGTCCTAAAAGATAGTGAAGGCTTCTTATAACCCAGTCTCACACTCCCCACTACCTAGGGGGATCAGGCATCTGCCACTTATCAGTGGCCTGCTTTTGTCCCTAGACCTATATCACCGTAGTTTGTTATGAGTCACTCTATAGCACCATTTGTCTCCAGCTATTTTCTACATAACAAGGAATTTCCCCTTGTTATGTAGAAAATAAAAAAGCATTTGTTCTAGGCCTCTGGACTTAGCCTAGGCCCCCTTTGTTCAAGCTTTCAAATGTGGTGAGCTCTTTGCTCAGTCTGGGATTTCATTTAGAAAAGTAGGTCAAATTTCTTATTTCCTAGGTCTTCTGATATATTTGAACATGGCACCAATGTTTCTTTTAGTGTGAGTCCAAAGAATGACTAACCACAAAATCCACTGCTTTCCTCCAACTCTGGGGAGGAGGGATGGAGGCAAAAGAGAATGACGGCCATCCAGTCTCTACCCCAAACAATCCAGCTCTGGCCTTGCCAGCTTTTGGACAGACACAACTCCTTTTCTTAACCGCTCTCCTGAAATGCCAAATTGGTGTCATGAAGACAGTCAAGACAAGGAATAAGGGCCCTAGCCAGGAATCTACACCCCTAGAAACCAGGCTAGGTAAACATAAAGGTCAGTGGAATTCTCCCCCATCCTACTGGCTCTTTCCCTGGCTGCAGCTGCAGCCACTCAGCTTCAGTGGTTTTGCTCTCTGTTATGCCCTTCAGAAGCTCCTGTTTTCCTCAATCTGTCCACTGGCCTATTAGGACCTACAGTGCAGGGCCTGACCAGCTATCTGAGTGAGGTAAAGGCTGACTTCACAGCTCAGGAGTGGCAGCAAGTGCTAGCCTACCCATCTGTGCAGAGGAGGTTTATAAAATTAGAACCACCACCTTCAACAGGCAGGCAGCCGTGCACACGCTCCTCCATCCTTTCCCCCCAGGAGCTATGCAGAGGGGGGATTGTGGACCTGCTGCTGCTTAGCAGCACAACCCACCCCCACTGTGTATGCAGCCTGCCCCAACCCACCTGCTCCTGCACCTCTCTCAGAAAACGGCTTAGGGAGGAGGGGAAGGCCTACAGAAGGGAATTAAGTCTTCATTACCTCTGCCTTAGGAGGCAGGCATGATATTGATGCATGGAGATCAATCATGTTTTTCTTTTTTCTTTCTTTTTCCAAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAATCTCGGCTCACTACAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCACCACCACCCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTCACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGTCGTAAGCCACCGCCCCGGCCCCCAAGACCAATCATTTCTTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGACTACAGGTGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATATGCCTGCCTCGGCCTCAAAAAGTGCTGGGATT	TATTGTCTTCTAAGAGGCCGTGGAGACAGGGCTGGACTTGTTTCCCTCAACTCGCCCCTTCTGTCCTACACAGCTAAAGCACACCCTTGTTTTCCCTGGGTTACAGACCATCCCCAACTGGTGACACATGCATTAGCCAGGACTAGGACACTCACTTGGGCTCGTGAGGAGGTCCGGACTGGTCGACCAACTTGAATTCAGCAGCAAAGCCATGGGAGCGGGCGTACTCCAAAAGGCCACCCACAGGGTTGGTGTTCAGGTATCTCACGAGCTCGCCAATCTTCCTGACCTTGTTGGGCATCATGGATTCCAAGTTATCAAGTGACTCTGAGATCATACCTTCAGGCTAAAGGAGAATCCATCAAACAGAGGAGCCATAAACACTTCAGGAAATGTTGAGGGAGTCACTGGCAATCTTAAACCACTCAGTTGCTAAAAATGACCTGTATCTTTTGAGTAGGAAAACGCCCTACCTGGTTATCAGAAGCCATGGAGTTGGTCGCCTCCCCATGCAGGGCCTTCATGGCTTCCTCTGCGGCCATCTGCTTTGCCACTTTCTTGCTGGGAGCACTCACACTGGGGAAAGTTTGGGCTCCCACTGCAACACAGTATTGGAACCTGACAGGAGATGAAGCACGTAGAAGGATTAAAATGGTTTTGACTGAGGAGCCTGACCTAGCCTCTGCCAGGCTGCCATCCTCCACTACTGGTAATTTCCTTGAACACATCACCTCTGTGCAGTCACATCTCATGCAGTCACTTCTGCCTTGAACAGCCAGTGTCTCTTAGCCTGGCTGACCCCTTTCAACATTTAAGCATCAACCTAGTTTCACCTCTTCCAGGAACACTTCTCTTGAACATGTGAGTCTATAGACCCACAGGCAGAGAGCTTCTCAGGTCCTGTACCTTTCTGTCCCACCAACAGTGAGTGACCTCCAAGCCGTGAACCTCCCTAGTGCTTATAGAGGAGATAGAGGGTGGGCCAGGAATTCCCTTTGAATTCCTAATCCCTAATTGTCTGCCTCACAAGCAGCAACCAGGACCTCAGAGCCCTCCTTTCCCCATTTTGAAACAGGAGAAATTGGTCAATCTGCCATCCCTGAGGAGGCAAGGAAGAAAATGTGTCTCTTTTTCTTTCTGAGAAAACCTCAGCTGGACAGAGGACACGTAGGACATACTTGGGTTCATGGGCAGGGCCTTCTTTGGACAGGAGACGGAATTCGCAGGAGTTCCCCAATTTGTGCATACACTCAAGCAGTGTGGTGACGGGGCTCTTCCCAGAAAAGAAGGATGTGGCTGAAGGGGTGGGGGTCTGGGACTCTGCAGTCTAGAGAAAATGAGAGACAAGAAGAAAACAAAACTAAGAAAACACTGGTTAGTCCATCACAGAAGAAGGGATGGGGATGGGGGACTTTATTCCCACCACCTGTCAAGGGGTTGGCTTCCCAAAGTTAAAGGGGCTGCTGGAGCTCTCATTCCGCATCTTCCAAGAGAGGAGATTGGCCTCAATAAACTTTCAGGTCTCTTTCAAGTCCGAAATTCTGTAAATCCAATTATGTTGGGACAGGAGCAGACAGAGGAGCTGGGTATGAGAGGAGGAAAGGTGGGCTGGCGAGATAGGGTAGAGGGAAGAGTGGGAAGCTGACTCCGAGATGGTGTCAGTTGTTTAGGCTGGGATTGCCTCAAGGGAGTCAGTTACAATCCAGACACTGACAGGGAACTGATCCTCCCAGATGGCAGGAGGACACCTACCTTCTCTGATTCTTTCTCTGTGGAATAGTGGGATGATTCTTCTGATTTTCCACTGTCCTTGGCTTTGGCTTCCTCTAGCAGAATTGTCATGGCTTTCATAGCTGCATCCTGCTTGGCCACTTTCTTGCTTCCAGCTTCAGCTGGGGGAAACTCTCGGCCATTGATGACAACCTGGAATTTAAATCTTGACGGAAAGTGATTAGATGTGTGAACAGGAGTCTAGGTCACTCCTTCTGCCTTCTCCAAAGAGACCTTCAACCTGGAATTTTCTGCTACGCTAAGGGGCTTTTCACTTGTGGAGGAGATGAAGGGTAGGCCAAGGAACTCCTTCCTACTCCTTAAGGCTCAGCCTGTCCTTTCTTTTTGTAAACAAAGCAGCCAGTGACTCTTTCCCCATAGCTCAGTGAAGCAAACATAGGCACAGATGATAGGAAACTAGCTCAGGGGAAACCCACTATCTCTTTAACAATGAATTAAGATAAAACCCACACACACAAAAATGATGAGCCAAAAATTACCATTATAGTCTTGTGAGCAACCAAAAGACCTTCATTCTAAAGCAATTGTGGTAGACTGGCCTCCTCAAGGGAGGGTCCTAAAAGATAGTGAAGGCTTCTTATAACCCAGTCTCACACTCCCCACTACCTAGGGGGATCAGGCATCTGCCACTTATCAGTGGCCTGCTTTTGTCCCTAGACCTATATCACCGTAGTTTGTTATGAGTCACTCTATAGCACCATTTGTCTCCAGCTATTTTCTACATAACAAGGAATTTCCCCTTGTTATGTAGAAAATAAAAAAGCATTTGTTCTAGGCCTCTGGACTTAGCCTAGGCCCCCTTTGTTCAAGCTTTCAAATGTGGTGAGCTCTTTGCTCAGTCTGGGATTTCATTTAGAAAAGTAGGTCAAATTTCTTATTTCCTAGGTCTTCTGATATATTTGAACATGGCACCAATGTTTCTTTTAGTGTGAGTCCAAAGAATGACTAACCACAAAATCCACTGCTTTCCTCCAACTCTGGGGAGGAGGGATGGAGGCAAAAGAGAATGACGGCCATCCAGTCTCTACCCCAAACAATCCAGCTCTGGCCTTGCCAGCTTTTGGACAGACACAACTCCTTTTCTTAACCGCTCTCCTGAAATGCCAAATTGGTGTCATGAAGACAGTCAAGACAAGGAATAAGGGCCCTAGCCAGGAATCTACACCCCTAGAAACCAGGCTAGGTAAACATAAAGGTCAGTGGAATTCTCCCCCATCCTACTGGCTCTTTCCCTGGCTGCAGCTGCAGCCACTCAGCTTCAGTGGTTTTGCTCTCTGTTATGCCCTTCAGAAGCTCCTGTTTTCCTCAATCTGTCCACTGGCCTATTAGGACCTACAGTGCAGGGCCTGACCAGCTATCTGAGTGAGGTAAAGGCTGACTTCACAGCTCAGGAGTGGCAGCAAGTGCTAGCCTACCCATCTGTGCAGAGGAGGTTTATAAAATTAGAACCACCACCTTCAACAGGCAGGCAGCCGTGCACACGCTCCTCCATCCTTTCCCCCCAGGAGCTATGCAGAGGGGGGATTGTGGACCTGCTGCTGCTTAGCAGCACAACCCACCCCCACTGTGTATGCAGCCTGCCCCAACCCACCTGCTCCTGCACCTCTCTCAGAAAACGGCTTAGGGAGGAGGGGAAGGCCTACAGAAGGGAATTAAGTCTTCATTACCTCTGCCTTAGGAGGCAGGCATGATATTGATGCATGGAGATCAATCATGTTTTTCTTTTTTCTTTCTTTTTCCAAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCAATCTCGGCTCACTACAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAAGCACCACCACCCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAATTCCTCACCTCATGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGTCGTAAGCCACCGCCCCGGCCCCCAAGACCAATCATTTCTTTCTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGACTACAGGTGCACGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCGTGATATGCCTGCCTCGGCCTCAAAAAGTGCTGGG	benign	15,287
A mutation at chromosome position 154607872 on chromosome 1 in gene ADAR (adenosine deaminase RNA specific): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	benign	CTCCTATTAGCTCTTTGAGTGACCTTGGGAAAAAAAAATTGTGTTTCAAAGTGGCTAGAGTCAGTTAAAAGCTAAATGTTTTTTAAACTGCTACTCTTGGCCCAAATCTGGAAAATATTTTAATGTCTGTCTATAGAAGAATTAAATTATGAAACATTCATTCTATGGAATAGTACTCACACGGTTATTTTTTTTCTTGTGAGACGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCAGGCTGGAGTGCAGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGATGGTGTCGATCTCCTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCAGTTATTTTATTTTTTTAAAATGTGTCATATCTATTTGTATTCACCTGGGGATAATTTAGGAATCATATAATGTTCAATAAAACAACAAAAAGTTGTAGAATAGTATGTACATTATAATTTTTTTCCCTAAACAAAAAGAGAAAATCCATGAATGTGTATGTGTGCGCACAATGGAATGAACACAGAGAAAAGAAAGGAGATGTAAGTTTGCTAAGGATATCTTAGGGCAGTAGGGTTAGAGGGAGAGGAGGAGATTATTAATCTTTCTTTTTGCCCCCCTTAAATCCCCTAAACACCAAGCCACCGTTGAGTACAGCCATTTGGAAAGCTACGGAATAGGAGAGCAAGAAAGTGAGCAAGCAACCCACAGTGATCCTTTCTAAATCTCTCAGCATCACCTCTATGCAAATTACATAACAACTCATTTAACATTCATTGCCTCCCAGATTTCACTTTAATCTGGTCTCACATATTTAGGATCAAGAGATAAGCACTACCCCCTTTGCCTTTACCACACAGGTTCCACAGTGCAATACACTGACACCTGTGCAGAAATGCTTTTCCTTCAAGTTAGGCGTCCTTAATCCTTTCAAAGGAGTGCTTAAAAAAAAAAAAATATATATATATCTTAACAAAATTGAGGTATATAATTTAGATACAGTAAAATTTATCCTTTTAAGTGTATAAATCTATGAATTTCGACAATCGCCACCACAATCAAGATATAGAACATTTCTATTTCCCTAAAAAGCTTTTTCATGCCACTCAACAATCAATTTCTTCCACGATACCCAGTCCCTGGCACCCACGGATCCACTTTCCATCCCTATAACTGTGGTTTTTTTTTTCCAGAATGTCATATAAATGGACTCATACAGTATGCAGCCTTTTGAGTCTGGCTTCTCGTGCTTAGCATAACGCACTTGCGAGTCACCCGTGTTGTTACTTGTAACAGTATTTCCTCTTCACTACTAAGCAGTATCCCATTATGTGGATGTATTTCAGTTTATCTGTTAACCTGCTGAAGGCCATTTGTGTTTTCCCAGTTTTTAGCTATAAAGTGGTTAACAAGCTTTCTCCTACAGCTTAAGTGCCATTTTTAACTCCCAGAAGGCCTTCAGGAGGTGGATAAGGTGAGCTGAGGATAGTGTGCGCTGCTCAAAGTCCGAACGTTGTTCAAGTGGGGCTAAAGCGGGGGTAGGGGGTTCCACAAGGGGCCCTAGCAGAAAGGGAGACGATGTGTCTGCCTTGACATGGGCTCAGGCCTTCCTACTCAGACGGGGGCGCATTTTCCCCCAAGCCCTCTTCACGCACTGCTCCATTCTGCAGAATTAATGAGCAGGATACAAATTCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACTACACACACACGCACACACACACACACACACTCTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACCCACACACACACACTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACACACACACTCTAACACTCACAAGACGCACACGCTACGCACTGCAACACAAAGCCTGTGAGGTTGTAAACGAACCCAGACGGCGGCGAAGGTCCAAGGCCGGCCCGGCTTACCTGCCGCGGATTCATTGCGCCCGCGAGGCATTGCCCGGCCCGACCCGCCGGCGGCACGACCCTGGCCCGACCGCTGGGCCGCGCCAGCCCCTCGAGGCCCCCACGCCTCCGCTACTCCGCACTGGAAGTGGCCCCGGGGCGTCGGCACGGGAAACTCCGCGGGTCTGCGCGCCGGGCCCAAGATGGCTCCGGTTCAATTTCGCTTTCGTTTCCTCGGAAAGCCTTCCCCTCCGGAAAGTTTGGCCAAGAGGAGGGGCTTGAGCAAATCTTGCGCCACGCTTGGTTTCAGGCCGGTTACAAGTCGAACCCCTCCGCTGCATGAGAACTACGGAAGGTACTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTACGGAGTAGCTGGGATTACAGGCGAGCGCCATCACTCCTGGCTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAAGAACAGGGTTTCACCACGTTAGCCAGGGTGGTCTCGAACTCCCGGCTTCAAGAGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTCAGCCCCCGCGCCCGTCCGGTACTGTTTAGGAAAACCGCCGTTTCAGTACTGAGCTCCTAATTCCCCGCACAGGCCGTAGGCAGGAATACACGAATAGAGCAAAAGGAAAACAAAGGCACACAAAACCTCAGGCCAGAAACAGCATGACGCCCGGTCCTCCCTCTCTCCGCGCCAGCGCGGTGGTGGCCGCGTCTCCAATGTGGAGGGGGGGGGGAGGGGATGGGCGGGAGCGCAGATCTCGTCAAACGACCAAGGTCCCCACCGTGGGACCTTGTTAATGCTCCTACTATGTTATAAACTTAAGCAAGCAGATGCCAGCCAGTAAAAAGTACCAAGAGTAGCAACAGCAGCAGTGAACAATTTAGGATCTAGGTCATAAAAACTACCCCACCAGGCAAATGGTTAAGTACTTTACATGTATTATCTCCCTTAATCTTCACAACAGCCCTCCAAGGTAGGCATTATTCCCACTTTGCAGGTGTAGAAACCGAGGCTTGACTAAGGCCACGCTGCTGCCAAATCCAGGTCTGAAGGCTTTAGTAAAGCTCAGTCTTCAGCGCTTCTCTACACTCATTCAAATTACACCATTACTTTCAAAAAGATAACTTTTGTTATCTAGAGGGACAAAAGTCAAATTTGCTTCATGGTCAGGCTTCTCTAACTGCTGGATTTTTGTTCAAGGTATCTGGGAAACGATTATTCTAGGGTTCAACACCATCCTCACCTGTGAGAATGTTCTTTCCCTGTGTTTAATCTTAATTTTACCCCCATGCTTATGAAATTACAAGGCAGTCCCTTTATAGCAGTATCTCCAGCTGATGCCCTTTCATGGTGTTAGTCACTCCAAATTAACATTCCCTTGCAGGCTGGGCTCTGTCTTCCTTCTGGGCCTTTGCACATTCTATTCGTTGGCCTAGCATGCACCTCCTCCACGGCTTCCCGTGAATCAACCTTTCAAATTTACAAGGGAGGCCTTCCCCACAGCAGGTAGGGGGAGAGGAGGGGGAGCAGGTGCTGTTTGTGGTTTCCTACTCCATGCTTCTCGAGTTACTGGGCGCCTACCCCTAATAGGGCACTTGCACACTGCGCTAAAAACGCCCCATTCGATCATTTAACAAAACTTTACTAAGCACCTAATTATGTGGCAGATACTGTGTTAAGCACCCAGGATATGACACAAATAAGAGCGCCATCCTTTAGCTAGTCTGCTAGGGAAGATGGATGCCTCAGTAATCACAATTATCATGTACTTCTTGTTCATATATCTGCCTCTAGAATTGTCAAGTCATCTCCTC	CTCCTATTAGCTCTTTGAGTGACCTTGGGAAAAAAAAATTGTGTTTCAAAGTGGCTAGAGTCAGTTAAAAGCTAAATGTTTTTTAAACTGCTACTCTTGGCCCAAATCTGGAAAATATTTTAATGTCTGTCTATAGAAGAATTAAATTATGAAACATTCATTCTATGGAATAGTACTCACACGGTTATTTTTTTTCTTGTGAGACGGAGTCTCGCTCTGTTGCCAAGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAATCAGGCTGGAGTGCAGTGTGATCTCAGCTCACTGCAATCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCGCACGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGATGGTGTCGATCTCCTGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCACGCCCGGCCAGTTATTTTATTTTTTTAAAATGTGTCATATCTATTTGTATTCACCTGGGGATAATTTAGGAATCATATAATGTTCAATAAAACAACAAAAAGTTGTAGAATAGTATGTACATTATAATTTTTTTCCCTAAACAAAAAGAGAAAATCCATGAATGTGTATGTGTGCGCACAATGGAATGAACACAGAGAAAAGAAAGGAGATGTAAGTTTGCTAAGGATATCTTAGGGCAGTAGGGTTAGAGGGAGAGGAGGAGATTATTAATCTTTCTTTTTGCCCCCCTTAAATCCCCTAAACACCAAGCCACCGTTGAGTACAGCCATTTGGAAAGCTACGGAATAGGAGAGCAAGAAAGTGAGCAAGCAACCCACAGTGATCCTTTCTAAATCTCTCAGCATCACCTCTATGCAAATTACATAACAACTCATTTAACATTCATTGCCTCCCAGATTTCACTTTAATCTGGTCTCACATATTTAGGATCAAGAGATAAGCACTACCCCCTTTGCCTTTACCACACAGGTTCCACAGTGCAATACACTGACACCTGTGCAGAAATGCTTTTCCTTCAAGTTAGGCGTCCTTAATCCTTTCAAAGGAGTGCTTAAAAAAAAAAAAATATATATATATCTTAACAAAATTGAGGTATATAATTTAGATACAGTAAAATTTATCCTTTTAAGTGTATAAATCTATGAATTTCGACAATCGCCACCACAATCAAGATATAGAACATTTCTATTTCCCTAAAAAGCTTTTTCATGCCACTCAACAATCAATTTCTTCCACGATACCCAGTCCCTGGCACCCACGGATCCACTTTCCATCCCTATAACTGTGGTTTTTTTTTTCCAGAATGTCATATAAATGGACTCATACAGTATGCAGCCTTTTGAGTCTGGCTTCTCGTGCTTAGCATAACGCACTTGCGAGTCACCCGTGTTGTTACTTGTAACAGTATTTCCTCTTCACTACTAAGCAGTATCCCATTATGTGGATGTATTTCAGTTTATCTGTTAACCTGCTGAAGGCCATTTGTGTTTTCCCAGTTTTTAGCTATAAAGTGGTTAACAAGCTTTCTCCTACAGCTTAAGTGCCATTTTTAACTCCCAGAAGGCCTTCAGGAGGTGGATAAGGTGAGCTGAGGATAGTGTGCGCTGCTCAAAGTCCGAACGTTGTTCAAGTGGGGCTAAAGCGGGGGTAGGGGGTTCCACAAGGGGCCCTAGCAGAAAGGGAGACGATGTGTCTGCCTTGACATGGGCTCAGGCCTTCCTACTCAGACGGGGGCGCATTTTCCCCCAAGCCCTCTTCACGCACTGCTCCATTCTGCAGAATTAATGAGCAGGATACAAATTCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACTACACACACACGCACACACACACACACACACTCTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACCCACACACACACACTCACAAGACGCACAAATTCCTAAACCAGCAATGCTGCTTGGCAAGACGACACACACACACACACACTCTAACACTCACAAGACGCACACGCTACGCACTGCAACACAAAGCCTGTGAGGTTGTAAACGAACCCAGACGGCGGCGAAGGTCCAAGGCCGGCCCGGCTTACCTGCCGCGGATTCATTGCGCCCGCGAGGCATTGCCCGGCCCGACCCGCCGGCGGCACGACCCTGGCCCGACCGCTGGGCCGCGCCAGCCCCTCGAGGCCCCCACGCCTCCGCTACTCCGCACTGGAAGTGGCCCCGGGGCGTCGGCACGGGAAACTCCGCGGGTCTGCGCGCCGGGCCCAAGATGGCTCCGGTTCAATTTCGCTTTCGTTTCCTCGGAAAGCCTTCCCCTCCGGAAAGTTTGGCCAAGAGGAGGGGCTTGAGCAAATCTTGCGCCACGCTTGGTTTCAGGCCGGTTACAAGTCGAACCCCTCCGCTGCATGAGAACTACGGAAGGTACTTTTTTTTTTTTTTTTGAGGCGGAGTCTCGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTACGGAGTAGCTGGGATTACAGGCGAGCGCCATCACTCCTGGCTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAAGAACAGGGTTTCACCACGTTAGCCAGGGTGGTCTCGAACTCCCGGCTTCAAGAGATCCGCCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTCAGCCCCCGCGCCCGTCCGGTACTGTTTAGGAAAACCGCCGTTTCAGTACTGAGCTCCTAATTCCCCGCACAGGCCGTAGGCAGGAATACACGAATAGAGCAAAAGGAAAACAAAGGCACACAAAACCTCAGGCCAGAAACAGCATGACGCCCGGTCCTCCCTCTCTCCGCGCCAGCGCGGTGGTGGCCGCGTCTCCAATGTGGAGGGGGGGGGGAGGGGATGGGCGGGAGCGCAGATCTCGTCAAACGACCAAGGTCCCCACCGTGGGACCTTGTTAATGCTCCTACTATGTTATAAACTTAAGCAAGCAGATGCCAGCCAGTAAAAAGTACCAAGAGTAGCAACAGCAGCAGTGAACAATTTAGGATCTAGGTCATAAAAACTACCCCACCAGGCAAATGGTTAAGTACTTTACATGTATTATCTCCCTTAATCTTCACAACAGCCCTCCAAGGTAGGCATTATTCCCACTTTGCAGGTGTAGAAACCGAGGCTTGACTAAGGCCACGCTGCTGCCAAATCCAGGTCTGAAGGCTTTAGTAAAGCTCAGTCTTCAGCGCTTCTCTACACTCATTCAAATTACACCATTACTTTCAAAAAGATAACTTTTGTTATCTAGAGGGACAAAAGTCAAATTTGCTTCATGGTCAGGCTTCTCTAACTGCTGGATTTTTGTTCAAGGTATCTGGGAAACGATTATTCTAGGGTTCAACACCATCCTCACCTGTGAGAATGTTCTTTCCCTGTGTTTAATCTTAATTTTACCCCCATGCTTATGAAATTACAAGGCAGTCCCTTTATAGCAGTATCTCCAGCTGATGCCCTTTCATGGTGTTAGTCACTCCAAATTAACATTCCCTTGCAGGCTGGGCTCTGTCTTCCTTCTGGGCCTTTGCACATTCTATTCGTTGGCCTAGCATGCACCTCCTCCACGGCTTCCCGTGAATCAACCTTTCAAATTTACAAGGGAGGCCTTCCCCACAGCAGGTAGGGGGAGAGGAGGGGGAGCAGGTGCTGTTTGTGGTTTCCTACTCCATGCTTCTCGAGTTACTGGGCGCCTACCCCTAATAGGGCACTTGCACACTGCGCTAAAAACGCCCCATTCGATCATTTAACAAAACTTTACTAAGCACCTAATTATGTGGCAGATACTGTGTTAAGCACCCAGGATATGACACAAATAAGAGCGCCATCCTTTAGCTAGTCTGCTAGGGAAGATGGATGCCTCAGTAATCACAATTATCATGTACTTCTTGTTCATATATCTGCCTCTAGAATTGTCAAGTCATCTCC	benign	15,303
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	benign	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATG	benign	15,311
Regarding the variant found on chromosome 1 at position 154869723 in gene KCNN3 (potassium calcium-activated channel subfamily N member 3): is it benign or pathogenic? If pathogenic, identify the disease(s).	benign	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGT	benign	15,314
Evaluate if the mutation on chromosome 1 at position 154869723 in KCNN3 (potassium calcium-activated channel subfamily N member 3) is benign or pathogenic. Disease name(s) if pathogenic?	benign	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNN	benign	15,315
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	benign	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNNNNNNNN	benign	15,316
Is the genetic mutation found on chromosome 1 at position 154869723, within the gene KCNN3 (potassium calcium-activated channel subfamily N member 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	benign	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNNNNNNNNNNN	benign	15,317
Does the variant on chromosome 1 at location 154869723 affecting gene KCNN3 (potassium calcium-activated channel subfamily N member 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	benign	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACA	ACAGCTGAACCCCTCCCAGCTACCCGATGGCCAGCCCGCCCAGCCACCCCCCCACCAAGCCACCCCCTGCCCCAAATGACAAATAAATAGAAAAACCCAAGCAACAAGCAGGCGCATGCATACGTACAAACATTACGCACATACACACACACACACCAACAAATTGGGGGTGGGGGTATCGTGGAGCCACTTGTCCACCGATTCCCAGGTCTCCAAGCCTTCCAGCCCACAGCAGGAGAGCTCCCCGGCAAGCAGAGCATCGGCAGAAACCCACCTTCCTCCATCTCCACTCCCTCTGGGAGGGAAACCCCCTCCTCCGTCTTGGGGCTGGACTGAGAGGCTGGAGCAGTGGGGCCAGCTCCCCGCTAAAGCCAGTGCCTGCTGTTCTCCATCCGGGCGCGCACTCACACACACACTCATCTTTATTTATCCCAAGGAGGAGTTGAGGTGGGAGGGGAGAACTGGGGCTGAGCTGGGGCGCGGGCTTGTGGGGACCGCCTGGGAAGCCCTGTCATCCCGTCCCAAGGAGAGGTGCTCCCCCAGCTGATTCCAAGGCGGCGCCCAGCTGCTCTGCCCAGGTAACACCTGTAGCCATTTTTATCAGGAGATGTTTACGAAGCAGCAGCAGGTTTATTCTGAGTCCTCTCTCCTGAGGGAAAGGACCACTGATTTCCTCCACCTATATTTTTACCCCATGCCCTCAGGAGACCCAGGTCATGGATGGTTTTCTATTTTGCCCGAGACTCTCTGAGAAGAGGAGGGAAACAGAAACTTGGGAAGAGATGGAGAAGACAGGGAGAGAAGGGACTTGGGCAATGGTACGGAATCCCCACCCCCCACCCAGACATTTATTTCTTTTTTATCCTCAGGAAAATGGAGTGGAGCAGGGAGGGGAGGAAAGAAGGGGAAGTCGCAGGAACTGGCAAACACATGAAGGCGGAGTGTAATTAATTGGTGCGTTAAGCTGCTGGGTTATGCTTTAGTACGAGTGAGCCAGGAGGAAAAGCGATTTCTCAGAAGGGATTATTGAATCCTCCCTAACAGAGAGTCTGCAAATTAGACACAGTGTGTGGGGATGTCCCCTACCCCCCAGAGGAAGCTAGGAATGAATTCTCCCGGGATCAAGAAGGAAAACCACGGGAAGTTAGAGTGTTGAATATAACTGAGCAAGCGCCTCTCACCACCACCACCACCTCTCTCTCCCAGTCTCCCTCCCAATCTCTCAATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATCTCTCTCTCTCACAATCCCCCTCTCTCAATCCCTCTCTTGCTACCTACATATTCCTTTTGTTCAAGGTATAAAGAGAAACCACAGCCCCTACCTTTGAGTACAAACCCCAAGAGAGCTCGGTCTCTATCACCATAACAACAATTCCAAACATCCCAAAAATCAGAGCATAGTCACTCAGTCGCTTTCTCTTTTCAAACAGGGCCCTCCTGTGTCCCAGCTTATAGCCAATGTTTTGGTTTTTCCGCTTGTTGGCTTTGGGGAAGGTGGTGCTGCTGGCGGTGGTGCCGGCATGCTGGTGGTTGTGGGTGGCATTAGGGTGATGGAGCAGGGTCTGGTGGGCATGGTTGTCCTCCCGGGAGGAGATGACGATCTCCGGGGGGTTGCTAGGGCTGAAAAGCTGGAGGGGTTGGCCCTCAGTCTCGGCCTCGATGAGGTTCCTCCGGGAGGCGCTGAGGCGGCTGAGGGGCTTCATGACCCCACCGCTATACTTGCAGGAGCTCATGGCGATCTCCGTGAAGGGGTTGCTGTCCCGCCGGTGCACCAGGGGGCTGGCCTGTCGGTGCCGGCTGCCTCCGCCAGGCCCACTTGTAGCTGTGGAACTTGGAGAGTGGCCAAGCAAGTGGTCATTGAGATTGAGCTGGCTGCCTTGCCTGGAGGAAGGGTGGAGGATGGCGGTGGAGTTGGACGAAGGGGGGGCCCTGAAAGCGGTGGGAGAGGAGTGCAGCAGGCCAGGGTGGACGGGCTGGCTCTGGAGTTGGGCGAGCTGAGACAGGGGATGCGGTGGCTGCTGCTGCTGCTGAAGCTGCGGAGGCTGAGGCTGCAGCGAGGGTCCCAGGGGCTGCTGGGGGGCTGCTGGTGGCGCTGGCGGTGGTGGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTCATCCCCAGAGGATGGACAGGGGCACTTGGGGTCTTCATCCAAGTCCCCCACCCCCGAGTCATGGAAGTGCCCAGAAGTGTCCATCTTGGGGCCTGGCTGTATTCCCTGCAGCACAAGCCCCCACCCCAAAGCCACCCTCGCTCCAAAGATGTCCTCAAAGAAAGCCAGGCATCCAATCTCCCCCACCAGTATCTTGGCTCCAGTCCTCTCTTTGGCTTGCTTCGGTTCTCTGGGGCTGCCTGGAGTCCAGACGCTGCCACTCAAGAATGCATTGTATTGGGCAGGGAGGGAGAGCAGGAGGGGAGCTTGGAGAAAGAAGAGGGGGTGAAAGAACTCTCTCAGGAGGTGGTCCTCTAGGAGCGTGTGAGGCCAGGCTCAGCTTCACTCCTCGCTGGCTCAATAGCTTCGCTCGCCTCCTCCTGCCACTGTTACATTGTAAGCCAAGCCCACTTATTAGCAGCTGGTCTCATTGGCTTGGCTTAACTCTCCAACCTCCTCCTAGCTCCGCCCCCCGCATAGGCTCCTCCCCAGAGGAGGGGCCTGGCGTCCTGGGCTCCGGCCCCAGTGGCGGCGCAGCGAGGACTGGGAACTGTAGTTTTTGCTCCCCCACCCCGGAGCTGAGCCGCTGTCCTCTTTCCTCTGACAGGTATGGCCACAACCCTTAAGCCCACGGCGATAAGGGATGTTCGCTCACGCTGGGCGATGGGGAGGAGGGACAGAGGGCCTCCGAAGGAGGGGAGGTGTGCACCCTGATGAGGGGGCAGACGGAGGGGAAGGCAAACATTTATTAACCACCAGGGTTTACGATAGGTTGTTTCACATATATTATCCGGATACAGTCTCCAAACACCCAAGGAGGTGGGCAGTATGGTCTCATTTACAAAGCCTGATGCTTAGAGGTGTTGAGTAACAACGTCAAGGTCACAGAAGCAGGGGGGATCCACACCTTCTAACACCCGGTGGATAAACTCACCTACCATTGACTGAGTGCCTACGCCTCGTGTTCAGGGTCCTCTCTGTTATTTCCAACCCTCACATCAACCCCACAAAAATGATGTCATCACTCTCCTTTTACAGATGAAAATTGGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGAAGGAGAGAAAGGAAAGTGGAAAAAACACTCAAACGCTCAAACATAGATATGTAACTTGTCAGATGTCATCCCGCTTGTAATTAAAGATGCTGGGATTTGAACTTAGTCAGTCTGACCCCACAGATCAGATACTTTCTCCCAGGATGCATTTCCACTATGATATTCAGTACAAAGTGGTTGTTCAATAAATATTGTTCAAATGTTAGTTGGGGAAAACAAAAGAGAAGCTGCTGAGGAAGAACTGGCCTCTCCAAAGCAGGGTGTGTGAAGTGGACCATGGCTCCAGCCCCTTCCCTAACAGCTGGGTGTGTAGTCACAGGGGGATCTGGCAGGAAGACTGAAGATTCCCCCATGGTCATTCCCTGCCTGATTTGCCCCATGGGGCTCTGAGAGTCAGAACTAGGAACAGCTGCTGGCTTCCCAGGTTCAGAACCATCATCATCAAGTATTTATTAAGCCCCCACTGTGTGCAGAGGGGGTTCCAAAGGATGGGACCAGAGCTGAATTCATTTTCATTTCTAACCACAGCAGCCTTAGGAATCAGAAAGGAAGTCACCATGAGGGAATTCCCCAGAACACCTGGGGTTTTAAAAGGCAGGCCTCTTCCTCTCTGGCTCTTGATTCCCCATCACCCTTTGGCCTCTGTCCAGCTCCCTCCCTCGATGGGAAGAGGAAAGGGTAGGAGATCCATGCACACATACACAGACACACATCCAGAAAACATGTAAGCAGGTGGACATATGTGCACATGTGTACATGGTTGTGTGCACANNNNNNNNNNNNNNNNNNNNNNNNNNN	benign	15,318
A genetic variant on chromosome 1, position 154984085, affects the gene FLAD1 (flavin adenine dinucleotide synthetase 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	benign	AGAGTAAAATTTGGCAAGGTGTGGTTTACCAGTCCTACAAAGAATGAATTCGGCCCGGCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAAAAATGAAAATAAAAAAATTTTTAAAAAAAAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCGTCTCAAAAAAACAAAGAATGAATTCGGGCCCTTACCATTCAAAATGTAGTCCATAGAGCAGTGGGATCACCATCACATGGGAACTAGCTAAATGCAGATCTCAGGCCCCACCCAAACCTACTGAATCAATCTGCATATGAAAAGATCCCCAGATTATTGTTGGAAAAAAGTTTAAGATGTACTTTTAGAACAAAGGCAACTGAAATGGGGGTAAGCTCGGATGATGTGAGGATCCAGAGTAAACATGTAAGGCACTCCCTATTCGCTGCCTCATTTGCACCTACAAGACCAATTACTGGGAAAGGTCATTTGAACTAAGCACCATCTGGAGCAAGGTGGAGGAAGAGAGGGTTTTTGGACTCTTTCTTGTCAAAGAGATTTAAGTAATTCGTTTTGTCTACTATACTAGAGATAAATTAAGGTTCCACACATCAAAAGCTCACCTACTCCAGGGTCTTCATATCCGACAGACAGTGGTAATAATCTTTCTCGGTGTCCCTCCAACTTCCTTCTGCTATAAATAAGATGCTTTCTCACTCCAGTAAAAGCCCTTAGCCTAGTGTTAGAGTCACGGTGAATGAAAACAGCTTAAACCATGGCTAACTGACCCATTAAACAAAACAAAACAAAGCAACACATGCATAACAATTATTTGAATCCAGCACCAGAAACTCCCCGAGGGCCTTACAGCACCTTTAACTACGGCTCCTTTCCCGCCCTAAACTCCCGAGGTCCCGCCCCCGACCGTGGGCTAAGGTCCGGCCCCCGTATTTCCGGGCGAGAAGTGACCACGTGGTTGTCGCCTATAACAATCCGGCCCTGCTCCCATCCACTGGCTAAAGCCTGAGAGCGACAGTTGAATACACCAATGGGACCCTGGAAGAGTCTAAGCGACAGCCAAAATCACCATTCAATGTCAGCTAGGTGCAAGGCGGGACTTTAAGTACGGAAGCTGCCCCGGGACATGAGGAAAGGAACAAGGGAAAGAGCCGGTGAAGGGGCAGAACAGGCAGGTGAGAGTCTAAGAGGGCTCAGTAATCTGAAGCTTGGTGGGAAGAAGGGATTCTGGGCTAGAAAGGGTGCAGAAGCCTGAAGTAGAAAGAGACGGGATTTTGGTCCGGGGTGGAGAGCGAATGCATTGAAAAGGGCCAAGGCCCAGGATAAGGTAGACATTTAAAGGGGTACGGATGCCCAAGGTAGAGCAGACACTTGAGGAGACCAGCTCAGCAAACGGAAGACACTTAAAGTGGTAGGTTCTCAAGAGAGAAGAAGTTTTTAAGACTAGAGCTAAGCAAGACATTTAAAAGGACATGGGTTGGGATTTGGGAACACGTTTATTCCAGAGGCAGGAACAAAGGAGTCGCTTGTCAAGGATCTGGTTAGAGAAGACTAGGGTCTTCCTCGAAGGAAGCACGCGCACGCCTGCTCTCCCCCATTGTCTTTTCTGGCTTCTCCAGGTTCCCTCGACCCAGGACCCCCTGTTCCCAGGCTATGGCCCCCAGTGCCCTGTAGACCTGGCAGGCCCCCCGTGCTTGCGACCCCTATTTGGGGGTCTGGGTGGCTACTGGAGGGCCTTGCAGAGGGGCAGAGAAGGCAGGACCATGACATCTAGGGCCTCTGAACTTTCTCCGGGGCGCAGCGTGACGGCTGGCATCATCATTGTTGGAGATGAGATCCTTAAGGTGTGTCTGGGACAGAAAAGGGGGGAGGGCGCTGCGTTCTCCTGTCCTTAAGGGCCTGCTGCACATCCCTCCATGGAAGGAGGTGAAACAGGGTGGGAGCCTCTTTGCTGCAGTAGGATCCTGGAGTGAATCCAGCATATTGGAGGAAAATTAACCCTCATTCTTTCAATTACTCTACTGAAAAACTTGTAGCAAAGTCCCTACAATTTTTCAACCTGAGAGAGCTGATTGAAAAAAAGAAAAATAAAAAGGTCATTGCAATTTACCAAGCAGTATGGTAGAGGGCAGAGGAGCTACACAACAATGACAGGAAGCCCCTCGAGTAGAGGAGGTACAGGTGTGTGTATTGTATATTTAAGAGTTTTGGCCGGGTGCGGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGTTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGTTTTACCCAGCCTTTTTGGAAATGACTCAAGGTACTCAGCGTAGTGGATAAGTGAGCTAGAAGGAAGGTACTAGAAGGGATGAATCCCCTCCGAATGATCAGGAAAGTCTTACTAGAGGACATAACAGATGACACGGGTTTTTTTGTTTTTGAGACAAGATTTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCACAGCTCACTGAAGCCTCCATCTTCCAGGCTCAAGCAGTCCTCCTGCCTCAGCATCTGGAGTTGCTGTGACTACAGGTGTTAGCCGCCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAAACGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACACCTTGCTGGGATTATAGGCATGAACCACTGAGCTTGGCCAAATGTCAAGTTTTAATAATAATCTTTTTTAATATTCTTTGTAAATTTGTGTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTAGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCATTGGTGGGATCTCAGCTGACTGCACCTCCACCTCTCGCGTTCAAGCAGTTCTCATGCCTCAGCCACCCGAGTAGTTGGGATTACAGGCATGAGCCACTGCACTCAGCCTTAATAGACCCTTTTTTTTTTTTTAGACAGAGTCTTGTTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCAATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACCTCACCTGGCCCTGACCCCAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACCGTAACCTCCGCCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAAGCATGGGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGAGGCATGAGCCACTGCGCCCGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACGGAGTTTCGCTCCTGCTGCTCACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTA	AGAGTAAAATTTGGCAAGGTGTGGTTTACCAGTCCTACAAAGAATGAATTCGGCCCGGCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATGCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAAAAAATGAAAATAAAAAAATTTTTAAAAAAAAGCCGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGGGAGACTCCGTCTCAAAAAAACAAAGAATGAATTCGGGCCCTTACCATTCAAAATGTAGTCCATAGAGCAGTGGGATCACCATCACATGGGAACTAGCTAAATGCAGATCTCAGGCCCCACCCAAACCTACTGAATCAATCTGCATATGAAAAGATCCCCAGATTATTGTTGGAAAAAAGTTTAAGATGTACTTTTAGAACAAAGGCAACTGAAATGGGGGTAAGCTCGGATGATGTGAGGATCCAGAGTAAACATGTAAGGCACTCCCTATTCGCTGCCTCATTTGCACCTACAAGACCAATTACTGGGAAAGGTCATTTGAACTAAGCACCATCTGGAGCAAGGTGGAGGAAGAGAGGGTTTTTGGACTCTTTCTTGTCAAAGAGATTTAAGTAATTCGTTTTGTCTACTATACTAGAGATAAATTAAGGTTCCACACATCAAAAGCTCACCTACTCCAGGGTCTTCATATCCGACAGACAGTGGTAATAATCTTTCTCGGTGTCCCTCCAACTTCCTTCTGCTATAAATAAGATGCTTTCTCACTCCAGTAAAAGCCCTTAGCCTAGTGTTAGAGTCACGGTGAATGAAAACAGCTTAAACCATGGCTAACTGACCCATTAAACAAAACAAAACAAAGCAACACATGCATAACAATTATTTGAATCCAGCACCAGAAACTCCCCGAGGGCCTTACAGCACCTTTAACTACGGCTCCTTTCCCGCCCTAAACTCCCGAGGTCCCGCCCCCGACCGTGGGCTAAGGTCCGGCCCCCGTATTTCCGGGCGAGAAGTGACCACGTGGTTGTCGCCTATAACAATCCGGCCCTGCTCCCATCCACTGGCTAAAGCCTGAGAGCGACAGTTGAATACACCAATGGGACCCTGGAAGAGTCTAAGCGACAGCCAAAATCACCATTCAATGTCAGCTAGGTGCAAGGCGGGACTTTAAGTACGGAAGCTGCCCCGGGACATGAGGAAAGGAACAAGGGAAAGAGCCGGTGAAGGGGCAGAACAGGCAGGTGAGAGTCTAAGAGGGCTCAGTAATCTGAAGCTTGGTGGGAAGAAGGGATTCTGGGCTAGAAAGGGTGCAGAAGCCTGAAGTAGAAAGAGACGGGATTTTGGTCCGGGGTGGAGAGCGAATGCATTGAAAAGGGCCAAGGCCCAGGATAAGGTAGACATTTAAAGGGGTACGGATGCCCAAGGTAGAGCAGACACTTGAGGAGACCAGCTCAGCAAACGGAAGACACTTAAAGTGGTAGGTTCTCAAGAGAGAAGAAGTTTTTAAGACTAGAGCTAAGCAAGACATTTAAAAGGACATGGGTTGGGATTTGGGAACACGTTTATTCCAGAGGCAGGAACAAAGGAGTCGCTTGTCAAGGATCTGGTTAGAGAAGACTAGGGTCTTCCTCGAAGGAAGCACGCGCACGCCTGCTCTCCCCCATTGTCTTTTCTGGCTTCTCCAGGTTCCCTCGACCCAGGACCCCCTGTTCCCAGGCTATGGCCCCCAGTGCCCTGTAGACCTGGCAGGCCCCCCGTGCTTGCGACCCCTATTTGGGGGTCTGGGTGGCTACTGGAGGGCCTTGCAGAGGGGCAGAGAAGGCAGGACCATGACATCTAGGGCCTCTGAACTTTCTCCGGGGCGCAGCGTGACGGCTGGCATCATCATTGTTGGAGATGAGATCCTTAAGGTGTGTCTGGGACAGAAAAGGGGAGGGCGCTGCGTTCTCCTGTCCTTAAGGGCCTGCTGCACATCCCTCCATGGAAGGAGGTGAAACAGGGTGGGAGCCTCTTTGCTGCAGTAGGATCCTGGAGTGAATCCAGCATATTGGAGGAAAATTAACCCTCATTCTTTCAATTACTCTACTGAAAAACTTGTAGCAAAGTCCCTACAATTTTTCAACCTGAGAGAGCTGATTGAAAAAAAGAAAAATAAAAAGGTCATTGCAATTTACCAAGCAGTATGGTAGAGGGCAGAGGAGCTACACAACAATGACAGGAAGCCCCTCGAGTAGAGGAGGTACAGGTGTGTGTATTGTATATTTAAGAGTTTTGGCCGGGTGCGGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGTTCAGGAGTTCGAGACCAGCCTCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGCAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAGTTTTACCCAGCCTTTTTGGAAATGACTCAAGGTACTCAGCGTAGTGGATAAGTGAGCTAGAAGGAAGGTACTAGAAGGGATGAATCCCCTCCGAATGATCAGGAAAGTCTTACTAGAGGACATAACAGATGACACGGGTTTTTTTGTTTTTGAGACAAGATTTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCACAGCTCACTGAAGCCTCCATCTTCCAGGCTCAAGCAGTCCTCCTGCCTCAGCATCTGGAGTTGCTGTGACTACAGGTGTTAGCCGCCACACCTGGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCAGAAACGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCCACACCTTGCTGGGATTATAGGCATGAACCACTGAGCTTGGCCAAATGTCAAGTTTTAATAATAATCTTTTTTAATATTCTTTGTAAATTTGTGTTTTTTTTGTTTTTTTTGTTTTTTTTTTTTAGATAGTCTCACTCTGTTGCCCAGGCTGGAGTGCATTGGTGGGATCTCAGCTGACTGCACCTCCACCTCTCGCGTTCAAGCAGTTCTCATGCCTCAGCCACCCGAGTAGTTGGGATTACAGGCATGAGCCACTGCACTCAGCCTTAATAGACCCTTTTTTTTTTTTTAGACAGAGTCTTGTTCTGTTGCCCAGGTTGGAGTGCAGTGGCGTGATCAATTTTGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTGGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGGGACGGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAATGTTGGGATTACAGGCGTGAGCCACCTCACCTGGCCCTGACCCCAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTTTTGTTGCCCAGGCTGGAGTGCAATGGCTCGATCTTGGCTCACCGTAACCTCCGCCTCCTGGGTTCAAGCGACTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAAGCATGGGCCACCACGCCCGGTTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCTTCAGCCTCCCAAAGTGCTGGGAGGCATGAGCCACTGCGCCCGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGACGGAGTTTCGCTCCTGCTGCTCACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTANN	benign	15,327
A mutation at chromosome position 154988128 on chromosome 1 in gene FLAD1 (flavin adenine dinucleotide synthetase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Multiple_acyl-CoA_dehydrogenase_deficiency', 'Myopathy_with_abnormal_lipid_metabolism']	CACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAGGCAATTATCTCACCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTGGGGTTTTTGTTTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGACTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATTTTGGCCAGGCTGGTGACCCCTATATTTTAAGTGCCTACTAGAGTCTGGTAGTGTCCTATACATCACATATATGTGATTTTACTAATCTTCACAACAACCCCACACAAAAATCCCACGAAGTTGGCACTTTTTTTCTTCTTTAAAATTTTATTTTTCTGTGTGCATTTGTTTTATAAACGGGGTTCTCGCTATGTTAAACAGGCCAGCCTCAAGCAATTCTCCCACATCAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCAACCTTGCCCAGCCCCCCACCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTGTCGCCTAGGCTAGAGCTAATTTTTTGTATTTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCAAAAATGCTGGGATTACAGGCGTGAGCCACCACACCTGGTCGGCAAAAAATCCCAATTGATGAAACTGGGGGTCAGAGAGGTTGAGAAACCTGCCCAGGGTTACATACCTAGGAAGTTGTAGAGATGGGATTCCAGCCTAATGCCTGATGCTCCCTTACTCCAAAACACAGACCCTTTTTTTTTTTTCCTTTGGTGACAGGGTCCCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGTCTCTGCCTCCCAGGCTCAAGCAGCCCACCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTTACCATACTGTGCCGGTTGGTCTCGAACTTCTGAGCTCAAGCGAGCCACCCCACTCCACCTCCCAAAGGGCTGGAATTACAGGCATGAGCCACCATGCCCGGCCATCAGAACACAGACCCTTAACCACTAAACCCTTTGTAGACAATTAGAGGGAGATGGGGCTGGAAAAGAAGATAGGGTATACGCCACAGACAGCCCCAAATACTCTGCAAAGGAATTTGAACTTTCTTCTGTATACAGTTGGAAACAACAAATGGCTTTTGAGTCCAAGAGTGATGCAATCACAGTGACGCATTAAAACGGTTACTCCGGAGACATCAGAGCACTGTGGCTGGAGGCTGGGAGCCTGGCCAGGAAGCTGTCGCCATTGTCCAGGTGAAAGGTGCTAAGGACCTGCTTGGTGGCAGTGGGGACAGAAAGAAGAAAGCAGGCCAGGCGTGGTGGCTCACACCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGACCAGGAATTCAACACCAGCCTGGGCAACATGGCAAGACCCCATTTCTACAAAAAAAATTTAAAATGAGCTGAATGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGGGGTGGCCCTTGAAGCCAGGAGGTTGAGGCTGCAGTGAACTGTGACTGAGCCACTATACTCCAGCCTGGGTGACAGAGACCCAGCTTTAAAACCAAACAAATGGATTTTCCCACTCTTGTGTCCAGTCCAGGCCCCTCAGCAGCCTGAGGTGGTGTCCTTCAAAGAGCAGAGCACTGCATCATCAGGTGGATGCAGCCATCATCTTCAACCCCTCCCCTTCATCCCTACAGTACTGATGGCCTCATCTTCCCCTTCAACCCCCAGGGACACACTCAGGACACCAACACCTTCTTTCTGTGCCGGACACTGCGCTCCCTAGGGGTCCAGGTTTGCCGAGTCTCAGTTGTACCTGATGAGGTAGCCACCATTGCAGCTGAGGTCACTTCTTTCTCCAACCGCTTCACCCATGTCCTCACAGCAGGGGGCATCGGCCCCACTCATGATGATGTGACCTTTGAGGCAGTGGCACAGGCCTTTGGAGATGAGCTGAAGCCACACCCCAAGTTGGAAGCAGCCACCAAAGCCCTAGGAGGGGAAGGCTGGGAGAAGCTATCATTGGTGCCCTCCTCTGCCCGCCTGCATTATGGCACAGATCCTTGCACTGGTCAACCTTTCAGATTCCCTCTGGTCTCCGTCCGAAACGTCTACCTCTTCCCAGGCATTCCAGAGCTGCTGCGGCGGGTGCTGGAGGGGATGAAGGGACTATTCCAAAACCCAGCTGTTCAGTTCCACTCAAAGGAGCTATATGTGGCTGCTGATGAAGCCTCCATCGCCCCCATTCTGGCTGAGGCCCAGGCCCACTTTGGACGTAGGCTTGGCCTGGGTTCCTACCCTGACTGGGGCAGCAACTACTATCAGGTGAAGCTGACTCTAGACTCAGAGGAAGAAGGACCCCTGGAGGAATGCTTGGCCTACCTGACTGCCCGTTTGCCCCAGGGATCGCTGGTCCCCTACATGCCCAACGCTGTGGAGCAGGCCAGTGAGGCTGTATACAAACTCGCTGAATCAGGTAGGGACCTTATGGAGGAGGGGCATTATGCCCAAAGCCATTGGTGGCACCCCAGATCTCAGTAATGCAGGGGCTGTTGGGTGCTTCCTGCAAATCCCTGAGAGGGCAGAAGATAGCTTCTGTTAATTCATTATTCTTCCAATAAATGTTGATTGAGTACCTATTTTCATCAGCACTGTGCTAGGTGTTGGGGATATGGCTCAATAGGATAATGTATGCCCTGCTCTTATGGACCAGTGTTTTAACAAAAAAAGATGGACATTAAACAGGTGATCCTGCATGGGGTGATGAAAGGAGTGATCTCCCACAGCAGGGAGATCAGCCTTGATCTGGGGTCAGAGAAGGCCAAATGACATAAACTGAGTGATAAGGAGGATTTGATCAGTTCAGTAGGTGGGCAAGAGCCAACAGTATGAATGAGGGCCTGCAAGGAAGCAGCATGGGGTTAGGGAATGGAAGGAAGCCCACACCCCACACCCCCTGCTACAGAGGAATGACACTGAGGCTACTGTGAGGTGTGGCTGGGTGGCAGATGGCAGGGCAGGTCAGGGGCAGACTGCAGGGCCTAGCGGGCAGCATGAAGGAGTTTGGACTTTATCCTCAGAACACTGGGAAGATATTGAAGGGTTTAAGCAAGGGCAGCATGCCTTCACTCCCCTTTGATAGCCATATGTGTCCATCTGATGCCCTCTTCCCTGCCTGCTTGGCAGGGTCTTCTTTGGGGAAAAAGGTGGCAGGTGCCCTACAGACCATTGAGACCTCCCTGGCTCAGTACAGCCTCACCCAGCTCTGTGTGGGCTTCAACGGGGGCAAAGACTGCACTGCCCTCCTGCACCTCTTCCATGCAGCTGTGCAGAGGTGAGCCTGCCCCCGGGAGACAAGACCCCTGATCTGTTTCTCCAGTTCCACATCCCAGAAAGCAAGGAGAAAGGGGGTGTACAGGTGGAGTTCAAGAGGGAGATAGTCATGGTGACCTCTCAGTTCCATTCTCCCACCATATTGAGTATATGATATGTGCCTGGCCTTGTGTATGGATGTGCAGGCCACTATCCCTGACGACAGGGAGGTCACAGTCCTGCTGGGGAGATGAGAGATTTACATACCTGAACCAGGGATGCGTGCTTAGATTTGAGAGGTGAAAGGTCAGAGTGGGCTTCCCAGAGGAAGTGGGTCTAATGGATGGAAAGGACAAGGAAAAGGGAGAAGGGGTGAGAGTCTGTCCTAGGGGCCAACGAGAACAGTGAGCTGTTTCAGGGGAGCCATTTCCTTGTCCATGCTCACAAGCCTGTGGATTCTTCCCCCTCTGCAGGAAATTACCTGATGTTC	CACGCTGGAGCGCAAATGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTCAGGCAATTATCTCACCTCAGTCTCCCGAGTAGCTGAGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTGGGGTTTTTGTTTGTTTGTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGGTCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGACTGGCTAATTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATTTTGGCCAGGCTGGTGACCCCTATATTTTAAGTGCCTACTAGAGTCTGGTAGTGTCCTATACATCACATATATGTGATTTTACTAATCTTCACAACAACCCCACACAAAAATCCCACGAAGTTGGCACTTTTTTTCTTCTTTAAAATTTTATTTTTCTGTGTGCATTTGTTTTATAAACGGGGTTCTCGCTATGTTAAACAGGCCAGCCTCAAGCAATTCTCCCACATCAGCCTCCCAAAGTGATGGGATTACAGGCATGAGCAACCTTGCCCAGCCCCCCACCCTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTCACTGTCGCCTAGGCTAGAGCTAATTTTTTGTATTTTTTTGTAGAGACAGGGTTTCACCATGTTGCCCAGGCTGGTCTCAAACTCCTAGGCTCAAGCAATCCTCCCACCTCAGCCTCCAAAAATGCTGGGATTACAGGCGTGAGCCACCACACCTGGTCGGCAAAAAATCCCAATTGATGAAACTGGGGGTCAGAGAGGTTGAGAAACCTGCCCAGGGTTACATACCTAGGAAGTTGTAGAGATGGGATTCCAGCCTAATGCCTGATGCTCCCTTACTCCAAAACACAGACCCTTTTTTTTTTTTCCTTTGGTGACAGGGTCCCTGTCACCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAGTCTCTGCCTCCCAGGCTCAAGCAGCCCACCCACTTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGCGCCACCACGCCCCGCTAATTTTTGTATTTTTTTGTAGAGATGGGGTTTTACCATACTGTGCCGGTTGGTCTCGAACTTCTGAGCTCAAGCGAGCCACCCCACTCCACCTCCCAAAGGGCTGGAATTACAGGCATGAGCCACCATGCCCGGCCATCAGAACACAGACCCTTAACCACTAAACCCTTTGTAGACAATTAGAGGGAGATGGGGCTGGAAAAGAAGATAGGGTATACGCCACAGACAGCCCCAAATACTCTGCAAAGGAATTTGAACTTTCTTCTGTATACAGTTGGAAACAACAAATGGCTTTTGAGTCCAAGAGTGATGCAATCACAGTGACGCATTAAAACGGTTACTCCGGAGACATCAGAGCACTGTGGCTGGAGGCTGGGAGCCTGGCCAGGAAGCTGTCGCCATTGTCCAGGTGAAAGGTGCTAAGGACCTGCTTGGTGGCAGTGGGGACAGAAAGAAGAAAGCAGGCCAGGCGTGGTGGCTCACACCTATAATTCCAGCACTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGACCAGGAATTCAACACCAGCCTGGGCAACATGGCAAGACCCCATTTCTACAAAAAAAATTTAAAATGAGCTGAATGTGGTGGCACGCGCCTGTAGTCCCAGCTACTCGGAAGGCTGGGGTGGCCCTTGAAGCCAGGAGGTTGAGGCTGCAGTGAACTGTGACTGAGCCACTATACTCCAGCCTGGGTGACAGAGACCCAGCTTTAAAACCAAACAAATGGATTTTCCCACTCTTGTGTCCAGTCCAGGCCCCTCAGCAGCCTGAGGTGGTGTCCTTCAAAGAGCAGAGCACTGCATCATCAGGTGGATGCAGCCATCATCTTCAACCCCTCCCCTTCATCCCTACAGTACTGATGGCCTCATCTTCCCCTTCAACCCCCAGGGACACACTCAGGACACCAACACCTTCTGTGCCGGACACTGCGCTCCCTAGGGGTCCAGGTTTGCCGAGTCTCAGTTGTACCTGATGAGGTAGCCACCATTGCAGCTGAGGTCACTTCTTTCTCCAACCGCTTCACCCATGTCCTCACAGCAGGGGGCATCGGCCCCACTCATGATGATGTGACCTTTGAGGCAGTGGCACAGGCCTTTGGAGATGAGCTGAAGCCACACCCCAAGTTGGAAGCAGCCACCAAAGCCCTAGGAGGGGAAGGCTGGGAGAAGCTATCATTGGTGCCCTCCTCTGCCCGCCTGCATTATGGCACAGATCCTTGCACTGGTCAACCTTTCAGATTCCCTCTGGTCTCCGTCCGAAACGTCTACCTCTTCCCAGGCATTCCAGAGCTGCTGCGGCGGGTGCTGGAGGGGATGAAGGGACTATTCCAAAACCCAGCTGTTCAGTTCCACTCAAAGGAGCTATATGTGGCTGCTGATGAAGCCTCCATCGCCCCCATTCTGGCTGAGGCCCAGGCCCACTTTGGACGTAGGCTTGGCCTGGGTTCCTACCCTGACTGGGGCAGCAACTACTATCAGGTGAAGCTGACTCTAGACTCAGAGGAAGAAGGACCCCTGGAGGAATGCTTGGCCTACCTGACTGCCCGTTTGCCCCAGGGATCGCTGGTCCCCTACATGCCCAACGCTGTGGAGCAGGCCAGTGAGGCTGTATACAAACTCGCTGAATCAGGTAGGGACCTTATGGAGGAGGGGCATTATGCCCAAAGCCATTGGTGGCACCCCAGATCTCAGTAATGCAGGGGCTGTTGGGTGCTTCCTGCAAATCCCTGAGAGGGCAGAAGATAGCTTCTGTTAATTCATTATTCTTCCAATAAATGTTGATTGAGTACCTATTTTCATCAGCACTGTGCTAGGTGTTGGGGATATGGCTCAATAGGATAATGTATGCCCTGCTCTTATGGACCAGTGTTTTAACAAAAAAAGATGGACATTAAACAGGTGATCCTGCATGGGGTGATGAAAGGAGTGATCTCCCACAGCAGGGAGATCAGCCTTGATCTGGGGTCAGAGAAGGCCAAATGACATAAACTGAGTGATAAGGAGGATTTGATCAGTTCAGTAGGTGGGCAAGAGCCAACAGTATGAATGAGGGCCTGCAAGGAAGCAGCATGGGGTTAGGGAATGGAAGGAAGCCCACACCCCACACCCCCTGCTACAGAGGAATGACACTGAGGCTACTGTGAGGTGTGGCTGGGTGGCAGATGGCAGGGCAGGTCAGGGGCAGACTGCAGGGCCTAGCGGGCAGCATGAAGGAGTTTGGACTTTATCCTCAGAACACTGGGAAGATATTGAAGGGTTTAAGCAAGGGCAGCATGCCTTCACTCCCCTTTGATAGCCATATGTGTCCATCTGATGCCCTCTTCCCTGCCTGCTTGGCAGGGTCTTCTTTGGGGAAAAAGGTGGCAGGTGCCCTACAGACCATTGAGACCTCCCTGGCTCAGTACAGCCTCACCCAGCTCTGTGTGGGCTTCAACGGGGGCAAAGACTGCACTGCCCTCCTGCACCTCTTCCATGCAGCTGTGCAGAGGTGAGCCTGCCCCCGGGAGACAAGACCCCTGATCTGTTTCTCCAGTTCCACATCCCAGAAAGCAAGGAGAAAGGGGGTGTACAGGTGGAGTTCAAGAGGGAGATAGTCATGGTGACCTCTCAGTTCCATTCTCCCACCATATTGAGTATATGATATGTGCCTGGCCTTGTGTATGGATGTGCAGGCCACTATCCCTGACGACAGGGAGGTCACAGTCCTGCTGGGGAGATGAGAGATTTACATACCTGAACCAGGGATGCGTGCTTAGATTTGAGAGGTGAAAGGTCAGAGTGGGCTTCCCAGAGGAAGTGGGTCTAATGGATGGAAAGGACAAGGAAAAGGGAGAAGGGGTGAGAGTCTGTCCTAGGGGCCAACGAGAACAGTGAGCTGTTTCAGGGGAGCCATTTCCTTGTCCATGCTCACAAGCCTGTGGATTCTTCCCCCTCTGCAGGAAATTACCTGATGTTCNNNN	pathogenic	15,331
Gene GBA1 variant at chromosome position 155235749 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']	GATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGG	GATCTCTCCCCATACCAGGTCTAGAACTGTGTGTCCTGTCCTTCCCTGGTGGCCGCCTGCTGCCCAGAGCCCACCTCCCAAGGCTGACTCTTCCTCCAGCTCCATCTTTACCCCTTCTACCCCAGTGGTTCTCCTCCATCCCACCCTTCTCTCTCTGCTCCAGCCCTGCCTCCTTGGACGCCTTCGTCTTCAGCTACTTGGCCCTGCTGCTGCAGGCAAAGCTGCCCAGTGGGAAGCTGCAGGTCCACCTGCGTGGGCTGCACAACCTCTGTGCCTATTGTACCCACATTCTCAGTCTCTACTTCCCCTGGGATGGAGGTAAGGGGCAGATGGGAGGGGCAGCCCTGGGGAGAGTGGGCAGGGATCCAAGAACTAGTTCTCCTAACACACCTTCCTTCCTTGACCCTCAGCTGAGGTACCACCGCAACGCCAGACACCAGCAGGCCCAGAGACTGAGGAGGAGCCATACCGGCGCCGGAACCAGATCCTATCTGTGCTGGCAGGACTGGCAGCCATGGTGGGCTACGCCTTGCTCAGCGGCATTGTCTCCATCCAGCGGGCAACGCCTGCTCGGGCCCCAGGCACCCGGACCCTGGGCATGGCTGAGGAGGATGAAGAGGAATGATTTGTCCTCACGCTCCCAAGACTGGTTTTTCTACTCTCATGCATTCCAGAGGCCCCCGTGCCTCCTCGTTGTTGGTACAGCCGGACACGGGGTGCTGCCACCCAGAATAAAGCCACTCACACTGACTGGGCTCAAACATTTTCTCCTTTAAGAGCTGCCATTTTTCCTGGCTGGTGCCATAGGAATCATCTGGGTGCCTGGGCACACCCGCTGCTGCTTTAAGGCTTCCGCCCTGATGCTGACACTGCTGCTCCACGGGCCCAGTTCTGCATCTCCAGGAAAGACAAACAGTCTCCAGTTTTGGGCCCAGCTTTCCTAGTCTCTTCTTTTCCTTACCCTCAGCCCTGATCTTGTGTTTGTACGGACAGTGAGCTCACCCTAGGCCTGGACCCAGGCCCAGTTTCCAAAGCAAGCAGCACACAGCGCATGTTCACATAAGCATGGGGGCTGGGGGGACACTGGGGCTTACTGATCTTTTTCTAGGGGCCTCCAGCCCCTGGCACCACCTAGAGGGGAAAGTGAGTCACCCAAACCATTGCCCCTGGGCTTACGTCGCTGTAAGCTCACACTGGCCCTGCTGTGCCCTCTTTAGTCACAGACAGCGTGTGAGCTGACTCTGTCCCTTTAATGCCCAGGCTGAGCCCAGTGCCTCCTTGAGTATCTGCTCCATCACTGGCGACGCCACAGGTAGGTGTGAATGGAGTAGCCAGGTGAGATTGTCTCCAGGAAGCCCACAGCAGGATCCTTGATGGTAAGAGGCACATCCTTAGAGGAGCTAGGGAGCAGGGAGGAGAAGCTGAGAGTGTGATCCTGCCAAGGCCCCCAACGCTGTCTTCAGCCCACTTCCCAGACCTCACCATTGCCCTCACCGGTTTAGCACGACCACAACAGCAGAGCCATCGGGATGCATCAGTGCCACTGCGTCCAGGTCGTTCTTCTGACTGGCAACCAGCCCCACTCTCTGGGAGCCCTCAGGAATGAACTTGCTGAATGTGGGAACAGATGGTCAGAGTCCCTCGGGGTACCTCCCATGAAACCCTCATCTAAGAAGTCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	15,378
Is the genetic mutation found on chromosome 1 at position 155237425, within the gene GBA1, considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']	TCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCT	TCACCCACCCACGGACCCACCCCATAACTCCTGCAGAGGCTCTGCCCTGGCTCTCTAGGCCTGGAGCCATGCTGCTGGGCACTGACCCTGCTTTTCTGCATCGCAGTCCAGCCTCAGGCATTGGGGTTTTCTGTTGCTACCTAGTCACTTCCTGCCTCCATGGTGCAAAAGGGGATGGGTGTGCCTCTTCCGAGGTTCCACCCTGAACACCTTCCTGCTCCCTCGTGGTGTAGAGTGATGTAAGCCATCCGATGTAGGAGATGATAGGCCTGGTATGGAATGGGGGTGCCCGCCCTCCACTCACCTGAAGTGGCCAAGGTGGTAGAACATGGGCTGTTTGTAAAACGTGTCCTTGGTGATGTCTACAATGATGGGACTGTCGACAAAGTTACGCACCCAATTGGGTCCTCCTTCGGGGTTCAGGGCAAGGTTCCAGTCGGTCCAGCCGACCACATGGTACAGGAGGTTCTAGGGTAAGGACAAAGGCAAAGAGACAAAGGCGCAACACTGGGGGTCCCCAGAGAGTGTAGGTAAGGGTCACATGTGGGAGAGGCAGCTGTGGGTAGGTCAGCCCTGTGAGGGGCACATTCCTTAGTAGCTAAGGAGTTGGGGGTGTGAAGATCCAGGCATCTCAAGGGGAGCTGAGAAGTCTGAGGCAGCTGCAAGTGCCTCAGTAGTTGCAAAAGGGGCAATGAGGTGTGCAGACCTGTGAAGGAAAGGGAAGATAGGGAATCATGGTTCCCCAGAGTTGCTCAAAAGGGCAGGCTAGCTGGGGAAAGCTGGACAGGAAGGGCTTCTGTCAGTCTTTGGTGAAACTAGTAAGAGGTCTGAGGTCTGCTTTGCAGGAAGGGAGACTGGGGTGGCTTACCGTGATGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTN	pathogenic	15,400
Gene mutation in GBA1 at chromosome 1, position 155238298—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', 'likely other unspecified diseases']	TGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAAT	TGATGCTGTGGCTGTACTGCATCCCTCGATCCCAGGAGCCTAGCCGCACACTCTGCTCCCAGAACTTGGAGCCCACACAGGCCTCTGAGGCAAAGAGCATGGTGTTGGGGAACAGGCGGTGTGTCTCCCCTAGGGTGGCTTTGGCTGGAGCCAGAAAGTCCAGGTACCAATGTACAGCAATGCCATGAACATATTTAGCTGCTTCTGGGTCTGTCAGTACCTGCAAAGGAAGAGCAACTGATCCTGGACCTTGCACACAGGCTTCTGGAACTTCTAGTTCCTGTTGTAGGAATCCTGGAGTTGGGTGACGGGAAGAATGCAACTAGAGAGGTTTGGGGAGATTTTTTTTTGTTTTTGAGACAGGATGTCACTCTGTCACTCGGGCTGGAGTACAGTGGCGCAATCACGACTCACTGCAGCCTTGACTTCCTAGGGTCAACTGATCCTCCCACATTAGCCTCCTGAGTAGCTGGGACTACACGGGTGCCACACCCAGCTAATTTGTGTGTGTATGTGTGTGTATGTATGTGTGTGTGTGTATATATATATACATATAAACACATATATATGTATATACACATACATACATGAACCACCACCCCCAGCCTAGATAGTTTTGTTTTGTTTTGTTTCGAGATGGAGTCTCGCTCAGCCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCACCATCTCCCGGGTTCAACTGATTCTCCCTTCTCAGCCTCCTGAGTAGCTGGGATTACAGACACCCACCATCATGCCCAGATAATTTTTTTTTTTTGTATTTTAGTAGACACAGGGTTTCAACACGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAGGTGATCACCCGCCTCGGCTTCCCAAAGTGCTGGGTTTGCATGAGTGAGCCACCTCGCCCAGCCCCTAGAAAGGTTTCAAGCGACAACTGTGGGATCCATGGCACCCTGGAGGTCCAGGGGAATGGTGCTCTAGGAATCCATAGTTGGGTAGAGAAATCGCTCTAAGTTTGGGAGCCAGTCATTTGGATGCTGGATTTGAAGGTCACTGGAGCACCATGGAGGTCCAGGCCTTACCACCTTTGCCCAGTGGGGCAGCAGCAAGCGTTGGTCATCCAGCATGAGTAGGCGGACATTGTGGTGAGTACTGTTGGCGAGGGTAGGACCTAGGTCACGGGCAATGAAGTCTCGCTGATGTTCAGGGGTGAAGCCCAGGCACTGGAAGGGGTATCCACTCAACAGCCCAGCAGAAGGCTCATTTTCAGCTGTCACTGCCCAGAACTGTAACTTGTGCTCAGCATAGGCATCCAGGAACCTGGCAAGAGAAAGGTCATGAATGATCCGGCCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATNN	pathogenic	15,420
Is the genetic change at chromosome 1, position 155239657, within gene GBA1 benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic	CCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGAT	CCAAGAAAGTGGACCAGACCAGCTGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGTGGATCACTTGAGTTCAGGAGTTCGAGAACAGCCTGGCGAAACCCCGTCTCTACTAAAAATAGAAAAATCAGCTGGGCCTGGTGGCAGGCGCCTATAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATTGCTTGAACTCAGGAGGCAGAGGTTACAGTGAGTGAAGATGGCGCCACAGCACTCCAGCCTGGGTGACAGAGAGAGAGACTCCTTCTCAAAAAAAAAAAAAAGAAGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATNNNNN	pathogenic	15,427
Clinical classification of chromosome 1, position 155239968, gene GBA1: benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['GBA1-related_disorder', 'Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']	AGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTG	AGAAAAATAAAAAGAAAGTGGGCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGCCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGNNN	pathogenic	15,432
Is the genetic variant on chromosome 1, position 155239989, gene GBA1, benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset', 'likely other unspecified diseases']	GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAAT	GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAA	pathogenic	15,433
Is the genetic variant on chromosome 1, position 155239989, gene GBA1, benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Gaucher_disease']	GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAAT	GCCAGACCGAGAGAACAGGAAGCCTGATGGAGTGGGCAAGATTGACAGGCCCAAGGCTGAAAGGCCCAGAAGGTAGAAAGGTGAGCTGAGGACAGGCAGATCTGGAAGTGGAACTAGGTTGAGGGTTGGGACACAGATCAGCATGGCTAAATGGGAGGCCAGTCCTGATCCCACATCCTTGCTGATCCCTTACTTCACAAAGTATCTGGCCCAGGTCTGGTGGTAGATGTCTCCGGGCTGTCCCTTGAGTGACCCCTTCCCATTCACCGCTCCATTGGTCTTGAGCCAAGTGGGTGATGTCCAGGGGCTGGCAAGGAGTGAAACGGGACGCTGGGCCAACTGCAGGGCTCGGTGAATCAGGGGTATCTAGAGACAAAGGTAGTGAAGAGAGAAGCACCCAGAGTTGGAACACATACTAGCCCAACCAGTGCATCCGGTTCAGCCATTAGCCTCCACCCTCCCACCCCCAGGACAAAACAGCAGGGGACAAAATGTCTGTACAAGCAGACCTACCCTACAGTTTCTCAACCCCCAGACATCAGGGCCCTCAGGGCCTGAAAAAGCTAGAATGCCTACCTTGAGCTTGGTATCTTCCTCTGGGAGGCTGAAGTTGTGCAACTGGAAATCATCAGGGGTGTCTGCATAGGTGTAGGTGCGGATGGAGAAGTCACAGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATN	pathogenic	15,434
Evaluate the clinical significance of the mutation at chromosome 1, position 155240660 in gene GBA1 (glucosylceramidase beta 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['GBA1-related_disorder', 'Gaucher_disease', 'Gaucher_disease-ophthalmoplegia-cardiovascular_calcification_syndrome', 'Gaucher_disease_perinatal_lethal', 'Gaucher_disease_type_I', 'Gaucher_disease_type_II', 'Gaucher_disease_type_III', 'Lewy_body_dementia', 'Parkinson_disease,_late-onset']	AGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATCCCAGCTCTCAGCCCATTTCCTTGCCTGGAAAATGGAGGCAATGCCACAACCTCAAAGGGTGGTTACTGCAGTCAGTGAGGTAAGTGCAGTGCCTGACCACTTGGTAGGCACCTGGGAACTACTTGTCTCTTGTTTGTATTTTTTGTTGTTGTTGTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCTCCAACATGCTCAGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTGAAACTCTGGACCTCAGGTGATCTGCTGCCTTGGTATCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCTGGACCCCAGCCATCCTTTTTGTTCTTTAAATGATCTCAGTGAAGTCTTTCTAGATACACTCCAAGCAAAATTGATCATTTCTTCTTCTAGGTTCCTCCAGTAATTTTTTTTTTTTTGGTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGTGATCTCGGCTCAAGCAATTGCCCTGCC	AGCTGGCCATGGGTACCCGGATGATGTTATATCCGATTCCTACAGAAAAGGATGATCAAGATATGGTAGTCCGAGTCAATAGGAGAGTATGGGACTCTGCTTATCACTTGCCAGTCCTAATAGTGTCTGAGTCAGGGCCAAAGGGAACTTGGGCTCCTGGGTTGGAACCTGTGGAGGCTGGCACCTGGGTGAAGCGCAGGCCTTTCTGAGCCTGAGTCCGTAGCAGTTAGCAGATGATAGGCGGTGAAATCTTATTTCACAGGGCATTAAAACAGGAACCAAATGTCAGGGATGGGCAGAAGTCAGGGTCCAAAGAAAGGGCAAAGAAAAGTGTCAGTGGCTCACGCATGTAATCCCAGCACTTTGGGAGGCCGATGTGGGCAGATCACGAGGTCAGGAGTTCGCAATCATCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCAGGCACCTGTAATCCCAGGTACTCGAGAGGCTGAGACAGGAGAATCACCTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGTGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAAAAGAAAAGTGTCTGCTGGGCTCGGTGGCTCACACTTGTAATTCCAGCACTTCGGGAGGCCAAGGCAGGTATATCATTTGAGGTCAGGAGTTTAAGACTAGCCTGGTCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGTGGTAGTGGCGCACGCCTATAATTCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTATAGCCTGGGAGGCAGAGGTTGCTGTGAGGGGAGATCACACCACTGCACTCCTGTCTCGCCGACAGAATGGGCAGAGTGAGATTCTGCCTCAAAAAAATTTTAAAAAAAGAAAAGAAAAACGAAAAGTTTCAATGGCTCTATGTCATCTTGTCCCCTTCCTCCTCACCTTCTTCAGAGAAGTACGATTTAAGTAGCAAATTTTGGGCAGGGGGTGACAGGGCAAGGATGTTGAGAGCAGCAGCATCTGTCATGGCCCCTCCAAATCCCTTCACTTTCTGGAACTTCTGTTCTGGCTGCAGGGTCAGTAGCAGGCCTGAGGACATCCACAGGGAATAAGGGTATCAGTACCCAGCGGGAAACTCCATGGTGATCACTGACACCATTTACCTCTAGGAGGACCCAGCCTGGCCCAGGGGGTGAGGGGTGTAATGGTTACCTGTGCCCGTGTGATTAGCCTGGATGGGCCCCATACTCAGCTCCATCCGTCGCCCACTGCGTGTACTCTCATAGCGGCTGAAGGTACCAAGGGCAGGAAAGGTCGGGGGGTCAAAGGAGTCACAGTATGTGGCATTGCAGACACACACCACCGAGCTGTAGCCGAAGCTTTTAGGGATGCAGGGGCGGGCACCTGGGAGGGAGGGAGTACAAGCAGAGTGAGGTCTGATGAAGACATGGAGAATGGACACATCTGCTAGGAGAGACTGAACACGGTTTCAAAATTCCTCACCCCTTGGCCGGGCGCAGGGGCTCACACCTGTAATCCTAGCACTTTAGGAGGCCGAGGTGGGCGGATCACCTGAGGTGAGGAGTTTGAGACCTGCCTTGCCAGCATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTAGTGGTGGCCGCCTGTAATCCCAGCTACCTGGGAAGCTGAAGCAAGAGAATCGCTTGAATCTGGGAGGCAGAGGTTGGAATGAGCCAAAATTGCACCACTGCACTCCAGCCCAGGCAACAGAGTAAGACTCTGTTTCAAAAGAAAAAAAACAAAATCCTCACCCCAAAGTTGGTCTCAGTCACTCAAAAGGATTTATTGAGCACCTACTAAAAGTCTACCACCAGCTTACTGGAAGGCTACCAAAGGACTATGAGGCAGAAGGGAGGCTCTGTGCTACCTCCCCACTGCCTTGACTCACTCACCTGATGCCCACGACACTGCCTGAAGTAGAAGCCAATCCTGTGAGGCTGCCAGCCATGATGCTTACCCTACTCAAAGGCTTGGGACATTCCTGAGGACAGAATGAGGAATGACTGAAAAGCAAGCCCCTCTCCACCCCTCAACTACTCTCCTGGGCAGGGCTTAGCTGCCTTTGGGTGCCCATGGCCCGGTCTCCCACATTCATTAGGACAAGGCCCACAGAAACCTGGGTGCAGCTCTCCCTGCAACCCTTCTGATGACAACTCTCTGCCCACCCCAAATCAGGATGCTCCCCACCACTCTTCCCACCCATTTCAACTTCGACCCCTCCCTCCATCTGTGCCTTGCTCAAAGAGCCATGATGGCCCTGGATTCAAAGAGAGTCTGTCATTCATTAAATTCCAGTGCCAGGATTCCAGAAGCACTGTGACAATGCTGATTGGGAGCTCTCTCTCTTACCTCTCTGGAAGGACTTGAAAACTCCATCCCCTCAGGGTCATTAGATGAAGAGAAGACCACAGGGGTTCCAGAGTCTCTGAAGGATAGAGGATCCACTAAACAAAAACAAGGATGCAGGTACCTGCCTTAGCTATAGGCACTAGGTTAGCCCTGCAAGTAATTCCGGCTTCCCGATGTGGATGGGTCATGTGATGACTAGGAGCGTCACATGACACAGGAAGTGAGGCAATCACAGCCATATTTCTAAAGGGCAATTGGCTTCCTCTCATCTGTTACAGATTATATGCCCTATAAAACTCTGGAGGGCATGTATGGGTGACAACTTTAGGAAGAGCCTAGAACACAGATTTGCATGGAGAATGGGGTAGAGGCTCCTAAATCCCAGAGGATGGGAACCACAGCAGGCACACTTCTTTTTTGATAGAAATGTCAAAAAGGTACAAATAAAGCTGATATAATTTAAAAAAAAAAACTTCACTGTGCAAAATACTGACACTACCAAGATGTTTAAGACAGTCTTTGCCCTATAGAGGTGTGTGAGGCATGGAAGTCAGACACACAGATATTTACAGATAAAGACAGAAACGGTAACAGGTGTGCATGGAGAGCTCTCTGAGATGAGGAGGGACCATTCGTGGGTGGGGAATTATCCAGGATGGCTTCACAGAGGAAAAAGTGAGGGGGGTTATTAGCCAGTGAAGTGCAGGGCACAAGAGGGTGGGACACTGGCAGTGGGATGACAGGACTGGAGGGAGGGAGTGGTCAGTGCGGCTCCTCTGCAGCGTCCCTTGTTTCATCATCAGATGCAGATGGTAATAACTGTTCTTCCTTCCTCACAAGACAGGGAGGTTTGTAAAGTCGTTCAAAAACCAAAGTGTTGTACAAAGCCATATCCTCAGTGGACACAAGGAGGAAGCTGTCCATGGTGTGGCCTCATGAACCACATCAAATGAGATTTAGCGGGAGTGGCACACACAGTCATGACCTGACTAATCCCAGCTCTCAGCCCATTTCCTTGCCTGGAAAATGGAGGCAATGCCACAACCTCAAAGGGTGGTTACTGCAGTCAGTGAGGTAAGTGCAGTGCCTGACCACTTGGTAGGCACCTGGGAACTACTTGTCTCTTGTTTGTATTTTTTGTTGTTGTTGTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCTCCAACATGCTCAGCTAATTTTTTTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTGAAACTCTGGACCTCAGGTGATCTGCTGCCTTGGTATCCGAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCTGGACCCCAGCCATCCTTTTTGTTCTTTAAATGATCTCAGTGAAGTCTTTCTAGATACACTCCAAGCAAAATTGATCATTTCTTCTTCTAGGTTCCTCCAGTAATTTTTTTTTTTTTGGTTTTGAGACAGAGTCTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGTGATCTCGGCTCAAGCAATTGCCCTGC	pathogenic	15,436
The genetic variant at chromosome 1, position 155291831, affecting gene PKLR (pyruvate kinase L/R): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic	GTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAA	GTGTGTGGGAGAAGTTTTATAATTGCTTCCAAACAGCTGGGTTTAAATATAAAATAGACACACTCATTTTTGGCTCTTGGTTTGTGTGTGGGAACAACATGAGTGGGAAGGAATTTCTGGGTGCAGAAGGAAGCAGCCGGGGATTTGACCAAGCAGGGTATCAGGCAGGCATGAGAGCAGCCAGGACAGTGGTCTACAAGCCCAGCACGGAGGTTGTGAAGACAGTGACAAAATCAGCTGCCCAGCCCTCACTTCTCCCCAGCATCCATCCCACCCAGTTTTCCCAAAAGCGTGGACTTTCATGTAACTGTTAGTCACCATGAAGGGGTAGCCTGCCCTGGCACGAGATGCCCAGATTATCATGAGGGCTACATATGAGAATGGGAGACTGTGGACAAGATTGCCCTGTCTCCCCTCTCCCCCACCCCAAGGGATGGGATGCCTGGGGTTATGGAATTAACCAGCCAAACTGGGATTAAAGACTCAAGGCATCTTAGGGCCTGCTGAGCAGATTGGATGCAGGGAATGTACAATTGGTGCTGTTGGGTGGCCAGTGCATAATTGGACACAGACTTTCAGGACCTGTGTGAAATGGAGATGGGGAAGGGGCAACCTCGAAGGGGCTAGATGACAGTTATAGTCTCAGATAGGCCTCAGGTAGGGAGGGTCAGGAATAGAGAAGAGAGGACTTAAAGGTGGGGCTTTGGAGGGGTGTGGGCTGGAGAACGTAGACTGGGGAGGAAGGGATGGGGTACAAGGGTAGGCTGGGCCAGAGGAGGGAGGGGCGTCTCAGGATATGCTTAGCACCCGCATGATGTTGGTGTAGCCGGAGCCAGGTCGCCAGCCTGTCACCACAATCACCAGGTCTCCAACACGGAGGAAGCCACGGAGCTTTCCTGGGGGAGGGAAAGAAAACAAATCATTGGACAGGTGTGGTGGCTCACACCTGTAATCCCATCACTTTGGGAAGCCAAGGCAGGAGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGTAGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGGACAGAGCAAGACTCCATCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAAGAAGAAAAGAAAGAAAATTAGTCATTGAGGGACCAGGCCAGCCCTGTAACGAGAACCAGCCACCACCTTTCACCACATCAAGGCCATCCTGTAGGGAATGAGGCAGTGAAGTATGTCCCACGGGTGGCATGCAGGGAATGTGACCACTGCAGTATATTAAAGGTGTAAGAGATGCCAGCACGGTGGCTGACGCCTGTAATCCCAGCACTCTGGGAGTCCGAGGCGGGCGGATCACGTGGTCAAGACATTGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGCGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGAGATCGTACCCCTGCACTCCAGCCTGGCGACAGAGCAAGACTCTCTCTCAAAAAAAAAAAAAGGTGCAGGAGTATCTGTGGGCTAGGGCAGAGTGTGTTGCTAAGTAGCACGGCCGTCTGCCTGTGTGGCTATGCTGATGGAAGAGGTATTTGTGATATGCCAGACTGATATCTCAGTCTTAGTGACTCTCACAGGGAAAACCTGGGACCACAGGAGAGAGGCAAGGCCCTTTGAGTGGGTATGGGAAGCTGGGTTGGGGGGCTCCTGATACAAATGGTAGGAGTGGCAGGGAAGGTCTAGGTAGCTCACCACTTTCAATGCCAAATTGCACCCGGCGATCTACATCATCTGCCCAGATGGCTTCTGGAGGTTCACGGTAAAGCAAGGGGGAAGACTCCTCGGCATAAGTGGACCTGGCGGGCAGCCTGGGCAGAGCGGGTGACAGCAATGACTGCTGCCCGAGGTCGGTACCGAGACAGAAGCTGGGCTGAGCTGGAGGAGGCAGAGAAGGTCAGCCCAGAACAGCAAGAAAGTGGTGAACGAGGAAAGGAGAATCTTTGTTCCAGTTCCAGGTGTCACTAACAAGCTGTGTGACCCTGGGTAAGTCATCATACTTCTCTGGGCCTTGGTGTTCTCACCTGTAAAATGAGTGTAAGAATGCCTGCCTCCCAGGCCGGGAGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGAGAATTGTTTGAGCCCAGGAGCTGGAGACCAGCCTAGGCAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTA	pathogenic	15,447
Is the variant located on chromosome 1 at position 155294259, gene PKLR (pyruvate kinase L/R), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic	CAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTG	CAACATAGTGAGACCCCATCTCTGCATTAAGAAAAAAAAAAGAAAGAATGCCTGCCCTCCCTACCACACAAGAAAGATATGAGATAATACAGATATATCAAATGAGATAATAAGGAGAAATCTCTTTAAGAAATATAAAAGCTGGCCAGGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAAATATGCAGGGCGTTGTGGCATGCGCCTGTAATCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATCACTTGAACTTGGGAGGTGAAGGTTGTGGTGAGCTGAGATTGCACCATTTTACTCCAGCCTGAGCAACAGAGCGAGCTGCCGTTCTCAAAAGAAAAACAAAACAAAACAAACAAACAAAAACCCAAGAGTATAAAACCCTTTTGAGAAAGTCCATTATGTGCTTAATTTACTATATAGATATTAAGTACTATCTAGTACTTAATATCTCCTGTTAATCCTGCCAACCCCATGAAGAACAAATCATTACCTTGTCCTGTTCATGAGGAAAGACAGCAGGCTAATAGAGCTACATTTCTGAGTAAAGACTTAAACTCAGACCTACTGGACCCTTCTGTAATACCTCAGTATTGGTAGGCTCTGTGGGCCGAATGGACTTGCCTCTGAGCCCCAGAAGCCCAAATGGCCTTGAAGCCAATGTGCCCAGTGATGCCGCTGTCCCCTTCCAGCCCCCAGAAGCTCACTGGCATTCTGTCTCTCCTGGCCTCCAGCTGTCATTGCTGCCTCTCCTCTTGTCTCAGGTGGACACTCTTCACCCCTGGTGACCAGACTAAACCCAAGCCTGGGGCCCGTCCCAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGT	pathogenic	15,461
Does the genetic variant at chromosome 1, position 155295172, impacting gene PKLR (pyruvate kinase L/R), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic	CAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCACCGGCACGACCCGGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTT	CAGCCCACCCCTGACCCAAAGCTCCATCTGGACATTCCCAATATCCCCCTCACCGGCCAGTTGTGGTCAGCACAATGATGGCAGCAGCACAGCACTTGAAGGCAGCCTCCACAGCACCAATGGCGGTGACCTCAGTGGGATCACGGCTTAGTGGCGCTGCCCGACGTAGCTCCTCAAACAGCTGCCGGTGGTACACTGCGGCCTCTGCCTCCCGGGCAATCTGCAGGTGCCAGAATGTTAGTCTGGGAAGGGGCACTGGGGTATGGAAGGGATTTGGTTCCCTGGCCCATTTGCTTTTCATTCTGAGCTCCTACCGCATGCTGCATCTTCACCGCTTCCACAGGGAAGTTGCCCTTGGCAGTCTCCCCTGACAGCATGATGCAGTCAGCCCCATCCAGCACAGCATTGGCGACATCGCTTGTCTCTGCCCTCGTTGGCCGGGGCTTGGTAATCATGCTCTCCAGCATCTGGGGGACAGCGTGGATGTCAAAGTTGTAGGACTCACACTGTGACTGGGGACCCTGCCCAAGCTACTTCTCTGACACCCACACTCTCAGAGTGTCCCAAAATCCAGGGTCACAGTCACAACCCCTGAAAATAGGAGTCAAAGTATATTTAACTTTGTCGTTTGGTCACAACCCCTGAAAATAGGGGTCAAAGTATATTTAACTTTGTCGTTTGAGGATCAAACACTTTTCATCCAAATGTGCTATAAACCTACAGTGTGGGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAAGTAGCCTGGCATGGCGGCGGTCACCTGTAATCCCCACTACTTGGGAGGCTGAGGCAGGAGAATTGTTTGAACCCAAGAGGCGGAGGTTGCAGTGAGCGGAGATTGCGCCACTGCACTCCAGCCTGGATGACAGAGTGAGACTCCGTCTCAAAAAACAAAACAAAACAAAATAAACCCCTACAGTGTGGGTATTCACCCACAGGTGTCCCTAAAACCCACAGAGTGCCGAACCTCAAGGCCTCACTCCAGACCTGTGTGGCACAGACAACAGGCTTGCCCGCCAAGTTGCAGCGCCCAATCATCATCTTCTGAGCCAGGAAAACCTTCTCTGCTGGGATCTCGATGCCTAGGTCCCCCCGTGCCACCATGATGCCGTCGCTCACCTCCAGGATTTCATCAAACCTGAGAGGTTGGGAGAATCAAGGCAGAGGCAGGCAGGAGAAGAAAGGTGATGGGGAATAGCGACAGGGCCGAAGGGGAACAGAGCCCAAGCCTCACCTCTTCACGCCTTCGTGGTTCTCAATTTTGCTGATGATCTTGATGCCGTGTCCTTCCGGACCCAGAGCAGCCCTGACGGCAGCCACGTCGCTGGCTTTCCGCACAAAGGAGGCAAAGACGATGTCCACCCCATGCTCCACCCCGAAGCGCAGGTCTCGGACGTCCTGCTCGGACAGCCCGGGCAAGTCCACCTGGGCCCCTGGCAAGTTCACGCCCTTCCGGCTGCCCAGGACGCCGCCGTTCTCCACTTGGGTCACCAGTCCCTCTGGGCCTGCGGACATGGAAAGAGCCAGCTGCGGTCAGGGGTGAGGACGGGGCACAGTTGCAGCAGAGAGGACACTGGGGCTTGGACCCGCAAGAGGTCAGGAACCATGTCCTCCTCATCTCTCCGCCCTTGTTCTGGGCTTCGCCCGGAAGAGGCACAGATGGACGTCCGTGGAAGAAACGACCCACCCATAGTCCAGCCCAAACCCAGGGTGAGCGCAGAGTCTACACGCTGGGGACTCCTGGGACGGGCTGGCAAAAACGCGTGGCCAGGGGAAGGTGTGATCGGTCTGAGGGCTGATGGGGGAGCCAAGGAGAAGGGAATGTGCCCAGCGCACGGATGTGGTCAGGGCGGGAGGCGCGTCCGCACCGATTTTCTGGACCACTAGGGAGATGAGCCCGTCGTCAATGTAGATGCGGCCCCCCAGACAATATTGGGGTAGTCCACCCACACGGTGTTCGCGTTCCCCCGCGTCCGGAACGCGGGGTCCACAGTCACCAGCACCTGGGAGCCCTTCACCAGCTCCACTTCCGACTCTGGACCCTAAGGAGGGAGCCAGAGGAGATGTGAGTTCTGAGCCCCGGAGTCCGGGACCCGCCCCTGCCCACGCCTGGGCCCAACCCTACAGGCGCCGCCTTTCCGGCCCTGGCCCAGCGAGTCCCAGCCCCACTGCTCACCCCCTGCAGGATCCCAGTGCGGATCTCCGGTCCCTTGGTGTCCAGGGCGATGGCCACGGGCCGGTAGCTGAGTGGGGAACCTGCAAAGCTCTCCACCGCCTCCCGGACGTTGGCGATGGACTCAGCATGGTACTGGGGGAGGGAGCGGAGCGAGGGTTTCAGGGGAAGGTGGCCAGGACCTCGAGGCATCCTCCTGCCCCACCCACTGCCCGGCGGCCCGTCCCGCACCTCGTGGGAGCCGTGGGAGAAGTTGAGTCGCGCAATGTTCATCCCGGCCTTGATCATCTCCTTGAGGCGCTCCACGGAGCGAGATGCTGGCCCTAGAACCAGAGATTCACGTTCAGACAACGTTCCCCCAGAACATGAGAGGCAACCAAACCCAACCCATTACCATTCTCAGAACGCCTCACGCCACAGGCGTCCTGTTACCTGATCTTTATTCCCTGATGCAACCCCTGCCCACAGATCACAGACTCCCCTTCCCTCTCAAGCCAACATCCATCCCCTTGGGGAGGCAGCAGTGTGGAAATCGGAGGGGAGTGCCCTCCGCCAGGCCTGAGGTCACTGTATGGGCATGTATGGGCACTGTATGGGCATGGGTATGTAAGTGCTGCTTGCCCGGCTACCCCAGGGTATGGGGTGTAGGGCAGGGGCTGGGAGCCAGGTGAGGGCGTTTGGGTGCGGGCTTTTAGAGCTAGGAGGCCTCATGGACTGAGGAGAGCTGAGTTCTATCCCATGCCTGCACTGCTATGGGGCAGCTGCTAGCCGAGAGCAGGTTGGCTCATTCTTCGGTCCCTATCTGTCTTTCCACTTGTGCACTAGGTCTCCTCCTTCTCACCTGCTCAAGGACATAAATTAAGCCATTCTGTGGTCCTCTGTGACACCCATGTTTTCCTTTTCTTTTTCTTTCTTTTTTTTTGAGACGGGGGGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTCACTGCAACCTCTGCCTCCCCAGTTCAAGTGATTATCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGTTGGTCTTGAACTCTTGACCTCAGGTGATCCATCCACCTCGCCCTCCCAAAATGCTGGGATTACAGGTGTGAGTCACCGTGCCCAGCCATGTTTTCCTTTTTTACTGGATCATCCCCATCCGCAGGTAAACCTACTGTTATTTCTTTCATCATTAAAAAAAAATTCTCTTAATCTCCTGGTTTCCCCTCAGTCCCAGTATTTGCTCTCACTTGCAGCAAAACTCATCGCAAGAGTTATCTGTACTTGCTACCTCTAGTTCCCCTCCCCCATTCTCCCTTGAACCCACCCCACTCAGGCGTTGGCCTCCATCTCTCCACTGCATCTGTTCTTGTCAAGGTCACCAAGAACCTCTGTGTTTTTGCTCCATGTAATGCTCAATGCTCAGTCCTCCTCTATTGGCCCATCAGCAGCCTGAACATACATCCTTCTTTGACACACTGTCTTCACCTGACCTCCAGGGCTGCACCCTCTCTTGGTTGACTCCTACCTCACTAGCTGCTCTTTCCCAGTCTCCTTTCCTTGTTCCTCCCCTTAACGTTAGATACCCTGTTCTCTTCTCCGTCATTTCACCTACACTCCTTTGGTGGTCTCAACTAGTCTCATGGCTTGAGATACCATCTATATGTAGCCAACTCCCAAATGTCTCTCCAATCCAGACCTTTNNNNNNNNNNNNN	pathogenic	15,471
Considering the variant on chromosome 1, location 155477966, involving gene ASH1L (ASH1 like histone lysine methyltransferase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['ASH1L-related_disorder', 'Intellectual_disability,_autosomal_dominant_52']	ACCTCCTCTACTATAATCTCCATGACTCAATGAACCTGTGTGCCTCATTCTCTATTATATAACAAGGGCCCACAAAGTAGAATGCCTGGTAAATACCTGATATTCAGTAACTATTACTGATTAAATAAACTATTTGTTGAATGGACCTAAGCATAAGACTTTTTCTCTCTTTACGTTGTTAAAAGCTGGCCGGGTGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTGTTTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCT	ACCTCCTCTACTATAATCTCCATGACTCAATGAACCTGTGTGCCTCATTCTCTATTATATAACAAGGGCCCACAAAGTAGAATGCCTGGTAAATACCTGATATTCAGTAACTATTACTGATTAAATAAACTATTTGTTGAATGGACCTAAGCATAAGACTTTTTCTCTCTTTACGTTGTTAAAAGCTGGCCGGGTGCAGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTGTTTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTNN	pathogenic	15,494
Variant at chromosome 1, position 155478215, gene ASH1L (ASH1 like histone lysine methyltransferase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Intellectual_disability,_autosomal_dominant_52']	ACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTGTTTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGG	ACGAGGTCAGGAGTTCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAGAAATATAAAAAACTAGCCGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCGGGAGGGTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCGTCTCAAAATAAAAAAATGAATAAATAAATAAACACTGTTAAAAGCTAAGGAACACTCAGATTCTCCACTAAGTTTTAATTTTTCAAAAGTTCATGAATAATGAAAATCAGGAACAAAAACTCTTTGTATTCGAGGGGTTTATCTTTTCCCTAATACACAAGTCTTTTTTTGTTTTTTGTTTTTTTTTTAAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCACCTCCAGAGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAAGCGCCTGCCACCATGCCTGGCTAATTTTTTTTGTATTTTAAGTAGAGATGGGGTTTCATCGTGTTAACCAGGATGGTCTCGATCTCTTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGCACTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTAATGCACAAGTTTTTAATCTTTTAGGGGAATAATAATAATAACTAATATTTGCATGCTTACTATGTGATTACTTTTCATAATACCCCTACAAATCCCATTATATAGGAGGTTTAGAGAATATACTGAGGTTTAGAGAATTTACTTGGAAAATCTGATGAAATTTTTCTAGATTATCACTAAAAAAGATGCACAAACATATATACCCGTAATTTTACTTACAACATCAGAGGGTTTATGGACTTCCTAGAGTTATTTTACAAACTCTTAGGCTTAAGATCTCTCACAAAGAACTTCTAATCTTTTATTCGAGTGGCAAATGCTTACTCTTTGTTTTCTATCTTCTCAATTCTTAAAAGGTGTATAATTAAGAGAGAAAAAGATGTACAATTCTTTCTAGATGTACAAATGCATTTTCCAGATTTCTTTTTTTTCTATCTAATTGAAGCAGCTTTTATGAAAACATCAAAAGGTATGCTGCAAAATGAAGTCTGTCTGAATGAATATTCAGTTAAATTTTACAATGCTGAAAATGTCCAATGTTTGAATTTTTATTATGAGACATACAGTATTAATAACATATTCTTCCTGTAACAAAGATGCATTTATAACTACTGGATTAATATACATTAAAAATCCTTCCAGCATTACCTTTTACCTCTTGGGGTGGTGGGGGCAGGGGGTGGTGGGAGATCCTGCATACTACTAACAGACCTATGAGCCATTTGTCTTTATAAAAATTGTGTAATAACCTGTCTACATAAAAAAGATGAATGATTTTTCCTGGTTTCCAAAAGTTATGTATATTTCTTTCTTTTTTTCTTTTTGACAATAGCTCTTCTCAAAACAAAAAAATAATATAGACATTCCCTACTTCTTAAATCTTAAGGAAAAGGAATACTGAGATTTCAAAATACACTTATTAAAAAACAAAAAAAGATATATATATTAAAAGTTCATCTACATTTATCAGGCACCTGTGGAAAATAACCTATTTCTTTAACAAATAACAGGTAACAAAATAACCCTCTTACCTGCCAAAGTCTGTACTGCCCTTTCGTTAGAAGGCAGTGACTCCTTTCTGTGAAGCCGATTTAGTGAAGTGTCCTGTGCAGAAAAGAGTCCAGGGCTGTCAGTTAATTTCTTCCGGCCACTGGAGTTAGGGTTTGAAACTCTGCAGCTGCCTATTGCACTTGTGAAAAGGTTTGTATGTTCATCACTGCTGGCTGGCTCAGAGTTGGGAGTGAATCCTCCAAGGGATAAGCTTGGAGAACTTTCTGAACAGTCAATCTGTAAAGGTGTCTGCAATCCCAAGGCCAATGGACTAGATTCTGAAGGCTCTCGGTGGACCCACTGTTCCTCTCTATTAAGCTTTTTGAAGGAGAGAGATGAGGGCAGGACATGTGACAACGGTGCTTTTCCTTATGCTTATATCGCTCTCCAACAGCATCCTTTCCAAATCTATAGCGCTTCAAAGATTCCAGGACAGATCGGGAAGAGCCAGTGTCCATAGAAACCTGGGGTTGTTCAGAAGAACGGTGTTCTCTGTGTTTGTGACGGTGCCTGTGTTTGTGCTCAACCATCCAACCATAGGCCATCTCAGGAGGAACACTGGGGTAGGTACTCATGGAAAGGAGGGGAGTCCTGCTGGTTGTAAGAAAGGCCTCCTGTCGAAGTAGCTTATGCTTTTTCTTATGGTATTTGGCAGGATTGAGAAGTAAATGACCAGCATGCATATAGGAAGGAGGTGGAAGTGGCGTGGTGAAAGAAGGAGATGGAGGAGGTGGATAAAGAGTGGGAGGATACCTTCCATAGTAACCTAATCCTATGGGAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGNNNN	pathogenic	15,497
Gene ASH1L (ASH1 like histone lysine methyltransferase) variant at chromosome 1, position 155480735—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Intellectual_disability,_autosomal_dominant_52']	GAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGCCACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTACTTTCATCTTACTTTTGACTGGGTAAATATAAATG	GAGCAGCTGTAAGGGGTGAAGGAGAGTAAGGCATACCATAAGATGGATAGAATCCAGTACTAGAAAGAGGAAAACTAAGGCTGTGCATAAAAGGCATTTCAGCCATTGCCTCCCTCATCTTAGGGGGTCTCCCTCTTTTCTTTTTTAAGTCAGGTTTTCGAATGTAGTGCAAAGGGTCTAAGGGGAAAGAAGGATGTGTATAGAAACTATTAAAGTTGATTCGAAAGATAGTTGGCAGAAGATCTCGGGGGATAAAATGATGACTTCGATGAGTGATCCGAATTTCACTTAGGCGACTTATTAGTTCCTCCAGCTCTGCAATAAAGTCTGGATCCTGTCTATTTCGAAGCTGGGGATATTTCTTTTTCCGTTTTCGTTTCTGCCTTTTCATCTTGTCATAGCTGAGGTAATCATGATTCCTGCGCTTACATTTGTGTTTATGTTTTTCTTTAAGACTGCTTAGCACTGTAGAGGTTTCAGGGGGAATCAGAGAAACATGCTCAAAAGAATGCCTCCTCTTTTTTTGCCCACAAAATTTCTCTGCCCTGTCTGATGTGCTGTTATTATCTGTTCCAATTCCACTATCACTGGGAATGGTCTCATCACTATGAGACTCACTGATTGGGGAAGGAGTAGCTTCTTTTAGAGATGTGAGTTCACTCAAGTGCGAAGGAGAATTTGGCAACAAAGTAGGAGGAGATAACCGCCTCCTCCCCTTTGAGGCCTTCTTCATTGCAAGAGTCTGAATCATACTGCCCTGTCTGGAGTGTAAATGCAAATATGGCACTGAACTGGGTTCAACAAAACCTGCATCACTACTTACAGGGCTCTGACCTCCACTAGTCCCAGAAGACTGAGAGCAAATAGGTGATGGAAGAATCTCAGAACTACTAGCAGATGAAGGCAGTAATGGGGGAAGAATCTGTCCTAATGCTGACCCAGCTGCCTGTTGAGCTGTTTGCTCAAGAACAGCAAGGCTAGTAGGACTACCAGAAAGAATACCATTTAAGACAGTTTTTGGTTTGCGACCTCTTCTCTTTCCTATATAAATGGTTCCTTTCTTGCTGACATTTATCTGTTGGCCCAATTTAGAGCCAAATGTGGCAGCAAGACTTGATACCGTATTATGGAGTTTGGATTGCACTTTCCCTTTATTACTTGATTCTACAGAACTTGAAAGAATCTGATTCAACAGTTTCTTTCTCTTTAAAGTCTTCATTTTATTTATTTTGCGGATAATTGTTTTCATTAATTGTCCATTGTTTCTCTTGGTAATTTTTTTATCTGGTTCCATCTCAAGGTCACTCATACTACAGACACTTGGCCTATGACTGTCATCTAGGTCATCTGGATCCTGAAGTTGATCCTCGCTCTCAAAGAAATCACTGCTACTTCTATGGTTGTCACTTTCAGATTCTAGCTTGCTTGGACTTTCAGTGGCAACAAATGGAGCCACTGACAGTACAGGTGGCTTCATCTTGACTGGTGACCTCATTTGCCTCTTAGGCCTGCCTCTCTTTTTTGGAAAAGGAGACACAGACAGACCTTGTTTGAAGGAAGGGATTTCAATTTCTGGCTGTAAAATTGGGGGTTCTTGTTCTTCCTTAGACTGTAAAGAAAACACTTTAGAAGCAGGGATTTTTAAAGTCCTTTTAGGTGGCCCTTCCAGTTGAGGCATCTCCTTAGATTTAGGCCTTCCTCTTTTGGGCTTATAAATATCAGACAAAAGGTCACTAGAGACACACATACTGGAGGATAGTTTGTGAGTAGCAAAAGACTTATGAGATGGTTTTTCACTATCAGCTAAGAGAGCAAGAGATGGAGCTGTGGATTTGCTCAACTTTGGCAATCGGCGTTTAAGGAAGTCATGATCTACAAATGAAGGGGGTCCAATGTTTTTCATAAACTTGGCTGGCTCAGAATTACTATTTGATAGTGAGCTACATGAAACGTTTTTAAAAAGCTCTGATCTTTCTAATTCTAGCCCTTTTGGAGACCGGCATGTGCTTCTTGCCACCACTTTAGTCCACCGAGGTTTTCTTCCTTTTCTTTTTTTTTAATGGTTTGGACTGCAAACTAGTACTTAGGCTTTCAGCAACTTGGCAGTGTTTGTCTGATGCAGATACTGCACCCAGTTTTAAAAAAGGCTTATTACTAAATAAACTAGTGAAGTTAACAACTGAAGGAGTAATAGTATGAATGCTGGATTCAGAAGTCAAACTTGGCTTTTTTCCAAGGGAAGAGCTTATTCTTGGAATATCTATATGGGTAGTTTTTGAATCATTTACCTCTTTATCAATCCCTTTACATTCAATACTTATACTATGACCAACTGACCTATGACCAACGTTCAAGTGGGTACTTTCAGAAGTAAACTGGTTCTTTCCAACAGATTCAGAAATTTCTTCGATTAGTTCTGTAGTAGAACTTAAAAGTAATGGATTAGGAGCCAACTGTGAAGAAGTTTCAGGGGGACTTCTGGTTAAAGGATTAACAGATACAGTAGGTGATGGGGAAGGGAGATTGCTTTCTCCTACTGCACTGAATGGGGATTTAGCGGTAGATACATCAGAAGCACCTCCCATTTTAAAGTCCGGAGAAGTGCAATATACAGGAGGCTGCTTTTCATGCTTTGAGGTTTCATAAGATCCCTTTTCACTGGATGAGAAACTGTCTTGCTGAATGCATGTTCCTTCATTAAACATTTCTTTCTCCAAATTAATGATTTCTTTTCGTACTGAGAACTTTTCCAATATGCTTTCTTTATTCTGCCGTACAACATTCTTTTCAAAAGTTTTGCTGGTGGCACTATCTTTCAGGGATTCAGAAAGTTCCTGACTTTCCTGATTATTGATGTTTGTACTACAAGAAGCCTTAAGCGGTTCCTGAGTGGGGAGCAGTGCTTCGGCTTTAAGGTTTATGGCATCTTTACTGATCAGACCTGCCAAAGGACAACTCATTAGTTTCTTTCCAATGTCCTTATTAACCAATCCCATTGCTGAACTTGCTACAATCTTCTTTGCACAGTCCTTGGCCACTAGGCCAACAGTAGAACCCAATTTCTTTCCCAAATCTTTATTAACCAGTCCAACCACAGTGCCAAGTCCTAACTTCTTGCCAGACTCTTTATGCACTAAACCTGGAACAATACCAATTCCTAGCTTCTTTCCTGAATCTTTGCTTAGCAGTCCTACTGTAGTGATAGTTCCTGGCTTTTTGCCTAAGTTTTTATTAATGAATACCGCTGTAGTGCCAGTTCCCAGTTTTTTCACAGAGTCCTTATTGACCAATCCTACTGCTGCATTAAACACTGGCTTTTTCCCAGGATCTTTAGTTACCAATCCAACTGCTGTGCTGATGGTTGGCTTTTTTATTAAGTCCTTATGTATTATTCCAGCTACAGAGCCAACACCTGCTTTCCTGATCAAATCCTTGCTAACCAATCCTGCTGTAGTGCCAGTTCCTAACTTCTTCGGTTTTGTCTTGGAAGACTTGGAAGGAGGACAGGTAGCAATCAGCTGTGCCAACTTTTCTGTTACACTAGTTCCTCCATTAAGTAATGCTCTGTCCTTTAAATCAGGATCCCGGCTACCAAGAAGAGTAGATGGCGTTGCATTAATATAATCTGCCATTTCTGAGTGTACTGGAGACAGCTTCTTAGACAAAGGATTGTTTTCTCCCTGTGAATGAAGACGGATGACTTCTTCAGACTGGCATTCAATGGCTGCAACATCATCTGCTTTCTTGTACAACTTTGAAGGGTCCTAAAATTTGAACAAGAAAAAAGTTAAAGAGGGAGTAAACCTTACACCACTTTAGCTTAGCTTAACAATCCAACAAACTAATGGATCACATATCAGATAAACAATAGGCAACAGTGGTTTTTAAAAAACCTAATATTATACTTATGTCACAGTATGTTAGCTCATCTGCTGCTATACGAGAGGCTATCATGGTATATTATCTTTGTTGACTTTCAACACGATAAAACTATACATTAGAGGGTCTTTAGAAATATCCCTGATATTTTTGACATTTTTTAAATGGCAAATCAATAGTCTACTTTCATCTTACTTTTGACTGGGTAAATATAAAT	pathogenic	15,503
Does the chromosome 1 mutation at position 155612490 within gene MSTO1 (misato mitochondrial distribution and morphology regulator 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Inborn_genetic_diseases', 'Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome']	AGCGACCGATTCCAAGGAGCCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAGGAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGGGTGAGGTGGTGGCAGAGTTAGCCGATGCCCCTTATTTCCCTTCCGCGTGCCTAGTCCTTGCGCTGCCGTTATCTTCAAGACCCTCCCACCTTACCGAGCTCCAGGACCGGAGATGAGGAGCTGAGCACAACATGCCAACACTCGAGGGGCCCACGACAGTTGCTCAAGAGCCATTTCGGGAATAGGCTGCTAGGCCCTGGAGACAGTGAGGACTTGAACTGCAGCACTCCTGTCAGACCCCTGGATGTGGTTCCCCCCGCGTCCCACAGCTAATGACTAAGCTGGGAACCGAAAGATGGAATCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATG	AGCGACCGATTCCAAGGAGCCCCCGGGAGAGCTGTGCCCCGACGTCCTGTATCGTACGGGCCGGACGCTGCACGGCCAGGAGACCTACACGCCGCGACTCATCCTCATGGATCTGAAGGGTGAGGTGGTGGCAGAGTTAGCCGATGCCCCTTATTTCCCTTCCGCGTGCCTAGTCCTTGCGCTGCCGTTATCTTCAAGACCCTCCCACCTTACCGAGCTCCAGGACCGGAGATGAGGAGCTGAGCACAACATGCCAACACTCGAGGGGCCCACGACAGTTGCTCAAGAGCCATTTCGGGAATAGGCTGCTAGGCCCTGGAGACAGTGAGGACTTGAACTGCAGCACTCCTGTCAGACCCCTGGATGTGGTTCCCCCCGCGTCCCACAGCTAATGACTAAGCTGGGAACCGAAAGATGGAATCTAGATTCTCCTAAGCCAAGGTTTTTCCCCCAACTAGTGTATATCCCAGAAAGCTTGGAAGAGCCAAGTGCTGGAGAGATGGTGACAGCAGGTTGTCAGGTGATCAGAGGAAGGTTAGCTAGAGGGGAAGGGTGCCCAGGCTTTGACCTAACATTGTCTCTGTTATTTCTGTACAGGTAGTTTGAGCTCCCTAAAAGAGGAAGGTGGACTCTACAGGGACAAACAGTTGGATGCTGCAATAGCATGGTGTGTAACTGATGTATGGATAAGGGTGGGGATCGTGTATGTACGCAGAACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGNN	pathogenic	15,523
Mutation at chromosome 1, position 155613205, within MSTO1 (misato mitochondrial distribution and morphology regulator 1): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Mitochondrial_myopathy-cerebellar_ataxia-pigmentary_retinopathy_syndrome']	AACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAGCCCTATCTCTACTAAAAATAGAAAAATTGGCTGGGTGGTGGGCACCTGTAATCCCAGCCACTCGAGAGGCTGAGGCAG	AACGCTGGATAACTCTGATCAGAGTGCAGTTTCTTTGATCAATCTCCAAACTCTTTCAGGCAGGGGAAGCTCACCACACACAAAGAGGAACTCTATCCCAAGAACCCTTATCTCCAAGACTTTCTGAGTGCAGAGGTGAGGGCCTCTGTCCTGAACTTTTTAACCCGGTGCCACAACCCGAGGGTCTCCATAGGGGCAGGTAAACGGGGATTTTAATCATTTTAAGTGTCTTAGAATGATATTTTGGGAAAAAGCACTCCTTTTCCTAAGGACTGCGACTCGGTGAACAGAAAGGAGGCTATGCGGTGTGGCCAGCCAACTCAAGGAGGACGAAGCAACCTTTGCCTCTAAACTGCCTGGAACTAAATGTCGATTTTTCTGACCCCTCCCAGGGAGTGCTGAGTAGTGATGGTGTCTGGAGGGTCAAATCCATTCCCAATGGCAAAGGTGAGACTTCTCCAGATACTGATGGATGGGGGCTTGGGTAGAGCAGAAACATGGAGAAAGGTACATTTCCTCTGCTTGTCTTCAGGTTCCTCACCACTCCCCACCGCTACAACTCCAAAACCACTTATCCCTACAGAGGCCAGCATCAGGGTCTGGTCAGACTTCCTCAGAGTCCATCTCCATCCCCGGAGCATCTGTATGATTCAGAAGTACAACCACGATGGGTATGGGGACCCCAGAGGCTTTGAGGCAAGAAACATGGGTCCCCACCAATGCAGGATGAGGCTCTTGAGGCCATCTTCCCTGCCCTTCCCCAGGACAAGAGGCTGAGGAGTTGAGGGAAGAGATGTAAGTCTTGGATCATGTTTACTTGTGGCAGGGAAGCAGGTCGGCTGGAGGCTTTTGGCCAAGGGGAAAGTGTCCTAAAGGAACCCAAGTACCAGGAAGAGCTGGAGGACAGGCTGCATTTCTACGTGGAGGAATGTGACTACTTGCAGGTAGTGGCGTGGCAATGTGCACTCCAGGGTGGAAGCTCTTCTCATCCTGCTAACTATCTTTTGTCACTCACCCCCGTCCAGGGCTTCCAGATCCTGTGTGACCTGCACGATGGCTTCTCTGGGGTAGGCGCGAAGGCGGCAGAGCTGCTACAAGATGAATATTCAGGGCGGGGAATAATAACCTGGGGCCTGCTACCTGGTCCCTACCATCGTGGGGTGAGTGGAACTTAGAGAAGTAAACAGTCACACAGTGGGGAGGGAGAAATCAGAATCCCAGTGGGAGAGCTGCTTAATACAAACTACTCTTTCTTCACCAGGAGGCCCAGAGAAACATCTATCGTCTATTAAACACAGCTTTTGGTCTCGTGCACCTGACTGCTCACAGCTCTCTTGTCTGCCCCTTGTCCTTGGGTGGGAGCCTGGGCCTGCGACCCGAGCCACCTGTCAGCTTCCCTTACCTGCATTATGATGTAAGTCTCGGTGCTCTTGTTCTGACTGCGGCAGGCTACAGGGCCTCCTCATGCTCCCAGTCAGCCGCTGTCTGTTACTGGCTCTGTTCTTGAGGCCCGAGCTTGAACTCAGCTGTGATGTGGCCTCTCAGATCACACTGTCCTATGCTTGTCCAGCCTGGGGTCAAACATACCCCTGATTCGTCCCCTGGGTCTCTCTGGTGTTAATATTCTGCCTCCACACATTCTTTTCCAGGCCTGAGGCCAAGTGCCCATCTTGGTGTCTTCTTACAGGCCACTCTGCCCTTCCACTGCAGTGCCATCCTGGCTACAGCCCTGGACACAGTCACTGTTCCTTATCGCCTGTGTTCCTCTCCAGTTTCCATGGTTCATCTGGCTGACATGCTGAGCTTCTGTGGGAAAAAGGTATGAAGCTTTGTAAGGGGTTGGGTCAGTGCTGAGAAAATGTCCTATAACGTGTTCTCTTCCATCTCTTTAGGTGGTGACAGCAGGAGCAATCATCCCTTTCCCCTTGGCTCCAGGCCAGTCCCTTCCTGATTCCCTGATGCAGTTTGGAGGAGCCACCCCATGGACCCCACTGTCTGCATGTGGGGAGCCTTCTGGAACACGTTGCTTTGCCCAGTCAGTGGTGCTGAGGGTATAGACAGAGCATGCCACACAAGGTGAGAGCTGTTGGTCCTTAGGAGTCCTTGTCAGATTTTTGTCTCATATCCATCTTCCCCTAATTTCTCTGGGGCATTCTAATGATACTGTTCCCTCCCCACCCCTTAAAAAGGAAAAAAAAAAGGGCTTTGAATATCTTGATCCAGCTGATGGCCTGAGAACATAAGAATTCTGTTTCTTATTCATGCAGCCACAGACTAATGGTGGTTTTGGCTTTGTTCTGGCAGCCAGCTCACCCCAGGGACACCTCCACCCTCTGCCCTTCATGCATGTACCACTGGGGAAGAAATCTTGGCTCAGTATTTACAACAGCAGCAGCCTGGAGTCATGAGGTCAGTGTAACGGTTGCTCCTGCCCTTCTTGCCAACCGCAACCCTCCCTTGACTTCTTACGCACTTAATGGCTGTTCTCTGCCCCCACAGTTCTTCCCATCTGCTGCTGACTCCCTGCAGGGTGGCTCCTCCTTACCCCCACCTCTTCTCAAGCTGCAGTCCACCGGGTATGGTTCTGGATGGTTCCCCCAAGGGAGCAGGTATGTAGGAGGTGAAGAAAACTGAGATTTCAAGTATGGGAGAGTTTTTACTATCTCCATTCCTGGATTAAAAGTGCTGAAAAAGTCCACAGTTAAACATTCCTTTATTCACCCTATGGCTCCCAAGAAAAGCATTCTTCCTCTGGAGTACTGGTGTACTAAGGGGACAATACACCAAATTTGTTGAGTTTACAATCAAGTCTACTAAGGTTGGACTTCCTTATCAGTTTGGCAGAGTCCCAGGGCAGAATAATCATCCATCTACAGGTCTCTGTTTCCTCTCCCTCCACAGCAGTGGAGAGCATCCCAGTGTTTGGGGCACTGTGTTCCTCTTCGTCCCTGCACCAGACCCTGGAAGCCTTGGCCAGAGACCTCACCAAACTCGACTTGCGGCGCTGGGCCAGCTTCATGGATGCTGGAGTGGAGCACGATGACGTAGCAGAGCTGCTGCAGGAGCTACAAAGCCTGGCCCAGTGCTACCAGGGTGGTGACAGCCTCGTGGACTAAAGTTCCCAGTGTGGGAGAAAGGAGCTAGTTTGCAATAAAAACAGCTGGATGCAGGAGCCCAGTGTCTTCATGCAGAGGAGCTCAATGTCGCGGGACTAGCTACACCAACATATGCACTTTTTACATTTAGAAACACTGTGATTAGACCACAGAACAATAAATATGTGCCATCAGACCAAAAAAAAGTAGAGAAAGGAGCTGAACTCCACTCTCGATGCTACTTACAGAGGACATCTGTAAAGTCTTCATAAAAGACCTTGAATGATGCCTAGGATGGCAGAGCCCCTGGGTCCTACTCCATCCTCCAGCCTTTGTCCTTGTCCTGGCCTCCTGCTCTCCAGATCTGTAAACTGGGCTCAAGGACTGTACAAGCAGAGTACAACTACCCGCCTCCCCGGTGCCAGGGCGCCTGTTGGGTTTGGTCCTGTGTAGATGATTCCCAGAGTCTCATTCATCCAGCTCCTCTTCAGACAGAAGGTCCCCATGGTCAGACAGCTGGTCTGCATTGCTGGTACTGGTTGCATCATCCTCATCCTCAGAGCTGGCTTCACAGGCAGTGTGGAAGAGCTGCATGAGTTCTCGAAAATGGTGGGAAACCTAAGAAAGGAGGAGGGCTGTATTCACTGATCCTTAGTAACATGTTAACATTTATGAAGCACTATATATTGATTTGCAAAATCTTTTGTTTATTCCACACAGCAAGGTTGAGAGAGCTATGTCACTATAGATAAGGAAACTCAAGAGGCTAAATGTTTTGCCCAAAGTCACACGACTCCTAAAAACAAAACTAGAATGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAGCCCTATCTCTACTAAAAATAGAAAAATTGGCTGGGTGGTGGGCACCTGTAATCCCAGCCACTCGAGAGGCTGAGGCAGN	pathogenic	15,525
Regarding the variant found on chromosome 1 at position 155904718 in gene RIT1 (Ras like without CAAX 1): is it benign or pathogenic? If pathogenic, identify the disease(s).	benign	CGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAA	CGTCTCTACTAAAATACAAAAATTAGCTGGATGTGGTGGCAGGCACATGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGTCAGAGAGGTTGCAGTGAGCCTAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAACAACAAAATTAAAATAAAAATTAAAAAAAAAGAAAGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTTAAAAATACAAAAATTAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCTGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCACTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGACACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCAGAGATCGTGCCACTGCACGCCAGCCTGGGCGACAGACAAGACTCCGTCTCAAAAAAAAATTAGCCGGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGACTCACTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCAAGGCAACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAACACAAAGGGAGGGAAAGAGATATATGCTTACACTAAAATATTGAAAACTATTAGGAGCCCATAATTGATACATCTAATTATGGATATGCCATAATTTCTACTTTTGGACAGCTAGATTGTTTCTCATTTTCTTCTACCATAAATAGTCTTGCAATGAACATGTTATATATAAATCCCTATAAATTTTTTCCAATGGAGATTAACAGAGAAGCATTATGAATTTGACTACTATCAAACTACTTCCAGCCAGGCGCTGTGGCTCACACTTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGTCCAGGTGTTCAAGATCAGCCTGGGCAACATAGTGAGATCCTGTCTCCACAAAAAGTAAAAACAATTAGCTGGGAGTGGTGGCACACGCCTGTGGTCCCAGCTACCCTCAAAGCTGAACTGGGATGATTGCTTGAGCTGGGGAGGTAGAGGCTGCAGTAAGCTGTAGCCCCAACCTCACTGCAACCTCCACCTCCCCAGGTCAAGGGATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACCACATGTGCATGCACCACTATGCCCAGCTATGTTTTTTTGTATTTTTTGTAGAGATGGGGTTTCGCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTAAGCAACCTGCCCACCTTGGCCCCGCAAAGTACTGGTGTGAGCCACCTCACCCAGCCTGATTTTCTATTTTAAGGCAAAAAAATCTGTAAGCCAAGCCAAGAATCTGTAAGCCAAGAAACAAAAATGACTAATTGTATAAGATTATAGACAGTATTTTCTTCTCTATCCTCACCTGTCTTAGCTGTTTGAGGTCTGACTTGTTTCCCACAAGAACCACAGGTGTATCGTCAGTACGTCGGACTCGATAAATAAGCTGTTTAAACTCACGAACTTCATGGAAACTTCGACGATCCGTGATAGAGTAACAGATGATAAACCCTTCTCCTGCCCTCATATACTGGTCCCGCATGGCTGTAAACTCTGCCTAGAGGGAAACAAGGGTCATTATGTATTGACGCAATCTAGCCCAACTACACACACAATTAGCTATTTCTTTCAGATTAAAGAAAACGCATGTCGATTACCTGCTATCCTGAGTCAGAGTGCATGAAAAATTAAGAGAGATAAACTATTGATCTTCTCTGTGTAGGCCTTCCCCTCCCCTTTGCTAGAGTAAAAAAGCCTTTACTCATAACATTCTGGATTTAATACCTGTCCAGCTGTATCCAAAATGTCCAGATTGGCAGGCTCATCATCAATACGGATCCTGATCTTATAAGCATCTTCTACAGGAGGGAAGAAAGGTGTACTATAAAGTCATAAATGCCGGAAGAAATGCCTATTTAAAACTCATCTTACAGAGTAGTACATTGTATCCAAATTCATTAAATGCCCACATTTTCTCAGGAAGCATGCTAAATCCACTGAGATACATAAACTGAGTCTTCAACTGAAGTTTTTTTTTCCACATAGGTGATGATGTAGTTTATTCACAGCTGAAGATTTCACCTACAATTCTAAGCTAAAAAAGGATTCTGAGAAGATGTCTTTCTTAAAAAAATTAGGCTATCTGGGCACAGTGGTGACTGCCTATAATCCCAGCTACTTGGGAGACTGAGACAGGAGTATTGTTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAACAGCTCATCTTTTTTTTTTTTTCTTGAGACAGGGTCTCACTGTCACCCAGGCTGGAGTGCAGTGGTGCAATTTCGGTTCACTGTAGCCTTGACTTCCCAGGCTCCAGTGATTCTCCCACCTTGGCCTCCCAAGTAGCTGGAACTACAGGCGTGCTACCACCATGTCTGGCTAATTTTTTTGTATTTTTGGTAGACATAGGATTTTGCAATGTTGTCCAGGCTAGTCTCGAACTCCTGGGTTGAAACAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGTATTACAGGTGTGGGCCACTGCACTCAGCCGAGACCCCATCTCTTAGGGGAAAAAAAAAATTAGGCCTGAAAAGTAACTTTACCATTTATTAAATTGTTATTATCTACCAGACATTATACTAAGTAACTTATATATATTAATTCTTCAATAATCACAATAATCCAATGAAGTAGGCATTATTACCTCCATTTTACAGCTAAAGAAAATTCAACTTGAAAATATTAATGTCTTCTCTAAATTAGTTAATTAGTGACAGAATGAGGATTAAAATCCAAGATTGCTGAACTGAAAAGCATTATTAACCATGTGTTATACTTCCTCCTCAATACTACAAAAAAGGAAAAAAATATATAATTCACTATTTTTTTTTTTTTTGAGACAGGCTCTCACTCTATCACCCAGACTGGAGTGCAGTGGCATGATCTCGGCTCACCACAACTTCTGCCTCCCAGGCTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACATGCCACTATTGCCCGGCTAATTTTTGTATTTTTAGTATAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAATGATCCACCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCGGTCTAACTGACTATTTTCTAAATAATCCACAGTTTCGTAATTTCTCTTTTCTGAAAGCAAATTTCTTTATGCATATTACTATAGTAACCTTGGAAAATATAGAAAACTAAAAAGAAAAAAAAAGCCACGCAATATTTCATTCACTTAACAACTGCTGCTTACATCTCAATGTATTTCCTTTTAACATTTTTTCTTGAATTCCTGCTTCTGTCTCTTCCTCAAAGATGAAGAGCTCATTAAATCAATGCTTCTCAATTATTCATTAGGATTAGTGAGTTGTGAAATCTACTTAATGGGCCGGGACCAGCATTAAAATAAACAAGCAGAAACCTAAATAAAAATAGAAAATACCAGGCCAGGCACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAATGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTATCTGGATGTGGTCACAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGGACTCTAGCCTGGGCAACAGGAGTGAAATTCTCCGTCTCAAAN	benign	15,589
Does the variant on chromosome 1 at location 156114922 affecting gene LMNA (lamin A/C) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive', 'Familial_partial_lipodystrophy,_Dunnigan_type', 'Heart-hand_syndrome,_Slovenian_type', 'Hutchinson-Gilford_syndrome', 'Mandibuloacral_dysplasia_with_type_A_lipodystrophy', 'Restrictive_dermopathy_2']	GGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAA	GGAGCTGTACAAGGTAGCAACATAATTTGATTTCCCTGGTTGCTCATCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAN	pathogenic	15,640
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156114968, gene LMNA: what disease(s) if pathogenic?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	TCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAA	TCGGAGGATAAGCTGTGGGAGGCAGTTGGGCAGGGCATGCAGGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCA	pathogenic	15,647
Is the chromosome 1, position 156115009 variant in LMNA clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation']	GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAA	GGCAGATGGGACCCAGGCCTCAATGCTGTCACCTCTTAGAGAGGATAAGGTGGGACGGGCATGGTGGCTCACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAANNN	pathogenic	15,656
The mutation impacting LMNA (lamin A/C) on chromosome 1 at position 156115079: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Charcot-Marie-Tooth_disease_type_2']	ACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTC	ACATCTGTAATCCCAGAACTTTGGGAAGCTGAGGCAGGCAGATTACCTGAGGTCGGGAGTTTGAGACCAGTTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAAAATAAAAAAAAAATTAGCTGGGCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCNN	pathogenic	15,673
Variant in gene LMNA (lamin A/C), located at chromosome 1 position 156115211: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2']	GCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACG	GCTTGGTGGCAGGTGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGNN	pathogenic	15,686
Clinical classification of chromosome 1, position 156115251, gene LMNA (lamin A/C): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	CTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTG	CTGAGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAATAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTG	pathogenic	15,690
Regarding the variant at chromosome 1 and position 156115254, affecting gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2']	AGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGACC	AGGCAGGAGAATCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGAC	pathogenic	15,691
Variant on chromosome 1, at position 156115265, affecting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	TCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGACCTCAGGTCACTG	TCTCTTGAACCCGGGAGGTGGAGATTGCAATGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGTGAGAGAGCAAGACTTAATCTCAAAAAAACAAACAAACAAACAAAAAAAACAAACAAACAGAGGATGAGGTGGATGGTGGGACCAGGATAGGGGCCAGGATGAGGGGAGGGGAGTGGAAGGCTTATCAAAAGGGTCCTTGGTGAGGCCTGAGGATGGAGGCTCCAGAGCCTGAGGTAGCGAACCCTGGGGACCTGAGTGATCTCGTTTTGTGAGAGAGCCTGGCCCCTCCCCAGAGCCAGCTGCAGAATGGACCTGGCCAGAGAGGAAAGTAGAGATGAGTATGGTGCTGGCCTTTGCAGCCAGCAAGGCTGTGGGGTCTTTGCTGTTCCTGTCCCCCACTACCTTCTTGCCCCCCACTACCTTCTTTCTGGCTGAAACCAGGATAGAGACCCAATATTGGCTGTCCAGCCCCCAGCCCTGCTTCCCCTTTCAGGCCCCTCTGGGAACCACAGAAATCTGGGACCTAGTGTCTTGGCAACGTAATGAATGCATGCACAGCTCTGGTATCTGTTTTAAATTATCCATTAAAATAAGTACAGTTCTGGGGGAAAAAAATAAGTTGACTGGGTGCGGTAAGCAGTAGAAAGGGACTGAAGGGGGAAGGAACCCAGGCAGTGCTTGGGTCCAAAGGAAGGGGACAGGAGATGGAAGGGGCAGTGCCTGGCTCCTATTCTTGGCTTTCTTTAGGGGACTTCTTTAGGGGACTGTGGCTTGTTGCTTGGGTCTAAAAACGAATGCTTGGCTTTGAAGAGAGATAGATTGGGGCAAAAGAAAGAAAAAAAGGGACCCCCCAAACTCCTTGATCCCTGGCCCCAAACTGGGGGCATAAAGGAACTCAGGTTCCAGAACTTTGCTCCCCCCAGGGAACCCAGGCATTCCTTCTCCACCCCACTCCTGGCACACTGAGATGCAGCTCTGAATGGGCTGCCCACGTGTGGAGGGGGGTTGGGGTGACTCACTATTACTACTGGGAGGACAGGGGGAGCCAGTGGTGGAAGAAGGGTGAGTCACACTGATGGGCACCAGCCTCAGCCCTCCCCCCACTTTCCTGGCTCCCAGCCCTGCCTACCTGACCCTCTCCCTTGCTTTGCGCCCACTTCCCTCTCTTTCTCCCCGACCCTTTTGCCCACCCACTCTCCCTCCTTGGCTCTGCCCTCTAGCCCAGAAGGTCTGAGGCAATGGGGGCAAGCTTGGAGCCGACAGTGCTGAGCAGGCAGGAGCCAAGAGAGGGGAAGCTTGAGCCTCACGCAGTTAGGGGTGCGCTGGAGAGGGTGGGGCCCGACTCCGCCACACCCCAACGGTCCTTCCCCCTCCTCACCACTCCCGCCCCCACCCCCAATGGATCTGGGACTGCCCCTTTAAGAGTAGTGGCCCCTCCTCCCTTCAGAGGAGGACCTATTAGAGCCTTTGCCCCGGCGTCGGTGACTCAGTGTTCGCGGGAGCGCCGCACCTACACCAGCCAACCCAGATCCCGAGGTCCGACAGCGCCCGGCCCAGATCCCCACGCCTGCCAGGAGCAAGCCGAGAGCCAGCCGGCCGGCGCACTCCGACTCCGAGCAGTCTCTGTCCTTCGACCCGAGCCCCGCGCCCTTTCCGGGACCCCTGCCCCGCGGGCAGCGCTGCCAACCTGCCGGCCATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCGCTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGATCGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGCCTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCCTACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCCCGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGGAAAGCGCGGTGAGTTCGCCCAGGTGGCTGCGTGCCTGGCGGGGAGTGGAGAGGGCGGCGGGCCGGCGCCCCTGGCCGGCCGCAGGAAGGGAGTGAGAGGGCCTGGAGGCCGATAACTTTGCCATAGTCTCCTCCCTCCCCGGAACTGCCCCCAGCGGGTGACTGGCAGTGTCAAGGGGAATTGTCAAGACAGGACAGAGAGGGAAGTGGTGGTCTCTGGGAGAGGGTCGGGGAGGATATAAGGAATGGTGGGGGTATCAGGGACAAGTTGGGGCTGGGGCCGGCCTGAATTCGGTCAGATTGGGATTTGCCAACTATTTGGAGCCGGGGGGAGGGGCTTGAGCAAAACAGAACTAGCCCTGCCAGCTCGAAGAACTCTGGGCACCCAGGACACATCGGAGTGGCAGAAAGGGTCCTGTTAGAACTTTGTTAGCGGGCTTGGCACTGTGCTAGCTTTGCCCAAGCTGGCTCTGAACACATGATGCCCACTAAGACATAACTCTCAAGTTGGCATCTGTCCAGCGTGTTGGAGCGAGGTCAGGAAGGCAGGGCAATCCCCCTTTTCCCTCCCAAGGGCTTGGCGGTGGCCCCCCCTCAGCATGACCTTGTCCTGGGTTCTAAGGGTTGGGAAGTTCTCCCTCACTCTGCCACTCTGCGTGTCTGGGACCTTCCTTGGGCTCTGACAGGCCCACCAAAAGAGCTCCGGGAGATGAGAGATCGGCTCCCCCGCAGCTCCCACAGCCCTTGGCCTGCTTGGCCCAGGAATGCAAGGGAGGGAGGGAGGCAGAGGGCAGAGGCTCCCAGCTCAGGAAGTTGTGTTATGCCCAGGTCTGGCCGCACTCCTCCCTTGGCCCTCTGCCTAGTGTCTTCGAGGGTTGGGGGCACTGTCCTTCCCTCCTTGGGGTGAGCCACTTTCATTTTCCCAGCGGGGCCAGGCAGTCTTTGCTCGGGCCCATCCTCTTAGCTGCTGACGTTTTGATCTTTGTCTTATTGAAGTGCTGGAATACAGTGACATTTTTGAAATCCAGCCGTTGGAAGATTCAGGCCACTCCCACTTTACCCACCCCTGCCCCACCCTACCCCACCCTACTCAACTGCACCTTCTTCTTTTCTAAAAAAGCCTTTGGGAGCTTGGAAGTATAGGCCCTCTCTTCCAGCCCCATCAAAATTTGTTTCCCTTCTTCCTGCCTTCCCTTTCTCTATGCAGACCCAGGCCAAGAGCACTAAGGGTGCTTGGAGATCCGTAAAGGGCTGTTGGCTTTGACTTCTTCTCTCTCTTTTATCATCTACTCCAAACTTCTGCTCTTCCTAGAACCCTTTGCTAGGTGTGGTTTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTACAGGCATGTGCCACCATGCCGGGCTAATTTTGTATTTCTAGTAGAGATGGGGTTTCTCCATGTTCGTCAGGCTAGTCTTGAACTCCCAACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCACGCTGGGCCCATCACCCTTCTTTCTGAAGAGTCAATGGAAGTTGTGTGTAGGAAGACAGGCTTAACGGTTTTTTTTTGAGACAGGGTCTTACTCTGTCACCCAGACTGGAGTGAAGTGGTGCGATCTTGGCTCACCACAACCTCTGCCTCCCAGGCTCAAAAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAAGTGTGTGCCACCACACATGGCTATTTTTTTTTTTTTTTTTTTTTTTAATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCTAGGCTGGTCTCAAACTCCTGACTTCAAATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCGGCCATCAACCTTTATTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTTGCCCAGGCTGGAGTACAGTAGTGTGACCTCAGGTCACT	pathogenic	15,693
Variant at chromosome 1, position 156130623, gene LMNA: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	CTGGCTTCTCCATTCTCTCTGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCA	CTGGCTTCTCCATTCTCTCTGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCANNN	pathogenic	15,707
The mutation impacting LMNA on chromosome 1 at position 156130642: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	TGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACC	TGGAACTTGTGGCTTAGGAAAGCAGTGAGGTGGAGGAGGAGGAACCCTAGATCAGCAGCTAGAATTGACTGGAATGCTGCTGCTGGCTTTCGGTAATTGACACTGGGCCATTCACCTTCCTCCTTTGCACCTCAGTTTCCTCATCTATAAAAGGGAGAGGGTTGAGCTGAATCAACTCTAAGCTCCTTCTAGTTCTCTAAATTCTGAGAGCCTCCTAGTACAGCCAGCAGCAGCCATTAGCCTTCAGGGTAGAGAGGCCTCTTCTGGGAAGCCCCAGCCAGCCTGGGGGTCAGCCCAAGGAGCTCGGAATCTAAGTTGCCCCAGTTGCTTCACTTTACCAGCGGTTTTTCTTCATTTTCCCTCCTCCCCCTGCAGCTGCTTCAGCTTCGGAAAAGTTCTGAAGTCATGGAAAGTTGGGGCTGTGCTCCCAGCCAGGGGCTAGGCCGGATGGCAGCCAAAACCTGAGCTGGGTTTTGACTTTATTTTTAGCTTTTCTGACTGAGACAGAGGAGGGAATACATTCTCCGGTTCTGGAAGGGGCTCTTTTTTGCAGGAGACAGACACTTACATTAAACAACTTGTTCTGAGGTGTGGCCAGAGGCCTGGACTGAGCAAGTGTGCAGGCTGGGGGAGCTTCCTCTGGCTTCTCATGTCCTTCCCCTGCCCCTCTGAGTGTCACTCTATCCTCCTCCCTGCCTGGTGGGGGGAGGTGGGGGTGACTCCTTTTTTGGACTCTCCTAAGCAGAACACTGCCTGGGTCTCGTCCTCCAGAGCTTCTGCAAATCTAGCCTTCCCTATCCCTCTTCACAGTGAATTGCTGGGCCTCTTGGAGTTTAGGACTTTTGTGGTAGAAGAAAAATGTTGGCAGGGCTGCTTTTCTCCTTTCCAGGATAGATTTTTCCTTCTGCCCACGCTTGGTTTTCCTTTTTTCCATCTGCTGTGGTGGGCTCATGCTTAAGCACTGATGAGTTACAGATGGCAGCTGGAACCAGGTCCTCTGGATCTTTCCCTCCGCTCCCTGGGTCTGCTGCTTTCTCTCACCCTATATTTGTGAAGCAATTGTAACATCTAGAAAGTTCTTGGGTTCTCTGGAGGTTTTTAAGAAAATAGGACCTTTCTATTTCTCCAGTCCACTAGCAAAAATAATCAGGGGCCCAGAAAAGGTGAGGGAGGTGGCAGAGGCAGCGCTGTTCGACTGGTTATAGCTAAAGCTTTACCCACTTTGAGGAGCAGGGAGGCTTAAAGCTGGGGCCCAGATGGACCTGGAGGCCTGGGATCCACATCTGGAACCAGATGCTGAGGCTATGGTAGATGGGTAGGGCTCAGCCTTCTCCCAGGGCACGGATGAGGCAGGAGGGAGGGAGGCAGGGACCCCTCTGTTCAGTGCAGATCAGGGCACCCAGACTGGGTCCTGAGAAAGGAAAGGGTCAATATTGTGCCTGGTCATCCTTGTCTGAGGTCCCTCTGAGCTCTAACCAGACTTTCCTTCCCCACAGTCCCACATGTGTAAAAGGGACTAGGAGAGGTGACCAGTACCTTTGGGGCTCAGATCGAGAAGTGCTAGGGACATGTGGGCCATGAGCTTAGTTGTCAGGCTCCTCAGAGGGAGGGAAGCTTGGCCAAAGGGAAGTGAGTAGAGTCCAGGGAGAAGGCTAAGTAAGGCCCTGTGTGGGAAGGGGCAGGAGACAAAGGTACCCCTGTCTCTTTGGGAAAGAATGGGAGGAGAGAGAGGGAAAAGCATTCATATCACGGGGTAGAGCTCTGCCCTTGGCCCCAGGCACGTTCCTGAGCCCTGAGTCATGGGAAGGGTGGAGAAGCAGGAAGGGGGTTTTCAAGGACCTTGGGGAGGTGGGAGCCCAGCCCCAGAGGCAAGCAGATGCAAACCAACCTAATGCAAGGATGCCCTCTCCTGGTAATTGCAGGCATAGCAGCGCCAGCCCCCATGGCTGACCTCCTGGGAGCCTGGCACTGTCTAGGCACACAGACTCCTTCTCTTAAATCTACTCTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACCTGATTAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAGGCCACCCTGCAGGGCCCACCCATGGCCCCACCTAACACATGTACACTCACTCTTCTACCTAGGCCCTCCCCCATGTGGTGCCTGGTCTGACCTGTCACCTGATTTCAGAGCCATTCACCTGTCCTAGAGTCATTTTACCCACTGAGGTCACATCTTATCCTAATTTGGCTGCCAATGGGATCTACCACAGTGAATTTAAAATAATCCAGGAGGCCGGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGCCGAGGTGGGCCGATCACGAGGTCAGGAGATCGAGATCATCCTGACTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCTGGCATGGTGGCGGGCGCCTGTAGTCCCAACTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAGCCTGCGAGGCAGAGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAATAATAATAATAATAATAAAAATAATCCAGGCCATGTGTGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGAGGCAGGATTGCTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACACAGACCCCATCTCTAGAAAATAAAAATTTAAAGAAATTAGCTGGGCATGGTGGTGTGCACCTATAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTGAGAGGTCGAGGATACAGTGAGCTGTGATTGCACCACTGCACTTCAGCCTGGGTGACAGAGGGAAACCCTGTCTCTACATAAATAAATACATAAAATAAAATAATCCACAAGCCATTTCTACTTAACTTTGCAATGAACTGTACCTGACCCTAGATCCCTCCCAGTTTGGCCCTCCGGTATACAAGGGCCTCCTATAGGCCCTTGTGATTTCTCTGGGGAAAAGGAGGACTGGAGTTGATCATTTATTGAGGCCATCAGAAGCGGATGGCTAATTACATATGGGACATGTGTTAATAATGCTTTGTGTATATAGAGTGGCCTTTACTTTCAAAACACTCTTCTCCAATTTATCATGTTAAAAGCTAGGAATTGGGCTGGGTGCAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATTTGAGGTCAGGAGTTTGAGACCAGTCTGACCAACATGGTTAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCACACACCTGTAGTCCCAACAACTACTTGTGAGGCTGAGGCAGGAAAATCATTTGAACCCAGGATCAGAGGTTGTGGTGAACTGAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTATCTCAAAAAAAATAAAAAATAGCCAGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCAGAGGTGGGCAGATCACCTGAGGTTAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAATTAGCTAGGCATGGTGGCAGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAAC	pathogenic	15,713
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156134394, gene LMNA (lamin A/C): what disease(s) if pathogenic?	benign	TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGG	TGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAG	benign	15,728
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 156134410, gene LMNA (lamin A/C): what disease(s) if pathogenic?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCT	TGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGGGTCACAGCACTCCAGCCTAGGCAACAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTN	pathogenic	15,729
Variant on chromosome 1, at position 156134499, affecting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	CAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACC	CAGAGCGAGACTCCATCTCAAAAAAACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCN	pathogenic	15,743
Assess the variant on chromosome 1, position 156134523, impacting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	AACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCC	AACATAAATAAATAAAAATAAAAATAAATAATAAATAAAAGCTAAGAATCAAAGAAGCAGTTTATTCCTAATTTCACAGTCTCATCTGTTCATAGTGGGGCCAGGATTAGAGTCAGTGGCCAAGCTTCCATCCTGGGTTCTTTCCCTTCCCAGGCCCTACCATCATAGTATACCAGGGAAAGACCTGGAGAAGCCAGCAGGTTGACCACCGAACCAAGGCTGGGCCACCTTCCTCCTGGGTCTGGTCTCCAGCCTCCCAGTTGTACCCTTCCCCCAGCCCTTCCTGGATGCACTGATCAGCCTGTGCTTCCTTGCCCTGTTTTTCTTTATAAATAGAGCCATGTTCTCCTCTCTCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCT	pathogenic	15,749
A genetic alteration at chromosome 1, position 156134876, in gene LMNA (lamin A/C)—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	TCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGAC	TCTCTCTCTCTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTCCGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACNNNNNNNNNNNNNNNNN	pathogenic	15,767
Determine whether the variant at chromosome 1, position 156134926, in gene LMNA (lamin A/C) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTT	CACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTN	pathogenic	15,774
Chromosome 1, position 156134942, gene LMNA (lamin A/C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	CAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTC	CAATGGCACGATCTCAGCTCACTGCAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCCCACCACCATGCCCAGCTACTTTTTGGATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTTAGGTGTTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCAAGACGTGTTCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCNNN	pathogenic	15,780
The mutation impacting LMNA (lamin A/C) on chromosome 1 at position 156135196: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Charcot-Marie-Tooth_disease_type_2B1', 'Congenital_muscular_dystrophy_due_to_LMNA_mutation', 'Dilated_cardiomyopathy-hypergonadotropic_hypogonadism_syndrome', 'Dilated_cardiomyopathy_1A', 'Emery-Dreifuss_muscular_dystrophy_2,_autosomal_dominant', 'Emery-Dreifuss_muscular_dystrophy_3,_autosomal_recessive', 'Familial_partial_lipodystrophy,_Dunnigan_type', 'Heart-hand_syndrome,_Slovenian_type', 'Hutchinson-Gilford_syndrome', 'Mandibuloacral_dysplasia_with_type_A_lipodystrophy', 'Restrictive_dermopathy_2']	TCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCC	TCTCTCTATGTTGTTGAGGCTGGTCTTGAACTCCTGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCN	pathogenic	15,793
Gene mutation in LMNA (lamin A/C) at chromosome 1, position 156135230—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Primary_dilated_cardiomyopathy']	TGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCT	TGGCTGCAAGAGATCTTCCTGCCTCAGCCTCCCAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTN	pathogenic	15,800
Chromosome 1, position 156135262, gene LMNA (lamin A/C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Charcot-Marie-Tooth_disease_type_2']	CAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAAC	CAATGTGCTGGGATTATAGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCAGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAA	pathogenic	15,806
Clinically, how would you classify the variant at chromosome 1, position 156135279, gene LMNA (lamin A/C): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2', 'Dilated_cardiomyopathy_1A', 'Dilated_cardiomyopathy_1S']	AGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCA	AGGCATGAGCCACCACACTTAGCCCAGCCTGTGCTTTCTTAAATGAAAATCTAAGCATACGGCTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAGATACAAAAATTAGCTGGGTGTGGTGGCCCATGTCTGTAGTCCCAGCTACTCGGGAGACTGAGGCAGGAGAATGGCATGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGCGCCACTGCTCTCCAGCCTAGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAATAAAAATAAAAAAAAGAAAATCTAAGCGTGGTGCTCCCCTGCTCAAACATCCTCAGGTTCTTTTCATGGCAGATAAGGGCATCTCTTCATGAGCCAGCCCCTGCCTACTGACCCAGCCACCTCTCCCATCCCTTCCCACCCCGTACTTCAGGCTTCAGCAGTACTGATCTTTCCAAAGACCCCAGAACACACATGCCTTCATACCTCTGTGCCTGTACATGCTTGTTTCTGCCCTTGAAATCATGACAGTAGCTCTCTGTAGGCCCCGCTAGCCTGTCCCTTGGGTCTTAGCCTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCANN	pathogenic	15,809
A genetic variant on chromosome 1, position 156135921, affects the gene LMNA (lamin A/C). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	CTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCT	CTCTTGGAGGCCTTCCCAGAGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTN	pathogenic	15,828
Is the chromosome 1, position 156135940 variant in LMNA (lamin A/C) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2']	AGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCT	AGCCCCCCAAAAGTACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTNN	pathogenic	15,831
Considering the genetic mutation at chromosome 1, position 156135953, impacting LMNA (lamin A/C): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2']	TACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGG	TACCCCAGGCATACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGNN	pathogenic	15,832
Assess the variant on chromosome 1, position 156135965, impacting LMNA (lamin A/C): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	ACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGG	ACTTTGGTTCCTTCTCTCATGTCCCCTCAGTACTTTGCACATACCTCCTTTATAGCAGTTGCTATGTTGTGCCAGAGAAGGGAGTCCTGTGGCTGGGGGGCATATATCTTTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGN	pathogenic	15,835
The genetic variant at chromosome 1, position 156136074, affecting gene LMNA (lamin A/C): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	TTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTG	TTTCTTTTTGAGACAGAGTCTAGCTGTGTCACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTT	pathogenic	15,851
Does the variant impacting LMNA (lamin A/C) on chromosome 1, position 156136103, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	CACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGC	CACCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCGATTCTTGTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCATCATGCCTGGCTACTTTTTTGTATTAGATATATATTTTCTCTCTTAGCACAGTACCTACCAAGAGTGAGTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCNNNNNNNNNNNNNNNNN	pathogenic	15,858
Does the genetic variant at chromosome 1, position 156136289, impacting gene LMNA (lamin A/C), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	GTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCC	GTGAGTAGATGTCCTGACCCCTGCAGGCATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCN	pathogenic	15,884
For chromosome 1, position 156136317, gene LMNA (lamin A/C): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Charcot-Marie-Tooth_disease_type_2']	ATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCC	ATCCAAGGCCCTCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCNN	pathogenic	15,889
The mutation in gene LMNA (lamin A/C) at chromosome 1, position 156136328—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Cardiovascular_phenotype', 'Charcot-Marie-Tooth_disease_type_2']	TCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGA	TCCTTCCCTGGACCTGTTTCCACATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGANN	pathogenic	15,891
Located at chromosome 1 position 156136351, the variant affecting gene LMNA (lamin A/C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Cardiomyopathy', 'Charcot-Marie-Tooth_disease_type_2', 'Primary_dilated_cardiomyopathy']	ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGAACCACACCTTCCTGCCTGGCGGC	ATGTGTGAAGGGGTGCACAGGCAGCAGCCCACCTCTCAGCTTCCTTCCAGTTCTTGTGTTCTGTGACCCCTTTTCCTCATCTCTGCCTGCTTCCTCACAGCTTGAGGCAGCCCTAGGTGAGGCCAAGAAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAGGTGGGGACTGTGCTTTGCAAGCCAGAGGGCTGGGGCTGGGTGATGACAGACTTGGGCTGGGCTAGGGGGGACCAGCTGTGTGCAGAGCTCGCCTTCCTGAGTCCCTTGCCCTAGTGGACAGGGAGTTGGGGGTGGCCAGCACTCAGCTCCCAGGTTAAAGTGGGGCTGGTAGTGGCTCATGGAGTAGGGCTGGGCAGGGAGCCCCGCCCCTGGGTCTTGGCCTCCCAGGAACTAATTCTGATTTTGGTTTCTGTGTCCTTCCTCCAACCCTTCCAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGAAGACTTATTCTGCCAAGGTGCTTGCTCTCGATTGGTTCCCTCACTGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGTAGGCTCCTGCTCAGGGTCTAAGGGGATACAGCTGCATCAGGGAGAGAGTGGCAAGACAGAAGGATGGCATGTGGAGAGAGGAACATCCTTGCCCTCAGAGGGTGGACCAGGGTGAGCCTGTATATCTCCTCCACACTCTGGTTCCAGGCCTGGCTCCTGGACTCTTTGGCTGTGAGACCTTGAGCAGGTTATTTAACCTCTCAGAGCATCAGTTTCCTCATCTGTAAAATGGGGATGAATACTGATCCCTAAGTCTTTGAGTTGTCAGGAAGATGAAAGATAAGGTATCCGTGTGCCTGGTGCTGCGTATGTGTCCACAGATCATGGCTATTATCCCCGGGGGAAGGGCAGTGACAGGGGTGTGTGTAGATGGAAGGAGAGGCCTCAATTGCAGGCAGGCAGAGGGCTGGGCCTTTGAGCAAGATACACCCAAGAGCCTGGGTGAGCCTCCCCGACCTTCCTCTTCCCTATCTTCCCGGCAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTTGGGACTCTGGGGAGGCCTTGGGTGGCGATGGGAGCGCTGGGGTAAGTGTCCTTTTCTCCTCTCCAGATCTGGGCTGCAGGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAAGTAAGTAGGCCTGGGCCTGGCTGCTTGCTGGACGAGGCTCCCCCTGATGGCCAACATCGGAGCCAGCTGCCCCCAACCCAAGTTTGCCAATTCAGGGCCCCTTTCTAGAGCTCTCTGTTGCAGGCTCCAGACTTCTCCACCCAGTAGGCAAACCAAAAGATGCTTCCTCAACAGCACAAGGGGTGGAAGTTAGACAGTGAGGATTGTTAAAGGCAGAGCCATACTCCTACCCGGAGAGCTTGACAGTGTCCCTCTGGGGTGGAAATGAGTTCCTTAGCTCCATCACCACAGAGGACAGAGTAAGCAGCAGGCCGGACAAAGGGCAGGCCACAAGAAAAGTTGCAGGTGGTCACTGGGGTAGACATGCTGTACAACCCTTCCCTGGCCCTGACCCTTGGACCTGGTTCCATGTCCCCACCAGGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTGCCAAAAATCTTTTCATTAAAGAATGTTTTGGAACTTTACTCGCTGGCCTGGCCTTTCTTCTCTCTCCTCCCTATACCTTGAACAGGGAACCCAGGTGTCTGGGTGCCCTACTCTGGTAAGGAAGGGAGTGGGAACTTTCTGATGCCATGGAATATTCCTGTGGGAGCAGTGGACAAGGGTCTGGATTTGTCTTCTGGGAAAGGGAGGGGAGGACAGACGTGGGGCATGCCCGCCCTGCCTCTCTCCCCCATTCTTGTTGCATGCATATCCTCTCATTTCCCTCATTTTTCCTGCAAGAATGTTCTCTCTCATTCCTGACCGCCCCTCCACTCCAATTAATAGTGCATGCCTGCTGCCCTACAAGCTTGCTCCCGTTCTCTCTTCTTTTCCTCTTAAGCTCAGAGTAGCTAGAACAGAGTCAGAGTCACTGCTCTGGTTCTCTGTCCCCAAGTCTTCCTGAGCCTTCTCCCCTTTTATGTCTTCCCTCTCCTCCTCCGGGCCCCTAGCCTCCCAAACCCCCATTGCCCGCTGGCTCCTTGGGCACAGAACCACACCTTCCTGCCTGG	pathogenic	15,893

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