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 |
|---|---|---|---|---|---|
Variant in gene GAA (alpha glucosidase), located at chromosome 17 position 80113269: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAG | AGGCCCTGCCGGAGGAGACGCCGCTCACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAA | pathogenic | 285,548 |
A genetic variant at chromosome 17, position 80113294, affecting gene GAA (alpha glucosidase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGT | CACAGGTGCTTGCCAGAGCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTN | pathogenic | 285,553 |
Evaluate this variant at chromosome 17, position 80113311, gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAG | GCACAGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGNN | pathogenic | 285,559 |
Classify the chromosome 17 variant at position 80113315 affecting gene GAA (alpha glucosidase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCC | AGTGAGGCCGACTCGACTCAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCN | pathogenic | 285,560 |
Variant at chromosome 17, position 80113333, gene GAA (alpha glucosidase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATT | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCAT | pathogenic | 285,565 |
Determine if the mutation at chromosome 17, position 80113333 in gene GAA (alpha glucosidase) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATT | CAGAGCCGTCTCGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTN | pathogenic | 285,566 |
Does the variant impacting GAA (alpha glucosidase) on chromosome 17, position 80113344, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCT | CGATAGGCGCAGGGACCATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCTGCGACGTGGTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTNNN | pathogenic | 285,571 |
Is chromosome 17, position 80113360, gene GAA (alpha glucosidase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAA | CATGCAGCGGAGACCTACCCACCCGTGGGGAGAGGTCAGGCCCAACTCGAATGCAGCACGGGCAAGTGGATTTCTAGCCAGGGAGCAGGGTGGGCTCAGAGGCAGGAATTACCAAGAAGAAGCATGGGGGTCAGGGGGATTCTGGCTGAACTGACCCAGCAGGATTCTTGCTGAAGGCAGGCCAGGGTGACCAGACATCGCCTGAGGGGTGGTGGAGGTTGGGGCTTCTCGCCAAACTGTCTTAGCAGGAATGGCAGAAACTGGGTTTTACAAGGAAGTACAAGGATGGGCCTGGGAGAAGGTTTGGGGGCCTGAGGCTATAGTTTGGCCCAGCAAAGAATCAGTGAGAGGATGGGGTTTTGGGCTTAGGTAAACAGGCAGGGGAGTGCTTGAAATGGGCCAAGAGACGGTGGATGTGAAGTCTGGGGGTCTGCAGAGCCCAGGCTCCAGCACCCGCCCAGCCCTGTCTTAGAAGCAGTGGAGATGATTACCCAGGTTCCCGGGTAACGCCAGCCCCACAGAGGCGTGGGGAGCGGCTGCAGGTGCACCTCCAGGGCCAGCCTGAAGAGGCAGCGACCTGCACAGGGGCTCCTGGGAGGTGGGGGGCAGGGAGGGCACCTTGGAGCCTGCCGGGAGGAAGCTCCCTGGAAACCAGCCCCCGCCTCTTCCAGGGGTGGTTGGGGGGACCCTCCAGGCGGCCACCATCTGTGCCTCCAGCCACCAGTTTCTCTCCACACACTACAACCTGCACAACCTCTACGGCCTGACCGAAGCCATCGCCTCCCACAGGTGAGGGCCACGTCCCGCCCCACTGGGCTCTGCCCTCACAGCCTGTCCTACAAGGTTGGGGCCTCTGCAGGGCCTCAGGGAGGAGGAAAAGCGGAGGCCCAGACCACCCGGGGCCCGCTGGCGGCCCGAGTGCTCTCCCCACCCGCTGCCTGCACCCCAGCCTGAAGCTGGAGCGCTCCTTCCCACTTCATGCCTGGGGCTTGGAGAGGAAGGACCCTGGATGCTGACAGGAGTCTGCATCAGCGGGGACCTCATGACTCCTGTGAGGCTGGGGGGGGTCCTGGCTCACCTACAGGCATCAGGTGGCCCAGACAGAGGCAACTGTGCCCGCAGACATGGGCAGTAGCCTCGCCGTCCTCCTCCCCAGCCTCTGCCTCATCCCAGAAAGCTCCTTGCTCCCAGCTCTGCCCTGCTGGTGACAGGGTTCCCGAGTGACCCCGCTCCACACAGCCCTCACGGTGTCCCCCACCACCCCAGGGCGCTGGTGAAGGCTCGGGGGACACGCCCATTTGTGATCTCCCGCTCGACCTTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGACGTGTGGAGCTCCTGGGAGCAGCTCGCCTCCTCCGTGCCAGGTGAGCTCCTACCAGGAGGGGCTGCTCAGCAGAGTAGAGCCGGGGGCCTCTATGGGAGGCTTGCCGGGGCCCCCCACCCACTTAGCAGGTGGGGCTCTGGGTCACTTGGCCTGAGCTGGCTCTGCTGCAGCAGCCTGAGGACCAGCCTGACTCTGCCCTCCCAGAAATCCTGCAGTTTAACCTGCTGGGGGTGCCTCTGGTCGGGGCCGACGTCTGCGGCTTCCTGGGCAACACCTCAGAGGAGCTGTGTGTGCGCTGGACCCAGCTGGGGGCCTTCTACCCCTTCATGCGGAACCACAACAGCCTGCTCAGTCTGGTAGGGTGGGGGTGGCGGCATGGCAGGTGGGCGATCCCACCCACCCAAGACTCTCCCCTGGGAATCCCACCCCTGCTGGAGAAGCACCCCATGCTGGGTGGCTGAGAAGTGCAGCTCTCCCGAGGCGGGGACTCCAGGGGACCGCGGCCCCAGCACCCAAGTGCTTCCTTTGCCCCCGCCTGCCCTGCAGCCCCAGGAGCCGTACAGCTTCAGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCTGCGCTACGCACTCCTCCCCCACCTCTACACACTGTTCCACCAGGCCCACGTCGCGGGGGAGACCGTGGCCCGGCCCCTCTTCTGGAGTGAGTGACCTAGGCAGGGGCGGTGGCCCATGTGTGCCCTGGGGGAGGGGCACGTAACTCCCAGGCAGCCCTGTCCTGCTGTGGGCTGTGTTCCCCAGGACCCAGCAGGTTGCCGCTGAGTGAGACAACATTTGGGCCTGGCTTAAGGGGGAAGGGCAGCAAGAAAACCCAGTAATATCCCCCAGACAGGCCGTAGTACACACGAGGAGTTCCTAACAACAGCCCTGCACATCAGTGTGTTGAGGGAGGATTCCCAGAGAGTGAGGTGATTAGTTAACTATTTGCAGAAGTCAATTTATTTTTCTTGCATACCATAGAAACATAAGTTCCAGATAAATTAAATAGTTAATGTCAAAAATCAAGCTGTGGAGGCCAGGCACGGTGGCTAACGCCTGTAATCCCAGAACTTTGGGAGGCTGAGGCGAGTGGATCACCTGAGGTCAAGAGTTCGAGGCCAGCCTGGCCAACATGGTGAAACCCATCTCTACTAAAAATACAAAAATTAGCCGTGCATGGTGGTGGGCGCCTGTAGTCCCTGCTACTCAGGAGGCTGAGGCCAGAGAATCCCTTGAACCTGGGAGGAGGAGATTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGTGTGACTCCATCTCAAAAAAAAAAAACCAAGCTGTGAAAGACTCCACAGGAAAAGATAAGTGAATGTGTATCTCTGGGGAAAGGTTTCATTTAGAGAAAAAAAAAAAAAAAAGGTGAACTTTATTTGACCATAGCAGAAAAAAAAATGTAAATCTCTGAATATAAACACAAAAAGATTAAAACTGCTCTGAACATGGACTGTAACAGCAGAGAAGGCATTGTCAATAAAACAGCAAATAGCTACTCTTCCTAATAGGTAGAGAACTCATACGTTGGTAAGACCAAGACTAAGAACCAAATTGGAGGAACACTGTTTGCAAAACAGGAGATACGAATGGTATCCACACATTCTTCACCCGGAAATCCAAGAAACGCAATTTGTGTTTTAATTACTATTTTAATGACCTTGTTGTTTCTGTCACTACACTTTTTTTTTTTTTTTTTTAGTGGTTGCCCTAGGGATTACAATTAACATCTTAATTTTAGCCTCGTTGGAACTGATGCCAACTTGCTTTCAATAGCATAAAAAAGCTTTGCTTCTATGTGGTTTCCATTGCCTCTCGTTCCTCTGTGCTGTTACACGTCTGTATCCATGATGAGCCCATCCACGCAGATTTATAATGACCGCCTTATTCAATTATCTTTTAAGTCAAATAGGAGGGAAAAATGGGTTACAAACAAAAAGTACATACACACTGTCTGCCTTTTATATTTACTGATGTAGTTACCTTTACCCATGGTTTTATTTCTTCATGTGGCTTTGACTTCTTGTCTAACATCTTTCATTTACAGCAGAAGGACTCCCTTTAGTATTTATTGTAGGGCAGTTCTGCTAGTGATGAATTCTCTCAGTTTTTGTTGACTTCAGAGTCTCTTAATTTCTCCTTCATTTTTTGAAAGTTCTGCTCAACGTAGGGTTCTTGACTGGCGGTCGTTTCTCTGAACACTTTGAACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAAN | pathogenic | 285,575 |
Is the genetic mutation found on chromosome 17 at position 80116994, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCA | ACTTGTCAGCCCATGGCCTCCGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCANN | pathogenic | 285,586 |
A mutation at chromosome position 80117014 on chromosome 17 in gene GAA (alpha glucosidase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTT | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGT | pathogenic | 285,592 |
Assess the variant on chromosome 17, position 80117014, impacting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTT | CGTGGTTTCTGCTGAGTAGCTTCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTN | pathogenic | 285,593 |
A genetic alteration at chromosome 17, position 80117035, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGC | TCTGTCTTGCCTCTTCCCAGATTCTCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAG | pathogenic | 285,599 |
Is the genetic mutation found on chromosome 17 at position 80117059, within the gene GAA (alpha glucosidase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGG | TCTGTCTTTGGCCTTTGAAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGATCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGG | pathogenic | 285,603 |
The mutation impacting GAA (alpha glucosidase) on chromosome 17 at position 80117076: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | AAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAA | AAGTCCCGATGGTGTGTCTAGGTGTAGATCTCTGAGTTTATCTTACTGGGAGTTTGTTGAGCTTCTTGGACGTATGCATTGATGTTTTTCATCAAACTTGGGCGGTTTTTCAGCCATTACTTCATAAAATATTTTTTCTGCCCCTTTCTGTCTTCTACTCTGGGACTTCCGTTCCACACATTGGTATGCTTGACGGTGCCCAGGGGTCTTTGCAGCTCTGTTGACTCCTTCCTCGTTGTGTTTTCTTTCTGTTCTTCAGACTGCTTAGTCTGACTGCCCTGTCTTCAAGGTCACTGATTCTTTTTTCCACCAGTTCTCATCTGCTGTTGAGCCCCTCTAGTGAACTTCTCATTTTAGTTGCTCTCTTTTCAACTCCAGAATTTCTGTTTCATTCCTTTACGTTTCTCTCGTTAAGGATATTCCCTATCTGGTGAGTCATGTTCTCACACTTTCCTTTAGTTCTTCAGACACGGTTTCGCTGAGCTCTTTGAACACATTTAAAGTAGCTGACGTAAACTCTTTGTCTAGTAAGTCCAATGTCTGGGCTTCTCTAGGGACAATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAN | pathogenic | 285,608 |
Variant chromosome 17, position 80117634, gene GAA (alpha glucosidase): benign or pathogenic? Disease(s)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCA | AATTTTTATTAACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCAACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTC | pathogenic | 285,626 |
Considering the genetic mutation at chromosome 17, position 80117644, impacting GAA (alpha glucosidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | AACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTG | AACTACTGTCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGN | pathogenic | 285,628 |
Gene mutation in GAA (alpha glucosidase) at chromosome 17, position 80117652—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTAT | TCCCCCCATCTGTGGGCCATACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGACCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATN | pathogenic | 285,630 |
Chromosome 17, position 80117672, gene GAA (alpha glucosidase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCG | ACTTTCTTGTTTCTTTGCGTGTCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGNNNNNNNNNNNNNNNNNNN | pathogenic | 285,632 |
Considering the variant on chromosome 17, location 80117693, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAAC | TCTCATACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAA | pathogenic | 285,637 |
A genetic alteration at chromosome 17, position 80117699, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACC | ACATTTTTGTTTCAGACTGGACATTTTAAACGCAGCTGCTGTGGTCATCAGATTCCCCATCCCCCTCAGGTCTCGTTGCTATTGCTGATTGTTTTGTGACTTTCTTGAGCTAATTCCATAAGGTCTGTGTTCTTCATTGTGTGTGGCCACCAAAGTCTCTGCTTGACTAGCTTAGTGGACAGCCAATAATTGGTCAGATATCCTTCACAGATGGCATCCGTGAGTCTCCCAGCCTTTGCTGGGGCGAGGTGGGGAGCACCGTCAACACTTAGCTAGGCCAAGGATTCTTGCTGTTCTTACAAAGATTCAGCCATTTTGTTAAATACATGCTCCCCAGATGGCTGCAAACCCTTGGTTAGTTTCAAGAGTCCTAAAAATGTCAACTCTGACCATTTTTGCCGATGTTCCTGTTTTCACAGAGGAGAGGATCTTGAGAGGGGCTTACTCCACCATCTTCACTGACATCACTCCAAGAAATGTATTTTGCAAGAAATATTTTGAAGCAGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCN | pathogenic | 285,640 |
A genetic alteration at chromosome 17, position 80118203, in gene GAA (alpha glucosidase)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glycogen_storage_disease,_type_II'] | AGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCT | AGAAAGACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTNN | pathogenic | 285,653 |
Considering the genetic mutation at chromosome 17, position 80118209, impacting GAA (alpha glucosidase): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTC | ACACCATTTATTTTGCCCATGAATTAGAATACATTAGAGAAAATAAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCNN | pathogenic | 285,654 |
Variant on chromosome 17, at position 80118253, affecting GAA (alpha glucosidase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glycogen_storage_disease', 'Glycogen_storage_disease,_type_II'] | AAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCC | AAGACTATCCCTTGCTGGCAAGAACACAGTGACACAGTAGGGTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCN | pathogenic | 285,657 |
Does the genetic variant at chromosome 17, position 80118294, impacting gene GAA (alpha glucosidase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCC | GTGGAATATAAATTGGCACATTTGTGGAAAGCAACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCN | pathogenic | 285,666 |
Gene mutation in GAA (alpha glucosidase) at chromosome 17, position 80118327—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glycogen_storage_disease,_type_II'] | ACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTC | ACAGTACATATCAGTCAATGTTTTTGAGATTCACATTGATGCGTTAATTTTACAAATAGAAATAGGGCCTAAAGAAGTCACCTCAAAAGGCATGAACGCTCCATGAATGTATCCATGCAGGGATCATAGCTGAGCACTGGATGCCCCCTGCACGTCCGGGGGCAGGAAACAGGACAGGGCAGAGCTGCGTCACAGGGCAGGACAGTCTCCGTTAGACGGAGAATCCTCCGTAGAGCTGCTTGCACATGTACATTCATCTTTTTGTCAGATGTTAATTCAAGTTGCCTTTGGTTGTGGGACTGGGAGGATCTTTTCTCTTTGTTGATACTTTTTCGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGT | pathogenic | 285,671 |
Considering the variant on chromosome 17, location 80118660, involving gene GAA (alpha glucosidase), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glycogen_storage_disease,_type_II'] | CGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCT 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CGTACTTTCCAAATACTTGACTGATGAGCACATGCTGCCTTGGTTACCGGAGGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTNN | pathogenic | 285,682 |
Is the genetic variant on chromosome 17, position 80118711, gene GAA (alpha glucosidase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Glycogen_storage_disease,_type_II'] | GGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACT | GGATAAGTGAGCGAGCAAAGTGAGGCCAGTGCTGTGTCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTN | pathogenic | 285,687 |
Variant in GAA (alpha glucosidase), chromosome 17, position 80118747—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glycogen_storage_disease,_type_II'] | TCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTGGGGAATGTCCAGTGGGTGTTAGGCATGTGGTGGGA | TCCATCCTGGTGCCTCAAGCACAAGCCCCTATTCCTGCCCTGAGCCCAGCTGCCGGCATGTCCGGGGAGAAGGCTTCTCCCAGCTCCGGCATTGACTTCTATCTGCTGGAATCATCCCTGCCCGTCTGACCTGAGTCCTCCAAGTCCTCCGGCACCTTGAGCTCCAGAGAGCAGAATTCAGCCTCTTCCTGTGCCTCCCCAGGGTGGGCATATGAGCCAGCCCCATCCCATTCATCACCCGTATGCCTGTGTGCCCATCCCCCTTGCAGGTTCCCCAAGGACTCTAGCACCTGGACTGTGGACCACCAGCTCCTGTGGGGGGAGGCCCTGCTCATCACCCCAGTGCTCCAGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGCACATGGTACGACCTGCAGACGGTGAGTCTGGGGACCCTAAGCCCTGGGGAGACGGGAGACCAGAGCAGCCCTCCCACCTGCCCCCTCCACCCAGTTGGTGTGACCAGGTGGCGGAAAGAGGAACGTATGTGTTGAGTCCCGGCCATGTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCCAGGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTGGGGAATGTCCAGTGGGTGTTAGGCATGTGGTGG | pathogenic | 285,691 |
Clinical significance of chromosome 17, position 80119283, gene GAA (alpha glucosidase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Glycogen_storage_disease,_type_II'] | GTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTGGGGAATGTCCAGTGGGTGTTAGGCATGTGGTGGGAGTGTGGCCCCCAGGGCTGTGTAGACAACAGGACCCTGCAAGGAAGGGGCTTTCCAACAGTGGGGCCTAAGACTTTAGGCAGAGGCCAGAAATCTGTCCCCAAGTGATGCAGTTAGAGAGGATTTCAGGCCCAGGTTCTCCCTGGCAAGCCCAGAGAAAGGGAAAGAAGCCCATTTTATTGAAATAACAGCAGGAGAAATCACTGCCCTTAGCCAGTCAGACGCTTCAGTTTATCACTTAGAATTAATGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCCAGGCGGGCAGCTCACTTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAG | GTGCCAGGCCCCCACCCGGCTGCTCCGCACCCATCAGCCTCTCCGCTCCTCACACCATCCCCATTTCCCAGATGAGCAGACTGAGGCCTGCTTGCAGAACCTGGCCAAGTCCCACGGCCATCACAGGCTGTGCCTGTGCTGAGCTGGCATACCCAGGCCTCTCAGGCACTGTCCCCACTCAGTAGCCAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTGGGGAATGTCCAGTGGGTGTTAGGCATGTGGTGGGAGTGTGGCCCCCAGGGCTGTGTAGACAACAGGACCCTGCAAGGAAGGGGCTTTCCAACAGTGGGGCCTAAGACTTTAGGCAGAGGCCAGAAATCTGTCCCCAAGTGATGCAGTTAGAGAGGATTTCAGGCCCAGGTTCTCCCTGGCAAGCCCAGAGAAAGGGAAAGAAGCCCATTTTATTGAAATAACAGCAGGAGAAATCACTGCCCTTAGCCAGTCAGACGCTTCAGTTTATCACTTAGAATTAATGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCCAGGCGGGCAGCTCACTTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGNN | pathogenic | 285,699 |
A genetic variant on chromosome 17, position 80119469, affects the gene GAA (alpha glucosidase). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTGGGGAATGTCCAGTGGGTGTTAGGCATGTGGTGGGAGTGTGGCCCCCAGGGCTGTGTAGACAACAGGACCCTGCAAGGAAGGGGCTTTCCAACAGTGGGGCCTAAGACTTTAGGCAGAGGCCAGAAATCTGTCCCCAAGTGATGCAGTTAGAGAGGATTTCAGGCCCAGGTTCTCCCTGGCAAGCCCAGAGAAAGGGAAAGAAGCCCATTTTATTGAAATAACAGCAGGAGAAATCACTGCCCTTAGCCAGTCAGACGCTTCAGTTTATCACTTAGAATTAATGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCCAGGCGGGCAGCTCACTTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGTCTCGCAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATAGCACCACTGCACTCCAGCCTGATGACAGGGCGAGACTGTCTCAAAAAAAAAAAAAATTAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGG | CAGGAGGGTCCCTACCTACAGTGAGCCCTGAGTCTGCGCCTGAAGTCACAGTTCAGCCCGTCTGTGCCAGGCCTCCTAGGCCTCCACGTGGAGCCCCGGGAGATGGAGAGCGTGGTTCCTGAGGACAGCATGGGGGCCTCGGCACGGCCCAGAATCCTCAAAGCAACATCTCCCTCCAGGTGCCAGTAGAGGCCCTTGGCAGCCTCCCACCCCCACCTGCAGCTCCCCGTGAGCCAGCCATCCACAGCGAGGGGCAGTGGGTGACGCTGCCGGCCCCCCTGGACACCATCAACGTCCACCTCCGGGCTGGGTACATCATCCCCCTGCAGGTACCTGGGCCAGGCGGCTATGGTGGGGGTGTGGACAGCACACTGCAGAGCTGGGGGAGGCACAGGGAGATGGTGGGGGAGAGGCCCAGGTGGGGCTTCTGAGGGGCCGCCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCAGCCTAGCATTCCCGGGCCCTGGAGGCCTCCACCTCCACCAGGGTGGGGATGATGACATCACGTGTCCTTCCCTTTCCAGGGCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATGTGAGTCCTGGGGCTGCTCAGGCTGGTGGGCAGGGGCCGGCTCGGGGTTGAGAAGGGGTGAGGGGACCTGGGCTTGGGGGTCCCACGATGGCTACCTGCCACTAGGACACTCTAGCAGGTGGCCTGGGGTCCTAGAGTGAGCAGTGGGGCCGTGCACTCTGCCCTTTCGTGTACACAGAGGGAGGTCACCTCCCTGATGCCATCATGAGTCCCTGTTCTCATGGGTGTTCCTGCCCCAGCTGTCTGCTGACACCTCCACATTCTCTGCCTTTTCATCTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGTACGTGTGACCAGTGAGGGAGCTGGCCTGCAGCTGCAGAAGGTGACTGTCCTGGGCGTGGCCACGGCGCCCCAGCAGGTCCTCTCCAACGGTGTCCCTGTCTCCAACTTCACCTACAGCCCCGACACCAAGGCAAGAGGGCCCAGAGTGGCACAGGGATCGCGTCCCCCAGCCGTGGTGCAGGGGGCAGAAGGTGCTGGGCGTCCTGGTGACCGATGCCAGGAACAGAGGATGCTGGGACCTCCCAAGGGGGTCTTTGGGGAGGAGTGGGAAGGGTCAGGCCACACAGGCTGTGCCTTTCCTCCTCCTGTGTCTACACGTGGGTGATGGGGCCACAATGACGACCTCTGAGCCGTGTTGAAGCAGCACCGCGTTTCTGGCGTGCGTTAAGGTGACCCGCACTGAGAGCCGGGGTCCCCCTGCGCCTGCCGGGGAGGAACCGGGTGCGAAGCATCCCAGGGCCAGACGGAGCTGCCCCCTGAGCGCCGGGCCTCGCTGCTGCTGGGATCTCGGGGCCAGATGGAGCCGCCTTCTGAGCGCTGGGGTCTCACTGCTGCTGGGATCTCGGGCTGCTCCATTTGTGCTCTCTCTTTTCCAGGTCCTGGACATCTGTGTCTCGCTGTTGATGGGAGAGCAGTTTCTCGTCAGCTGGTGTTAGCCGGGCGGAGTGTGTTAGTCTCTCCAGAGGGAGGCTGGTTCCCCAGGGAAGCAGAGCCTGTGTGCGGGCAGCAGCTGTGTGCGGGCCTGGGGGTTGCATGTGTCACCTGGAGCTGGGCACTAACCATTCCAAGCCGCCGGCATCGCTTGTTTCCACCTCCTGGGCCGGGGCTCTGGCCCCCAACGTGTCTAGGAGAGCTTTCTCCCTAGATCGCACTGTGGGCCGGGGCCCTGGAGGGCTGCTCTGTGTTAATAAGATTGTAAGGTTTGCCCTCCTCACCTGTTGCCGGCATGCGGGTAGTATTAGCCACCCCCCTCCATCTGTTCCCAGCACCGGAGAAGGGGGTGCTCAGGTGGAGGTGTGGGGTATGCACCTGAGCTCCTGCTTCGCGCCTGCTGCTCTGCCCCAACGCGACCGCTGCCCGGCTGCCCAGAGGGCTGGATGCCTGCCGGTCCCCGAGCAAGCCTGGGAACTCAGGAAAATTCACAGGACTTGGGAGATTCTAAATCTTAAGTGCAATTATTTTTAATAAAAGGGGCATTTGGAATCAGCTTCTGCGGGTCTCTCTGGGATTCAGGGCAGGGAGGATGTATCCAGGGGCCCTGGAACAGAGGCAGCTCCTTTGTCCTCAGCAGGCCCCCAGACATTCCCACAGTGGGTGTGCGCCGTCCTCTGTCTCAAGCCGGCATCCATCACGTCATGTTCCCATGTCACGAGGCCTGACATCACCTCATGTCCTGTCCCCATCTCACCTCACATCCCGTCACCTCATGTCCCCGCATCACCTAAAGCCCCATGTCACCTTTGTGTCCCATACCCCCATCTCACATGCCTACCTCATGTCCCCATGTCACCTTCACGTCCCATCTCACCTCACCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCACCTGACCTCCCCTCCCCACGTCACCTCCCTTCCCCTCCCCACCTCACCTCCCCTCCCCACCTCCCCTCCCCTCCCCTCCCCACCCCACCTCACCTCCCCTCCCCTTCCCATGTCACCTCCCTTCCCCTCCCCACCTCCCCTCCCCTCCACTCCTCACCTACCCTCCCCATGTCACCTCCCCTTCCCTCCCCACCTCCCCTCCCACCCCACCTCCCTTCCCCTCCCCTCCTCACCTGACCTCCCCTTCCCATGTCACCTCTCCTCCCCTCCCAACCTCCCGTCCCCATCCCACTTCACCTCCCCTCCTCACCTGACCTCCCCTCCCTATGTCATCTCTCCTCCCCTCCCACCGCACCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCACCTGACCTCCCCTCCCTACCCCACCTCACCCCCTCTCCCCTCCTCACCTCCTCTCCTCCTCTCCCCATTCATCCTCACACTCCTGCTTCCCCCATCTCTAAGGTGACTGGGGAATGTCCAGTGGGTGTTAGGCATGTGGTGGGAGTGTGGCCCCCAGGGCTGTGTAGACAACAGGACCCTGCAAGGAAGGGGCTTTCCAACAGTGGGGCCTAAGACTTTAGGCAGAGGCCAGAAATCTGTCCCCAAGTGATGCAGTTAGAGAGGATTTCAGGCCCAGGTTCTCCCTGGCAAGCCCAGAGAAAGGGAAAGAAGCCCATTTTATTGAAATAACAGCAGGAGAAATCACTGCCCTTAGCCAGTCAGACGCTTCAGTTTATCACTTAGAATTAATGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGTCCAGGCGGGCAGCTCACTTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTGAAAATACAAAAATTAGCTGGGTGTGGTGGCACACACCTGTAGTCCCAGCTACTTGGTCTCGCAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATAGCACCACTGCACTCCAGCCTGATGACAGGGCGAGACTGTCTCAAAAAAAAAAAAAATTAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTCAGAAGGCTGAG | benign | 285,706 |
The mutation impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17 at position 80210531: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AACCTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGA | AACCTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAN | pathogenic | 285,833 |
The mutation impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17 at position 80210534: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-A'] | CTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATC | CTTGAACCCTCACCACGTGCAGGTCACACACAGTGAAGCCACTTGTAACTGCACACTTTTCTGTGGAAACATCTTCACCCTTTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCN | pathogenic | 285,835 |
Gene SGSH (N-sulfoglucosamine sulfohydrolase) variant at chromosome 17, position 80210615—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | TTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCC | TTACCAGGCTTGGCATGGTCTGAACTGGAAACCCTGAGAATGTTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCN | pathogenic | 285,840 |
The mutation impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17 at position 80210657: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | TTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCAC | TTTCTGCAGTGGGACAGGAGGGACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACNNNNNNNNN | pathogenic | 285,845 |
Variant in SGSH (N-sulfoglucosamine sulfohydrolase), chromosome 17, position 80210678—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Developmental_regression', 'Diarrhea', 'Gastrointestinal_dysmotility', 'Global_developmental_delay', 'Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-A', 'Nystagmus', 'Retinal_dystrophy', 'Severely_reduced_visual_acuity'] | GACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATA | GACGTCTTCCCATGCCTTCCCTAGAACCGGAGGCCCCGGACTTCTCTGGAAAACCGCCTGTCTGCAGGCCCGATTCAAATCTATGGGGGCTGCACTTCCCTTTTACATTTTGATGTGTCAAAGGCTTTTGGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATANNNNNNNNNNN | pathogenic | 285,848 |
Variant in SGSH (N-sulfoglucosamine sulfohydrolase), chromosome 17, position 80210807—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | GGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCT | GGAGTGACCAAAAGCACAGAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTN | pathogenic | 285,854 |
Is chromosome 17, position 80210825, gene SGSH (N-sulfoglucosamine sulfohydrolase) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A', 'Sanfilippo_syndrome'] | GAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCC | GAGGCAGCGGGTGGGGCGCCTGGGTGGTCCCCAAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCAGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCN | pathogenic | 285,857 |
Does the genetic variant at chromosome 17, position 80210857, impacting gene SGSH (N-sulfoglucosamine sulfohydrolase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGA | AAGGTCGCTGCCACCCTTGCCCGGGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGANNNNNNNNNNNNN | pathogenic | 285,862 |
Mutation at chromosome 17, position 80210880, within SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mucopolysaccharidosis', 'Mucopolysaccharidosis,_MPS-III-A'] | GGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCA | GGGCAGAGGCAGAAGCCCACATATGCTGTGACGCTGGCCACCTTTTCTCAGCTTCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCAN | pathogenic | 285,865 |
Variant at chromosome position 80210933, chromosome 17, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Mucopolysaccharidosis,_MPS-III-A', 'Sanfilippo_syndrome'] | TCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAG | TCTGAGGCTGCGATGCCTCAGGAACTCCAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCA | pathogenic | 285,867 |
Does the variant impacting SGSH (N-sulfoglucosamine sulfohydrolase) on chromosome 17, position 80210960, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTG | CAGTTTACAGAGACCAGTGTGTTTACTTGTAAATAAAGCCTCTGCGTGGTGGAGACGGTACTTTCAGTGGGTCTGTGCCCCGTGGCCCCTGTGCCTGTTCGGTGGGGGTGTCCCAGAGAAGCCTGGCACCAGTACCCCCGTACAAGGCCCAGCGGACTCTGCCTTCCCCTGACCTGGCTTTGCACCCCAGCCCTTCTTGGGCCAAACATCTTTACTCCACCTTCAGGGCTCGGGGAGGACCCAGGTCCGCCAGCACCTGGCCTTGCCCCTGCCTCCTGGGGCTGTTGCAGACTGAATGTCATTTTGACAGCAGTGTCCAAGAATCAGGAAGCTGTTCTAGAATTCAGGTTGGTATCATCATAAATGAGTTCAGAAAAAGAACTTCTGTATATTTTACTAAAATAAAAAGCTTTTACAATAGCTGGCCTGTGGCCTCCTCCAGCCCACCCCAGTATGGAGTGATAGGGAGGGAAGGGCAAGGGGAGCCCACCTACTCAAGGAAGCGCCCTCTCCTTCGAGGGGTGTCCAGGCCGAGGGGTGTCCAGGCCGGGCTTCTGCTCCCGAGGTGGGTGGAGGCAGGGCAGGAACGGCACATTCTCCCAGCAACGCCGACGTCATCCAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGGCAGAGGATGGGCATTGCCACCCAGCAACGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCACCACCCAGCAATGCCAGTGTCACCGAAGAATTAACCCAAGCCAGAGGACGGGCATCGCCATGCCTTCATCTTCGGACACTCTCAAAAAAGATAAGCTTCTGCCCAGAAACACCACAGGTTCAAGCTCATCACTCAGGGAGCCTGCTGCCAATCAGCTGAAACCTGCCTGGGGAACAGGGACTTGACCATGGGGCAAAACAGAAGAAGCAGAAACCTGCCCAAAGGTCGCTCAAAGGCTTCCTCTAGGCCAGACGCTGGTAAGAGCCAGGCGCCGTGCTCCCAGGTGAGTGTCGGTGGGACCTGCGTACTGCCCACGCGGCACCGAAGCCCCTGCCTGCTCTCTGTGAAGGGTTCAGAAGTATCTGTGGCTGCCAAAGCCTGAAGAGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGT | pathogenic | 285,868 |
Chromosome 17, position 80212110, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGG | AGGGCCTCAGGCCTCCCATTTGCAGGTCCCCAAACCAAGCCAGAAAACAAGACTCCCTTGTCATGGGCTGGGGGCGCTGCCCTGTCCGCAGACCACGTATGTCTAGAATTCCCGTGCTGGGACATGGTTCAGACACAAGGACAACTGTGTCCCCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGN | pathogenic | 285,875 |
Benign or pathogenic: chromosome 17, position 80212262, gene SGSH (N-sulfoglucosamine sulfohydrolase) variant? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGC | CCTGCCATGACGGCAGTGCCCCTGGTGGTGGAGGGGCTGGGCACATGCTCTGGTCACATGCTCTGGTCCCCCTCCAGGCAATGGCAAGAGTGACCCCACAGGAAGGAAGAACCCTCCTTGGATGGGAGTGTGGACGGAAGGGCTGTTGCCACTACTCCCCAGGCTGGCCGGCCACACGGACACGTGTGGGATGTGTCTGGGACATGCCTGGGATGTGTGCACAGGCCTCCTGGGATGGTCACAGCTCATTGTGGAGGGGCTGGCACTGGGGAGAGAGCTTCTCCTCCAGGACGCCGTCGGGGGCGCACACCCAGGGGTCGTGGGTCTCCCACTGCCACTTGGCCAGCTGGTCCCGAAGCATCTCCAGAAGCTGAGCAAAGCGCGGGTCGGTGGCCAGGTTCTGGGTCTCGTGGGGGTCCCGGCTCCGGTCGTAGAGCTCCCAGCGCGCCCGGTAGTAGTAATGACGGAGGTCCTTGTACCAGCCCGTGGGCTGACCAGCTGTGGTGCGGTTCAGGAGGTCCTGGAAGGTGGGTGAGACGTAGAAGTCCTGGTCGATGGGAAAGGGCATCTTGAAGTTGAGGTTGTGCACGAGGCGGAAGTGCCGGTGCTGCACGGAGCGCATGGGGTAGGACATGGTGACCTCGTGGTGGCTCTGGCTGCCAAAGACGGTGGCCCAGAGGGGCTCGGCCTCCAGCGCCGGCAGGAGGGACCGGCCAGTGAGGTGGATGGTCTTCGAGCCAAAGATGGCGTAGCTGGGGTACGGGATCGAGAACCAATCCAAGATGGTGGGCGTGAGGTCTGGAAGGGACGCGGCATCTCAGAGCAGCAGAGCCCTCAGCACACAGGAGCTGCCCTCGGAAGGGCCGAACCTACGCCACTCTGGGCGGCTCCCTTCTCCAATCCAATCAGCAGCGGGAGGTGCCTTGTCGAGCCGACACCTCTCACCGCCACGTCATCTCTCTGGGCCTCAGTGCCTTGAATGGTATAACAAGAGGCCCTGATTCGGTGACATTTAGGATCCTTCTAAAATCCCATGGACTGGAAAAGAAGTCTCCTTTTTGGTAGCTCGTGTACTCCAGCCCCTGTGGTGGGTGTGGCCACAGTGCTCCTGGCTCATCATTTGGGGCCAGAGAGAGATGTGGGCCCCAAGAGAGATGTGGGCCGCGAGCTCGGAGGGAAAGGGAACCTGAGTTTCCTGCTGTCCCGGGCCCACCCCACCTGGAGGCTCTGCCAGGCAGTGGGCAGGACACACGAGCCTCTGCCCTGTGCCGAAGGGGTCACCCCGAGCCCCTCACAAAGTCTTCCTGCACCCGTGTCTTTGTCTGCACATCCATAACATGGGACTAGATGTCCTAGGTCTTTTTAGGAATGAGCAGGGTCATGAGGTGCTTTGGGTCCCCCAGGAAGGCAGGATGGGGTGCACGGATGCTCAGAGAGGGGTCCCCAGGCCCACAGTATCGGCATCACCTGGGAACTTGTCAGACATGCAAATTCTTGAGCCCGCCAAGATCTACTGAATCGGACACCCTGGGATTTGCAATTTGGATATTAACAAGCATCCCAGGTGATTCTGAAGCTCATCGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCN | pathogenic | 285,880 |
The mutation in gene SGSH (N-sulfoglucosamine sulfohydrolase) at chromosome 17, position 80213843—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTG | CGGAGGTAGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGNNNNNNNNNNNNN | pathogenic | 285,886 |
Variant on chromosome 17, at position 80213850, affecting SGSH (N-sulfoglucosamine sulfohydrolase): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTG | AGGCGGGGAAAAGGCAATGGTTTTGAAAGCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGNNNNNNNN | pathogenic | 285,889 |
Clinically, how would you classify the variant at chromosome 17, position 80213878, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | GCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACG | GCAGCAGGATCCAGGCGAGAATCCTAGCTTAGTGCTTACCAGCTGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGN | pathogenic | 285,893 |
Benign or pathogenic: chromosome 17, position 80213921, gene SGSH (N-sulfoglucosamine sulfohydrolase) variant? Disease(s) if pathogenic? | benign | TGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGA | TGTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGGCACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGANN | benign | 285,896 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 80213922, gene SGSH (N-sulfoglucosamine sulfohydrolase): what disease(s) if pathogenic? | benign | GTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAG | GTGCAATCCTGAGCAGCTTACTTCACCTCTCTGAGCCTCATTCTTTTCCTCTGTAGAGTGGGAGTGACAGTCCCTTCCTCACCCAGATGATATGAGAGCCACATTAGGTAATGGGTGTGGAGCAGCATCTGACAGGTCATGGCCCCGTCCCAGATCCACTCCCACACCTTTCCTGACGGAGACAGACAAAGGCATACCTAGGAGGCTCACGTAGGCCTCGCTGACTTGGCCCCAGCGTTTTGGGTGCTCCGGGGATGACACCAGTAAGGGTTCAGCAGTGCCCGGCCAGTACAGGTTGGTCCTGCCGCTGGGGAAGGGGATCCCGTTGTCGGACGTGAAGATCACCAGTGTGTCGTTCAGGACACCGGCGTCACGCAGCTCCTGGAGCACCAGTCCAACTCCTGTGGTGAGGGGCCGAGAAGCAGAGCTCAGCCGCAGACACGGAGGGAGGCAGCGGGTGGTGTGTGTAGACCCACCTGCTGCTGCATCCGGCCGCTGGGCTCCAGCGCTTTCCGGATTCGAAAGCACCCTGTAGTTCTTCCCAATGGCCCTGGCTCTTGCCCAGCTCTTGCCCAGCTCCGCCCAGCTCCCATTCCCTGAGCAGGCCTCGAATGGGCCTCCAGGGACTCCAGCCATCCCTTGGCACTTCTGTGTCACCCCCAGGCAGCTGCTCCCTGGTGCCCGCCGGCTTTTGAGTTCTCCGGAATCTCGTGTCTGTCCCATGGAGCAAATAGGGCAGGGGCCAGAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGNN | benign | 285,897 |
Is the variant located on chromosome 17 at position 80214667, gene SGSH (N-sulfoglucosamine sulfohydrolase), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | GAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACA | GAGGACGAGGCTTCCTCTATACTCGCTCCTTCCCAGCTGGGGCCAGAGGACAAGGCTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAN | pathogenic | 285,918 |
Gene SGSH (N-sulfoglucosamine sulfohydrolase) variant at chromosome position 80214722 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCA | CTTCCTCTATACCCGCTCCTTCCCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCAN | pathogenic | 285,921 |
Clinical significance of chromosome 17, position 80214744, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAG | CCAGCTCACTAAGAATTAATGGCACCAATAGGGAAATGGCAAAGGTCCTGACCTCCTGTCGTCCCTGACCCCAAAAGACATGTGTGCTGGAATCTGTGAAGGGGTTCTTGTTTGGAAAGGGGAACTTCACGAATAAAGATCTTGGGACAAAATCATCCTGAAGTGCTCAGGTAGGCCCTAAACCCGACGGGGTCCTTATAAGAAGCGGAAACAGGCCGGGCGCGGTGCCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATGTGGTGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACCGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGA | pathogenic | 285,922 |
Clinical classification of chromosome 17, position 80215084, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAGGCACAAGGAGGTAGGTGACTTGCTCAAGGCCACACACAGCAGTGCAGCCAGGGCTGGCGGGTGAGTCGGAGCCCCTAGTCTGCACTCACAGCCATAGGCTGTGCCTCCTCCTGGAGGTGGGAGGGAAAGTGGGCAACACCCCCCGGGATCCCAGGGATGGGAGACGTGGCAGAGGCCTGGGCCCCGGACGCAGCCTGTCTACTCCCTGCCCACCCCCTCCTCCCGCCCCTTGCACCTCACCTGGGGCAGGCCAGTGAGGAGGCTGGCGCGGCTGGGAGAGCAGCTGCTGACCGAGGTGAAGGCATTGCGAAAGAGGAGGCTGCGGCGGGCCAAGGCGTCC | AAAATTAGCTGGGCATGGTGGCGTGCGGTGCGATTGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAGGCACAAGGAGGTAGGTGACTTGCTCAAGGCCACACACAGCAGTGCAGCCAGGGCTGGCGGGTGAGTCGGAGCCCCTAGTCTGCACTCACAGCCATAGGCTGTGCCTCCTCCTGGAGGTGGGAGGGAAAGTGGGCAACACCCCCCGGGATCCCAGGGATGGGAGACGTGGCAGAGGCCTGGGCCCCGGACGCAGCCTGTCTACTCCCTGCCCACCCCCTCCTCCCGCCCCTTGCACCTCACCTGGGGCAGGCCAGTGAGGAGGCTGGCGCGGCTGGGAGAGCAGCTGCTGACCGAGGTGAAGGCATTGCGAAAGAGGAGGCTGCGGCGGGCCAAGGCGTCCNNN | pathogenic | 285,927 |
Clinical significance of chromosome 17, position 80215118, gene SGSH (N-sulfoglucosamine sulfohydrolase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | TGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAGGCACAAGGAGGTAGGTGACTTGCTCAAGGCCACACACAGCAGTGCAGCCAGGGCTGGCGGGTGAGTCGGAGCCCCTAGTCTGCACTCACAGCCATAGGCTGTGCCTCCTCCTGGAGGTGGGAGGGAAAGTGGGCAACACCCCCCGGGATCCCAGGGATGGGAGACGTGGCAGAGGCCTGGGCCCCGGACGCAGCCTGTCTACTCCCTGCCCACCCCCTCCTCCCGCCCCTTGCACCTCACCTGGGGCAGGCCAGTGAGGAGGCTGGCGCGGCTGGGAGAGCAGCTGCTGACCGAGGTGAAGGCATTGCGAAAGAGGAGGCTGCGGCGGGCCAAGGCGTCCAGGTGCGGGGTGGCGATGGCGCTGTTGTTGTACG | TGCAGTCCTAGCTACTTTGGAGGCTGAGACAGAAAAATCGCTCGAACCTGGGAGGTGGTGGTTGTAGTGAGCCGAGATTGCGCCACTGCACTCCCGCGTGGGTGACAGAGCAAGACTCAGTCTCAAAAAAAAAAAAAAAGAAGAAGTGGAGACACAAAGAGGAGACACAGGAAAAAAGGCCATGTGAAGGCTTCAGCGGGGATGGGGGCGATTCTGCCGCCAGCCCAGGAACGCCCAGCACTGGCACAGCCCCCAGAAGTTGGAAGAGGAAAGGCAGGGTCTCCCCTAGGCCTTCAGGGGAGCATGGCCCTGCTGACACCTTGATTTCAAACTTCTGGCCTCCTGAACTGTGGGAGTACAAATTTTGGTTGCTGTAAGCCATCAACCACAAAAAACTCACAGACCTCAAGATCTCCATCTGCATATGCTAAGGAACTCCAAACCCCCAAATCTGACCCAGGTCCTGTGACTGGAAATATCTGAAGTCTTCACGCAACCTCTGGGGCACCCGAAGGCCCCAGCCCAGGAGCAGGTCCACATCAGGGCAGCCCCGGGGTTGGGTCCTGATGCCACCCACAGGCCCCTCCTCTCAATGTGGGCTCTGCCAGCTGCAGCACAGGGCCTGCCACACTGGGACCCTCACCCACATTATGCCGTGACCTAAGAGGGCGCTGGCCCAGGATGGGGGACCCCGGCCGTGGCACCCCCTCCAGTGCCCGGTTCTGCAAGCCCACCTTGGTCCATGCGGCCGACGGTGGTGTACTGAGCGGCCAGGTCGGCTCGGGCTGCCGGGGTGTTGGGGACGAAGTAAGGCACCTGGGGCAGGCGGTGGGGAGCCAGGCTTAGAACAGACAGACCGGGGGAGCGGTGTCCAGCCTTCTCCCCGGGGCCTCCTGCAAATGGGTTAGCCCAGAACAGCCTCACTCCGGACCACCCCGTCTCTCTACGGTTCTCTCTGTGGCCCCGAGGTTGGGAACCTGAATCCGATTTGGTCAGAGCCTCTTTCTTCATCATCTAGGGCCAGGGCTGCAAGCTCGTAGGAGGCCAGGGTCCCCGACCCAGGGCTGACGGGCGTCCTGAAACACAGGAGGGGCCGTCCTACCAGCACGTCCAGTGGGTCGTAGGCCTGGGGGGTCCAGTCTGGGATACGACCCATGCCGCTCTCTCCGTTGCCAAACTTCTCACAGAAGGTTCCGTACTGGGGCTGGGAGTGCCCACAGCGGTGGGGGTCGTGGAAGGCGACGTAGAGGAAGAAAGGCCTGCACGGGAGGAGGCTCATTGCCAAGGCTGCGGGGCCACTGCCACGTGGCACAGGAAGCCCCTCGGCTCTGCCTCCTCCTCTGTATCTGGAAGTCAACCTGTGACCCTCACTGCCTCAGTTTCCCCACGTCCCTTCTCCCTCTGACCAGGCTAACTCGAGTACCTGGAACCTTCTCCCCTGCCCCCATTCGAGCCACGTGGGGGCCCATGCATCCCGCCGGAAGACTCCGGGCTGTGCTCTGGTACCGGCCGCCAGGGGGAAGGGGCAGGGGCCCCGACTCATACCGGTCATCCTGAGTCTGCAGGAATTTCCGGACGAGCAGCTTAATTCTAGTGATGTTCCGCCCCACCTGGAGGACGGAGCCATTCTCCTCCGTGTACGCAAAGTCAAACGGGTACACGGTCTCCGGCCCCACGTGCTTCTTCCCGATGATGCCTGGGCGGGAAGAGAGGCCTGGCCAGAGTCCCTTCAGCCTCCCAACCCTTTCTGCTCCCTTCTCTGCCCCTCTCGGCCCTAAGCGCACTGTGGGTTCTCGTGGACACACAGCCCAGCCAGGAGACCCAGGCCCAGATCCTTTGGGACAAGAGCTAAGGGCAGGCCACGGGGGCTGAGCGTGCCTTGGTACAAGGTGCCGAACCTCCTGGGCTCTGGCCTGGCCTCTGTGCCTCACCCCACGCCCTGTCCTCGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAGGCACAAGGAGGTAGGTGACTTGCTCAAGGCCACACACAGCAGTGCAGCCAGGGCTGGCGGGTGAGTCGGAGCCCCTAGTCTGCACTCACAGCCATAGGCTGTGCCTCCTCCTGGAGGTGGGAGGGAAAGTGGGCAACACCCCCCGGGATCCCAGGGATGGGAGACGTGGCAGAGGCCTGGGCCCCGGACGCAGCCTGTCTACTCCCTGCCCACCCCCTCCTCCCGCCCCTTGCACCTCACCTGGGGCAGGCCAGTGAGGAGGCTGGCGCGGCTGGGAGAGCAGCTGCTGACCGAGGTGAAGGCATTGCGAAAGAGGAGGCTGCGGCGGGCCAAGGCGTCCAGGTGCGGGGTGGCGATGGCGCTGTTGTTGTACGNNNNN | pathogenic | 285,929 |
Is the chromosome 17, position 80217064 variant in SGSH (N-sulfoglucosamine sulfohydrolase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAGGCACAAGGAGGTAGGTGACTTGCTCAAGGCCACACACAGCAGTGCAGCCAGGGCTGGCGGGTGAGTCGGAGCCCCTAGTCTGCACTCACAGCCATAGGCTGTGCCTCCTCCTGGAGGTGGGAGGGAAAGTGGGCAACACCCCCCGGGATCCCAGGGATGGGAGACGTGGCAGAGGCCTGGGCCCCGGACGCAGCCTGTCTACTCCCTGCCCACCCCCTCCTCCCGCCCCTTGCACCTCACCTGGGGCAGGCCAGTGAGGAGGCTGGCGCGGCTGGGAGAGCAGCTGCTGACCGAGGTGAAGGCATTGCGAAAGAGGAGGCTGCGGCGGGCCAAGGCGTCCAGGTGCGGGGTGGCGATGGCGCTGTTGTTGTACGCGCCACTCTCAAAGCCTCCGTCATCCGCTGCGTGAGGTGGGAGACAGAGAGTGCACGGTCGGCTGCGGTCACGAGAAACAGCACTGGGAGTGAGGGAGGCTGGGACTGTGATGCCAGAAGGCGAGACACCCAGGTGGGCATGGTACTGGCTCAGTGTGAACACTCAGCGCGAAATGCTATCGTGACAGAGCACTCCATTACCTAGGAGGCATGACACCCGAGTGGGTACATCAGGCAAGCATGGTATCAGAGGGCATGTTAGCAGGTCTCATACTTGGTGGGTATGTTAGCAGGCAGGCATGTATCCAGAAGACCCCATACCCACTGGGTATGTTAGCAAGAAGGCATGGTACCTAGTAGGCACAATACCTGGTGGGTATATCAGCAAGCAGGCAGGGTGCCCAGGCAGGCCTGATACCCAGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGGCTGGACTGATTGATAGATGGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGGCTGGACTGATAGATGGTGGGTATAAGCAGGTAGGCATGGTACCCAGGCAGGCCTGATACCAGTGGGTATGTTAGCAGGTAGACTGGTATCCAGCAGGGATGATGCGTGGTTGGTATGTTAGCAGGCAGGCATGGTATCCAAGTGGGCATGATAAGCAGGCATCATACCACAATAAGCTTGATGATACCCTAAGCAGGCATGATACCCGGTGGGTATGTTGGCAGGTGGGCATGGTACACAGGCTGGACTGATAGCTGGTGGGTATAAGCAGATGGGCATGGTACCCAGGCAAGCCTGGTACCTGCATAGGCATGTTAGCAGGCAGGCATGGTACCCAAGTGGGCAAGATACTCATGCAGGCATGATGACCCAACAAGCTTGATGATACCCCAGCAGGCATGCTACCTGGGTGGGCGTGTTAGCCGGCTAGGCATTTAGGCAGACAGCGGCTGAGCGCATGGCCACAGAACTGCTGGGCAATTCTGGGCTCAGCGGAAACCGCATGGGGCAGAGGGCAGGAGAGCCTCGCCCAGGGCGCGTCTAAAGCTCTATGTGTGTGCGTCCCACCGCTGCTTCTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCACGTAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACCCGCAGGCCAGGAAGAAAGCTGCCCTTCTCCAAACCCAGAGTGTCTCGGCACTTGGCTGTGGGCCTGCTATGGTCTGAACTGTGTCCTCCCAGAATTCATATGCTGAAGCCCTAACGTCAACATCACTGTATCTGGAGACAGGGTCCTTAATTAAGGGTAAATGAATCATAAGGATGAGATCCTGATCTGACAGGACTGTGGACTTAAAGGAAAAGAAAGAGAGGGCCGGGTGCAGTGTTTCATGCCCGTAAGCCCAGCACCCGGGAGGCCAAGGCAGGAAGATTGCTTGAGCCCAGGAGTTCGAGACCAGTCTGGGCAACACAGTGAGACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGATGTGCACTTGAGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCTGTG | CGGCACGGGGTCCTCACCTGTGCGCACACCAGCTTGGCTGAGCAGCAGCGGCAGGCTCCGCACCTTGTCGAAGGAGTTGAAGTGGTGCACGTCCTGGTGCAGCCCGTACATCCCATTCTGATGCTGCCAGCAAAGGCGCATGAGGTCCGGGGCCCCCGGACAGCCAGAGCCCGCCTGCCGCACCTGTTCTCCCACGGCCCTCCCATCCCCAGGGGCCTTCTCGGGGCCCTGATTTAGACTTCGAGTGGCCAGCACCCAGAGACACTGGCTGTACCTCCCACTCCCTGCCCGATAGGCCCATGGGTCCCTCCCGTGAAAGGAGGACTTCGCCAGAAAGAAGGGGACCTGCAGGGCGTGCACCGACACGAGGGTGGCCTTGATGTTCTTTTTGCGTATCCGTACTTTTGAACTCTTCTGTTATGATCACACGTTACAGAGTGAAAAAGACAGGGTCAGGCCTTGTTTTATTACCTAGTTATTTTATATTGTAAAAGATGTGTACATTTTAAAAACTCAGACTGCCGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAACGCAGGTGGATCACGAGGTCAGGAGATGGAGACCAGCCTGGCCAACATGGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGTAGGAGAATGGCTTGAATCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTAAAAGAACAAGTGTCCTTAAACACCCATGTTCATAGCAGCTTTATTCACAACAGCCAAAGGGTAGCAGCAACCCAAGTGCCCACTGACGGATGAATATGGAGAAGCAAAATACGGGGCCCATCCATCCACTGGAATATGAGTCAGCCCTGAAGAGGAGGGAAGTTCTGACTCGTGCTACAGCATATGGTTAACCCTGAGGACATTGTGCTGAGTGAAGTAAGGACACAAAAGGGGGGCCGGGCTCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGCGGGCAGATCACTTGAGGCCAGGAGTTCGAAACCAGCCTGACCAACATGATGAAACCCCATCTCTACTAAAAATACAAAAATTAGACAGGCGTGGTGGCGCGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGACTCGCTGGAACCGGGGAGGCAGAGGCTGCAGTGAGCCACGATCGCACCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAACTCAAAAAAAAAAAGGACTAGTCCTGTGTGATTCCACTCTTATGTGGCCCCTGGAGCAGTCAGATTCATAGAGACAGGGGATGGGGAGGGAGAATGTGGAGCTGGTGTTTCATGGGACAGAGCTTCTGTTTGGGTAGATGGAAAAGTTCTGGAGATGGATGGTGGTGATGGCTGCATAACACTGTGAATGCACTTAATGCCCCGGAACTGTGCGCTGAAAAATGGCTAAGATGGGAATGTTGATGTTTGTGCATTTTACCACAGTAAAATAGGAGCATGTGTGCCTTAACGGTGTCCGCTCCCTGCACCATGGCGTTCCTGGGACACTGTGGCCATGGCGGTTCACGCTGAGTGAGCCCACCAGGCCTCGCACTAAGTGTTTACATACAAAGCATTAGCCCCGCCAATCTCCATAACTAGAGTGGCATCTCATTACACCCACCATCTTACAGATGAGGAAACTGAGGCACAAGGAGGTAGGTGACTTGCTCAAGGCCACACACAGCAGTGCAGCCAGGGCTGGCGGGTGAGTCGGAGCCCCTAGTCTGCACTCACAGCCATAGGCTGTGCCTCCTCCTGGAGGTGGGAGGGAAAGTGGGCAACACCCCCCGGGATCCCAGGGATGGGAGACGTGGCAGAGGCCTGGGCCCCGGACGCAGCCTGTCTACTCCCTGCCCACCCCCTCCTCCCGCCCCTTGCACCTCACCTGGGGCAGGCCAGTGAGGAGGCTGGCGCGGCTGGAGAGCAGCTGCTGACCGAGGTGAAGGCATTGCGAAAGAGGAGGCTGCGGCGGGCCAAGGCGTCCAGGTGCGGGGTGGCGATGGCGCTGTTGTTGTACGCGCCACTCTCAAAGCCTCCGTCATCCGCTGCGTGAGGTGGGAGACAGAGAGTGCACGGTCGGCTGCGGTCACGAGAAACAGCACTGGGAGTGAGGGAGGCTGGGACTGTGATGCCAGAAGGCGAGACACCCAGGTGGGCATGGTACTGGCTCAGTGTGAACACTCAGCGCGAAATGCTATCGTGACAGAGCACTCCATTACCTAGGAGGCATGACACCCGAGTGGGTACATCAGGCAAGCATGGTATCAGAGGGCATGTTAGCAGGTCTCATACTTGGTGGGTATGTTAGCAGGCAGGCATGTATCCAGAAGACCCCATACCCACTGGGTATGTTAGCAAGAAGGCATGGTACCTAGTAGGCACAATACCTGGTGGGTATATCAGCAAGCAGGCAGGGTGCCCAGGCAGGCCTGATACCCAGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGGCTGGACTGATTGATAGATGGTGGGTATGTTGGCAGGTGAGCATGGTATGGAGGCTGGACTGATAGATGGTGGGTATAAGCAGGTAGGCATGGTACCCAGGCAGGCCTGATACCAGTGGGTATGTTAGCAGGTAGACTGGTATCCAGCAGGGATGATGCGTGGTTGGTATGTTAGCAGGCAGGCATGGTATCCAAGTGGGCATGATAAGCAGGCATCATACCACAATAAGCTTGATGATACCCTAAGCAGGCATGATACCCGGTGGGTATGTTGGCAGGTGGGCATGGTACACAGGCTGGACTGATAGCTGGTGGGTATAAGCAGATGGGCATGGTACCCAGGCAAGCCTGGTACCTGCATAGGCATGTTAGCAGGCAGGCATGGTACCCAAGTGGGCAAGATACTCATGCAGGCATGATGACCCAACAAGCTTGATGATACCCCAGCAGGCATGCTACCTGGGTGGGCGTGTTAGCCGGCTAGGCATTTAGGCAGACAGCGGCTGAGCGCATGGCCACAGAACTGCTGGGCAATTCTGGGCTCAGCGGAAACCGCATGGGGCAGAGGGCAGGAGAGCCTCGCCCAGGGCGCGTCTAAAGCTCTATGTGTGTGCGTCCCACCGCTGCTTCTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCACGTAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACCCGCAGGCCAGGAAGAAAGCTGCCCTTCTCCAAACCCAGAGTGTCTCGGCACTTGGCTGTGGGCCTGCTATGGTCTGAACTGTGTCCTCCCAGAATTCATATGCTGAAGCCCTAACGTCAACATCACTGTATCTGGAGACAGGGTCCTTAATTAAGGGTAAATGAATCATAAGGATGAGATCCTGATCTGACAGGACTGTGGACTTAAAGGAAAAGAAAGAGAGGGCCGGGTGCAGTGTTTCATGCCCGTAAGCCCAGCACCCGGGAGGCCAAGGCAGGAAGATTGCTTGAGCCCAGGAGTTCGAGACCAGTCTGGGCAACACAGTGAGACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGATGTGCACTTGAGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCTGTGN | pathogenic | 285,941 |
Is the genetic variant on chromosome 17, position 80220265, gene SGSH (N-sulfoglucosamine sulfohydrolase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | AAGCTCTATGTGTGTGCGTCCCACCGCTGCTTCTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCACGTAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACCCGCAGGCCAGGAAGAAAGCTGCCCTTCTCCAAACCCAGAGTGTCTCGGCACTTGGCTGTGGGCCTGCTATGGTCTGAACTGTGTCCTCCCAGAATTCATATGCTGAAGCCCTAACGTCAACATCACTGTATCTGGAGACAGGGTCCTTAATTAAGGGTAAATGAATCATAAGGATGAGATCCTGATCTGACAGGACTGTGGACTTAAAGGAAAAGAAAGAGAGGGCCGGGTGCAGTGTTTCATGCCCGTAAGCCCAGCACCCGGGAGGCCAAGGCAGGAAGATTGCTTGAGCCCAGGAGTTCGAGACCAGTCTGGGCAACACAGTGAGACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGATGTGCACTTGAGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCTGTGATTGTGCTACTGTGCTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGGAAAAAGAAAGGAAAAGGAAGTGAGACCACCCCCATCCGCTTGTCATGTGAGGAAACAGTGAGAGGGTGACCACCTGTAAGCCGAAAGTGGACCCTCACTGGAACCCAACCAAGCTGGCACCCTGACCTTGGATTTTCAGCCCACAGAACTGTGAGAAATACATTTCTGTTTAAGCCGATCCATGGCAGTCCGTGCTAAGAAAGGCCCTAGCCCAGGGGCCGCATAGCCTGGACTCTGACAGCCTCCTGTAGGAATTCTGATCCGCAGGTGAGGGTCCATGCAGATTCTCTGCTGTGTTTCTGGGAGGCGAGGAGTTGGCAGGAGAGCTGTTTATGTTACAGTGAGCCGAACCCCCGCCCAGAGACCACAAAATTAATCAGAAAGAGGGCAACTGGCAGGGCGCCAGACCTCAGAAGGGGAAAGAATCGCAGGCCTTGGGTTTGGCCTTGTCACTTGTCATGAGCCAGAGCCTTGATTACCTAAACCGGAAGTCTTGTGAGCAGCACGGTGCTTGCTCTGGAGGAACCTGGGGTTTCTGAGAGGGACTGGGGTTGGGGGAGACGGTGGTGGGTGGGTGGTGGAGGGCTGTGCCCTTGGGATAAGGGAAAAGACAGCTGAGACACAGGCTCTGGGGTCGGAAATGAGAGCCAGGAGGGCACCCTGTCTGCAGTCTCTGGGGACCGGAGCACCAGCCCCTCCTCTGGGATCCCCTCCCAAGAGGGATTTGAGATCCGTGGACCCCTGAGCCCTGGCTGGGCAGGGTCAGAGGAGGGTGGGACAGGCGGCACGAGGTAAGTGTAGGGGTGCTGGATGCTGGGGCTCACTCCTCCAGCCTTTGCTGCCCTCTCTGGGGAGACACCCGTGAAGAGTCTGGGGGCGGCACAGAGAGGAGGACGAGAGGGAATGGCAGCGGGGGATACAAGGGCAGGGCACACTAGGGTCAGCATTGACCACGGGTGGGGAGGAGGCCAGTGGCCACTTCCCCGGGCCACCGCAGGTGGGCGTGGGGGGGCGGCGCCGGCACTCACCGAGGAGCAGCAGTGCGTTCCGGGGACGCGCCCGGCAGAGCCCCAGGACTAGCAGCAGCGCGCAGCAGGCGGGCACGGGGCAGCTCATGGCGGCGGCGGCTCGGACTCGGGATCGGGATCCGGCTCCGGCTCTCTGGTCTCCCGCTCGGCCCCGCCCCCTGCCCCGACCCCGGTCACGTGCGCGCCAGACCCCGCCCCGGCCTGTCCCCGGCGATTCCTGCGGACCCAGCTGCGGCGACGCCAGGAGACCCCAAGCTGCATCGCCGAGTGGGTGAGTCCGTGGCCCGCGAGGGCGGCGAGCGGGGACCAGGGGCAGGGGGAGCGGACAGTGGCCGGGGTCGCCGGGGGCAGCCGACGCGGGGGCCAGCGCGGAGTCCTGAAGTGCGGGGGCCTCCCGTGGGGACCACTCCCCCGCCGCGTCCCTACCCGGGTCCCCGCGGCCCTCGGCCTTGCTCGGGGCCAAGGGACCGCGGACGGTCAGGTGGCGCAGGGTCTCCTCCGGAGACCCCAGGATCCGGAGCCAGCGGCCTTGTGGGCGGGGCCGGGGGCCGGGGAGTGGATTTTGCCCGGAGCGGAGCGGCCGGGGGCGTGGGGGGCTGGGGGTGAGGGTGGCGGCTCTGCGCGCGGGCGCCGGGGCCCTGGAAGATGCTGCGCACCTGAATTAACCGGGCGCCTCTGATGTCCTCCCAGAAGCAACTAGAACTCCAGGGCTGTGAAAGCCACAGGTGGGGGCTGAGCGAGGCGTGGCCTCAGGAGCGGAGGACCCCCCCACTCTCCCTCGAGCGCCGCAGTCCACCGTAGCGGGTGGAGCCCGCCTTGGTGCGCAGTTGGAAAACCTCGGAGCCCCGCTGGATCTCCTGGCTGCCACCCGCACCCCCCGCCAGCCTACGGTGCGCCCGCGGGCCCAGCTTCTCTCTGCGCTGCTCCCCGTTAAATTCCCTGGGGAGACGGAAAAAAAGGCAAAGGAAGTCGGTTCTCCAGGGGCCAGAAGTGTTGAGCCTAATTAGTCTTCAGACTTCTCAATGAGGAATCGCTTATCAGTTTCTTATCTGGGAGAGTTGAGGATGGAGGGACAGAAGGCACCCAGGATTTGCACGGGGGGGATTCAGGGAGAGAGGGTGATGAGGGACGGGGTGGGCCTTCCAGTCTTGGCCCAGTCCCCATCTTGCACACATTGTTGGCTTCCTCTTAGAGCCGTTCGCCCCCCTGGGGAGGGGAGACCCATAGTGACCTCTCCTGACACCCGCCGACCCTGACCAGTGTTGCCGGGTTCTTCAAAGGCCACGCTCTGACTGCTGGTCTGTGTCACCTGCACCCCCCAGCCCCACCGTAGAGATGCCTTCTTCGGTGACGGCGCTGGGTCAGGCCAGGTCCTCTGGCCCCGGGATGGCCCCGAGCGCCTGCTGCTGCTCCCCTGCGGCCCTGCAGAGGAGGCTGCCCATCCTGGCGTGGCTGCCCAGCTACTCCCTGCAGTGGCTGAAGATGGATTTCGTCGCCGGCCTCTCAGTTGGCCTCACTGCCATTCCCCAGGCGCTGGCCTATGCTGAAGTGGCTGGACTCCCGCCCCAGGTGAGGCGTCTGACCCTGCTGCCAGCCATATCTCAGAAACAGTGCAGAATACACAGTATCAATCCCAGACACCATCAGCGATTCCAGGTTTCCAGCCCCTGGGCCCCAAGGAACCTTTGGTTTACAGTGTGTGACGCAGATTGTCTCTGGGCCGACCCAGGCTCCTATGCCTGTTTGGCACACACAGACACTGAGCTGGTTATGGAGGGGCCAGCGAGATGACTCATGGAGGCCTCAGGAGTTCAAGACCAGCCCGACCAAAATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGGCTGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCGCAAGGTCAGGAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC | AAGCTCTATGTGTGTGCGTCCCACCGCTGCTTCTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCACGTAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACCCGCAGGCCAGGAAGAAAGCTGCCCTTCTCCAAACCCAGAGTGTCTCGGCACTTGGCTGTGGGCCTGCTATGGTCTGAACTGTGTCCTCCCAGAATTCATATGCTGAAGCCCTAACGTCAACATCACTGTATCTGGAGACAGGGTCCTTAATTAAGGGTAAATGAATCATAAGGATGAGATCCTGATCTGACAGGACTGTGGACTTAAAGGAAAAGAAAGAGAGGGCCGGGTGCAGTGTTTCATGCCCGTAAGCCCAGCACCCGGGAGGCCAAGGCAGGAAGATTGCTTGAGCCCAGGAGTTCGAGACCAGTCTGGGCAACACAGTGAGACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGATGTGCACTTGAGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCTGTGATTGTGCTACTGTGCTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGGAAAAAGAAAGGAAAAGGAAGTGAGACCACCCCCATCCGCTTGTCATGTGAGGAAACAGTGAGAGGGTGACCACCTGTAAGCCGAAAGTGGACCCTCACTGGAACCCAACCAAGCTGGCACCCTGACCTTGGATTTTCAGCCCACAGAACTGTGAGAAATACATTTCTGTTTAAGCCGATCCATGGCAGTCCGTGCTAAGAAAGGCCCTAGCCCAGGGGCCGCATAGCCTGGACTCTGACAGCCTCCTGTAGGAATTCTGATCCGCAGGTGAGGGTCCATGCAGATTCTCTGCTGTGTTTCTGGGAGGCGAGGAGTTGGCAGGAGAGCTGTTTATGTTACAGTGAGCCGAACCCCCGCCCAGAGACCACAAAATTAATCAGAAAGAGGGCAACTGGCAGGGCGCCAGACCTCAGAAGGGGAAAGAATCGCAGGCCTTGGGTTTGGCCTTGTCACTTGTCATGAGCCAGAGCCTTGATTACCTAAACCGGAAGTCTTGTGAGCAGCACGGTGCTTGCTCTGGAGGAACCTGGGGTTTCTGAGAGGGACTGGGGTTGGGGGAGACGGTGGTGGGTGGGTGGTGGAGGGCTGTGCCCTTGGGATAAGGGAAAAGACAGCTGAGACACAGGCTCTGGGGTCGGAAATGAGAGCCAGGAGGGCACCCTGTCTGCAGTCTCTGGGGACCGGAGCACCAGCCCCTCCTCTGGGATCCCCTCCCAAGAGGGATTTGAGATCCGTGGACCCCTGAGCCCTGGCTGGGCAGGGTCAGAGGAGGGTGGGACAGGCGGCACGAGGTAAGTGTAGGGGTGCTGGATGCTGGGGCTCACTCCTCCAGCCTTTGCTGCCCTCTCTGGGGAGACACCCGTGAAGAGTCTGGGGGCGGCACAGAGAGGAGGACGAGAGGGAATGGCAGCGGGGGATACAAGGGCAGGGCACACTAGGGTCAGCATTGACCACGGGTGGGGAGGAGGCCAGTGGCCACTTCCCCGGGCCACCGCAGGTGGGCGTGGGGGGGCGGCGCCGGCACTCACCGAGGAGCAGCAGTGCGTTCCGGGGACGCGCCCGGCAGAGCCCAGGACTAGCAGCAGCGCGCAGCAGGCGGGCACGGGGCAGCTCATGGCGGCGGCGGCTCGGACTCGGGATCGGGATCCGGCTCCGGCTCTCTGGTCTCCCGCTCGGCCCCGCCCCCTGCCCCGACCCCGGTCACGTGCGCGCCAGACCCCGCCCCGGCCTGTCCCCGGCGATTCCTGCGGACCCAGCTGCGGCGACGCCAGGAGACCCCAAGCTGCATCGCCGAGTGGGTGAGTCCGTGGCCCGCGAGGGCGGCGAGCGGGGACCAGGGGCAGGGGGAGCGGACAGTGGCCGGGGTCGCCGGGGGCAGCCGACGCGGGGGCCAGCGCGGAGTCCTGAAGTGCGGGGGCCTCCCGTGGGGACCACTCCCCCGCCGCGTCCCTACCCGGGTCCCCGCGGCCCTCGGCCTTGCTCGGGGCCAAGGGACCGCGGACGGTCAGGTGGCGCAGGGTCTCCTCCGGAGACCCCAGGATCCGGAGCCAGCGGCCTTGTGGGCGGGGCCGGGGGCCGGGGAGTGGATTTTGCCCGGAGCGGAGCGGCCGGGGGCGTGGGGGGCTGGGGGTGAGGGTGGCGGCTCTGCGCGCGGGCGCCGGGGCCCTGGAAGATGCTGCGCACCTGAATTAACCGGGCGCCTCTGATGTCCTCCCAGAAGCAACTAGAACTCCAGGGCTGTGAAAGCCACAGGTGGGGGCTGAGCGAGGCGTGGCCTCAGGAGCGGAGGACCCCCCCACTCTCCCTCGAGCGCCGCAGTCCACCGTAGCGGGTGGAGCCCGCCTTGGTGCGCAGTTGGAAAACCTCGGAGCCCCGCTGGATCTCCTGGCTGCCACCCGCACCCCCCGCCAGCCTACGGTGCGCCCGCGGGCCCAGCTTCTCTCTGCGCTGCTCCCCGTTAAATTCCCTGGGGAGACGGAAAAAAAGGCAAAGGAAGTCGGTTCTCCAGGGGCCAGAAGTGTTGAGCCTAATTAGTCTTCAGACTTCTCAATGAGGAATCGCTTATCAGTTTCTTATCTGGGAGAGTTGAGGATGGAGGGACAGAAGGCACCCAGGATTTGCACGGGGGGGATTCAGGGAGAGAGGGTGATGAGGGACGGGGTGGGCCTTCCAGTCTTGGCCCAGTCCCCATCTTGCACACATTGTTGGCTTCCTCTTAGAGCCGTTCGCCCCCCTGGGGAGGGGAGACCCATAGTGACCTCTCCTGACACCCGCCGACCCTGACCAGTGTTGCCGGGTTCTTCAAAGGCCACGCTCTGACTGCTGGTCTGTGTCACCTGCACCCCCCAGCCCCACCGTAGAGATGCCTTCTTCGGTGACGGCGCTGGGTCAGGCCAGGTCCTCTGGCCCCGGGATGGCCCCGAGCGCCTGCTGCTGCTCCCCTGCGGCCCTGCAGAGGAGGCTGCCCATCCTGGCGTGGCTGCCCAGCTACTCCCTGCAGTGGCTGAAGATGGATTTCGTCGCCGGCCTCTCAGTTGGCCTCACTGCCATTCCCCAGGCGCTGGCCTATGCTGAAGTGGCTGGACTCCCGCCCCAGGTGAGGCGTCTGACCCTGCTGCCAGCCATATCTCAGAAACAGTGCAGAATACACAGTATCAATCCCAGACACCATCAGCGATTCCAGGTTTCCAGCCCCTGGGCCCCAAGGAACCTTTGGTTTACAGTGTGTGACGCAGATTGTCTCTGGGCCGACCCAGGCTCCTATGCCTGTTTGGCACACACAGACACTGAGCTGGTTATGGAGGGGCCAGCGAGATGACTCATGGAGGCCTCAGGAGTTCAAGACCAGCCCGACCAAAATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGGCTGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCGCAAGGTCAGGAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCN | pathogenic | 285,952 |
Gene SGSH variant at chromosome 17, position 80220297—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Mucopolysaccharidosis,_MPS-III-A'] | CTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCACGTAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACCCGCAGGCCAGGAAGAAAGCTGCCCTTCTCCAAACCCAGAGTGTCTCGGCACTTGGCTGTGGGCCTGCTATGGTCTGAACTGTGTCCTCCCAGAATTCATATGCTGAAGCCCTAACGTCAACATCACTGTATCTGGAGACAGGGTCCTTAATTAAGGGTAAATGAATCATAAGGATGAGATCCTGATCTGACAGGACTGTGGACTTAAAGGAAAAGAAAGAGAGGGCCGGGTGCAGTGTTTCATGCCCGTAAGCCCAGCACCCGGGAGGCCAAGGCAGGAAGATTGCTTGAGCCCAGGAGTTCGAGACCAGTCTGGGCAACACAGTGAGACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGATGTGCACTTGAGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCTGTGATTGTGCTACTGTGCTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGGAAAAAGAAAGGAAAAGGAAGTGAGACCACCCCCATCCGCTTGTCATGTGAGGAAACAGTGAGAGGGTGACCACCTGTAAGCCGAAAGTGGACCCTCACTGGAACCCAACCAAGCTGGCACCCTGACCTTGGATTTTCAGCCCACAGAACTGTGAGAAATACATTTCTGTTTAAGCCGATCCATGGCAGTCCGTGCTAAGAAAGGCCCTAGCCCAGGGGCCGCATAGCCTGGACTCTGACAGCCTCCTGTAGGAATTCTGATCCGCAGGTGAGGGTCCATGCAGATTCTCTGCTGTGTTTCTGGGAGGCGAGGAGTTGGCAGGAGAGCTGTTTATGTTACAGTGAGCCGAACCCCCGCCCAGAGACCACAAAATTAATCAGAAAGAGGGCAACTGGCAGGGCGCCAGACCTCAGAAGGGGAAAGAATCGCAGGCCTTGGGTTTGGCCTTGTCACTTGTCATGAGCCAGAGCCTTGATTACCTAAACCGGAAGTCTTGTGAGCAGCACGGTGCTTGCTCTGGAGGAACCTGGGGTTTCTGAGAGGGACTGGGGTTGGGGGAGACGGTGGTGGGTGGGTGGTGGAGGGCTGTGCCCTTGGGATAAGGGAAAAGACAGCTGAGACACAGGCTCTGGGGTCGGAAATGAGAGCCAGGAGGGCACCCTGTCTGCAGTCTCTGGGGACCGGAGCACCAGCCCCTCCTCTGGGATCCCCTCCCAAGAGGGATTTGAGATCCGTGGACCCCTGAGCCCTGGCTGGGCAGGGTCAGAGGAGGGTGGGACAGGCGGCACGAGGTAAGTGTAGGGGTGCTGGATGCTGGGGCTCACTCCTCCAGCCTTTGCTGCCCTCTCTGGGGAGACACCCGTGAAGAGTCTGGGGGCGGCACAGAGAGGAGGACGAGAGGGAATGGCAGCGGGGGATACAAGGGCAGGGCACACTAGGGTCAGCATTGACCACGGGTGGGGAGGAGGCCAGTGGCCACTTCCCCGGGCCACCGCAGGTGGGCGTGGGGGGGCGGCGCCGGCACTCACCGAGGAGCAGCAGTGCGTTCCGGGGACGCGCCCGGCAGAGCCCCAGGACTAGCAGCAGCGCGCAGCAGGCGGGCACGGGGCAGCTCATGGCGGCGGCGGCTCGGACTCGGGATCGGGATCCGGCTCCGGCTCTCTGGTCTCCCGCTCGGCCCCGCCCCCTGCCCCGACCCCGGTCACGTGCGCGCCAGACCCCGCCCCGGCCTGTCCCCGGCGATTCCTGCGGACCCAGCTGCGGCGACGCCAGGAGACCCCAAGCTGCATCGCCGAGTGGGTGAGTCCGTGGCCCGCGAGGGCGGCGAGCGGGGACCAGGGGCAGGGGGAGCGGACAGTGGCCGGGGTCGCCGGGGGCAGCCGACGCGGGGGCCAGCGCGGAGTCCTGAAGTGCGGGGGCCTCCCGTGGGGACCACTCCCCCGCCGCGTCCCTACCCGGGTCCCCGCGGCCCTCGGCCTTGCTCGGGGCCAAGGGACCGCGGACGGTCAGGTGGCGCAGGGTCTCCTCCGGAGACCCCAGGATCCGGAGCCAGCGGCCTTGTGGGCGGGGCCGGGGGCCGGGGAGTGGATTTTGCCCGGAGCGGAGCGGCCGGGGGCGTGGGGGGCTGGGGGTGAGGGTGGCGGCTCTGCGCGCGGGCGCCGGGGCCCTGGAAGATGCTGCGCACCTGAATTAACCGGGCGCCTCTGATGTCCTCCCAGAAGCAACTAGAACTCCAGGGCTGTGAAAGCCACAGGTGGGGGCTGAGCGAGGCGTGGCCTCAGGAGCGGAGGACCCCCCCACTCTCCCTCGAGCGCCGCAGTCCACCGTAGCGGGTGGAGCCCGCCTTGGTGCGCAGTTGGAAAACCTCGGAGCCCCGCTGGATCTCCTGGCTGCCACCCGCACCCCCCGCCAGCCTACGGTGCGCCCGCGGGCCCAGCTTCTCTCTGCGCTGCTCCCCGTTAAATTCCCTGGGGAGACGGAAAAAAAGGCAAAGGAAGTCGGTTCTCCAGGGGCCAGAAGTGTTGAGCCTAATTAGTCTTCAGACTTCTCAATGAGGAATCGCTTATCAGTTTCTTATCTGGGAGAGTTGAGGATGGAGGGACAGAAGGCACCCAGGATTTGCACGGGGGGGATTCAGGGAGAGAGGGTGATGAGGGACGGGGTGGGCCTTCCAGTCTTGGCCCAGTCCCCATCTTGCACACATTGTTGGCTTCCTCTTAGAGCCGTTCGCCCCCCTGGGGAGGGGAGACCCATAGTGACCTCTCCTGACACCCGCCGACCCTGACCAGTGTTGCCGGGTTCTTCAAAGGCCACGCTCTGACTGCTGGTCTGTGTCACCTGCACCCCCCAGCCCCACCGTAGAGATGCCTTCTTCGGTGACGGCGCTGGGTCAGGCCAGGTCCTCTGGCCCCGGGATGGCCCCGAGCGCCTGCTGCTGCTCCCCTGCGGCCCTGCAGAGGAGGCTGCCCATCCTGGCGTGGCTGCCCAGCTACTCCCTGCAGTGGCTGAAGATGGATTTCGTCGCCGGCCTCTCAGTTGGCCTCACTGCCATTCCCCAGGCGCTGGCCTATGCTGAAGTGGCTGGACTCCCGCCCCAGGTGAGGCGTCTGACCCTGCTGCCAGCCATATCTCAGAAACAGTGCAGAATACACAGTATCAATCCCAGACACCATCAGCGATTCCAGGTTTCCAGCCCCTGGGCCCCAAGGAACCTTTGGTTTACAGTGTGTGACGCAGATTGTCTCTGGGCCGACCCAGGCTCCTATGCCTGTTTGGCACACACAGACACTGAGCTGGTTATGGAGGGGCCAGCGAGATGACTCATGGAGGCCTCAGGAGTTCAAGACCAGCCCGACCAAAATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGGCTGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCGCAAGGTCAGGAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGTGCCACTGCCCTC | CTCACTGATGCCATCTCAAAGGCCTAGTGACCTTGCAGGTTGTCTATTTCAACCCTTTCATCCTACACAAAGCAGCTGAGGCCCAGAAAGGTGAGGTGCAGTGCCCAGGGCCACACACTGGGCAGCAGGAAACAGGGACAGGCCGCTGAACTCCTACAACCACACCAAGCTTCTTCCCCCTGCTCTGGAGTAGAGGACACTGGGGGCACCACAGGAGAGGCTGGTGGGAACCCCCAGACCAACACTTTCCCCAGCTCCCTCAGAGGCAATGTGGTCCATGGATGGACAGAGGAGGCTGGGCACCTTCCAGTTGGGCTTCCATCCTCCACCCCACAGTACCCACAGGTGTGAGCACATGGCAGCCACGTAAACCTGGAGGGAGAGCGGGATGGGCTGTGCTCCGTACCCGCAGGCCAGGAAGAAAGCTGCCCTTCTCCAAACCCAGAGTGTCTCGGCACTTGGCTGTGGGCCTGCTATGGTCTGAACTGTGTCCTCCCAGAATTCATATGCTGAAGCCCTAACGTCAACATCACTGTATCTGGAGACAGGGTCCTTAATTAAGGGTAAATGAATCATAAGGATGAGATCCTGATCTGACAGGACTGTGGACTTAAAGGAAAAGAAAGAGAGGGCCGGGTGCAGTGTTTCATGCCCGTAAGCCCAGCACCCGGGAGGCCAAGGCAGGAAGATTGCTTGAGCCCAGGAGTTCGAGACCAGTCTGGGCAACACAGTGAGACCTTGTCTCTACAAAAAATACAAAAATTAGCCAGGCATGGTGATGTGCACTTGAGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGCTTGAGCCTGGGAGATTGAGGCTGCAGTGAGCTGTGATTGTGCTACTGTGCTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCACAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAGAAAGGAAAAAGAAAGGAAAAGGAAGTGAGACCACCCCCATCCGCTTGTCATGTGAGGAAACAGTGAGAGGGTGACCACCTGTAAGCCGAAAGTGGACCCTCACTGGAACCCAACCAAGCTGGCACCCTGACCTTGGATTTTCAGCCCACAGAACTGTGAGAAATACATTTCTGTTTAAGCCGATCCATGGCAGTCCGTGCTAAGAAAGGCCCTAGCCCAGGGGCCGCATAGCCTGGACTCTGACAGCCTCCTGTAGGAATTCTGATCCGCAGGTGAGGGTCCATGCAGATTCTCTGCTGTGTTTCTGGGAGGCGAGGAGTTGGCAGGAGAGCTGTTTATGTTACAGTGAGCCGAACCCCCGCCCAGAGACCACAAAATTAATCAGAAAGAGGGCAACTGGCAGGGCGCCAGACCTCAGAAGGGGAAAGAATCGCAGGCCTTGGGTTTGGCCTTGTCACTTGTCATGAGCCAGAGCCTTGATTACCTAAACCGGAAGTCTTGTGAGCAGCACGGTGCTTGCTCTGGAGGAACCTGGGGTTTCTGAGAGGGACTGGGGTTGGGGGAGACGGTGGTGGGTGGGTGGTGGAGGGCTGTGCCCTTGGGATAAGGGAAAAGACAGCTGAGACACAGGCTCTGGGGTCGGAAATGAGAGCCAGGAGGGCACCCTGTCTGCAGTCTCTGGGGACCGGAGCACCAGCCCCTCCTCTGGGATCCCCTCCCAAGAGGGATTTGAGATCCGTGGACCCCTGAGCCCTGGCTGGGCAGGGTCAGAGGAGGGTGGGACAGGCGGCACGAGGTAAGTGTAGGGGTGCTGGATGCTGGGGCTCACTCCTCCAGCCTTTGCTGCCCTCTCTGGGGAGACACCCGTGAAGAGTCTGGGGGCGGCACAGAGAGGAGGACGAGAGGGAATGGCAGCGGGGGATACAAGGGCAGGGCACACTAGGGTCAGCATTGACCACGGGTGGGGAGGAGGCCAGTGGCCACTTCCCCGGGCCACCGCAGGTGGGCGTGGGGGGGCGGCGCCGGCACTCACCGAGGAGCAGCAGTGCGTTCCGGGGACGCGCCCGGCAGAGCCCCAGGACTAGCAGCAGCGCGCAGCAGGCGGGCTCATGGCGGCGGCGGCTCGGACTCGGGATCGGGATCCGGCTCCGGCTCTCTGGTCTCCCGCTCGGCCCCGCCCCCTGCCCCGACCCCGGTCACGTGCGCGCCAGACCCCGCCCCGGCCTGTCCCCGGCGATTCCTGCGGACCCAGCTGCGGCGACGCCAGGAGACCCCAAGCTGCATCGCCGAGTGGGTGAGTCCGTGGCCCGCGAGGGCGGCGAGCGGGGACCAGGGGCAGGGGGAGCGGACAGTGGCCGGGGTCGCCGGGGGCAGCCGACGCGGGGGCCAGCGCGGAGTCCTGAAGTGCGGGGGCCTCCCGTGGGGACCACTCCCCCGCCGCGTCCCTACCCGGGTCCCCGCGGCCCTCGGCCTTGCTCGGGGCCAAGGGACCGCGGACGGTCAGGTGGCGCAGGGTCTCCTCCGGAGACCCCAGGATCCGGAGCCAGCGGCCTTGTGGGCGGGGCCGGGGGCCGGGGAGTGGATTTTGCCCGGAGCGGAGCGGCCGGGGGCGTGGGGGGCTGGGGGTGAGGGTGGCGGCTCTGCGCGCGGGCGCCGGGGCCCTGGAAGATGCTGCGCACCTGAATTAACCGGGCGCCTCTGATGTCCTCCCAGAAGCAACTAGAACTCCAGGGCTGTGAAAGCCACAGGTGGGGGCTGAGCGAGGCGTGGCCTCAGGAGCGGAGGACCCCCCCACTCTCCCTCGAGCGCCGCAGTCCACCGTAGCGGGTGGAGCCCGCCTTGGTGCGCAGTTGGAAAACCTCGGAGCCCCGCTGGATCTCCTGGCTGCCACCCGCACCCCCCGCCAGCCTACGGTGCGCCCGCGGGCCCAGCTTCTCTCTGCGCTGCTCCCCGTTAAATTCCCTGGGGAGACGGAAAAAAAGGCAAAGGAAGTCGGTTCTCCAGGGGCCAGAAGTGTTGAGCCTAATTAGTCTTCAGACTTCTCAATGAGGAATCGCTTATCAGTTTCTTATCTGGGAGAGTTGAGGATGGAGGGACAGAAGGCACCCAGGATTTGCACGGGGGGGATTCAGGGAGAGAGGGTGATGAGGGACGGGGTGGGCCTTCCAGTCTTGGCCCAGTCCCCATCTTGCACACATTGTTGGCTTCCTCTTAGAGCCGTTCGCCCCCCTGGGGAGGGGAGACCCATAGTGACCTCTCCTGACACCCGCCGACCCTGACCAGTGTTGCCGGGTTCTTCAAAGGCCACGCTCTGACTGCTGGTCTGTGTCACCTGCACCCCCCAGCCCCACCGTAGAGATGCCTTCTTCGGTGACGGCGCTGGGTCAGGCCAGGTCCTCTGGCCCCGGGATGGCCCCGAGCGCCTGCTGCTGCTCCCCTGCGGCCCTGCAGAGGAGGCTGCCCATCCTGGCGTGGCTGCCCAGCTACTCCCTGCAGTGGCTGAAGATGGATTTCGTCGCCGGCCTCTCAGTTGGCCTCACTGCCATTCCCCAGGCGCTGGCCTATGCTGAAGTGGCTGGACTCCCGCCCCAGGTGAGGCGTCTGACCCTGCTGCCAGCCATATCTCAGAAACAGTGCAGAATACACAGTATCAATCCCAGACACCATCAGCGATTCCAGGTTTCCAGCCCCTGGGCCCCAAGGAACCTTTGGTTTACAGTGTGTGACGCAGATTGTCTCTGGGCCGACCCAGGCTCCTATGCCTGTTTGGCACACACAGACACTGAGCTGGTTATGGAGGGGCCAGCGAGATGACTCATGGAGGCCTCAGGAGTTCAAGACCAGCCCGACCAAAATGGTGAAACCCCGTCTCCACTAAAAATACAAAAATTAGGCTGGGTGCGGTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCGCAAGGTCAGGAGATGGAGACCATCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGACTGTGCCACTGCCCTCNNNNNNNNNN | pathogenic | 285,953 |
Is chromosome 17, position 81510872, gene ACTG1 (actin gamma 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGCCAAATATTTACCCAAGATGTCAAGTCATCTAGTTTTTCCTAAATAATGGAAAAAGCCGTCTCAGGACTTCCCTCCCAGCCTGCTTATGATGTTGCTTCAGTTATCTCCAACACCCAAACCCACTAGGCTGCCTTGTTCTTGCACTTTCGATTTGGAAGAAATCGAACTGCTCAGTTTATTGTTAAGCCGTTTTCTCACCAGCCCACGAAGCCAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTGTTCTGGCCAAAGACATCAGCTAAGAAAGGAAACTGGGTCCTACGGCTTGGACTTTCCAACCCTGACAGACCCGCAAGACAAAACAACTGGTTCTTGCCAGCCTCTAGAGAAATCCCAGAACACTCAGCCCTGACACGTTAATACCCTGCACAGATCAGAGGCTGCTGGCCACACAGACTCACCAAGCCACAGACTTGTCTTCCACAAGCACGTTCTTACCTTAGCCACGAAGTGACCAAGCCACACGTACTAAAGGTTGAACTCAAAGATATGTACAGGGTATTAAACAAATACCAAGGGGAACAGTTAACTTCAATACAAGGTCAAAATCAGCAACAAGTTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAAGGCTTATTCCAGTTTCGTGAGGCTAGCATGAGGTGTGTGCATTTGCCAGGGGCAAATTTCTATTCTCAATTAACCCATGCAGCAAATGCTACGCATCTGCTGAGTCCGTTTAGAAGCATTTGCGGTGGACGATGGAGGGGCCCGACTCGTCGTACTCCTGCTTGCTAATCCACATCTGCTGGAAGGTGGACAGTGAGGCCAGGATGGAGCCACCGATCCACACCGAGTACTTGCGCTCTGGGGGTGCGATGATCTGCAAAGACAGCCAGGCACGGCTTCAGCTCACAGAGCGCCCCCCAGTCAGCTCTCCCGAGCCAGGCAGAGGGCCACCAACCCCTCGACTCACCTTGATCTTCATGGTGCTGGGCGCCAGGGCGGTGATCTCCTTCTGCATCCTGTCGGCAATGCCCGGGTACATGGTGGTGCCGCCCGACAGCACCGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTGGTCTCGTGGATGCCGCAAGATTCCATACCTAGGGGACAGAGCCCTCCCTTAGTGATGCTGTGTCACCGAGGATGTAAGAGTAGAAACCTTTAGCTCACAACACCTACCCAGGAAGGAAGGCTGGAACAGCGCCTCCGGACACCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCATCGGGCAGCTCGTAGCTCTTCTCCAGAGAAGAGGAGGATGCGGCGGTGGCCATCTCCTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCTCGCTCAGTGAGGATCTTCATGAGGTAGTCGGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCGTGGGGGAGGGCGTAGCCCTCGTAGATGGGCACCGTGTGGGTGACCCCGTCTCCAGAGTCCATGACAATGCCAGTGGTGCGCCCAGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCCGGGGTGTTGAAGGTCTCAAACATAATCTGAGAAGGGACAAGGGGCGGCTTAGTCAGGGACAGAGACCCACGGCCACCCCATGCTCACACGCCACAACATGCTGCATGCCAGTGTGATGTGTGGAGAAAAGAAAAGAACGCAGGCAGAAACCAAATGAGAAACCTGGAGGCTTCAGGGAGGAAATGCCGGGAGAGGAACAGAGCCTGGAACAGCGAAAGAAACACTTAAATGTCAGAAATCAAGCCGGGCAGAAAATGACTGGGGAAAGGACGGGAGGAGCACGGGCGTCGGCCGAGCCTCACCTGAGTCATCTTCTCTCTGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACTGGGTGCTCCTCCGGGGCCACGCGCAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCGTCCCAGTTGGTGACGATGCCATGCTCAATGGGGTACTTCAGGGTCAGGATGCCACGCTTGCTCTGGGCCTCGTCGCCCACGTAGGAGTCCTTCTGGCCCATGCCCACCATGACGCCCTGCAGGGGACGACCCGTCAGCCTCGCCGGCGACACCGAACCCACCCCGCAACGCAGAACCCAGGAGCCCCGCGGCGCCATCCACTCACCTGGTGTCTGGGGCGCCCGACGATGGAAGGAAACACGGCTCGGGGAGCGTCGTCCCCAGCAAAACCAGCTTTGCACATGCCGGAGCCATTGTCAATGACCAGCGCGGCGATCTCTTCTTCCATTGCGACCTGCCCGGAAAAGGATGGACTCAGGCGGGCGCGTCTGTAACACGGTCCCCTCCCCACAGCCACCTAATGCCCTCCCGCGGGGAAGCCTCGGCCCTGCCCCAACCCCAGCGGCCGTGGCCTCCAAGATCGCAACCGCCTGGAACCGAAGGCCGGGCCTTTTACGTAACGTCCACGGCTCGGAAGTCTGCACTGCGGCCGGGCCCCGCCCTGGACCCCCGGCGCCCCCCCAGCCCCGTCCGCCTGACCCGGCCCACCCCGCCTTTTGTTCCCGGGGAAGGCGCGACGAGGCCTCGGCAGCTGGAAGCGGGGCCAGCCGGGGTCGGGGGGCGCAGGCCTGCGACGTCCAGCTCAGGCCCCGGGGCGGGGCGCTCACCGGCAGAGAAACGCGACGGCGGAGCGGCGGAAGAACAGAGTGCGAGAGCTGGCAGCGGCGACTGAGACCGACCGCGGCCTCCCCCGCCGTTATTTAAGCGGAAGCGGCGCGCCCGCGCGGCCCGGCGGCGCGCGCGGCCCCAGAACATGTCCATATATGGCGATCTTTCCGAAAGCCGGGCACCCA | AGCTGCAGCTTTCAACGCTTCGAGAGTGCGTGACTGTCCCTGGTCCCCATGCCCTGGCCAGTGCTCAGAACTACCCATCTCCTGATTTCTGCTCATCTGATAGCCACAAACTGGCATCTAATTTGTTTTAATGTGCATTTGCTGATGCCCAGTGTCCATGAGCATCTCACAGTTTGTCCTGTAAGTGCAATGCTTCACAGGACAAAGAGAATTTCTATCTTTTGCAGGTATCAGAGTCGCTGAGAAGAGTCATGCTGTGATGTGAGGTCACAGAACAAGGTAGGGTGGGAGCCTGGAGCTCAGTAAGCTCTCTGCAATTTATGTTTGCCTCCACCCCGACCCCCACCAAGCTTGAGCCTCCTCTCCCCCATCCCCATATGGGAGGGGGAGCTAGGAAGCACCACCACCTCTGCTTGAGTAAAATCTCTTCCAACAGCAGAACGATCCCTTGACCCGACTTAACATGAAATAGTTCCAAATCTCTTTTCAACTGGTAGAGATCTTCCTTCCCTGTCCCAACCTCCAAATGACTTCTGCAGCTGTAAGCAGTTCAGAGGAGCTATGCATTGGACTCCCAATCCCATCTACAGAGGCTCTCCCCTGGCACCTGCGGGGAGAAAAGCTGAAGTACAAAGGGCACTGGCTGAGCCTCTTACACCAGGTGAGGCCCTCGTTATTGGTAGATACTGAGTTCCAGGATTCAGTAACTAGCCAACTCCATGACTGCTGCGCTCTTTACACAAAGTAAAACTATCTCATATCACACGTCCACCTGAGGGCTGGGGGGAAACTAAGGCAGGCCCCTGCTGATTCAGGTGGTTATTTTATGCCAAATATTTACCCAAGATGTCAAGTCATCTAGTTTTTCCTAAATAATGGAAAAAGCCGTCTCAGGACTTCCCTCCCAGCCTGCTTATGATGTTGCTTCAGTTATCTCCAACACCCAAACCCACTAGGCTGCCTTGTTCTTGCACTTTCGATTTGGAAGAAATCGAACTGCTCAGTTTATTGTTAAGCCGTTTTCTCACCAGCCCACGAAGCCAAGCTGAGCAGCACCCACCGCCCCCACCCCCAAGACTACCCAATACTTCCAGGTTGGTCTGTCTTTCCCAGCCCACTTGCTACTTCCCCAAACAGGAGCCATTCATTGGTTACGGCAGCACTTTTATTTTTCCTTACACAATGACGTGTTGCTGGGGCCTAATGTTCTCACATAACAGTAGAAAACCAAAATTTGTTGTCATCTCTTCAAAGAATCGAGAATTGCGTACAAAAAAAACCTTACATAAATTAAGAATGAATACATTTACAGGCGTAAATGCAAACCGCTTCCAACTCAAAGCAAGTAACAGCCCACGGTGTTCTGGCCAAAGACATCAGCTAAGAAAGGAAACTGGGTCCTACGGCTTGGACTTTCCAACCCTGACAGACCCGCAAGACAAAACAACTGGTTCTTGCCAGCCTCTAGAGAAATCCCAGAACACTCAGCCCTGACACGTTAATACCCTGCACAGATCAGAGGCTGCTGGCCACACAGACTCACCAAGCCACAGACTTGTCTTCCACAAGCACGTTCTTACCTTAGCCACGAAGTGACCAAGCCACACGTACTAAAGGTTGAACTCAAAGATATGTACAGGGTATTAAACAAATACCAAGGGGAACAGTTAACTTCAATACAAGGTCAAAATCAGCAACAAGTTCTACAATCCAGTGCTGATATCAGATACAAGCTTCAAGGACAATTTCTTTTCGAAGGCTTATTCCAGTTTCGTGAGGCTAGCATGAGGTGTGTGCATTTGCCAGGGGCAAATTTCTATTCTCAATTAACCCATGCAGCAAATGCTACGCATCTGCTGAGTCCGTTTAGAAGCATTTGCGGTGGACGATGGAGGGGCCCGACTCGTCGTACTCCTGCTTGCTAATCCACATCTGCTGGAAGGTGGACAGTGAGGCCAGGATGGAGCCACCGATCCACACCGAGTACTTGCGCTCTGGGGGTGCGATGATCTGCAAAGACAGCCAGGCACGGCTTCAGCTCACAGAGCGCCCCCAGTCAGCTCTCCCGAGCCAGGCAGAGGGCCACCAACCCCTCGACTCACCTTGATCTTCATGGTGCTGGGCGCCAGGGCGGTGATCTCCTTCTGCATCCTGTCGGCAATGCCCGGGTACATGGTGGTGCCGCCCGACAGCACCGTGTTGGCGTACAGGTCTTTGCGGATGTCCACGTCACACTTCATGATGGAGTTGAAGGTGGTCTCGTGGATGCCGCAAGATTCCATACCTAGGGGACAGAGCCCTCCCTTAGTGATGCTGTGTCACCGAGGATGTAAGAGTAGAAACCTTTAGCTCACAACACCTACCCAGGAAGGAAGGCTGGAACAGCGCCTCCGGACACCGGAACCGCTCATTGCCAATGGTGATGACCTGGCCATCGGGCAGCTCGTAGCTCTTCTCCAGAGAAGAGGAGGATGCGGCGGTGGCCATCTCCTGCTCGAAGTCCAGGGCGACGTAGCACAGCTTCTCCTTGATGTCGCGCACGATTTCCCGCTCGGCCGTGGTGGTGAAGCTGTAGCCTCGCTCAGTGAGGATCTTCATGAGGTAGTCGGTCAGGTCCCGGCCAGCCAGGTCCAGACGCAGGATGGCGTGGGGGAGGGCGTAGCCCTCGTAGATGGGCACCGTGTGGGTGACCCCGTCTCCAGAGTCCATGACAATGCCAGTGGTGCGCCCAGAGGCGTAGAGGGACAGCACGGCCTGGATGGCCACGTACATGGCCGGGGTGTTGAAGGTCTCAAACATAATCTGAGAAGGGACAAGGGGCGGCTTAGTCAGGGACAGAGACCCACGGCCACCCCATGCTCACACGCCACAACATGCTGCATGCCAGTGTGATGTGTGGAGAAAAGAAAAGAACGCAGGCAGAAACCAAATGAGAAACCTGGAGGCTTCAGGGAGGAAATGCCGGGAGAGGAACAGAGCCTGGAACAGCGAAAGAAACACTTAAATGTCAGAAATCAAGCCGGGCAGAAAATGACTGGGGAAAGGACGGGAGGAGCACGGGCGTCGGCCGAGCCTCACCTGAGTCATCTTCTCTCTGTTGGCCTTGGGGTTCAGGGGGGCCTCGGTCAGCAGCACTGGGTGCTCCTCCGGGGCCACGCGCAGCTCGTTGTAGAAGGTGTGGTGCCAGATCTTCTCCATGTCGTCCCAGTTGGTGACGATGCCATGCTCAATGGGGTACTTCAGGGTCAGGATGCCACGCTTGCTCTGGGCCTCGTCGCCCACGTAGGAGTCCTTCTGGCCCATGCCCACCATGACGCCCTGCAGGGGACGACCCGTCAGCCTCGCCGGCGACACCGAACCCACCCCGCAACGCAGAACCCAGGAGCCCCGCGGCGCCATCCACTCACCTGGTGTCTGGGGCGCCCGACGATGGAAGGAAACACGGCTCGGGGAGCGTCGTCCCCAGCAAAACCAGCTTTGCACATGCCGGAGCCATTGTCAATGACCAGCGCGGCGATCTCTTCTTCCATTGCGACCTGCCCGGAAAAGGATGGACTCAGGCGGGCGCGTCTGTAACACGGTCCCCTCCCCACAGCCACCTAATGCCCTCCCGCGGGGAAGCCTCGGCCCTGCCCCAACCCCAGCGGCCGTGGCCTCCAAGATCGCAACCGCCTGGAACCGAAGGCCGGGCCTTTTACGTAACGTCCACGGCTCGGAAGTCTGCACTGCGGCCGGGCCCCGCCCTGGACCCCCGGCGCCCCCCCAGCCCCGTCCGCCTGACCCGGCCCACCCCGCCTTTTGTTCCCGGGGAAGGCGCGACGAGGCCTCGGCAGCTGGAAGCGGGGCCAGCCGGGGTCGGGGGGCGCAGGCCTGCGACGTCCAGCTCAGGCCCCGGGGCGGGGCGCTCACCGGCAGAGAAACGCGACGGCGGAGCGGCGGAAGAACAGAGTGCGAGAGCTGGCAGCGGCGACTGAGACCGACCGCGGCCTCCCCCGCCGTTATTTAAGCGGAAGCGGCGCGCCCGCGCGGCCCGGCGGCGCGCGCGGCCCCAGAACATGTCCATATATGGCGATCTTTCCGAAAGCCGGGCACCCAN | benign | 286,160 |
Does the variant impacting MRPL12 (mitochondrial ribosomal protein L12) on chromosome 17, position 81704228, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGGAGTGGTGATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCGGGCCTCAGCCTCCCGAGTAGCTGGACTACAGGTGCACCCCATTACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGCGACGGTGTTTCACCATGTTGGCCAGGCTGGTCGTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGGCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGACCTGCATCAACGTTTGCTCAGGGGGCAGGTGGTCAGGCTGATGGCCCAGCTGCAGGCAGGGTCATTTCCAGCCTGCCCCTCCCTGAGGCTGCGTGCCAGGGTTCATGTGTGCCCTCCGCGGCTCTGCACTGACCCCGCCGGTAGCTGGGGAGGAGTTTGGGCTTGGCGCCTCCTTCGTGTAGTGGCTGAAGCTTCCCGGGTGCTCCTCATTCCTGGGAAGGGAGTCGGGTGATGGGAACGGTGGGAGCTCAGCGCTCCGAGTCTGCGGCCGGGGGCCAGCGGGGCTGAAACGCGCCTCCTGAGTGTTGAAAGCGGCAGGCGCCGGCCTTTGCACCCAGAGGCCAGGGCGTCTCACTCACCTTCACATCCAGGCCTCTTAGGGGAGCGCGGCTTTGGCTTTTCCAGGAAGGAATGGACTCCAACGGACAGGGAAAGAAGAAGTGTGGAGAGACGGGCAGGATAAGCAGGCACTGGGCCCAAGCCGCCCTTGGAGGCTCTGCCTGTTCTGATCTGAAGGCGGAGGCTCAGCCGTGCTCTCCCAGGAAGCCACCTGGGCGTTTGGGGCTTTAGCTAGGAAAGAGGATGTCGCCTGCGGCTGCGAAGGCGCCAAAGCCCAGACCTCGCGCCTCCGCCCGCGACGGCGGCACTGGGGGCCCGGAGCGGGCGGGAGACGTGGATTACTGCGGGCTTCGGGGCCCTAGCCTCGACCGCGACGTTCGCTCGCATCGCGTACGGACAGAAACCCGTGAGCGCTGAAGAAAGAACACCTGAATCCGGAGCCCCAGCCCCCGTCGCTCGTTTGCGCGACCCCAAAACCTGGCGGGACGAGGGTCGCCCGATGTCTAGCTGCCGCCACAGACGACGCTTTTGCGTCTGCGCAGCGCGCCGCCTTGTGGGTAATCTCAGGGTGAGACGAGGCTAGCGCGAGGTACGGCTAGAGCGTCATTTCCGGCTCGAATGCCCGGCAGCCGTGGCGGCTAGAGCGTTCCTCCCCAGCTCGAATGCCCGGCGGCCGAGGCGGCTAGAGCGTCGCCTCCTCCCGGGGAACCGCGTGTGACCTTCCAGCCCGCGGACCGATGCTGCCGGCGGCCGCTCGCCCCCTGTGGGGGCCTTGCCTTGGGCTTCGGGCCGCTGCGTTCCGCCTTGCCAGGTACGCGGGATCCTGGGGCGGTCCGGGCCGGCAGGCGGGTTAGGGGGCAGCCGGGCACTGAGGGGTCGATCCGGGCGAGGAGGGCGGCGGGGCCGGCCTCCCTGCAGCGGCCAGGCCGGGCTTGGGGGTCCCATCGGGGGCGCGGGGAGGAGGCCTCCCGGTGCGCACGCCCCTTCCCTCCTGGGCCGTGGAAAGCGCCGGGGTCGGCCCCAGATGACCTTGGACGATTCCCTGCTCCTCCCTTGGCCTCAGCCTTTTCCGCAGCAAAGGCCCATCCGTGGGTGCGGCGTTTTGCGGCCAGGGGCCCCCATGTTTTGGGAGGCTTTGCGCAGGAAGATGCACCTAAGTAATAGTTTCGCCACCGCTGGGTTGATGTAGTTCATTCAAACCAGAAACTTGAGGTTTGAGTGGTATGGCTGCAAATAAACACGTGGCTTTCTAAGGCTCTTTGAAGAATTTAAAGTAACTTGCAAATCTTATCAATACGGACCCCTTGAGGTCTGAGAACCCTGGACTGGGACCAAGGAGCTAGGTAATTTCCGGCCCTAGTGATTACCAGCCTGAGCTTATGGCACCCACCAGTCCCCCAGTTGTCCTGCCCCTCTGGTTTCTGCAGCCCCTTCCATTCCAGGACTGACAAGTCTGTTTTAATTGGGGGTGGGGGCTAGGCGACAGGTGCCATGTGTCTGTGCCGTGCGACATATGAGGAGCAGCGGCCATCAGAGGTGTGAGGCCCTCGCTGGTGCACCCCTGGATAACGCCCCCAAGGAGTACCCCCCCAAGATACAGCAGCTGGTCCAGGACATCGCCAGCCTCACTCTCTTGGAAATCTCAGACCTCAACGAGCTCCTGAAGGTATCGTGAGAGGGTGGCACAGACCCAGGGGCTGGAAGTTTCAGGGCCCCTGTGTTTTGTTCCTGGTGTATTTTGGGAGTTTGGTAAATTGTCAAAAGTGTGTTTGTCCAGGTGCAAGGTCCATGCCAGGCTAGTTGCCCCTCCTCAGTAGGTTCCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCCAGTTCGCCTGTGGCCTCATGTGCCGTGGTCCCGTATCTCAGGTTCTGCAGCTACCGTCATTGTCTGCAGCCTGCACACCTGTGCGGCATCCTGCAGCCTCCTGGGACCTACTCCCTGCCACGGATGTGCACGACTTTGCATGTGGAGACCATGTTTCTAATGGAGGGAAACAGACACTAAGCTGAGAGAGGAAAAAGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCGCTTCGGGAGGCCGAGACGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCTGGGCCTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGACTGTCTCAAACAAACAAACAAAATAAATAAATAAAAATAAAAATAAATAAATAAATAAAAATACAAAAATTAGCCGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATACTACTGCCTTCCAACTTGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAAGAAAGGAAGAAATTATACCAAATAGAACATTGTAAGCATTGTGGGGAAAAGGAGGGAAGAGGCTCAAGGTGGGAGGGAGAGTTCCAAGTTCAAGGTGGGCTTCAAAGAGGAGGCAGACATTGTAGAAGAGAGCACGGCCTTCCTGGCGGAGGACGGGGAGGCACCAAGGTCACCAGGCAAGAGGGTGTCTGACAATTCAGGGAGCAGCAGCGAGGTACAGGCTGGCGCAGGCGAAGGGGTGTAACAAGCAGCTCCGTCCTTGGGTCTTTGCAAGGAAACCAGTGAACTTGAAGCCGCCAGTTGCGTTTGGTCATCGGGTTGCGTGAACCTCTCCACCGGAGCCCTCCCCTCAGCCCCTTTCCCCCACTGGGGAACCAGGTTGTGTACTGTAGAGTGTCCCATGTTCCAGATGCGTGGGGTGCCCATGGGGCAGCATCACTCATGCCTGAGAACTGGAAGGTAGTTTAAAGGCTGATTAGATTCAGGCCGAGCGTTTGGGTAAGAATAGCTGGGATTACTGTAGAGCCTGTTGTGTAAACTGGATTGCTTTTGAGGAGGGAGAAGATGTTATTAATAGCCTTCCCAGGCCGTGGGGACACGCAGCCCCCTGCCCTCGGGTGGTGCTGGGTCTCCATGCGCCACGTCAGAAGCGCAGCGTGCCCGTCAGTCCCATGGCGGGTTGTCATTTTCTCGGCACACGTGCACTGCAGTGTGGCTGAGAAAGGAATGGCGCTGCTTTTATCTACAAAGCACTTTTGGTGTCGTTCTTTCCTGTCTCATAAGTTACGCTTTCTAAGCGAGAGGGGAGTAGAGTATTGAGGGAAGGACTGTGAAGCATGTTTTTATTTATTTATG | TGGAGTGGTGATCTCCGCTCACTGCAAGCTCCGCCTCCTGGGTTCAAGCGATTCTCGGGCCTCAGCCTCCCGAGTAGCTGGACTACAGGTGCACCCCATTACCATGCCTGGCTAGTTTTTGTATTTTTAGTAGCGACGGTGTTTCACCATGTTGGCCAGGCTGGTCGTGAACGCCTAACCTCAGGTGATCCACCTGCCTCGGGCTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGACCTGCATCAACGTTTGCTCAGGGGGCAGGTGGTCAGGCTGATGGCCCAGCTGCAGGCAGGGTCATTTCCAGCCTGCCCCTCCCTGAGGCTGCGTGCCAGGGTTCATGTGTGCCCTCCGCGGCTCTGCACTGACCCCGCCGGTAGCTGGGGAGGAGTTTGGGCTTGGCGCCTCCTTCGTGTAGTGGCTGAAGCTTCCCGGGTGCTCCTCATTCCTGGGAAGGGAGTCGGGTGATGGGAACGGTGGGAGCTCAGCGCTCCGAGTCTGCGGCCGGGGGCCAGCGGGGCTGAAACGCGCCTCCTGAGTGTTGAAAGCGGCAGGCGCCGGCCTTTGCACCCAGAGGCCAGGGCGTCTCACTCACCTTCACATCCAGGCCTCTTAGGGGAGCGCGGCTTTGGCTTTTCCAGGAAGGAATGGACTCCAACGGACAGGGAAAGAAGAAGTGTGGAGAGACGGGCAGGATAAGCAGGCACTGGGCCCAAGCCGCCCTTGGAGGCTCTGCCTGTTCTGATCTGAAGGCGGAGGCTCAGCCGTGCTCTCCCAGGAAGCCACCTGGGCGTTTGGGGCTTTAGCTAGGAAAGAGGATGTCGCCTGCGGCTGCGAAGGCGCCAAAGCCCAGACCTCGCGCCTCCGCCCGCGACGGCGGCACTGGGGGCCCGGAGCGGGCGGGAGACGTGGATTACTGCGGGCTTCGGGGCCCTAGCCTCGACCGCGACGTTCGCTCGCATCGCGTACGGACAGAAACCCGTGAGCGCTGAAGAAAGAACACCTGAATCCGGAGCCCCAGCCCCCGTCGCTCGTTTGCGCGACCCCAAAACCTGGCGGGACGAGGGTCGCCCGATGTCTAGCTGCCGCCACAGACGACGCTTTTGCGTCTGCGCAGCGCGCCGCCTTGTGGGTAATCTCAGGGTGAGACGAGGCTAGCGCGAGGTACGGCTAGAGCGTCATTTCCGGCTCGAATGCCCGGCAGCCGTGGCGGCTAGAGCGTTCCTCCCCAGCTCGAATGCCCGGCGGCCGAGGCGGCTAGAGCGTCGCCTCCTCCCGGGGAACCGCGTGTGACCTTCCAGCCCGCGGACCGATGCTGCCGGCGGCCGCTCGCCCCCTGTGGGGGCCTTGCCTTGGGCTTCGGGCCGCTGCGTTCCGCCTTGCCAGGTACGCGGGATCCTGGGGCGGTCCGGGCCGGCAGGCGGGTTAGGGGGCAGCCGGGCACTGAGGGGTCGATCCGGGCGAGGAGGGCGGCGGGGCCGGCCTCCCTGCAGCGGCCAGGCCGGGCTTGGGGGTCCCATCGGGGGCGCGGGGAGGAGGCCTCCCGGTGCGCACGCCCCTTCCCTCCTGGGCCGTGGAAAGCGCCGGGGTCGGCCCCAGATGACCTTGGACGATTCCCTGCTCCTCCCTTGGCCTCAGCCTTTTCCGCAGCAAAGGCCCATCCGTGGGTGCGGCGTTTTGCGGCCAGGGGCCCCCATGTTTTGGGAGGCTTTGCGCAGGAAGATGCACCTAAGTAATAGTTTCGCCACCGCTGGGTTGATGTAGTTCATTCAAACCAGAAACTTGAGGTTTGAGTGGTATGGCTGCAAATAAACACGTGGCTTTCTAAGGCTCTTTGAAGAATTTAAAGTAACTTGCAAATCTTATCAATACGGACCCCTTGAGGTCTGAGAACCCTGGACTGGGACCAAGGAGCTAGGTAATTTCCGGCCCTAGTGATTACCAGCCTGAGCTTATGGCACCCACCAGTCCCCCAGTTGTCCTGCCCCTCTGGTTTCTGCAGCCCCTTCCATTCCAGGACTGACAAGTCTGTTTTAATTGGTGGGGGCTAGGCGACAGGTGCCATGTGTCTGTGCCGTGCGACATATGAGGAGCAGCGGCCATCAGAGGTGTGAGGCCCTCGCTGGTGCACCCCTGGATAACGCCCCCAAGGAGTACCCCCCCAAGATACAGCAGCTGGTCCAGGACATCGCCAGCCTCACTCTCTTGGAAATCTCAGACCTCAACGAGCTCCTGAAGGTATCGTGAGAGGGTGGCACAGACCCAGGGGCTGGAAGTTTCAGGGCCCCTGTGTTTTGTTCCTGGTGTATTTTGGGAGTTTGGTAAATTGTCAAAAGTGTGTTTGTCCAGGTGCAAGGTCCATGCCAGGCTAGTTGCCCCTCCTCAGTAGGTTCCGGCTGGTGTGAGGGCCAGCTGTGGACACTGTTCTCTATCTCTGCAGAAAACGTTGAAGATCCAGGATGTCGGGCTTGTGCCGATGGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCCAGGAGGTGAGTCCTGGGCAGAATGAGGCATTTCTGGGGTGCCCAGTTCGCCTGTGGCCTCATGTGCCGTGGTCCCGTATCTCAGGTTCTGCAGCTACCGTCATTGTCTGCAGCCTGCACACCTGTGCGGCATCCTGCAGCCTCCTGGGACCTACTCCCTGCCACGGATGTGCACGACTTTGCATGTGGAGACCATGTTTCTAATGGAGGGAAACAGACACTAAGCTGAGAGAGGAAAAAGAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCCAGCGCTTCGGGAGGCCGAGACGGGTGGATCACTTGAGGTCAGGAGTTCGAGGCCAGCCTGGCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAATTAGCTGGGCCTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGACTGTCTCAAACAAACAAACAAAATAAATAAATAAAAATAAAAATAAATAAATAAATAAAAATACAAAAATTAGCCGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATTGCTTGAACCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATACTACTGCCTTCCAACTTGGCAACAGAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAGGAAAAAGAAAGGAAGAAATTATACCAAATAGAACATTGTAAGCATTGTGGGGAAAAGGAGGGAAGAGGCTCAAGGTGGGAGGGAGAGTTCCAAGTTCAAGGTGGGCTTCAAAGAGGAGGCAGACATTGTAGAAGAGAGCACGGCCTTCCTGGCGGAGGACGGGGAGGCACCAAGGTCACCAGGCAAGAGGGTGTCTGACAATTCAGGGAGCAGCAGCGAGGTACAGGCTGGCGCAGGCGAAGGGGTGTAACAAGCAGCTCCGTCCTTGGGTCTTTGCAAGGAAACCAGTGAACTTGAAGCCGCCAGTTGCGTTTGGTCATCGGGTTGCGTGAACCTCTCCACCGGAGCCCTCCCCTCAGCCCCTTTCCCCCACTGGGGAACCAGGTTGTGTACTGTAGAGTGTCCCATGTTCCAGATGCGTGGGGTGCCCATGGGGCAGCATCACTCATGCCTGAGAACTGGAAGGTAGTTTAAAGGCTGATTAGATTCAGGCCGAGCGTTTGGGTAAGAATAGCTGGGATTACTGTAGAGCCTGTTGTGTAAACTGGATTGCTTTTGAGGAGGGAGAAGATGTTATTAATAGCCTTCCCAGGCCGTGGGGACACGCAGCCCCCTGCCCTCGGGTGGTGCTGGGTCTCCATGCGCCACGTCAGAAGCGCAGCGTGCCCGTCAGTCCCATGGCGGGTTGTCATTTTCTCGGCACACGTGCACTGCAGTGTGGCTGAGAAAGGAATGGCGCTGCTTTTATCTACAAAGCACTTTTGGTGTCGTTCTTTCCTGTCTCATAAGTTACGCTTTCTAAGCGAGAGGGGAGTAGAGTATTGAGGGAAGGACTGTGAAGCATGTTTTTATTTATTTATGNNN | benign | 286,349 |
Gene PYCR1 (pyrroline-5-carboxylate reductase 1) variant at chromosome position 81934320 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_cutis_laxa_type_2B', 'PYCR1-related_de_Barsy_syndrome'] | TATGTGTCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAACTGATAGCACCCTCCCAGGGAGGTCAGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCCCGAGCTCTAGAGGAAGGTGGTCCTGACATGGTTTGGGAGCAGAGAAGAAAGGAGGTTGAGGTTGGGGAATCCACCCCTGTTCTGGGCTGGGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAGGGAGAGGTTGGCTTTGGAGCACAAGCGTGCACCCAGGAAGAGGGAGTGAAGCCCACAGCTCCCAGTGCCAGTCAGCCCTGGGCGATGCTGTCACCCTCACCTCAGCACCTTTATTCCCCTCTGCCAGCGACACGCCCCCACACAGCTGCTGGGCTCCTTCTCACCTCATTCGAATCAGCTCAGCATCACCAAATCTCCCCGCAGTGCCCCCCAGACCTGAGTTCTCGTGGCCCCACCACGGGATGTGGGTTTACACCTGTCTCCCCTGCAGGCTGGAGGTGAGGCCAGGCCCCTCGTGTTCCCCTCACTGTTACAGGGTGGCACTCGCAGAGTCTGAGGGTGTCTGGACTGGAGAGTGGGCAGTGTGGCGAGAAAGACGTCCTCACCCACCCTGCAGACCTGAACTGGGGACAGCGGCTCCCAGCCTGGCTCTGCCTTTGACCAGCTGTGGGATCCCAGGCAAACAGCAAACTCTGTCTTTCTCTTGCTCTTTGCTTCTTTCACCTTCCATGGAATTTTCCTTGTGCCTGGATGTTGCTGCGTGTCCTACTGGTCTAACTTAATCCCACAGCGAGGGCAGGAGGAAGGTGGGCCCCCACAGAAGTTTCCTAATGTGGCTGGCCACCCCGCCACCCCACTGGTGTGGCCCCTGGCTCAAATGACACTCCTAGCTATGACAATGGTGAACCTATGTGGGGAGCACAGGGCACAGCATCCGGGTCCCTCTATGGATGTTCCCTCCTCGCAGGAAACGGAAGGTGGGGAGGGGCACTGCCCACAGTAACCCAGGGAACCTCGGGGCCCCCTGTGTCCTGCGCAACACTGGGCTGGAGCTCAATACGTATCTGCTGAGTGCGTGAATGAGCAGATGTGTGTGAGAGAGGCCTCTGCCATGCAAGGACTGGAGACCAGGGAAGCGGGCAGCGCGGGGGCCCACCGTGTGCGGATGCAGGAGGCCTCCACAGCGTTGATGAGCAGGGAGCGGAAGCCCCCACTCTCCAGCACATGCAAGGCATGGATGGTGGCCCCACCAGGAGAGCTGACGTTGTCCTTGAGCTGGCCTGGGTGCTGTTCTGAGTGCAGCAGCATCTTGGCAGCCCCCTGCAGCCAGAAGAAAGGCTGACGGCTGTGGGCACGCACCTGCCTCTGCGGGGCACTGCCCCAGCCACTGTAGCACACACTGACGCCCCACTTGGCTCCTCCCAGTGAAGCCCCAGGGCCCCGCAAAGAGTGGCCCCACCAGAGGGTCAGGAAACACACTGACCAGGAGGGCCTGGGCCCCGAGGCGGACTGCCAGGCGCCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA | TATGTGTCCACTTGACTGGGCTACAGGGTGCCTGAGTGTTTGGTCAAACATTATTCTGTTTCTGGCAGGGGTGGGGAGGGGTTGCATGAGACTAACATTTGAATCTGTAGACTTTTGCATTAGATTACATTGACATTTTAATCAGTAAGGCAGATGCCCTCCAAGATGTGGGCGGGCCTTGTCTAATCAGTTGAAGGCCTCCACTATTCCACCCACAGTAACCACCCTCCCACACAGGCAGGGCCTCCCTCCTCATGTGGCAGACAGAAGTCAGGACACTGGGGGCTGGAAACCAACTTATAAAACTGAAAGGGCCAGGACAGAACTGATAGCACCCTCCCAGGGAGGTCAGGAGCAGGAGGTGGTGGCCACAGAAGTTCACCAGCAGCCCAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCCCGAGCTCTAGAGGAAGGTGGTCCTGACATGGTTTGGGAGCAGAGAAGAAAGGAGGTTGAGGTTGGGGAATCCACCCCTGTTCTGGGCTGGGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAGGGAGAGGTTGGCTTTGGAGCACAAGCGTGCACCCAGGAAGAGGGAGTGAAGCCCACAGCTCCCAGTGCCAGTCAGCCCTGGGCGATGCTGTCACCCTCACCTCAGCACCTTTATTCCCCTCTGCCAGCGACACGCCCCCACACAGCTGCTGGGCTCCTTCTCACCTCATTCGAATCAGCTCAGCATCACCAAATCTCCCCGCAGTGCCCCCCAGACCTGAGTTCTCGTGGCCCCACCACGGGATGTGGGTTTACACCTGTCTCCCCTGCAGGCTGGAGGTGAGGCCAGGCCCCTCGTGTTCCCCTCACTGTTACAGGGTGGCACTCGCAGAGTCTGAGGGTGTCTGGACTGGAGAGTGGGCAGTGTGGCGAGAAAGACGTCCTCACCCACCCTGCAGACCTGAACTGGGGACAGCGGCTCCCAGCCTGGCTCTGCCTTTGACCAGCTGTGGGATCCCAGGCAAACAGCAAACTCTGTCTTTCTCTTGCTCTTTGCTTCTTTCACCTTCCATGGAATTTTCCTTGTGCCTGGATGTTGCTGCGTGTCCTACTGGTCTAACTTAATCCCACAGCGAGGGCAGGAGGAAGGTGGGCCCCCACAGAAGTTTCCTAATGTGGCTGGCCACCCCGCCACCCCACTGGTGTGGCCCCTGGCTCAAATGACACTCCTAGCTATGACAATGGTGAACCTATGTGGGGAGCACAGGGCACAGCATCCGGGTCCCTCTATGGATGTTCCCTCCTCGCAGGAAACGGAAGGTGGGGAGGGGCACTGCCCACAGTAACCCAGGGAACCTCGGGGCCCCCTGTGTCCTGCGCAACACTGGGCTGGAGCTCAATACGTATCTGCTGAGTGCGTGAATGAGCAGATGTGTGTGAGAGAGGCCTCTGCCATGCAAGGACTGGAGACCAGGGAAGCGGGCAGCGCGGGGGCCGTGTGCGGATGCAGGAGGCCTCCACAGCGTTGATGAGCAGGGAGCGGAAGCCCCCACTCTCCAGCACATGCAAGGCATGGATGGTGGCCCCACCAGGAGAGCTGACGTTGTCCTTGAGCTGGCCTGGGTGCTGTTCTGAGTGCAGCAGCATCTTGGCAGCCCCCTGCAGCCAGAAGAAAGGCTGACGGCTGTGGGCACGCACCTGCCTCTGCGGGGCACTGCCCCAGCCACTGTAGCACACACTGACGCCCCACTTGGCTCCTCCCAGTGAAGCCCCAGGGCCCCGCAAAGAGTGGCCCCACCAGAGGGTCAGGAAACACACTGACCAGGAGGGCCTGGGCCCCGAGGCGGACTGCCAGGCGCCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACANNNN | pathogenic | 286,439 |
The genetic variant at chromosome 17, position 81934710, affecting gene PYCR1 (pyrroline-5-carboxylate reductase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cutis_laxa'] | CAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCCCGAGCTCTAGAGGAAGGTGGTCCTGACATGGTTTGGGAGCAGAGAAGAAAGGAGGTTGAGGTTGGGGAATCCACCCCTGTTCTGGGCTGGGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAGGGAGAGGTTGGCTTTGGAGCACAAGCGTGCACCCAGGAAGAGGGAGTGAAGCCCACAGCTCCCAGTGCCAGTCAGCCCTGGGCGATGCTGTCACCCTCACCTCAGCACCTTTATTCCCCTCTGCCAGCGACACGCCCCCACACAGCTGCTGGGCTCCTTCTCACCTCATTCGAATCAGCTCAGCATCACCAAATCTCCCCGCAGTGCCCCCCAGACCTGAGTTCTCGTGGCCCCACCACGGGATGTGGGTTTACACCTGTCTCCCCTGCAGGCTGGAGGTGAGGCCAGGCCCCTCGTGTTCCCCTCACTGTTACAGGGTGGCACTCGCAGAGTCTGAGGGTGTCTGGACTGGAGAGTGGGCAGTGTGGCGAGAAAGACGTCCTCACCCACCCTGCAGACCTGAACTGGGGACAGCGGCTCCCAGCCTGGCTCTGCCTTTGACCAGCTGTGGGATCCCAGGCAAACAGCAAACTCTGTCTTTCTCTTGCTCTTTGCTTCTTTCACCTTCCATGGAATTTTCCTTGTGCCTGGATGTTGCTGCGTGTCCTACTGGTCTAACTTAATCCCACAGCGAGGGCAGGAGGAAGGTGGGCCCCCACAGAAGTTTCCTAATGTGGCTGGCCACCCCGCCACCCCACTGGTGTGGCCCCTGGCTCAAATGACACTCCTAGCTATGACAATGGTGAACCTATGTGGGGAGCACAGGGCACAGCATCCGGGTCCCTCTATGGATGTTCCCTCCTCGCAGGAAACGGAAGGTGGGGAGGGGCACTGCCCACAGTAACCCAGGGAACCTCGGGGCCCCCTGTGTCCTGCGCAACACTGGGCTGGAGCTCAATACGTATCTGCTGAGTGCGTGAATGAGCAGATGTGTGTGAGAGAGGCCTCTGCCATGCAAGGACTGGAGACCAGGGAAGCGGGCAGCGCGGGGGCCCACCGTGTGCGGATGCAGGAGGCCTCCACAGCGTTGATGAGCAGGGAGCGGAAGCCCCCACTCTCCAGCACATGCAAGGCATGGATGGTGGCCCCACCAGGAGAGCTGACGTTGTCCTTGAGCTGGCCTGGGTGCTGTTCTGAGTGCAGCAGCATCTTGGCAGCCCCCTGCAGCCAGAAGAAAGGCTGACGGCTGTGGGCACGCACCTGCCTCTGCGGGGCACTGCCCCAGCCACTGTAGCACACACTGACGCCCCACTTGGCTCCTCCCAGTGAAGCCCCAGGGCCCCGCAAAGAGTGGCCCCACCAGAGGGTCAGGAAACACACTGACCAGGAGGGCCTGGGCCCCGAGGCGGACTGCCAGGCGCCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAACAGTTCCTCTTCATGGCTAGCTTTGGCTTCCCTCCCTCCCCATTCCCAGGAAGAAGAGTGAGACAGCACAGGTAAAGCCCCAAACACACAGAAGTTGCCAGTTCCCGCAGGACTCAGGCCTTGTGACCCAGCACCCACCTTCAGCCCCCAGCCCTGCAGAAGTGGAAAGAGGCCAGTCTCTCCCACTGGGCCTCACCGTCCCCCACCTGGGGGCCTACCTGCTGCTGT | CAAGGAGCCCTTTCCCCAAATGTCCATGGGATCTGCGTGCTTGGCAGCCAAGAGGGGCTGTGGCCCTTCACGCTGGACTTGGGATGCCTGGACCCTCTGGCCCTTCTCACACGGGAAGGAGAGGTTTCTCCCTGAATGGAGGGCAGGGAGGGGCCGGGAGGGGGCGTGGGATCCCACCTCTGCTGAGCCTTCACAGAGGGGGTCCTTGACCTTTGCTCTCAGGAAGGAGCCCGTGCCAGCTGATACTGGAGTAGGAGTGGGTGAAGACCCTCCGGGCTCCCGAGCTCTAGAGGAAGGTGGTCCTGACATGGTTTGGGAGCAGAGAAGAAAGGAGGTTGAGGTTGGGGAATCCACCCCTGTTCTGGGCTGGGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAGGGAGAGGTTGGCTTTGGAGCACAAGCGTGCACCCAGGAAGAGGGAGTGAAGCCCACAGCTCCCAGTGCCAGTCAGCCCTGGGCGATGCTGTCACCCTCACCTCAGCACCTTTATTCCCCTCTGCCAGCGACACGCCCCCACACAGCTGCTGGGCTCCTTCTCACCTCATTCGAATCAGCTCAGCATCACCAAATCTCCCCGCAGTGCCCCCCAGACCTGAGTTCTCGTGGCCCCACCACGGGATGTGGGTTTACACCTGTCTCCCCTGCAGGCTGGAGGTGAGGCCAGGCCCCTCGTGTTCCCCTCACTGTTACAGGGTGGCACTCGCAGAGTCTGAGGGTGTCTGGACTGGAGAGTGGGCAGTGTGGCGAGAAAGACGTCCTCACCCACCCTGCAGACCTGAACTGGGGACAGCGGCTCCCAGCCTGGCTCTGCCTTTGACCAGCTGTGGGATCCCAGGCAAACAGCAAACTCTGTCTTTCTCTTGCTCTTTGCTTCTTTCACCTTCCATGGAATTTTCCTTGTGCCTGGATGTTGCTGCGTGTCCTACTGGTCTAACTTAATCCCACAGCGAGGGCAGGAGGAAGGTGGGCCCCCACAGAAGTTTCCTAATGTGGCTGGCCACCCCGCCACCCCACTGGTGTGGCCCCTGGCTCAAATGACACTCCTAGCTATGACAATGGTGAACCTATGTGGGGAGCACAGGGCACAGCATCCGGGTCCCTCTATGGATGTTCCCTCCTCGCAGGAAACGGAAGGTGGGGAGGGGCACTGCCCACAGTAACCCAGGGAACCTCGGGGCCCCCTGTGTCCTGCGCAACACTGGGCTGGAGCTCAATACGTATCTGCTGAGTGCGTGAATGAGCAGATGTGTGTGAGAGAGGCCTCTGCCATGCAAGGACTGGAGACCAGGGAAGCGGGCAGCGCGGGGGCCCACCGTGTGCGGATGCAGGAGGCCTCCACAGCGTTGATGAGCAGGGAGCGGAAGCCCCCACTCTCCAGCACATGCAAGGCATGGATGGTGGCCCCACCAGGAGAGCTGACGTTGTCCTTGAGCTGGCCTGGGTGCTGTTCTGAGTGCAGCAGCATCTTGGCAGCCCCCTGCAGCCAGAAGAAAGGCTGACGGCTGTGGGCACGCACCTGCCTCTGCGGGGCACTGCCCCAGCCACTGTAGCACACACTGACGCCCCACTTGGCTCCTCCCAGTGAAGCCCCAGGGCCCCGCAAAGAGTGGCCCCACCAGAGGGTCAGGAAACACACTGACCAGGAGGGCCTGGGCCCCGAGGCGGACTGCCAGGCGCCTTGGAAGTCCCATCTTCACACCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAACAGTTCCTCTTCATGGCTAGCTTTGGCTTCCCTCCCTCCCCATTCCCAGGAAGAAGAGTGAGACAGCACAGGTAAAGCCCCAAACACACAGAAGTTGCCAGTTCCCGCAGGACTCAGGCCTTGTGACCCAGCACCCACCTTCAGCCCCCAGCCCTGCAGAAGTGGAAAGAGGCCAGTCTCTCCCACTGGGCCTCACCGTCCCCCACCTGGGGGCCTACCTGCTGCTGTN | pathogenic | 286,446 |
Variant at chromosome 17, position 81935079, gene PYCR1 (pyrroline-5-carboxylate reductase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_recessive_cutis_laxa_type_2B', 'PYCR1-related_de_Barsy_syndrome'] | GGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAGGGAGAGGTTGGCTTTGGAGCACAAGCGTGCACCCAGGAAGAGGGAGTGAAGCCCACAGCTCCCAGTGCCAGTCAGCCCTGGGCGATGCTGTCACCCTCACCTCAGCACCTTTATTCCCCTCTGCCAGCGACACGCCCCCACACAGCTGCTGGGCTCCTTCTCACCTCATTCGAATCAGCTCAGCATCACCAAATCTCCCCGCAGTGCCCCCCAGACCTGAGTTCTCGTGGCCCCACCACGGGATGTGGGTTTACACCTGTCTCCCCTGCAGGCTGGAGGTGAGGCCAGGCCCCTCGTGTTCCCCTCACTGTTACAGGGTGGCACTCGCAGAGTCTGAGGGTGTCTGGACTGGAGAGTGGGCAGTGTGGCGAGAAAGACGTCCTCACCCACCCTGCAGACCTGAACTGGGGACAGCGGCTCCCAGCCTGGCTCTGCCTTTGACCAGCTGTGGGATCCCAGGCAAACAGCAAACTCTGTCTTTCTCTTGCTCTTTGCTTCTTTCACCTTCCATGGAATTTTCCTTGTGCCTGGATGTTGCTGCGTGTCCTACTGGTCTAACTTAATCCCACAGCGAGGGCAGGAGGAAGGTGGGCCCCCACAGAAGTTTCCTAATGTGGCTGGCCACCCCGCCACCCCACTGGTGTGGCCCCTGGCTCAAATGACACTCCTAGCTATGACAATGGTGAACCTATGTGGGGAGCACAGGGCACAGCATCCGGGTCCCTCTATGGATGTTCCCTCCTCGCAGGAAACGGAAGGTGGGGAGGGGCACTGCCCACAGTAACCCAGGGAACCTCGGGGCCCCCTGTGTCCTGCGCAACACTGGGCTGGAGCTCAATACGTATCTGCTGAGTGCGTGAATGAGCAGATGTGTGTGAGAGAGGCCTCTGCCATGCAAGGACTGGAGACCAGGGAAGCGGGCAGCGCGGGGGCCCACCGTGTGCGGATGCAGGAGGCCTCCACAGCGTTGATGAGCAGGGAGCGGAAGCCCCCACTCTCCAGCACATGCAAGGCATGGATGGTGGCCCCACCAGGAGAGCTGACGTTGTCCTTGAGCTGGCCTGGGTGCTGTTCTGAGTGCAGCAGCATCTTGGCAGCCCCCTGCAGCCAGAAGAAAGGCTGACGGCTGTGGGCACGCACCTGCCTCTGCGGGGCACTGCCCCAGCCACTGTAGCACACACTGACGCCCCACTTGGCTCCTCCCAGTGAAGCCCCAGGGCCCCGCAAAGAGTGGCCCCACCAGAGGGTCAGGAAACACACTGACCAGGAGGGCCTGGGCCCCGAGGCGGACTGCCAGGCGCCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAACAGTTCCTCTTCATGGCTAGCTTTGGCTTCCCTCCCTCCCCATTCCCAGGAAGAAGAGTGAGACAGCACAGGTAAAGCCCCAAACACACAGAAGTTGCCAGTTCCCGCAGGACTCAGGCCTTGTGACCCAGCACCCACCTTCAGCCCCCAGCCCTGCAGAAGTGGAAAGAGGCCAGTCTCTCCCACTGGGCCTCACCGTCCCCCACCTGGGGGCCTACCTGCTGCTGTGAAGCCCTTGGCCAGGGCAAAAGCCAGCTGGCCAGCGCCGATGAAGCCCACGCTCATGCTGTCCGGAGACCCCTGGCCCAAAGCCCCCACAGATGGCACCGGCTCTGCGGGACGAGACCGGCAGGATCGAGAGCAAGTTAGGGGGGCAGTGCCAGCCTGGCCGCTCCTCCCGCAGCCGGGTGCCCACCTCCCCTGGTCCCAGCTGGTCTAACTTTCCACTTTGCTGTCCGGCCCGTTAACTGCTTCGGGGCCCCCAGTCAGAGCGGCGGTGCCTGGCCTGCTGCCTAGGGTCCCGCACCCACTGGAGGGGTGGAGGTTCCGCAGAAGAAATGACTGGGAAGGGGGAAAAGTACGGGGAGAGGGAGGGCC | GGAAGCACTTGCAGACCACAGAGATTTCCAGTGGGAAGTGATGTGGCCCCTCCCTGGCTATGTCCCTGGCTGGCCCCTGCGCTGATCAGAGCCACAGAAAGTGGGCCACTTTGGGGACCCCCTAGTCCCCCTAGTGACAAGAGAAGAGAAGGTGGTGGCAGGATGGTGGTCAGGCAGGACGTGTCAATCCTTGCCCGCTGGGGCCAGGCTGCGGGGGAGCAGCTTGGTGTGGCCAGAAGGTGACAGAGCGGTCCCTGCAGGGGAGTCCAGCTTCACCTTGTCCAGGATGGTCTTCTTGATGGCGGCTGGTGACACCTGCTCCTGGTCAGCCATGGACTGCAGCTCCCTAGAGAGGCAGGGAGAGGTTGGCTTTGGAGCACAAGCGTGCACCCAGGAAGAGGGAGTGAAGCCCACAGCTCCCAGTGCCAGTCAGCCCTGGGCGATGCTGTCACCCTCACCTCAGCACCTTTATTCCCCTCTGCCAGCGACACGCCCCCACACAGCTGCTGGGCTCCTTCTCACCTCATTCGAATCAGCTCAGCATCACCAAATCTCCCCGCAGTGCCCCCCAGACCTGAGTTCTCGTGGCCCCACCACGGGATGTGGGTTTACACCTGTCTCCCCTGCAGGCTGGAGGTGAGGCCAGGCCCCTCGTGTTCCCCTCACTGTTACAGGGTGGCACTCGCAGAGTCTGAGGGTGTCTGGACTGGAGAGTGGGCAGTGTGGCGAGAAAGACGTCCTCACCCACCCTGCAGACCTGAACTGGGGACAGCGGCTCCCAGCCTGGCTCTGCCTTTGACCAGCTGTGGGATCCCAGGCAAACAGCAAACTCTGTCTTTCTCTTGCTCTTTGCTTCTTTCACCTTCCATGGAATTTTCCTTGTGCCTGGATGTTGCTGCGTGTCCTACTGGTCTAACTTAATCCCACAGCGAGGGCAGGAGGAAGGTGGGCCCCCACAGAAGTTTCCTAATGTGGCTGGCCACCCCGCCACCCCACTGGTGTGGCCCCTGGCTCAAATGACACTCCTAGCTATGACAATGGTGAACCTATGTGGGGAGCACAGGGCACAGCATCCGGGTCCCTCTATGGATGTTCCCTCCTCGCAGGAAACGGAAGGTGGGGAGGGGCACTGCCCACAGTAACCCAGGGAACCTCGGGGCCCCCTGTGTCCTGCGCAACACTGGGCTGGAGCTCAATACGTATCTGCTGAGTGCGTGAATGAGCAGATGTGTGTGAGAGAGGCCTCTGCCATGCAAGGACTGGAGACCAGGGAAGCGGGCAGCGCGGGGGCCCACCGTGTGCGGATGCAGGAGGCCTCCACAGCGTTGATGAGCAGGGAGCGGAAGCCCCCACTCTCCAGCACATGCAAGGCATGGATGGTGGCCCCACCAGGAGAGCTGACGTTGTCCTTGAGCTGGCCTGGGTGCTGTTCTGAGTGCAGCAGCATCTTGGCAGCCCCCTGCAGCCAGAAGAAAGGCTGACGGCTGTGGGCACGCACCTGCCTCTGCGGGGCACTGCCCCAGCCACTGTAGCACACACTGACGCCCCACTTGGCTCCTCCCAGTGAAGCCCCAGGGCCCCGCAAAGAGTGGCCCCACCAGAGGGTCAGGAAACACACTGACCAGGAGGGCCTGGGCCCCGAGGCGGACTGCCAGGCGCCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCTGCGCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAACAGTTCCTCTTCATGGCTAGCTTTGGCTTCCCTCCCTCCCCATTCCCAGGAAGAAGAGTGAGACAGCACAGGTAAAGCCCCAAACACACAGAAGTTGCCAGTTCCCGCAGGACTCAGGCCTTGTGACCCAGCACCCACCTTCAGCCCCCAGCCCTGCAGAAGTGGAAAGAGGCCAGTCTCTCCCACTGGGCCTCACCGTCCCCCACCTGGGGGCCTACCTGCTGCTGTGAAGCCCTTGGCCAGGGCAAAAGCCAGCTGGCCAGCGCCGATGAAGCCCACGCTCATGCTGTCCGGAGACCCCTGGCCCAAAGCCCCCACAGATGGCACCGGCTCTGCGGGACGAGACCGGCAGGATCGAGAGCAAGTTAGGGGGGCAGTGCCAGCCTGGCCGCTCCTCCCGCAGCCGGGTGCCCACCTCCCCTGGTCCCAGCTGGTCTAACTTTCCACTTTGCTGTCCGGCCCGTTAACTGCTTCGGGGCCCCCAGTCAGAGCGGCGGTGCCTGGCCTGCTGCCTAGGGTCCCGCACCCACTGGAGGGGTGGAGGTTCCGCAGAAGAAATGACTGGGAAGGGGGAAAAGTACGGGGAGAGGGAG | pathogenic | 286,457 |
Is the chromosome 17, position 81936737 variant in PYCR1 (pyrroline-5-carboxylate reductase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAACAGTTCCTCTTCATGGCTAGCTTTGGCTTCCCTCCCTCCCCATTCCCAGGAAGAAGAGTGAGACAGCACAGGTAAAGCCCCAAACACACAGAAGTTGCCAGTTCCCGCAGGACTCAGGCCTTGTGACCCAGCACCCACCTTCAGCCCCCAGCCCTGCAGAAGTGGAAAGAGGCCAGTCTCTCCCACTGGGCCTCACCGTCCCCCACCTGGGGGCCTACCTGCTGCTGTGAAGCCCTTGGCCAGGGCAAAAGCCAGCTGGCCAGCGCCGATGAAGCCCACGCTCATGCTGTCCGGAGACCCCTGGCCCAAAGCCCCCACAGATGGCACCGGCTCTGCGGGACGAGACCGGCAGGATCGAGAGCAAGTTAGGGGGGCAGTGCCAGCCTGGCCGCTCCTCCCGCAGCCGGGTGCCCACCTCCCCTGGTCCCAGCTGGTCTAACTTTCCACTTTGCTGTCCGGCCCGTTAACTGCTTCGGGGCCCCCAGTCAGAGCGGCGGTGCCTGGCCTGCTGCCTAGGGTCCCGCACCCACTGGAGGGGTGGAGGTTCCGCAGAAGAAATGACTGGGAAGGGGGAAAAGTACGGGGAGAGGGAGGGCCCGGCGCCTAGGGGTCCCCCGTCTGGGTTCCCACCCCGCCCAGAACTGGGCTACCGTCGCGCCCCACCCGGCGACCGCCGCCCACCATTCCCGGAGCCCGACCCCAACCCAGCTACCGTGCGCGGGTCGTACCCACCCCTCAGCGCTGCGGCCGCCACGCGGCACCCGCACCCAGGCCCCGCCCCCGTCGCGCCAGCGAATCCGGGCGCGGCCGCCAGGCGCTGGCCAATCAGAGCGCGCGGCGGCGCCAGAGCGGTTGCATCATCTGCGCGCCCCTCCCACGCCGACCGCCGGCCCTCGCCTCTCTCGCGCCCCGGGATCCCCCGGCCCCCGGATAGACACCCTCTCCGGCACGCGGTCCCCTGACCCGCGCTCCTCCTGGTCGCGCTTCCCGGGACCTACACGTGGGGTCCGAGGACGCGGGCGGAGGGGGCGGCCCGATTGGGGCCTGTGAGGGGCCCTCCACGCAGGGCTTTGTCTTGGGCCACCCGGACACGGACGCGTCCAGCTGGCGTCCCTGGGCGCGCGGCCGGCTCTCTCTGGGAATCAGTCCCTTCTACTGTCATCGAGTTTGGAGAAGCCCGGCTGTACAGCGTTTTCTTTCCTTTTTTTTTTTCCCTTGGGGGCAGAGTTGAAAATAATTTGCCAAGTGGAAGCATTTTAAATATATCACCATTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAATTAACCGGGCGTGGTGACAGGTGCCTGTAATTCCAGCTACTCGAGAAGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCGGGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCCATCTGAAAAAAAGAGAGAGAGAAAGAAAGGAAGAAAAGAAGAAAAGAAAAGAAAGAGGCATGACAGTGCGGCCACAGGTGTTCCTCTAACTGGGCACGCAGCGGTGCTCCACTAAGCAAACGAAGGAAGCCCACCCCATCATGCCCCCACTCCCACGCAGCCCGGAGCATCCTCCAATACCCAAACCTCTCGCCTGCCTGGGTTTTAGGGGGAGTGAAGCTCCAGTCACTTCCCCCTGAGGACATGCTCAGAGTTCATCTGATTCGGGCCTGCATCTGGGGCTCTGGATAGTCAGGGTCCCTGTCGGTGGCCAAGATTAAGGGCGAAGTCAGAAGGGATCACTGGCAGCCCATTCCCCTGCCAAGGGGTGAGAGGAGCTGCCTTATTTTTTCTGTGCTGTATCTTAGATGATGACAGGCTATTCTAGCACATCATTTCAGAAGGCCTGGGATGCTTCTGCCACAGCGGCAGGGCCACGCGTTCTGGCTATCTGTCTACCTGGTCCCCCCACCGTGAACACGTAATGACCACCACCAACACTGGGAGGCTGCTCTGTGGTGGCCATGGGAAGAGCTTGTCCAGATGGACAGCTCAAACCTGGGGCACGGAGGCTAGCATCGCCTAGGCGCTTTGAGAGCCAAGCTCCCCAGGCTGTTACAAAATCACTTTTCCCCAAGTGATAACAGCAAGTAACACTTTT | CCTTGGAAGTCCCATCTTCACACCCCCATCAGCCAGGGCATCCAGGGCTGTGAATGCCTGTGGGGAGAAGGCACCCTGAGCCTCTCTCCTGGGCTTCTCCTCCTTCCCTTCTGGGCAAGCTCCAGTTCCCACAGCCTTGGAGCCCTCCACCCTGGCCCTCCCAGGGGGAGCAGGGACAGATGTGCCCGGTGGTCCCGGGAAGTGCCCGCCGCCGCCAGCTTCCCCCGCAGTCCTTACGTAGGCGGGGCCGCTGCCACTGAGCCCCGTGACGGCATCAATCAGGTCCTCTTCCACCTCCGTGCAGAAGCCCACGCTGCTCAGCAGCTGCTCCATGAGCCTCCCGTCCTCCACCTGGGCGTGCGTGCCTGTGGCATACACGGTGGCCCCCTCCCGCACCACGACTGGAGTGTTGGTCATGCAGCGGATGACCCTGGGGGCTGGCCGAAACGCTGACAGCTTCTGGAAGAGAAACCAGCGTGTCCGTCTGGCCATGGACGCAGTGCCTAGATGCACTCACCCCACCAAGCAGTGCCCGAGCTCTCCCAGTGGGCCGGGACGCTGCAACCCTTTTGCAGATGAAAACTGAAGTACTGAGGGCCCGGGCTCTAGACAGCCCCTCTCCACACCCCACTGGGCCTGCGGTGCTACCTTCTCAATGGAGCTGATGGTGACGCCGGCCGCGCAGGACACCACAATGTGTCTGTCCTCAATGTCGGCGCCTATTTCATCCAGGATGAAGGGGATGATGTGTGGCTTCACAGCCAGGAAGAGCACATCACTGTGCTGCACCGTCTCCTTGTTGTGGGGTGTCAACTTCACCCCCATCTTCTGCAGGGGCAACAGGTGGGCTCAGCCTGGTCCCGTGGCTGTCTGTACCCCCACCAAGCCAAGAGCCCCACAGGTAGAATGGCACAGAGAATGCTGGAGTTGGGGGTGGGCAGGGCTGGGGGCTCAGGGCTCTGACCACCCCCTTGATGACCCTTCCCACCCAGAAATGGAGGAAGAACTCTGTGTGGAATATGTCCCTGCTGCAGACAGAAAAGGACCCTCCATCCATGCCACCAATCTGCCCCCAGCCTGGGACTGCCGTCCTCCAGACCGGGCTCTCCACGTGGGAGTGGTGGTCTCAAGCAGCCCCCAGGTGTGTTCCTTGGCTGCCAGGCTGTGGCCCCACCTGCCAGGCCCCCAGAGGACCCCTCGAAACTTTAACCCTGTGCAGGGAACTCCATTCCAGAACAACACCCTCCTATCAGCTGTACACACGCCCACCACCCAGGTCCCAAGAGCAATCAGCAGGGCGAGGAGGTGGGGTCCATGAGACCCCAGCCCAGGGCCCCTGCCCTCACTGGGGTGGGGGCTACAGCACACACTCCTGCCTCTCACACCCAGCCCCACAGGGACTCAGTCTCCTTTCTCCCTTTCATCTGCACCTACCCTGAGAGCAGAAACTGTGGCCAGGTCCATGTCTGGGGAGCTAGCCATTATCTTGTGGGCAGCCAAGACGCCTGAGGGGAGAAACAGTTCCTCTTCAGTTCTTTATTATTTTTTTTTTTTTGAGACGGAGTCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATGCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTGGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAACAGTTCCTCTTCATGGCTAGCTTTGGCTTCCCTCCCTCCCCATTCCCAGGAAGAAGAGTGAGACAGCACAGGTAAAGCCCCAAACACACAGAAGTTGCCAGTTCCCGCAGGACTCAGGCCTTGTGACCCAGCACCCACCTTCAGCCCCCAGCCCTGCAGAAGTGGAAAGAGGCCAGTCTCTCCCACTGGGCCTCACCGTCCCCCACCTGGGGCCTACCTGCTGCTGTGAAGCCCTTGGCCAGGGCAAAAGCCAGCTGGCCAGCGCCGATGAAGCCCACGCTCATGCTGTCCGGAGACCCCTGGCCCAAAGCCCCCACAGATGGCACCGGCTCTGCGGGACGAGACCGGCAGGATCGAGAGCAAGTTAGGGGGGCAGTGCCAGCCTGGCCGCTCCTCCCGCAGCCGGGTGCCCACCTCCCCTGGTCCCAGCTGGTCTAACTTTCCACTTTGCTGTCCGGCCCGTTAACTGCTTCGGGGCCCCCAGTCAGAGCGGCGGTGCCTGGCCTGCTGCCTAGGGTCCCGCACCCACTGGAGGGGTGGAGGTTCCGCAGAAGAAATGACTGGGAAGGGGGAAAAGTACGGGGAGAGGGAGGGCCCGGCGCCTAGGGGTCCCCCGTCTGGGTTCCCACCCCGCCCAGAACTGGGCTACCGTCGCGCCCCACCCGGCGACCGCCGCCCACCATTCCCGGAGCCCGACCCCAACCCAGCTACCGTGCGCGGGTCGTACCCACCCCTCAGCGCTGCGGCCGCCACGCGGCACCCGCACCCAGGCCCCGCCCCCGTCGCGCCAGCGAATCCGGGCGCGGCCGCCAGGCGCTGGCCAATCAGAGCGCGCGGCGGCGCCAGAGCGGTTGCATCATCTGCGCGCCCCTCCCACGCCGACCGCCGGCCCTCGCCTCTCTCGCGCCCCGGGATCCCCCGGCCCCCGGATAGACACCCTCTCCGGCACGCGGTCCCCTGACCCGCGCTCCTCCTGGTCGCGCTTCCCGGGACCTACACGTGGGGTCCGAGGACGCGGGCGGAGGGGGCGGCCCGATTGGGGCCTGTGAGGGGCCCTCCACGCAGGGCTTTGTCTTGGGCCACCCGGACACGGACGCGTCCAGCTGGCGTCCCTGGGCGCGCGGCCGGCTCTCTCTGGGAATCAGTCCCTTCTACTGTCATCGAGTTTGGAGAAGCCCGGCTGTACAGCGTTTTCTTTCCTTTTTTTTTTTCCCTTGGGGGCAGAGTTGAAAATAATTTGCCAAGTGGAAGCATTTTAAATATATCACCATTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAATTAACCGGGCGTGGTGACAGGTGCCTGTAATTCCAGCTACTCGAGAAGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGGTGGAGGTTGCAGTGAGCCGGGATTGCGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAGACTCCATCTGAAAAAAAGAGAGAGAGAAAGAAAGGAAGAAAAGAAGAAAAGAAAAGAAAGAGGCATGACAGTGCGGCCACAGGTGTTCCTCTAACTGGGCACGCAGCGGTGCTCCACTAAGCAAACGAAGGAAGCCCACCCCATCATGCCCCCACTCCCACGCAGCCCGGAGCATCCTCCAATACCCAAACCTCTCGCCTGCCTGGGTTTTAGGGGGAGTGAAGCTCCAGTCACTTCCCCCTGAGGACATGCTCAGAGTTCATCTGATTCGGGCCTGCATCTGGGGCTCTGGATAGTCAGGGTCCCTGTCGGTGGCCAAGATTAAGGGCGAAGTCAGAAGGGATCACTGGCAGCCCATTCCCCTGCCAAGGGGTGAGAGGAGCTGCCTTATTTTTTCTGTGCTGTATCTTAGATGATGACAGGCTATTCTAGCACATCATTTCAGAAGGCCTGGGATGCTTCTGCCACAGCGGCAGGGCCACGCGTTCTGGCTATCTGTCTACCTGGTCCCCCCACCGTGAACACGTAATGACCACCACCAACACTGGGAGGCTGCTCTGTGGTGGCCATGGGAAGAGCTTGTCCAGATGGACAGCTCAAACCTGGGGCACGGAGGCTAGCATCGCCTAGGCGCTTTGAGAGCCAAGCTCCCCAGGCTGTTACAAAATCACTTTTCCCCAAGTGATAACAGCAAGTAACACTTTTN | benign | 286,470 |
Variant in FASN (fatty acid synthase), chromosome 17, position 82092678—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGCCCCACTAGGCCATCTCCACCCCCGCGCCCCATCGACCCTCCCAGGTCTCCTGATAGGAAAGAAGCCCCTATGGCCCCCACACAGCCCCACTGAGACCCCTCCTCCCCTCCCGTCCTGCCCCCAGCACAAGGCTCTGCCTAGCAAAGGGGCTGTCAGGGGCCCCGGACTCAACACTGCAGCTCCTGGGCTCCAGGGAAAGCCAGAGCCCTGGGGCTGGCGTTGCTCACACGCTGGCAGGCTGGGCCCTACCTGGATGGCAGTCAGGCTCACAAACGAATGGACGATGTCATCAAAGGTGCTCTCGTCTGTGCTCAGCAGCAGCTGTGACACCTTCAGGCCGAATGGCTTCACAGCCTCATCGGAGCGTAGGATGGAATCTCGGAAGCGGTCCAGGCGCATGAGGCTCAGCCCCATCCCGCGCCACTGTGTGCCCATCCCTGTCCCAGAGAGCACGTCACGAGGCTCAGCCCCATCCCGTGCCACTGTGTGCCCATCCCCGTCCCAGAGAGCACCTCAGGGGACCACCAGCTCCAGTTCGCCTGCCTTTCCCCAGGGAAGGGACCACCTTGGGGGCAGAGTGTGGGCTCACCAGAGCAGATGAACCAGAGCGGGCGCTCGCCAGCGGGCACCTGCTGCACCTCTGGGCCACCGCGCTCACCACCCAGCACAGCGTAGCCACGGAAGGGCATGGCGGTGGCGGGGACAGCCGCGATGTCGTTCAGCATGCTCAGGAAAGCCAGGTCCTGGCTGTGCCGGAGGCCCTGCTCCAGCAGCTTCTGCACGGCCTCAGGGGTGCGTCCGCTGGCCCGCAGCAGACGGGGCAGGGTGGCATGTGGGGCGGGTGCGGGGGGCGGCTGCGTGTTGGGCCTCAGGATGATGTGCACGTTGGAGCCCCCGAAGCCAAAGGAGTTGATGCCCACGTTGCCGCCACGGACGGGCAGGGGCTGGTCCACCACCTGCAGCCGCCCATCCAACAGCGCTGGGATCTCAGGGTTGGGGCTATGGAAGTGCAGGTTGGGGGCCCAGAGCCCGTGCTCCAGGGACAGCAGCACCTGCGGGGGTACGTGGTGGATGGGCAGCCGCCCCACTCCCTCTACCACTGCCTGAGCTGGGGGCAGGCACCTCCCCGAGACTCTCATGTGGGGCCAGGGTTCCAGGGCCCTCTCCGATGCACTTCCTGTCCCCAACCTAATTCTGCCATGGCACAGGGGTCCGAGGACTGAGCCGCCATGGCCCTGCCCTCAGCTTGGTCCAAGACCTCCCCTTCCGGCCTTGCTGCCTCCCAGCCTGATGTGGACCCACCAAAGCCTGGCTGTGGCCTGAACACTAAGGCCCCCTTGGCCCAGATGTTGCATCTCAGAGGCTGCAGAAGTTGGGGGGCAGAGGGCGTGAGTGATCATGGGTGTTGGGGCTCCTGTGCCTGGTCTCTCTAAAGGTCCCCAGGCCTCTGCTAGTGGGTCAGGAAGCTGTAGGGACGGGTGGGCGACACGGGAGACCCTGATGGTGCCGTGGACCCCCCCAGGCCTGCTCCTGCCTCGCTCTTCCCACCCAAGCGGCTCCTCCAGCTCGGCTCCGTGTCCGGCAGACGCTCTGCAGGGCATCAGGCCTCCAGGGAAGGCCCAGCGAGCCTGGCTACGAGCTCTCCCTGCTGTCAGCCTCAGTGCCTCTGCTCAGACCTGCAGCATAGCCCGGGGGACAGAGGCTCCTGGTGGGGAAGCCCCCGCCTCCACTTGGCAAAGAGAAAGCAGCAGTGCCCAGCCATGGCGCAACCCAGTCCCAGGGAGCAGGAGCCTGAGGGACCCCCAAGCCCAGCCCCACCTACCTTGGCCAGGGCTGCCAGCCCCGAGGCTGGCTCCGGGTGCCCCATGTTGGACTTGGTGGAGCCGATGAGCAGCGGCTCCTGGCGGGTGGCGCACAGGGCTCGGGTGATGCCATTCAGCTCCTGGGGGTCGCCCACCTGTGGGAAACATGGGGGGTGAGGGGCTCTGGCCAGGTCACCTCTCCAGGCATGGGCGTAGGTTAGGCTCATGGGGTGGTGAGTGGGGCGGGGGGGGGGGGCATCACCTTGGTGCCTGTGCCGTGGGCTTCGATGTATTCAAATGACTCAGGGGCCACTCCGGCCGACTGGTACAACGAGCGGATGAGCTGCTCCTGGATATCCCCTGAGGGGAAGGTCACGCCTGCGGAGGGCTCGGCTCAGTGCTGCAGCCCCAGCCCCGGCTCCCACCTGCCCCCCAGCACCCCGGAACCCCGGCAGAGCCCACCTTGCTCCTTGAAGCCATCTGTATTGGTGCCGGCGTTCAGGATGGTGGCGTACACCCGCCGGGCCAGGGACTTCTTGGTCAGCAGGACGGCCACCACACCCTCCGAGCGGCAGTACCCATTCCCTGGGTAGAGCAGCACCTCAGGCCCGGGGCTCAGCCCCACGCCGGCCCCCACCCCACCAGGAGGAGCTCTGGGGTGTGGGGTGGGTGCTTGGGTGGGGGATCCCCGGAGCTGGCAGGATCCTGCTCAGCGTGGGGACTGTGCGGGGGGCCGTCCTGTGCCACTGTCCCGCCTGCCCTGGCCGCGCAGCCGCACACTCACCCGCTGTGTCGAAGGCCTTGCAGGTGCCCTCGGGGCTGAGCATCCCCAGCCTCAAGAACTGCACGGAGGTGTTGGGCTTCAGCAGGACATTGATGCCCCCCACGATGGCGGCAGGGCACTGCCCGCTGTGGATGGCCTGGTAGGCGTTCTGCAGGGCCATCAGGCTGGAGGAGCAGGCTGTGTCCAGTGCGATGCTGGGCCCTGCAAGGAAGGGTGCTGCGGCTCAGGTGGGGCTGTGAGCACACGAGACCCCTGAGCACACCTCCTGCCACCAGGCTGGACACACACTGCACGGAGTGAGCCCACGCCACGTGGTTTCTGCTCAGCATGTGGGGACCTGAAGGCCACCCACCTCCGCAGGAGGCTGGGCAGGACCCACCTCTGAAGTCGAAGAAGAAGGAGAGCCGGTTGGCCATCATCGCTCGCTGGCAGCCCACCATGCTGTAGCCCACGAGTGTCTCGGGGTCTCGGCTCAGGGCCTCCGAGGTCTCAGAGCCGCTCACGCCCACCCAGACGCCAGTGTGTGTTCCTCGGAGTGAATCTGGGTTGATGCCTGCCACAAACAGTGGTCAAGGTGCCACGGCCGGGCCCCACAGCGCAGCCAGCCCACCCACCCACCCGGCTCTGGGGCGAAGGTCCCATCTTGGCCTCACTGGCTTGGGGTGAGGGGGGGTCCATCCCAGTGGGACCCTGGAAGGGGCCTAAGGAGGGTGAGGTGTCCTGCAGAGGGGCCAGAACAGAGCCTGTGGCCAGCAGCCAGCCCAGGTGAGGCCTGGAACAGGAACCAGGTCACAGAGGGAACGAGGCGGAGGGGGCAGGCGGGCCCAGGGGAGGGCACCAGGCACGGCCAGAGTGGCTCCAGGAAGGACAGAGGGCAGCATTGTCCCCAGGCGACGCCTTTGGCCCCTGGTGTCACCGGCAGCTCTGATGAGCCCGTCGGCCAGTGGCCTCTCCAGCGCCAAGGGCAGCCTGCACCAGAACAGGCCGTGATAAGGAACCGAGGAGACAAAGGCCAAGTGTCCAGGCTCGGGAAGGAGAGAGGGACACCGGTCACCCCCGGGGAGCATAACCTTAGTCTTGGGGTGGGGTCTGGCAGCAGGAAGGGCGCAGGAGAAGGGCTTCCACCTCTCGGCCAGCAGGGCCCCTCCTCGCCCCTGGTGGGCTGGCTCTGCCCTAGGGTGGGTGGGTGTGTGAACCGCTCACACCCAAGGGCAGCCCAGGGCTCAGCCTCCCCCTCAGGAGGTCCTTCTCCGCCCGGGGAGGGAGCACCTGGATCTTAAGAAATGGCATGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGATGGATGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCAAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCGGCCACTCAGGAGACTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGC | GGCCCCACTAGGCCATCTCCACCCCCGCGCCCCATCGACCCTCCCAGGTCTCCTGATAGGAAAGAAGCCCCTATGGCCCCCACACAGCCCCACTGAGACCCCTCCTCCCCTCCCGTCCTGCCCCCAGCACAAGGCTCTGCCTAGCAAAGGGGCTGTCAGGGGCCCCGGACTCAACACTGCAGCTCCTGGGCTCCAGGGAAAGCCAGAGCCCTGGGGCTGGCGTTGCTCACACGCTGGCAGGCTGGGCCCTACCTGGATGGCAGTCAGGCTCACAAACGAATGGACGATGTCATCAAAGGTGCTCTCGTCTGTGCTCAGCAGCAGCTGTGACACCTTCAGGCCGAATGGCTTCACAGCCTCATCGGAGCGTAGGATGGAATCTCGGAAGCGGTCCAGGCGCATGAGGCTCAGCCCCATCCCGCGCCACTGTGTGCCCATCCCTGTCCCAGAGAGCACGTCACGAGGCTCAGCCCCATCCCGTGCCACTGTGTGCCCATCCCCGTCCCAGAGAGCACCTCAGGGGACCACCAGCTCCAGTTCGCCTGCCTTTCCCCAGGGAAGGGACCACCTTGGGGGCAGAGTGTGGGCTCACCAGAGCAGATGAACCAGAGCGGGCGCTCGCCAGCGGGCACCTGCTGCACCTCTGGGCCACCGCGCTCACCACCCAGCACAGCGTAGCCACGGAAGGGCATGGCGGTGGCGGGGACAGCCGCGATGTCGTTCAGCATGCTCAGGAAAGCCAGGTCCTGGCTGTGCCGGAGGCCCTGCTCCAGCAGCTTCTGCACGGCCTCAGGGGTGCGTCCGCTGGCCCGCAGCAGACGGGGCAGGGTGGCATGTGGGGCGGGTGCGGGGGGCGGCTGCGTGTTGGGCCTCAGGATGATGTGCACGTTGGAGCCCCCGAAGCCAAAGGAGTTGATGCCCACGTTGCCGCCACGGACGGGCAGGGGCTGGTCCACCACCTGCAGCCGCCCATCCAACAGCGCTGGGATCTCAGGGTTGGGGCTATGGAAGTGCAGGTTGGGGGCCCAGAGCCCGTGCTCCAGGGACAGCAGCACCTGCGGGGGTACGTGGTGGATGGGCAGCCGCCCCACTCCCTCTACCACTGCCTGAGCTGGGGGCAGGCACCTCCCCGAGACTCTCATGTGGGGCCAGGGTTCCAGGGCCCTCTCCGATGCACTTCCTGTCCCCAACCTAATTCTGCCATGGCACAGGGGTCCGAGGACTGAGCCGCCATGGCCCTGCCCTCAGCTTGGTCCAAGACCTCCCCTTCCGGCCTTGCTGCCTCCCAGCCTGATGTGGACCCACCAAAGCCTGGCTGTGGCCTGAACACTAAGGCCCCCTTGGCCCAGATGTTGCATCTCAGAGGCTGCAGAAGTTGGGGGGCAGAGGGCGTGAGTGATCATGGGTGTTGGGGCTCCTGTGCCTGGTCTCTCTAAAGGTCCCCAGGCCTCTGCTAGTGGGTCAGGAAGCTGTAGGGACGGGTGGGCGACACGGGAGACCCTGATGGTGCCGTGGACCCCCCCAGGCCTGCTCCTGCCTCGCTCTTCCCACCCAAGCGGCTCCTCCAGCTCGGCTCCGTGTCCGGCAGACGCTCTGCAGGGCATCAGGCCTCCAGGGAAGGCCCAGCGAGCCTGGCTACGAGCTCTCCCTGCTGTCAGCCTCAGTGCCTCTGCTCAGACCTGCAGCATAGCCCGGGGGACAGAGGCTCCTGGTGGGGAAGCCCCCGCCTCCACTTGGCAAAGAGAAAGCAGCAGTGCCCAGCCATGGCGCAACCCAGTCCCAGGGAGCAGGAGCCTGAGGGACCCCCAAGCCCAGCCCCACCTACCTTGGCCAGGGCTGCCAGCCCCGAGGCTGGCTCCGGGTGCCCCATGTTGGACTTGGTGGAGCCGATGAGCAGCGGCTCCTGGCGGGTGGCGCACAGGGCTCGGGTGATGCCATTCAGCTCCTGGGGGTCGCCCACCTGTGGGAAACATGGGGGGTGAGGGGCTCTGGCCAGGTCACCTCTCCAGGCATGGGCGTAGGTTAGGCTCATGGGGTGGTGAGTGGGGCGGGGGGGGGGCATCACCTTGGTGCCTGTGCCGTGGGCTTCGATGTATTCAAATGACTCAGGGGCCACTCCGGCCGACTGGTACAACGAGCGGATGAGCTGCTCCTGGATATCCCCTGAGGGGAAGGTCACGCCTGCGGAGGGCTCGGCTCAGTGCTGCAGCCCCAGCCCCGGCTCCCACCTGCCCCCCAGCACCCCGGAACCCCGGCAGAGCCCACCTTGCTCCTTGAAGCCATCTGTATTGGTGCCGGCGTTCAGGATGGTGGCGTACACCCGCCGGGCCAGGGACTTCTTGGTCAGCAGGACGGCCACCACACCCTCCGAGCGGCAGTACCCATTCCCTGGGTAGAGCAGCACCTCAGGCCCGGGGCTCAGCCCCACGCCGGCCCCCACCCCACCAGGAGGAGCTCTGGGGTGTGGGGTGGGTGCTTGGGTGGGGGATCCCCGGAGCTGGCAGGATCCTGCTCAGCGTGGGGACTGTGCGGGGGGCCGTCCTGTGCCACTGTCCCGCCTGCCCTGGCCGCGCAGCCGCACACTCACCCGCTGTGTCGAAGGCCTTGCAGGTGCCCTCGGGGCTGAGCATCCCCAGCCTCAAGAACTGCACGGAGGTGTTGGGCTTCAGCAGGACATTGATGCCCCCCACGATGGCGGCAGGGCACTGCCCGCTGTGGATGGCCTGGTAGGCGTTCTGCAGGGCCATCAGGCTGGAGGAGCAGGCTGTGTCCAGTGCGATGCTGGGCCCTGCAAGGAAGGGTGCTGCGGCTCAGGTGGGGCTGTGAGCACACGAGACCCCTGAGCACACCTCCTGCCACCAGGCTGGACACACACTGCACGGAGTGAGCCCACGCCACGTGGTTTCTGCTCAGCATGTGGGGACCTGAAGGCCACCCACCTCCGCAGGAGGCTGGGCAGGACCCACCTCTGAAGTCGAAGAAGAAGGAGAGCCGGTTGGCCATCATCGCTCGCTGGCAGCCCACCATGCTGTAGCCCACGAGTGTCTCGGGGTCTCGGCTCAGGGCCTCCGAGGTCTCAGAGCCGCTCACGCCCACCCAGACGCCAGTGTGTGTTCCTCGGAGTGAATCTGGGTTGATGCCTGCCACAAACAGTGGTCAAGGTGCCACGGCCGGGCCCCACAGCGCAGCCAGCCCACCCACCCACCCGGCTCTGGGGCGAAGGTCCCATCTTGGCCTCACTGGCTTGGGGTGAGGGGGGGTCCATCCCAGTGGGACCCTGGAAGGGGCCTAAGGAGGGTGAGGTGTCCTGCAGAGGGGCCAGAACAGAGCCTGTGGCCAGCAGCCAGCCCAGGTGAGGCCTGGAACAGGAACCAGGTCACAGAGGGAACGAGGCGGAGGGGGCAGGCGGGCCCAGGGGAGGGCACCAGGCACGGCCAGAGTGGCTCCAGGAAGGACAGAGGGCAGCATTGTCCCCAGGCGACGCCTTTGGCCCCTGGTGTCACCGGCAGCTCTGATGAGCCCGTCGGCCAGTGGCCTCTCCAGCGCCAAGGGCAGCCTGCACCAGAACAGGCCGTGATAAGGAACCGAGGAGACAAAGGCCAAGTGTCCAGGCTCGGGAAGGAGAGAGGGACACCGGTCACCCCCGGGGAGCATAACCTTAGTCTTGGGGTGGGGTCTGGCAGCAGGAAGGGCGCAGGAGAAGGGCTTCCACCTCTCGGCCAGCAGGGCCCCTCCTCGCCCCTGGTGGGCTGGCTCTGCCCTAGGGTGGGTGGGTGTGTGAACCGCTCACACCCAAGGGCAGCCCAGGGCTCAGCCTCCCCCTCAGGAGGTCCTTCTCCGCCCGGGGAGGGAGCACCTGGATCTTAAGAAATGGCATGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGCTGAGATGGATGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCAAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCGGCCACTCAGGAGACTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCAGAGCNN | benign | 286,562 |
Variant on chromosome 17, at position 82586178, affecting FOXK2: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CGCTGCACAGCCCAAACTCGCTGTCATCCAGGAAGCCCGGTTTGCCCAGAGCGCCCCAGGTGAGACAGCGGGAGAGGAAGCGAGGGCCCCAACAGCGTGAGCCAGACGCGGACGCCTGGGCTCCACAGAGAAGAAACAGCCGGACTGGAGGCCTGCCTGTCCCTCTGTACCTTATACTAGTACCTGATTTTATAGGCCTTGGAAAACTAATAGCACTGGGAGTGTTTTTTAAAAATCAATGAAGGTTCTTTAAACGACACTGAGTAGATGCCTGAAATAACTTAGAATTAACCTGTTTCTTAGTTTGTCATTCAAAAATCCATGAAACAGCCCCCGCACCCCCACCCCCCGCAAAAAAATCAAAACAAAACAAAAACCCATGAAGTAGACAAACTAGACACTGGAAGCAAAAACATGTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCAGGCTGGAATCTTGGCTCGTTGCAACCTCTGCCTCCCAGGTTCAAAGAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGCGTACAGGCGTGAGCCACCACGCCCAGCCTAACATGTCCATTTTAAGGAATAGGTAAAACAGTTTGCAGTTTACTTAGTCATAATGTGGAATAAAAATGTGTGCCCTGGGGAATTAAACAAACAAACATAGTGTGGAAATGTGTCCAAACTGTCTGTTACAGTTGACAGAAAGTGAATTGGGTCATTTGGGATTCCTGGCCCTGCCGGGCCAGAGAACAGCCCTCCCCTGCCCACTGGCGGTGGCCCCTGACAGCCATGTCTCCCTCTCTTTGCTCTAAGCCCCCAAACCATGGCAGAGGCCCCTGACAGCCGTGTCTCTCTCTCTGCTCTAAGCCCCCAAACCACAAAGGGCAGAGGCTGGGTGCCAGAGGCTCTGTGACAGCCCCACTCTGTTTTTGAACTTTCTGCTTCCCTTCCACTCGTTACAGGAGGAAGATGTTGATCCTAGGTGAGTGTGGCCCTCGTCTTTCTGGCCTACAGGGGCAGTTTCTTCTTTTTTTTTTTTTGTTCGTTTGTCTTGAGACAAGGTCTTGCTCTGTCACTCATGCTGGAGTACAGTGACGTGTTCTTGGCTCACTGCAGTCTCCACCTTCCAGGCTCAAGCAATCCGCCCTCCTCAGTCTCCTAAATAGCTGGGGCTGTAGGCGCACAGTAACATGCCCGGTTAATATTTGTCGTAGAGACAGGGTCTCCCTATGCCCAGGCTGATCTCAAACTCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTTTCCTCTTTTATTGAGTATTGACATTTTCTTTTTTATAAAGAACTGTGGGAAGAGGGGTTACCAGATATCTAAATAGAGCCAAAATTGCATTTTTAGCAGTTAGAGATAGGAATTAAATACCCCTTTTAAAATACTACACCTCCCTCATTATTAGTAACTTTACTATTGTGAGGTGAAATAGGGCCATATCCTATATTTTAAATTAAAGTTTGTATGTTGCTTGTCAGTGCTGAGTGTGAGAACCTTTGTTTGTAGAAGTCAGTATCTGTAAGTGTCAGTCCTGCTGTGTCTTTCACCAGGGTCACCTCTGTCCAGTCAGCCAGTCTTAATCACCGTCCAGCGGCAGCTACCACAGGCCATCAAGCCTGTCACCTACACTGTGGCCACCCCAGTGACCACCTCGACCTCCCAGCCACCCGTCGTGCAGACGGTTCACGTCGTCCACCAGATCCCAGCGGTGTCGGTCACCAGTGTGGCCGGACTGGCCCCAGCGAACACGTACACTGTCTCTGGACAAGCTGTGGTCACCCCGGCAGCCGTGCTGGCCCCTCCTAAGGCAGAGGCCCAGGAGAATGGAGACCACAGGGAAGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGCTGCCCCATCAGCCTCACACTCTGGGAAGTCCATAAGATTTGCTCATCCTTGGCCAGGTACAGTGGCTCACACCTGTAATCCCAGCACTATGGGGGGCTGAGACGGTCGGATCACCTGAGGTTAGGAGTTGGAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGGACTCCAGCTTGGGTAACGAGCGAAACTCCATCTCAAAAAACAAAAAAAAGATTTGCTCATCTTTTTCTAATTTGCTGTTTGTTTTAGAGACATTTTCTAGCAGGTGTGATAGCTATCTGGTTATTATGTTTTAAACTGGCAAGATTTTTATTTGCTTTCCAGTAATATTAATGTCGTTTCTTTTCCTTTAATTTCAGTGAAAGTAGAGCCTATTCCCGCCATTGGCCACGCCACGCTCGGCACTGCCAGCCGGATCATTCAGACGGCACAGACCACCCCGGTCCAGACGGTGACCATAGTACAACAGGCACCTCTAGGTCAACACCAGCTACCAATAAAAACTGTAACACAAAACGGCACTCACGTGGCATCAGTCCCCACTGCGGTCCACGGCCAGGTGAACAATGGTAAGACATGCTGGTCGGTGGCTCCCCGTGGCTGTGGGTACTGGGAGCAGAGCCCCTTCTCACTCGTGGTTTCGGTTCTGACTGTAACAATTTTAGCTTTTGTCTGAGGCAATGTTTGCATTTCGAAGCTGCAGGAAATCTAGTCATGCTGGGGAAGTGGTCGTGGAGTCGGCCGTCATGGGATTCCCGTGGGAGGACCTGCCTGAAAAGAGATGAGAGTTTCTAATACATTGAGAGGGAAAAATACTCTCGCCTCTTGTAGATTTCCTGGGTGTGGCCTGGAAGCGGCCTGAAACGGCGGGAGCCGCCGCGTGTCTTTTCCCTTGGCCTCGCGCGCCCTGTGGCCTGTGGCGGTGCTATGCTGCTGAGGGTGGGAGAGAGGCTGCTTTTCTGTGCGCTTTGCTCTCAGAGTCCGTCCGAGGCCGGTGCACAGAAAACCGCACGGATGTTCTGACATTGACAAGTGGAGACACCAGAACCTCCGCGCCGACACCGGGTTATCTACCTTCGCCCTGCCCTGTGGAGTGTGGAAAGGGTGGGAGTCCCTGCTGGCTGCCGAGTCAACTCTGGCATTGGGGCCTGGCTCAGGTGTGGGCTCCCGCTGCTCTGGGTTGGGTACATGTGGGCTGTTGCCGGCTGTGTGGCTGATCCTGGCGCTTGCGGGATCTCAAGCAGGCAAATCCGAAGCTACCGACTAAAACTGTCTCTGTGCCCACGACACGCTTTCTTTGAAAGAGGGTACAGGTCAGAAGGCTTTATCACGACGTTTGAATCCTTACCGAACGCTACGAACAGAGACCTTGAAACCTGCAGGTACCTCCTACTCTGACTCAGCACCACCCTGCCTCTCCCCAAATTTATGGAAGAACAAGGTCTGGAACCTTTTCTAGGGAAGACTGACTACCTGGGGTTTTTTTTGTTTTTAAGTAATAGCAACACTTGCTGCCTGTAGA | CGCTGCACAGCCCAAACTCGCTGTCATCCAGGAAGCCCGGTTTGCCCAGAGCGCCCCAGGTGAGACAGCGGGAGAGGAAGCGAGGGCCCCAACAGCGTGAGCCAGACGCGGACGCCTGGGCTCCACAGAGAAGAAACAGCCGGACTGGAGGCCTGCCTGTCCCTCTGTACCTTATACTAGTACCTGATTTTATAGGCCTTGGAAAACTAATAGCACTGGGAGTGTTTTTTAAAAATCAATGAAGGTTCTTTAAACGACACTGAGTAGATGCCTGAAATAACTTAGAATTAACCTGTTTCTTAGTTTGTCATTCAAAAATCCATGAAACAGCCCCCGCACCCCCACCCCCCGCAAAAAAATCAAAACAAAACAAAAACCCATGAAGTAGACAAACTAGACACTGGAAGCAAAAACATGTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCAGGCTGGAATCTTGGCTCGTTGCAACCTCTGCCTCCCAGGTTCAAAGAATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTCGTGACCTCATGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGCGTACAGGCGTGAGCCACCACGCCCAGCCTAACATGTCCATTTTAAGGAATAGGTAAAACAGTTTGCAGTTTACTTAGTCATAATGTGGAATAAAAATGTGTGCCCTGGGGAATTAAACAAACAAACATAGTGTGGAAATGTGTCCAAACTGTCTGTTACAGTTGACAGAAAGTGAATTGGGTCATTTGGGATTCCTGGCCCTGCCGGGCCAGAGAACAGCCCTCCCCTGCCCACTGGCGGTGGCCCCTGACAGCCATGTCTCCCTCTCTTTGCTCTAAGCCCCCAAACCATGGCAGAGGCCCCTGACAGCCGTGTCTCTCTCTCTGCTCTAAGCCCCCAAACCACAAAGGGCAGAGGCTGGGTGCCAGAGGCTCTGTGACAGCCCCACTCTGTTTTTGAACTTTCTGCTTCCCTTCCACTCGTTACAGGAGGAAGATGTTGATCCTAGGTGAGTGTGGCCCTCGTCTTTCTGGCCTACAGGGGCAGTTTCTTCTTTTTTTTTTTTTGTTCGTTTGTCTTGAGACAAGGTCTTGCTCTGTCACTCATGCTGGAGTACAGTGACGTGTTCTTGGCTCACTGCAGTCTCCACCTTCCAGGCTCAAGCAATCCGCCCTCCTCAGTCTCCTAAATAGCTGGGGCTGTAGGCGCACAGTAACATGCCCGGTTAATATTTGTCGTAGAGACAGGGTCTCCCTATGCCCAGGCTGATCTCAAACTCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCCAGTTTCCTCTTTTATTGAGTATTGACATTTTCTTTTTTATAAAGAACTGTGGGAAGAGGGGTTACCAGATATCTAAATAGAGCCAAAATTGCATTTTTAGCAGTTAGAGATAGGAATTAAATACCCCTTTTAAAATACTACACCTCCCTCATTATTAGTAACTTTACTATTGTGAGGTGAAATAGGGCCATATCCTATATTTTAAATTAAAGTTTGTATGTTGCTTGTCAGTGCTGAGTGTGAGAACCTTTGTTTGTAGAAGTCAGTATCTGTAAGTGTCAGTCCTGCTGTGTCTTTCACCAGGGTCACCTCTGTCCAGTCAGCCAGTCTTAATCACCGTCCAGCGGCAGCTACCACAGGCCATCAAGCCTGTCACCTACACTGTGGCCACCCCAGTGACCACCTCGACCTCCCAGCCACCCGTCGTGCAGACGGTTCACGTCGTCCACCAGATCCCAGCGGTGTCGGTCACCAGTGTGGCCGGACTGGCCCCAGCGAACACGTACACTGTCTCTGGACAAGCTGTGGTCACCCCGGCAGCCGTGCTGGCCCCTCCTAAGGCAGAGGCCCAGGAGAATGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGCTGCCCCATCAGCCTCACACTCTGGGAAGTCCATAAGATTTGCTCATCCTTGGCCAGGTACAGTGGCTCACACCTGTAATCCCAGCACTATGGGGGGCTGAGACGGTCGGATCACCTGAGGTTAGGAGTTGGAGACCAGCCTGACCAACACGGAGAAACCCTGTCTCTACTAAAAATACAAAATCAGCTGGGCATGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCACTTGAACCCGGAAGGTGGAGGTTGCAGTGAGCTGAGATTGCGCCATTGGACTCCAGCTTGGGTAACGAGCGAAACTCCATCTCAAAAAACAAAAAAAAGATTTGCTCATCTTTTTCTAATTTGCTGTTTGTTTTAGAGACATTTTCTAGCAGGTGTGATAGCTATCTGGTTATTATGTTTTAAACTGGCAAGATTTTTATTTGCTTTCCAGTAATATTAATGTCGTTTCTTTTCCTTTAATTTCAGTGAAAGTAGAGCCTATTCCCGCCATTGGCCACGCCACGCTCGGCACTGCCAGCCGGATCATTCAGACGGCACAGACCACCCCGGTCCAGACGGTGACCATAGTACAACAGGCACCTCTAGGTCAACACCAGCTACCAATAAAAACTGTAACACAAAACGGCACTCACGTGGCATCAGTCCCCACTGCGGTCCACGGCCAGGTGAACAATGGTAAGACATGCTGGTCGGTGGCTCCCCGTGGCTGTGGGTACTGGGAGCAGAGCCCCTTCTCACTCGTGGTTTCGGTTCTGACTGTAACAATTTTAGCTTTTGTCTGAGGCAATGTTTGCATTTCGAAGCTGCAGGAAATCTAGTCATGCTGGGGAAGTGGTCGTGGAGTCGGCCGTCATGGGATTCCCGTGGGAGGACCTGCCTGAAAAGAGATGAGAGTTTCTAATACATTGAGAGGGAAAAATACTCTCGCCTCTTGTAGATTTCCTGGGTGTGGCCTGGAAGCGGCCTGAAACGGCGGGAGCCGCCGCGTGTCTTTTCCCTTGGCCTCGCGCGCCCTGTGGCCTGTGGCGGTGCTATGCTGCTGAGGGTGGGAGAGAGGCTGCTTTTCTGTGCGCTTTGCTCTCAGAGTCCGTCCGAGGCCGGTGCACAGAAAACCGCACGGATGTTCTGACATTGACAAGTGGAGACACCAGAACCTCCGCGCCGACACCGGGTTATCTACCTTCGCCCTGCCCTGTGGAGTGTGGAAAGGGTGGGAGTCCCTGCTGGCTGCCGAGTCAACTCTGGCATTGGGGCCTGGCTCAGGTGTGGGCTCCCGCTGCTCTGGGTTGGGTACATGTGGGCTGTTGCCGGCTGTGTGGCTGATCCTGGCGCTTGCGGGATCTCAAGCAGGCAAATCCGAAGCTACCGACTAAAACTGTCTCTGTGCCCACGACACGCTTTCTTTGAAAGAGGGTACAGGTCAGAAGGCTTTATCACGACGTTTGAATCCTTACCGAACGCTACGAACAGAGACCTTGAAACCTGCAGGTACCTCCTACTCTGACTCAGCACCACCCTGCCTCTCCCCAAATTTATGGAAGAACAAGGTCTGGAACCTTTTCTAGGGAAGACTGACTACCTGGGGTTTTTTTTGTTTTTAAGTAATAGCAACACTTGCTGCCTGTAGANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 286,605 |
Gene mutation in TBCD (tubulin folding cofactor D) at chromosome 17, position 82797739—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | GGATCGATTCTGTGGCCTCGCAGGGTGGGGTGCAGGGGGCCGTTTGTTACTGCCCTTTGATGCCTGGGCCTCTGCCGAGAAGACCACGTGGCAGGTGCCTTGAAGGGCTGGGTGCGGCAGGGGCCCTTGACTGAAGCTGGCTCTTCCTGCATGGCAGCCGGCTTCCCGGAGGGAGTGTCTCAAGGGGAGGTGTCTGGAGAGGCCCTGAAAGAGGCCGCCAGGCTTCTGACCTGGGATTGGGGGTCACTGGCATCACTCCTGCCTGCCTCTGTTGGTTGTGGCAGTTGGAAGCCTACCAAGGTGGTGGGTGAGGGACCCTTGATTGTCCGTCTGGCAAACTCTGTTCCCCACTGAGCTGGCCAGCCGGCTGCAGTGACAGCTTCTCTGTGAAGTGTCTTGTCTTCTTATCCCCCAGGCGCGGTCCGGCTTCTCGTTGCACACTGGTGGGCTTCAGGCCGTCAGCCCACCTCCCAGGGAATTTGAGTGTGTGCTTGGCCCTGCGACTGCCCCCGAACCCCGCGTCCCGTTGCGGGGAGCTCGCCTGTGCCCCACGGTTTCTGCTCAGCAAGTGTTGGCTCTGTAAACCGATGACTTAGGGTTAAAACACATATTAAATTAGATACATCTGGACTGGTGTGAAATAATTTAACTTTCGATTTTATATTTCACACAAACTAAAGATGGGGAAGAGTTCTTAAAGTTAAATGAGAACTTGTTTTGGGCAAACAAGGATCATCTCCATTCACTTGGTAGGGAACGTGTTACTATCCATTTCGCTAAAGAGAAAGGGGCTAAGTCTCTGATCACCTTGGTGAATGTGTTATTCTGAGTGGCTCAGGGAGGTGGGTGCTGCCACTGCCCCATTTTACAGACAGAGGAACAGGAGCGCAGAGACCCTGCTCTGCTCCACAGGCGTGACTGGTGGTCTGTCTGGCTGTCTCCTTCCTGTTTTGATCGTAGGTGTGGGATCTGCACCACAGGTGTGACTGGTGGTCTGTGTGCCTTTGCTGCTTCTCCACTCAGCGCTTAGGAGAGCCCCCCAGCGGGCTCCATGGAGAGAGTCTAAGTTCCCTCTCCTTTTAAGAAGATGTTTCTATTCTACACTTAAGTAAGAGATCAGGCAGTTTACAGGGTTCATAATGCAAATAAAAGACACCAGTATTTAGTGAAAGCCTCTTCACCTTGTCTGAGCATCTCCTGATGGGCGGCACCTGCTTCTTCATTTTTCCGTGTGGTGGGCGACAGCAGGACAGGGGTGGCGTGGTGTGCGGTGCAGATAGTCTGAGACAGATGCAGTTCTCACCTTGACTGTGAAATTCTGTTTTCTGAAGGAAAGGAAATTCATTCGCGTTTTCTTAGAAGGGCTCAGTTCTAGGATTCTTCGATTATGAGGCTTGGATATTTATGTGAATCATCGCATTTGTCCTCCAGACTTTAAAGCAGAAGGTAAAACCTCAGGTTGAGAATTCAGGAGGGCTAGAACCAGTGTTTGAGAGAAAATCTGATATTCCTGTTTGGTCTGATGGACTCCAGGTGATGACGTCCGTGTGTGCGCATCGTGGGGACCGGGCTGCCAGGTGTGTGTGTGAGACACGGGCTGAGCTGGTCACCCTTCTCATTTGTTGGTGAAGCATGAATGCAGATGGAGGCCTTTGTGTGAGGTGGTTTGGCCTGTAACTTTTATCCTTTGTAACTTTATTTATACGCAGATAATTTTTAAAAACCTACTGAGATATCTTCTTTTTCCAGGCTAGTAGTGCCCTGAACTTAAACCTGGGCACGTTTTGTGATGCCATTGATGAGGGAGGGGTGGAGAGGCTGCAGTCTCCATGAGGGGACTGGACTTATCATTGCATCCCTATTTTCAGATGAATTTTTGGGAGATGATTTCACTAGTCTCTTATAATTACTTTATCATGTACAGAAACTGTTTTCTTTATTATTAGGTGGTGAGTGTTTAGAATAAAAATTCTGAAAGATGTGATGAATTGTTTTCACAATTTGTGTGTATGTTTTAAACTTCTATTTGTATTTGTAACATTAAAAATCTTTTTTTTTTTTTTTAGGCACAAATATTTAAACATGGAAAACGTGAAGACTGTTTGCCCTATGGTAAGGTTTATTTTTAAGAGACGATATCTTTGTGATGTGAGTTTGCTCATATACAATCAAGTGTCTTTCCTTAACATTTTATTCATAGATATAGGAACTGTACATTGGTATGTTTGGACACTATCGTTCTTTTTTTTGTTGTGGGTTTTAGTAACTGAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCCCTCTGTTGCCCAGGCTGGATTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCGCGTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTTTTTTTTTGAGATGGATTTTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACTATCTCAGCTCACTGCAAACTCCGCCTCCTGGATTCACGCCATTCTCCTGCATCAACCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACAATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGAGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTGCTGACCTAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAATAACTGGACTTTTTGTCACTTTCCTAGTCCTTTGATAAAGAGGGATTGCTGCCAGGGGTCTCGTGAGGGAGGTCTGGGCAAAGCCCGTGTCATGATCTGAGGTTGGACCTGGCTTCTTGGGGCCCAGGAGCAGCCATGTTCCTCTGATAGCCACAGCCACCACCTCTTTTGCCTTCTTCCTAATTCTCTTAATTTATTCTTTTTGAGACTGCATCTTACTGTGTCGCCCAGGCTGGAATACATGACACAGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCCCCTGAGTGGCTGGGACTACAGGCGAGCTCTACCACGCCCGGCTAATTTTTTTAGCAGTGGGGTCTTGCTGTGCTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTGCCCTGCCTTGGCCTCCCAAAGTGCTGGGCTTAAAGGTATGAGCCACCACGCCTGGCTCAATTCTCTTAATTTTAGATTGAGCCTCAATTTCTGAAAATAAGGGCAGTGTTTTTCTCCACGCAGAGGTTTACCATCTGGAAAAAGAGAAACTTCTTAGAGCCTTTGTGTGTTTTAGAAGCTATCCGGACTGGGCGTTGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATCCCTTGAGCCAGGGAGTTGGAGGTTGCAGTGAGCTGAGATCGCGCCACAGCACTCTAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAACTATCCGAATATCAAATTTGAATAACTTTCTTTTTTTGAAAGTTTTTCATTATGGAAAATTTGAAACATGTATAAAGAAGAGAGAATGGCGTGCACGCCCCGTGTCTCTCTCAGGAGTGTGCGAGTTTTCGTGTGCAGCCTGTTTCATCCCTGCACCGCACAGGAGGGACACACAGTGCCATCTCACCTGTGTGTACTTCCATACATGTCTCTGGAAGGTGGGGCTCTTTATGTCCTCACCACACCCGAGAACGCGAGCAGCCGTTGCCAGGCCCTGTCGGCGGGAGGAGCGTCCTTGGTGACGTGAACACAGACCTCC | GGATCGATTCTGTGGCCTCGCAGGGTGGGGTGCAGGGGGCCGTTTGTTACTGCCCTTTGATGCCTGGGCCTCTGCCGAGAAGACCACGTGGCAGGTGCCTTGAAGGGCTGGGTGCGGCAGGGGCCCTTGACTGAAGCTGGCTCTTCCTGCATGGCAGCCGGCTTCCCGGAGGGAGTGTCTCAAGGGGAGGTGTCTGGAGAGGCCCTGAAAGAGGCCGCCAGGCTTCTGACCTGGGATTGGGGGTCACTGGCATCACTCCTGCCTGCCTCTGTTGGTTGTGGCAGTTGGAAGCCTACCAAGGTGGTGGGTGAGGGACCCTTGATTGTCCGTCTGGCAAACTCTGTTCCCCACTGAGCTGGCCAGCCGGCTGCAGTGACAGCTTCTCTGTGAAGTGTCTTGTCTTCTTATCCCCCAGGCGCGGTCCGGCTTCTCGTTGCACACTGGTGGGCTTCAGGCCGTCAGCCCACCTCCCAGGGAATTTGAGTGTGTGCTTGGCCCTGCGACTGCCCCCGAACCCCGCGTCCCGTTGCGGGGAGCTCGCCTGTGCCCCACGGTTTCTGCTCAGCAAGTGTTGGCTCTGTAAACCGATGACTTAGGGTTAAAACACATATTAAATTAGATACATCTGGACTGGTGTGAAATAATTTAACTTTCGATTTTATATTTCACACAAACTAAAGATGGGGAAGAGTTCTTAAAGTTAAATGAGAACTTGTTTTGGGCAAACAAGGATCATCTCCATTCACTTGGTAGGGAACGTGTTACTATCCATTTCGCTAAAGAGAAAGGGGCTAAGTCTCTGATCACCTTGGTGAATGTGTTATTCTGAGTGGCTCAGGGAGGTGGGTGCTGCCACTGCCCCATTTTACAGACAGAGGAACAGGAGCGCAGAGACCCTGCTCTGCTCCACAGGCGTGACTGGTGGTCTGTCTGGCTGTCTCCTTCCTGTTTTGATCGTAGGTGTGGGATCTGCACCACAGGTGTGACTGGTGGTCTGTGTGCCTTTGCTGCTTCTCCACTCAGCGCTTAGGAGAGCCCCCCAGCGGGCTCCATGGAGAGAGTCTAAGTTCCCTCTCCTTTTAAGAAGATGTTTCTATTCTACACTTAAGTAAGAGATCAGGCAGTTTACAGGGTTCATAATGCAAATAAAAGACACCAGTATTTAGTGAAAGCCTCTTCACCTTGTCTGAGCATCTCCTGATGGGCGGCACCTGCTTCTTCATTTTTCCGTGTGGTGGGCGACAGCAGGACAGGGGTGGCGTGGTGTGCGGTGCAGATAGTCTGAGACAGATGCAGTTCTCACCTTGACTGTGAAATTCTGTTTTCTGAAGGAAAGGAAATTCATTCGCGTTTTCTTAGAAGGGCTCAGTTCTAGGATTCTTCGATTATGAGGCTTGGATATTTATGTGAATCATCGCATTTGTCCTCCAGACTTTAAAGCAGAAGGTAAAACCTCAGGTTGAGAATTCAGGAGGGCTAGAACCAGTGTTTGAGAGAAAATCTGATATTCCTGTTTGGTCTGATGGACTCCAGGTGATGACGTCCGTGTGTGCGCATCGTGGGGACCGGGCTGCCAGGTGTGTGTGTGAGACACGGGCTGAGCTGGTCACCCTTCTCATTTGTTGGTGAAGCATGAATGCAGATGGAGGCCTTTGTGTGAGGTGGTTTGGCCTGTAACTTTTATCCTTTGTAACTTTATTTATACGCAGATAATTTTTAAAAACCTACTGAGATATCTTCTTTTTCCAGGCTAGTAGTGCCCTGAACTTAAACCTGGGCACGTTTTGTGATGCCATTGATGAGGGAGGGGTGGAGAGGCTGCAGTCTCCATGAGGGGACTGGACTTATCATTGCATCCCTATTTTCAGATGAATTTTTGGGAGATGATTTCACTAGTCTCTTATAATTACTTTATCATGTACAGAAACTGTTTTCTTTATTATTAGGTGGTGAGTGTTTAGAATAAAAATTCTGAAAGATGTGATGAATTGTTTTCACAATTTGTGTGTATGTTTTAAACTTCTATTTGTATTTGTAACATTAAAAATCTTTTTTTTTTTTTTTTAGGCACAAATATTTAAACATGGAAAACGTGAAGACTGTTTGCCCTATGGTAAGGTTTATTTTTAAGAGACGATATCTTTGTGATGTGAGTTTGCTCATATACAATCAAGTGTCTTTCCTTAACATTTTATTCATAGATATAGGAACTGTACATTGGTATGTTTGGACACTATCGTTCTTTTTTTTGTTGTGGGTTTTAGTAACTGAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTGAGTCTCCCTCTGTTGCCCAGGCTGGATTGCAGTGGCACAATCTTGGCTCACTGCAGCCTCCGCGTCCTGGGTTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACCATGCCCAGCTAATTTTTGTATTTTTTTTTTTTTGAGATGGATTTTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACTATCTCAGCTCACTGCAAACTCCGCCTCCTGGATTCACGCCATTCTCCTGCATCAACCTCCCGAGTAGCTGGGACTACAGGTGCCTGCCACAATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGAGATCCACCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTAGTCTTGAACTGCTGACCTAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAATAACTGGACTTTTTGTCACTTTCCTAGTCCTTTGATAAAGAGGGATTGCTGCCAGGGGTCTCGTGAGGGAGGTCTGGGCAAAGCCCGTGTCATGATCTGAGGTTGGACCTGGCTTCTTGGGGCCCAGGAGCAGCCATGTTCCTCTGATAGCCACAGCCACCACCTCTTTTGCCTTCTTCCTAATTCTCTTAATTTATTCTTTTTGAGACTGCATCTTACTGTGTCGCCCAGGCTGGAATACATGACACAGCTCACTGCAGCTTCGACCTCCTGGGCTCAAGCCATCCTCCCACCTCAGCCCCCTGAGTGGCTGGGACTACAGGCGAGCTCTACCACGCCCGGCTAATTTTTTTAGCAGTGGGGTCTTGCTGTGCTGTCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCTGCCCTGCCTTGGCCTCCCAAAGTGCTGGGCTTAAAGGTATGAGCCACCACGCCTGGCTCAATTCTCTTAATTTTAGATTGAGCCTCAATTTCTGAAAATAAGGGCAGTGTTTTTCTCCACGCAGAGGTTTACCATCTGGAAAAAGAGAAACTTCTTAGAGCCTTTGTGTGTTTTAGAAGCTATCCGGACTGGGCGTTGTGGCTCACGCCTGTAATCCCAGCGCTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCGGAGGCAGGAGAATCCCTTGAGCCAGGGAGTTGGAGGTTGCAGTGAGCTGAGATCGCGCCACAGCACTCTAGCCTGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAACTATCCGAATATCAAATTTGAATAACTTTCTTTTTTTGAAAGTTTTTCATTATGGAAAATTTGAAACATGTATAAAGAAGAGAGAATGGCGTGCACGCCCCGTGTCTCTCTCAGGAGTGTGCGAGTTTTCGTGTGCAGCCTGTTTCATCCCTGCACCGCACAGGAGGGACACACAGTGCCATCTCACCTGTGTGTACTTCCATACATGTCTCTGGAAGGTGGGGCTCTTTATGTCCTCACCACACCCGAGAACGCGAGCAGCCGTTGCCAGGCCCTGTCGGCGGGAGGAGCGTCCTTGGTGACGTGAACACAGACCTC | benign | 286,631 |
Variant in TBCD (tubulin folding cofactor D), chromosome 17, position 82809706—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome', 'TBCD-related_disorder'] | GCAGCCAAGGGGTAGGTGTCTGTGGCCGCAGAAGCACCCCGGGGGGTGGGCCGGCCTCTCCTGTGCGATTCAGCAGCTACAAATACCCAACAGCTTTGGAGTGGCAGCGCGGCCCCCTCCTCGGCCCCCTCCAACTTATGTGTGTTGCTTTACGTGTTGGCGTGAAGATGGTTCCCGAGGCGGAGCTTCGGTCTCCTCCGTCCTCCTGCCTCTGGCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGTTTATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCACTGTGCCCCCCACCTATCGTTCCCCACAGATGGGGGTCACGGCTCCTACAATGACGGTGCTCAGGGAAGAGCCCTCTTTTGTGGGGTGAGCAGGTGCCAGTCCCTCATTCACCCCTCACTAGCACCTGTCATACCTGTGGGAGTCGACATGCACCCTGCACCCCAGGCCTCAGTGGAGGTCGTGGGGCAGATCCAGTGGGGCCTGGCCTTGAACACAACAGGTGGAGCCCTGGCCTGGAGGAGCCGGTGGCCCTGTGGGCTCGGGCTGTGCAGGGACAGCGATACACGTGAAGAAGATGCTGAAGTGTCGGGGAGGCCCCTGCTGTGGAGGAGAGGAGGCAGGTGCAGGGGCCAGCAGGTGCTGAGGTGTCAGGGAGGTACCTTCTGTGGAGGGGATGAGGCAGGTGCAGGGGCCAGCAGATGCTGGGGTTGGGGGAGGCCCCTGCTGTGGAGAGGATGAGGCAGGTGCGGGGGCAGTAGGTGTTGAGGTGGGGGGAGGCCCCTGCTGTGGAGGGGACGAGGCAGGTGGAGGGGCTGACAGGTGCTGGGGGGCGGGGAGGCCCCTGCTGTGGAGGGGATGAGGCAGGTGGAGGGGTGGCAGGTCCTGGGGGGCGGGTTGGCCCCTGCTGTGGAGGGGATGAGGCAGGTCCAAGGGCTGGCAGGTGCTGGGGGGCAGAGAGAACCCTGCTGTGGAGGGGACAAGGCAGGTGGAGGGGCTGGCAGGTGCTGGGGGGCAGAGAGGCCCCTGCTGTGGAGGGGATGAGGCAGGTGCAGGGGCCGGCAGGTGCTGAGGTGTCAGGGAGGTCCCTGCTGTGGAGGGGACGAGGCAGGTGGAGGGGCTGGCAGGTGCTGAGGTGTCAGGGAGGTCCCTGCTGTGGAAGGGATGAAGCAGGTGGAGGGGCTGGCAGGTGCTGAGGTATCAGGGTGGTCCCTGCTATGGAGGGGACAAGGCAGGTGGAGGGGATAAGGCAGGTGCAGGGGCTGGCAGGTGCTGGGGGATGAGGCAGGTAGAGGGGCCAGCAGGTGCTGGGGGACGGGGAGGCTGGTTTTTGCCATTGCTCTCCCATGCGTCTGTGCTGGGTCCGTCCATACCATGATCTCTGGGAGGAGCTCCACAGGGCTGTGCAGGGGCTCACATAGGCCTTTGTGTTGCTGTACGCAGGGGATGGCTTTTCAGCCCAGAGCCTCGTCTGGTTGGGTGTGATGGGCCCACGCAGTGAGAGGCTGGGCAGGCCTTCCCAGTGTCCTTCCTGGAGGCCCCTGGCCAGGACCTTCCCCACGGGGCCATCTCCAGGGACTTGGACCCTGTGAGCCAGCCTCAGGCGGCCTCCATGTGGGGCCGTGAGCCCATCACCTGGCCTGATGGGTGCCTGCACAGTCAGCGTTTGGGGTGGCACAGAGGAAGCCCGGCTCCAGTAGGGAGGGTCAGGGTGAAGCCCTCAGCGTTCGCCTGCTGCCTCGGTACCCTCAGCCGTCACTGGTGGCCTGCAGCGTCCGCGTTACAGTGGTACATGGTGACCTACCCTGTGCCGCGTGTGCTCACTCGTCCCCTTTGAATCTGGCTGCAGGCTCCTTTACCCTGCAGCGTGTTTTAGCGCGGGGGCTCCAAGCAGGGTGCGGGCTTGCCTGGAGTTGGCCTCTTCTCTCCTGGTCTCTGGAGGAAAGGATGGGTGTTCAGGCCATTCACACGTGTCACGCATGCCCTTGGCGACAGGCTGGTGGTGCCCCTGACGGATTGCTGCGTTTCTCTTTCAGCATCGGTAGGATGGCTGGCAGGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGGTATGTGAGAAGAGCAGGGGAGGCGTGTGGGCCTGACCCTGAGTTGAGAAGCCCTGGCTTTCCTTATATCCTTTCACGCTTGCTTTTCATTGAGCTGTTTGTCAGAACTCCAGAAGCTCTTTTTTCCCCCTTTTGAAGTTAAACTTGAGAACTCTTGTTATTTCTGGTATGTTGCTTTTATCAATTCCATTCTATTTAAAAACCTTAAGGAAAAAGAGAGTCAGTTTAGACATATACCCATGTAGATGTTTATTCTGAAAGGAAAAGCTCTACTGAGTGAGTTGGGGCTGCTCCGAGAGCTTTCTGTGGGAGGTTCGGGTCTACCCCTCGCCTACCCATTAGCCACGTGTATCACTCAGACCTTGAAGTGAGGCTGGTGTGACCAAGGCCTGAGTTTGAATTGGATTTCATTTTAACGAAATGTGAGGCTTTGGGAGGCCAAAGTGGGAGGACGGCTTGAGCCTGTGAATTCAAGACCAGCCTGGGCAACGAAGCGAAACCCCATCTCTACAGAGAGTTAAAAAATTAGCCAGACGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGGCTTCATGAGCCATGATGGTGCCACTGCTGCACTCCAGACTGGGCAACAGAGTGAGACCCGGTCTCAGAACAAAACTGAGTGTAGACAGCCACGTGTGCTGTGCCGCATTTCTCTTGTCAGCCTTCAGGGAGTTCTGGGTCTTGGGACCGTGTGGCTTGTGGGTGGTAAGTTGTGGGCTGGGATGTGCGGGTGGCAGGGCCTGGGATTTCAGCCTGGGGCCTGCAGTCCTGCCCTGGTGTGCTCACACGTGTGAGGCATCGATCTGTGACCTCCCCAGGGAATTCTCCCTTTTGCTTGTGTAAATGTCTCTCCCAGTTTCAGAAGCGGAGGGTCGAGAGCAGGCGTCCAGCTTGCTCAGGACCCCGGGCGTGCTGTTGCTCTTCATTAGCCTGGACACCGTGGCGAAAGCTGTGCTGTCAGCACTTTGGAGGCTCCAGTTCGCGTTGCCTGTCAGTCACCAGGGACAGCTCCGGAGCCGTTCACAAAGCCTTGTTTTCCTTCTGGAGGAGATTTCTTGTGCACTTAGCCTCCAGCCTGCTCAGTGACAATTTCAGGAGCACAGGAAACAATGTGTCAGATACGGGTCATGTTTTTCAGAGCAGTGTGCATGCATGTGTGAGAAATATTCTTCCAGTGGAAACATTGCTAGCAGAAAACATGCTCTTTACCACAACTGCTTGATGGGAGGCAGGGGTTGGAGGGTGCTACGTGCTTGGCTTCTCTGTAGGCGACCTCCAGCCTTGTTTCAGGCGTGTCCCTGGAGCTCCTTTCTGGTGGTCATGGTGGGCATATGTCCTCCTGTCGCCTGGTGCCACCTGCGGCCTTCACAACAGTGTGGTGGGCTCCAGGCCGGGCCTGCCTGTGCCTGTCTGGACTTTGCCTCTCTCCTCCAGCCGCTGGGCGGCCTGCTCATCAGGCCTAGTGCGTCTCCTAAACTCACTGTGTGTCTTTCCCTCCACAACGTGCAGCCTCTCTGGACTGTGTGTTCCTTACTCTAGCTCACCTTCTTGGTCTAGTTTCATTTTTCCTGGCTGGTTTAATCTTCAGGTGCTTTTTAACCTTTATTTTTGTTATTTTAATGTGCTCATTCCATTTTTGTAGCTAGGTTCTGGGACGGGGTGGCCTTTTTACTCTTGATTTCGCAGGGCCTTCATCCCAAAGTAGCTGCAGGGCCATCATCCCGAGTCCTCGCAGGATGCAGCTCTGGTCAGTGCCTGCCTTCCCTTTTCCTGGGTGCTCAGTGTGTGATTGTCAACCGTGGCATAAAAAGGCGGCTCTGGACAGCGCCTGCTTTCCCTTTCGCTGGGTGCTCAGCATGTGATTGTCAACCATGGCATAAAAAGGTGCAGCCTCAGAGCAGGATGTCTGAAGACACC | GCAGCCAAGGGGTAGGTGTCTGTGGCCGCAGAAGCACCCCGGGGGGTGGGCCGGCCTCTCCTGTGCGATTCAGCAGCTACAAATACCCAACAGCTTTGGAGTGGCAGCGCGGCCCCCTCCTCGGCCCCCTCCAACTTATGTGTGTTGCTTTACGTGTTGGCGTGAAGATGGTTCCCGAGGCGGAGCTTCGGTCTCCTCCGTCCTCCTGCCTCTGGCTGGCCCTGCCGGGTCACGAGCAGGCCGGGTTTACCTGTTTATCTTCAAAATGTTCCCTTGCTTTTCCACATCCTCATCACTGTGCCCCCCACCTATCGTTCCCCACAGATGGGGGTCACGGCTCCTACAATGACGGTGCTCAGGGAAGAGCCCTCTTTTGTGGGGTGAGCAGGTGCCAGTCCCTCATTCACCCCTCACTAGCACCTGTCATACCTGTGGGAGTCGACATGCACCCTGCACCCCAGGCCTCAGTGGAGGTCGTGGGGCAGATCCAGTGGGGCCTGGCCTTGAACACAACAGGTGGAGCCCTGGCCTGGAGGAGCCGGTGGCCCTGTGGGCTCGGGCTGTGCAGGGACAGCGATACACGTGAAGAAGATGCTGAAGTGTCGGGGAGGCCCCTGCTGTGGAGGAGAGGAGGCAGGTGCAGGGGCCAGCAGGTGCTGAGGTGTCAGGGAGGTACCTTCTGTGGAGGGGATGAGGCAGGTGCAGGGGCCAGCAGATGCTGGGGTTGGGGGAGGCCCCTGCTGTGGAGAGGATGAGGCAGGTGCGGGGGCAGTAGGTGTTGAGGTGGGGGGAGGCCCCTGCTGTGGAGGGGACGAGGCAGGTGGAGGGGCTGACAGGTGCTGGGGGGCGGGGAGGCCCCTGCTGTGGAGGGGATGAGGCAGGTGGAGGGGTGGCAGGTCCTGGGGGGCGGGTTGGCCCCTGCTGTGGAGGGGATGAGGCAGGTCCAAGGGCTGGCAGGTGCTGGGGGGCAGAGAGAACCCTGCTGTGGAGGGGACAAGGCAGGTGGAGGGGCTGGCAGGTGCTGGGGGGCAGAGAGGCCCCTGCTGTGGAGGGGATGAGGCAGGTGCAGGGGCCGGCAGGTGCTGAGGTGTCAGGGAGGTCCCTGCTGTGGAGGGGACGAGGCAGGTGGAGGGGCTGGCAGGTGCTGAGGTGTCAGGGAGGTCCCTGCTGTGGAAGGGATGAAGCAGGTGGAGGGGCTGGCAGGTGCTGAGGTATCAGGGTGGTCCCTGCTATGGAGGGGACAAGGCAGGTGGAGGGGATAAGGCAGGTGCAGGGGCTGGCAGGTGCTGGGGGATGAGGCAGGTAGAGGGGCCAGCAGGTGCTGGGGGACGGGGAGGCTGGTTTTTGCCATTGCTCTCCCATGCGTCTGTGCTGGGTCCGTCCATACCATGATCTCTGGGAGGAGCTCCACAGGGCTGTGCAGGGGCTCACATAGGCCTTTGTGTTGCTGTACGCAGGGGATGGCTTTTCAGCCCAGAGCCTCGTCTGGTTGGGTGTGATGGGCCCACGCAGTGAGAGGCTGGGCAGGCCTTCCCAGTGTCCTTCCTGGAGGCCCCTGGCCAGGACCTTCCCCACGGGGCCATCTCCAGGGACTTGGACCCTGTGAGCCAGCCTCAGGCGGCCTCCATGTGGGGCCGTGAGCCCATCACCTGGCCTGATGGGTGCCTGCACAGTCAGCGTTTGGGGTGGCACAGAGGAAGCCCGGCTCCAGTAGGGAGGGTCAGGGTGAAGCCCTCAGCGTTCGCCTGCTGCCTCGGTACCCTCAGCCGTCACTGGTGGCCTGCAGCGTCCGCGTTACAGTGGTACATGGTGACCTACCCTGTGCCGCGTGTGCTCACTCGTCCCCTTTGAATCTGGCTGCAGGCTCCTTTACCCTGCAGCGTGTTTTAGCGCGGGGGCTCCAAGCAGGGTGCGGGCTTGCCTGGAGTTGGCCTCTTCTCTCCTGGTCTCTGGAGGAAAGGATGGGTGTTCAGGCCATTCACACGTGTCACGCATGCCCTTGGCGACAGGCTGGTGGTGCCCCTGACGGATTGCTGCGTTTCTCTTTCAGCTTCCCAGAGCCCTGGCGGATGATGTGGTCGGGTCTGTGCTGGACTGCTTCAGGTATGTGAGAAGAGCAGGGGAGGCGTGTGGGCCTGACCCTGAGTTGAGAAGCCCTGGCTTTCCTTATATCCTTTCACGCTTGCTTTTCATTGAGCTGTTTGTCAGAACTCCAGAAGCTCTTTTTTCCCCCTTTTGAAGTTAAACTTGAGAACTCTTGTTATTTCTGGTATGTTGCTTTTATCAATTCCATTCTATTTAAAAACCTTAAGGAAAAAGAGAGTCAGTTTAGACATATACCCATGTAGATGTTTATTCTGAAAGGAAAAGCTCTACTGAGTGAGTTGGGGCTGCTCCGAGAGCTTTCTGTGGGAGGTTCGGGTCTACCCCTCGCCTACCCATTAGCCACGTGTATCACTCAGACCTTGAAGTGAGGCTGGTGTGACCAAGGCCTGAGTTTGAATTGGATTTCATTTTAACGAAATGTGAGGCTTTGGGAGGCCAAAGTGGGAGGACGGCTTGAGCCTGTGAATTCAAGACCAGCCTGGGCAACGAAGCGAAACCCCATCTCTACAGAGAGTTAAAAAATTAGCCAGACGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCACTTGAGGCCAGGAGTTTGAGGCTTCATGAGCCATGATGGTGCCACTGCTGCACTCCAGACTGGGCAACAGAGTGAGACCCGGTCTCAGAACAAAACTGAGTGTAGACAGCCACGTGTGCTGTGCCGCATTTCTCTTGTCAGCCTTCAGGGAGTTCTGGGTCTTGGGACCGTGTGGCTTGTGGGTGGTAAGTTGTGGGCTGGGATGTGCGGGTGGCAGGGCCTGGGATTTCAGCCTGGGGCCTGCAGTCCTGCCCTGGTGTGCTCACACGTGTGAGGCATCGATCTGTGACCTCCCCAGGGAATTCTCCCTTTTGCTTGTGTAAATGTCTCTCCCAGTTTCAGAAGCGGAGGGTCGAGAGCAGGCGTCCAGCTTGCTCAGGACCCCGGGCGTGCTGTTGCTCTTCATTAGCCTGGACACCGTGGCGAAAGCTGTGCTGTCAGCACTTTGGAGGCTCCAGTTCGCGTTGCCTGTCAGTCACCAGGGACAGCTCCGGAGCCGTTCACAAAGCCTTGTTTTCCTTCTGGAGGAGATTTCTTGTGCACTTAGCCTCCAGCCTGCTCAGTGACAATTTCAGGAGCACAGGAAACAATGTGTCAGATACGGGTCATGTTTTTCAGAGCAGTGTGCATGCATGTGTGAGAAATATTCTTCCAGTGGAAACATTGCTAGCAGAAAACATGCTCTTTACCACAACTGCTTGATGGGAGGCAGGGGTTGGAGGGTGCTACGTGCTTGGCTTCTCTGTAGGCGACCTCCAGCCTTGTTTCAGGCGTGTCCCTGGAGCTCCTTTCTGGTGGTCATGGTGGGCATATGTCCTCCTGTCGCCTGGTGCCACCTGCGGCCTTCACAACAGTGTGGTGGGCTCCAGGCCGGGCCTGCCTGTGCCTGTCTGGACTTTGCCTCTCTCCTCCAGCCGCTGGGCGGCCTGCTCATCAGGCCTAGTGCGTCTCCTAAACTCACTGTGTGTCTTTCCCTCCACAACGTGCAGCCTCTCTGGACTGTGTGTTCCTTACTCTAGCTCACCTTCTTGGTCTAGTTTCATTTTTCCTGGCTGGTTTAATCTTCAGGTGCTTTTTAACCTTTATTTTTGTTATTTTAATGTGCTCATTCCATTTTTGTAGCTAGGTTCTGGGACGGGGTGGCCTTTTTACTCTTGATTTCGCAGGGCCTTCATCCCAAAGTAGCTGCAGGGCCATCATCCCGAGTCCTCGCAGGATGCAGCTCTGGTCAGTGCCTGCCTTCCCTTTTCCTGGGTGCTCAGTGTGTGATTGTCAACCGTGGCATAAAAAGGCGGCTCTGGACAGCGCCTGCTTTCCCTTTCGCTGGGTGCTCAGCATGTGATTGTCAACCATGGCATAAAAAGGTGCAGCCTCAGAGCAGGATGTCTGAAGACACCNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 286,641 |
Chromosome 17, position 82929490, gene TBCD (tubulin folding cofactor D): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Early-onset_progressive_diffuse_brain_atrophy-microcephaly-muscle_weakness-optic_atrophy_syndrome', 'TBCD-related_disorder'] | GTTTTAAAGGCTCTGGGGAAGATGACCTGTTCTCTGCTCCCGGGTGAGCCTGCGTGGCAGGGCTTTGCAGGTGCTTGTCCAGCCCGTCCTCAGGTGTTGGGCCTGTGTCGTCCTCGTTGACAGGGTGTGAGGGAGGACGCGTCTTCAATGAAAGGCTGCCGGCTGCTTACATTGGGTTTTGCCAACATTTCTTGCTGTAGTGGGATTGATAACCCCTGAAACGCCTGTGTGTGTAGGATGCCTCGGGGCCCCGGTGTGTGTGGCTGTGGGTGGCTCCCTGCACACGTCCCTGTAGCGCACAGGGAACCTCTGCAGGCCCCGTGACTCCCTGGCAGCGTGCCTGGGCTCTGTGTGGGGTTAGTCACGGGTGTCGAATTCACACAGGCTGCCGGCGTGGTGGGCAGAACCAGGGTTGGAACCCCCCTCTCAAGCTGGGTGTCTCTGCCTCTCCTTGTCCCATCAGGGTCCGCAAGGCCGCCATGACCAGTCTGATGGATCTGACACTTCTGCTGGCTCGGAGCCAGCCTGAGCTGATCGAGGCCCATACGTGAGTGTCACGTCGCAGCTCTTCTGCATCCTAGAGGGCAGCCCCGAGCTTGGGGAGGCTGGCGGGGCGGGCGGTCCTGGTGCTCAGTGGCATTTGCACTGCTGGGCACACACCCTCCTCCCAGAGAGCCTCTCTGGTCCCTGACCCCAGGTTTGTGCAGGCCCCTCCTCCTGCCCCCATAGCCATGGCGTGAGCTGGGGCCCATCCTCCTCTGCCCAGTGCCCCCAGGACGAGGCTCTGCTCCCCAGCCTGGGCCTCCAACGGTGCTCTGGCCAGTTTGATGACAGCCAGCTTCCCGGGGTAGGGCCGGGCAGGAGGTGGGGACTTCTCAGCTTAGGACCCTGAACCTGGGGGTCTGCTCCTGCCAGGACCAGCTGAGCCATCACTCAGTTCCCTGCACCTGAGGCTGCCATTGGGGCCTGCCCTTGCTGTGTGTCTCTGTCGGGGGCACGGGGTTGTGGGTACCCCCAGGCCCTGCCCTTTCTGTCGGTCTCTCTGTCGGGGGCACTGAGTCATGGAGGTCCAGGCCCTGCCCTTGCGGATCTCTGTCAGGGGCACTCAGTCAGGGGGTCCAGGCCCTGCCCTTGCGGGTCTCTGTCGGGGGCACTGAGTCATGGGGGTCCAGGCCCTGCCCTTGCTGTCAGTCTCTCTGTCAGGGACACTCGGCCGTGGGGATCCCAGGGCCTGATTTCCTTAGTTCTCACCTCTTTCTCTTTCCCCCTCCCCATCTCTTCCCCAGCCCCAGCTTCTCTCTCCCCATCCCCGGCCTCTCTGTCCCCATCACTCTTCTCCACCCGCTCCTGTAATCCTATTTGTTGTCCCTGCTTCAACCCTAAGACCTCATCAGCACGCATGTAACACGTAGCACATGTGTAACAAGTACGTAGCATGTATTTGCTGCGCACCTGTAGGGTTGGGCTCCTGGGATGTGAAGGTAACGGAGTGTGGTTCTTCCGAGCCAGTGTCCTGGTGTCAGCTGCCAACTCAGCCACCATGTCCCGAGGAGCCCGCATGTCCTCGTGGTGCTTGGGCTGGAGTCACGGCTCGGACCGCCTGTGCTCAGTTTACCGCCCGCTCTTAATTTACCGCCCGCCCTTGGTTTACCTCCTGCTCTCGGTTTGCAGCTGTGAGCGCATCATGTGCTGTGTGGCCCAGCAGGCCAGTGAGAAGATTGACCGTTTCCGTGCTCACGCCGCCAGCGTGTTCCTGACGCTCCTGCACTTTGACAGCCCTCCCATCCCCCACGTGCCCCACCGAGGAGAACTGGAAAAGCTGTTTCCCAGGTACTGTCGGGGTGTAGGCCCCCCGTGCTGGCCCCGCAGCCATGGCGAGATCATTGGCAGCCCGGCCTTGTCTCACTCACTCTCTTGCAGGTCCGATGTGGCCTCCGTGAACTGGAGTGCACCTTCCCAGGCCTTCCCACGCATCACCCAGCTCCTTGGGCTGCCCACCTACCGCTACCACGTCCTGCTGGGGCTAGTCGTGTCCCTGGGCGGCTTGACGGAGTCGACGGTGAGGAGGCGTCGGGCTGGCTGGGGCAGGAGGTGGCTCCAGGAGTGCCTGGTGCTTCCCTGTCTCTTGGGAGCATGTATGGAGCTGGGCCTTTTCTTCCATTGCTTTCTATCTCTCTCGGGCATATTTGGTTAGGGGGTCAGGGGCCCAGTGTCTTCCTCATGACCCAGGAGGCTTAGGGCCTGTGGGATGGTTGAGTCTGATGAAGGTGGGACAGGGCCAGCGCCACTCTCTTCCTGCGGCCGCAGCCTTGGAGCTCCCAGCGTCCCCTCGGGGTTCAATCCTCCAGGACCTGTGTCTGATGCCTGCATGTGGGTACCTGGGCTCCATCAGGTTCTAGATCGGCCTCCGCCCTCCACTTTCAGGGCTCCAGGCCCAGCTTCTCATGTCTGTGGGGAGGGTCTCCAGAGCCTTGGTCTGTGGCTGAGCTGTGGAACTTGAAGGCCTCTCTGCATCTTGTCACTCGTGGCCCCTGCACCTTGGGTCATGACCTGCTTTATGTGGCAACCCTGTGACAGCTGCTAAGTCCTAGAAAACACGTAACAGGACGTGAGGTGCCCTCTGCGCCGTGTGGGCGCGTGCGGGGAGACCCGGGCCCCAGGACGTGAGGTGCCCTCTGCGCCGTGCGGGCGCGTGCGGGGAGACCCGGGCCACATGCGAGCGGGGCCCCGAGACATTCTGCACTCGGGAATTGCGGGGATTATCAAATCCCGCTTCAGTGGGAAACGTGAGCGAAACCCAAGGTGAGTGGCCGCAGCCTTTCGTCACGTGCTCTCCCGCATGTCCTAAGTGAGGGCTCAGGCTGAGCTGCCGTTGCCGAGAGCCTTGTGTCTGCTTCGGGTGTCTGCACTGTGAGTGGCTCCGTGCTGGCGTCCGCACCAGCCGCTTGGGGCCAGACCTTCGCGTCTCTGCAGCTCGGAGCAGTTCTGCTCTTCAGCAGATGCTTGACCGGCTGTAGCCAAGCCTGAGGGGTGGCAGGCTCGGGGGTCCCACTGCCTTCTGAGGTGTCTCCGTGTTGCAGATCCGGCACTCCACCCAGAGCCTCTTTGAGTACATGAAGGGCATTCAGAGCGACCCGCAGGCCCTGGGCAGCTTCAGCGGGACCCTTCTGCAGATCTTTGAGGACAACCTTCTGAATGAGAGGTGAGTGGTGTCTCTTGGGGCCTCAGAGGCGTGAGTGGTGCTGGTGCCTCTCACCACGTTCCCACAGATTCCCGGGGTCTCGCAGGGTCTGTCTGGGGTCTGAAGGGAGAAGCGAGACACACGCTGTACCAGTTGGTGGCTCAGCGAGGAAGATGTGCCTGCAGCATATGGTTCTCCGGGCGGCCAGGCCTCAGCCCCTGCGCCTCCTCTTCTAGCCTCCACATGAGGCAGGGAAATGACCGTTGTGTGTACAATGGACGTAAAGGTAGTATGAGTACAAGGTGGTCCCTGTGTGTAGGAAGGCGTTGTGGGAGCTCCTCCAGCTTGGTGCTCCCACGGACGTGCTTGCGGACGCTCATCAGCCACCCGGCAAGTGAGAGCTCTGTGTTCCTGAGGATGGAATGTCAAGTGAGAAACATCGCTGCTTTCTAGAAGTTTCTGGCTTTACATGGAGGCAGAGTATAGACCCTGTGGGCCTTGACCTCAGAATTGGGAACATCCTCTGGAAGGGTTGTTCCCAGCATGTGCGAGGACGAGGACACGGGCCTGGTGTCCCCTCGGGCGGGGCCTCGGCAGCCTCTCCCATGAGAGCACAGATGCCGCTCTCGGCAAACAGGAACTCGGCCCAGCCATGTTTTCTTTTCTCGTTACGACTATAATCAGCTGCACATAAAGGGGCAGTTCGATCGATTTTGATAGGTGTCCACCCTTAAAATCTTCCCCAGTCAGGACGGTGGGCTCCAGCCCAAGGTTTCCTCCCAGCCCTTCGAGTCCGTGCCCCTGACCTGCGTCACCATAGCCTCAGCCCATGGTCACTTGAGGCGCTGGGCCGCGTGCCGGTCGCTCATTCCTCCGTGCCGGTCGCTCATTCCGCCTTGCCGTTCGCTCATTCCT | GTTTTAAAGGCTCTGGGGAAGATGACCTGTTCTCTGCTCCCGGGTGAGCCTGCGTGGCAGGGCTTTGCAGGTGCTTGTCCAGCCCGTCCTCAGGTGTTGGGCCTGTGTCGTCCTCGTTGACAGGGTGTGAGGGAGGACGCGTCTTCAATGAAAGGCTGCCGGCTGCTTACATTGGGTTTTGCCAACATTTCTTGCTGTAGTGGGATTGATAACCCCTGAAACGCCTGTGTGTGTAGGATGCCTCGGGGCCCCGGTGTGTGTGGCTGTGGGTGGCTCCCTGCACACGTCCCTGTAGCGCACAGGGAACCTCTGCAGGCCCCGTGACTCCCTGGCAGCGTGCCTGGGCTCTGTGTGGGGTTAGTCACGGGTGTCGAATTCACACAGGCTGCCGGCGTGGTGGGCAGAACCAGGGTTGGAACCCCCCTCTCAAGCTGGGTGTCTCTGCCTCTCCTTGTCCCATCAGGGTCCGCAAGGCCGCCATGACCAGTCTGATGGATCTGACACTTCTGCTGGCTCGGAGCCAGCCTGAGCTGATCGAGGCCCATACGTGAGTGTCACGTCGCAGCTCTTCTGCATCCTAGAGGGCAGCCCCGAGCTTGGGGAGGCTGGCGGGGCGGGCGGTCCTGGTGCTCAGTGGCATTTGCACTGCTGGGCACACACCCTCCTCCCAGAGAGCCTCTCTGGTCCCTGACCCCAGGTTTGTGCAGGCCCCTCCTCCTGCCCCCATAGCCATGGCGTGAGCTGGGGCCCATCCTCCTCTGCCCAGTGCCCCCAGGACGAGGCTCTGCTCCCCAGCCTGGGCCTCCAACGGTGCTCTGGCCAGTTTGATGACAGCCAGCTTCCCGGGGTAGGGCCGGGCAGGAGGTGGGGACTTCTCAGCTTAGGACCCTGAACCTGGGGGTCTGCTCCTGCCAGGACCAGCTGAGCCATCACTCAGTTCCCTGCACCTGAGGCTGCCATTGGGGCCTGCCCTTGCTGTGTGTCTCTGTCGGGGGCACGGGGTTGTGGGTACCCCCAGGCCCTGCCCTTTCTGTCGGTCTCTCTGTCGGGGGCACTGAGTCATGGAGGTCCAGGCCCTGCCCTTGCGGATCTCTGTCAGGGGCACTCAGTCAGGGGGTCCAGGCCCTGCCCTTGCGGGTCTCTGTCGGGGGCACTGAGTCATGGGGGTCCAGGCCCTGCCCTTGCTGTCAGTCTCTCTGTCAGGGACACTCGGCCGTGGGGATCCCAGGGCCTGATTTCCTTAGTTCTCACCTCTTTCTCTTTCCCCCTCCCCATCTCTTCCCCAGCCCCAGCTTCTCTCTCCCCATCCCCGGCCTCTCTGTCCCCATCACTCTTCTCCACCCGCTCCTGTAATCCTATTTGTTGTCCCTGCTTCAACCCTAAGACCTCATCAGCACGCATGTAACACGTAGCACATGTGTAACAAGTACGTAGCATGTATTTGCTGCGCACCTGTAGGGTTGGGCTCCTGGGATGTGAAGGTAACGGAGTGTGGTTCTTCCGAGCCAGTGTCCTGGTGTCAGCTGCCAACTCAGCCACCATGTCCCGAGGAGCCCGCATGTCCTCGTGGTGCTTGGGCTGGAGTCACGGCTCGGACCGCCTGTGCTCAGTTTACCGCCCGCTCTTAATTTACCGCCCGCCCTTGGTTTACCTCCTGCTCTCGGTTTGCAGCTGTGAGCGCATCATGTGCTGTGTGGCCCAGCAGGCCAGTGAGAAGATTGACCGTTTCCGTGCTCACGCCGCCAGCGTGTTCCTGACGCTCCTGCACTTTGACAGCCCTCCCATCCCCCACGTGCCCCACCGAGGAGAACTGGAAAAGCTGTTTCCCAGGTACTGTCGGGGTGTAGGCCCCCCGTGCTGGCCCCGCAGCCATGGCGAGATCATTGGCAGCCCGGCCTTGTCTCACTCACTCTCTTGCAGGTCCGATGTGGCCTCCGTGAACTGGAGTGCACCTTCCCAGGCCTTCCCACGCATCACCCAGCTCCTTGGGCTGCCCACCTACCGCTACCACGTCCTGCTGGGGCTAGTCGTGTCCCTGGGCGGCTTGACGAGTCGACGGTGAGGAGGCGTCGGGCTGGCTGGGGCAGGAGGTGGCTCCAGGAGTGCCTGGTGCTTCCCTGTCTCTTGGGAGCATGTATGGAGCTGGGCCTTTTCTTCCATTGCTTTCTATCTCTCTCGGGCATATTTGGTTAGGGGGTCAGGGGCCCAGTGTCTTCCTCATGACCCAGGAGGCTTAGGGCCTGTGGGATGGTTGAGTCTGATGAAGGTGGGACAGGGCCAGCGCCACTCTCTTCCTGCGGCCGCAGCCTTGGAGCTCCCAGCGTCCCCTCGGGGTTCAATCCTCCAGGACCTGTGTCTGATGCCTGCATGTGGGTACCTGGGCTCCATCAGGTTCTAGATCGGCCTCCGCCCTCCACTTTCAGGGCTCCAGGCCCAGCTTCTCATGTCTGTGGGGAGGGTCTCCAGAGCCTTGGTCTGTGGCTGAGCTGTGGAACTTGAAGGCCTCTCTGCATCTTGTCACTCGTGGCCCCTGCACCTTGGGTCATGACCTGCTTTATGTGGCAACCCTGTGACAGCTGCTAAGTCCTAGAAAACACGTAACAGGACGTGAGGTGCCCTCTGCGCCGTGTGGGCGCGTGCGGGGAGACCCGGGCCCCAGGACGTGAGGTGCCCTCTGCGCCGTGCGGGCGCGTGCGGGGAGACCCGGGCCACATGCGAGCGGGGCCCCGAGACATTCTGCACTCGGGAATTGCGGGGATTATCAAATCCCGCTTCAGTGGGAAACGTGAGCGAAACCCAAGGTGAGTGGCCGCAGCCTTTCGTCACGTGCTCTCCCGCATGTCCTAAGTGAGGGCTCAGGCTGAGCTGCCGTTGCCGAGAGCCTTGTGTCTGCTTCGGGTGTCTGCACTGTGAGTGGCTCCGTGCTGGCGTCCGCACCAGCCGCTTGGGGCCAGACCTTCGCGTCTCTGCAGCTCGGAGCAGTTCTGCTCTTCAGCAGATGCTTGACCGGCTGTAGCCAAGCCTGAGGGGTGGCAGGCTCGGGGGTCCCACTGCCTTCTGAGGTGTCTCCGTGTTGCAGATCCGGCACTCCACCCAGAGCCTCTTTGAGTACATGAAGGGCATTCAGAGCGACCCGCAGGCCCTGGGCAGCTTCAGCGGGACCCTTCTGCAGATCTTTGAGGACAACCTTCTGAATGAGAGGTGAGTGGTGTCTCTTGGGGCCTCAGAGGCGTGAGTGGTGCTGGTGCCTCTCACCACGTTCCCACAGATTCCCGGGGTCTCGCAGGGTCTGTCTGGGGTCTGAAGGGAGAAGCGAGACACACGCTGTACCAGTTGGTGGCTCAGCGAGGAAGATGTGCCTGCAGCATATGGTTCTCCGGGCGGCCAGGCCTCAGCCCCTGCGCCTCCTCTTCTAGCCTCCACATGAGGCAGGGAAATGACCGTTGTGTGTACAATGGACGTAAAGGTAGTATGAGTACAAGGTGGTCCCTGTGTGTAGGAAGGCGTTGTGGGAGCTCCTCCAGCTTGGTGCTCCCACGGACGTGCTTGCGGACGCTCATCAGCCACCCGGCAAGTGAGAGCTCTGTGTTCCTGAGGATGGAATGTCAAGTGAGAAACATCGCTGCTTTCTAGAAGTTTCTGGCTTTACATGGAGGCAGAGTATAGACCCTGTGGGCCTTGACCTCAGAATTGGGAACATCCTCTGGAAGGGTTGTTCCCAGCATGTGCGAGGACGAGGACACGGGCCTGGTGTCCCCTCGGGCGGGGCCTCGGCAGCCTCTCCCATGAGAGCACAGATGCCGCTCTCGGCAAACAGGAACTCGGCCCAGCCATGTTTTCTTTTCTCGTTACGACTATAATCAGCTGCACATAAAGGGGCAGTTCGATCGATTTTGATAGGTGTCCACCCTTAAAATCTTCCCCAGTCAGGACGGTGGGCTCCAGCCCAAGGTTTCCTCCCAGCCCTTCGAGTCCGTGCCCCTGACCTGCGTCACCATAGCCTCAGCCCATGGTCACTTGAGGCGCTGGGCCGCGTGCCGGTCGCTCATTCCTCCGTGCCGGTCGCTCATTCCGCCTTGCCGTTCGCTCATTCCTN | pathogenic | 286,712 |
Is the genetic mutation found on chromosome 18 at position 2707835, within the gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2'] | GGAGAGGTTCAAATTGCAATGGTAAGACAGCAAGTGATAAAACATACTGAAAGTTTCTTGATAACACTTTTGCATAATTGTTAAGATACAGTATATTTCGCTAGTGACTAGTTTTCCATTGGATAAAGTGGTTGTAGTTTTTGTGTGGATTTTTATGTGTCATAAGTTGATGTTTTTAATAATCTATACAATTTAACATCATATGCTCAGTTTTTGTAAACATATATACATTATAACTAGTTACCAAATTAATTTTATAAAGTCATATTTCCTCTAGGGCCCACTAACTAGTAAACATTGGAGCCAGAATTCTATCTCAGCAATGAGTAACTACAAAACTGGAGTGGGTTTTTTCCCTATACCATGCTTTCTTGTTAATGTTTGATATGTTAGGACTACAGAGGTTATATAAAAAATATAAACAAACATTGTGGTGTAACGTAAGAATAGCTACTGTTATTTATGTACTTAATTAGGATAAAATATATTTCTTTGGAAGAAACAAATGGGTGTTTGTTTTTATTACAGCTAGATTTAAATAGTTTTCTTTGAAATGTTGGTAAATGTATTTATTCAGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGTAAGTCACACTTCAAGATGCATGACAAAAATAAGAAAAATTGGAAAGAATTGTGCTGTAAGTATTCTGAGTATGTCATTTACTCTGCTGTTAGGGCATTTGTAGTCTTAGATATTGTACCTATTGAGATGAACTTCTTGTTGAAAAAAATTAAGAGGTCTAGTTATACAAACAGAATTCTGCATTTGTTTTGTAGACAAAGAAGGAAATCTTATATATCTAAAGTGTCACTTTTATAGGCACTATGATTAACATGTTTTAAAAAAACTCAGTTTGGCCTACAACTAGGATATTACAATACCTGCTGAGAGGTAAAGATGAGTGTATTAGTTCGTTTTCACACTGCTATAAAGATACTACCTGAGACTGGGTAATTTATAAAGCAAGGAGGTTTAATTGACTCAGTCGTGCATGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCATAAGGCGAAGGGGAAGCAAGCCATGTCTTACATGGGCGGCAGAAGAGAGAGAGAGGGAAGGGGGAACTGTCAAACACTTTAAAAATCATCAGCTCTCGTGAGAACTCACTATCAAGAGAACAGCATGGGGGAAACCATTCCTGTGATCCAATCACCGCCCACCAGGTCCCTCCCTTGACACCTGGGGATTAGAATTCGAGATGAGATTCGGATGGGGACACAGAGCCAAACCTTATCAGTGAGTTATAAAGAAGAAGAAGGAAGTAGAAAGTGGCTTTTCTTCTTGTATAGCTAATGATGCAATCATTTTGATTCTTACTGAATTTTGATTCTTAGGGGTTATCCTGTCTTCTAAAGGTAATTTGTACTATAAACAAGTAGAAAAAAAAAATCAACAAAAATTTGACAGTTTCTGGCTTTTAATTCCAAAAGGTTTTTTTTTTTCTTCTTCTTTTTTTTCAGTAGCCACAGGAATGGTTAGGGAGGAAAAAAATTTTTAGATGATTAATCGTAAAGAATTCCAGATTTAACCTTTTAAAATATATCAGCAATAAATATTTAAGTTTCTAATAACTCGTATCTTTTTAATTAAGATCATAATTAACAAAGTTTGTGGAACATTAATATGCTGGTTTCATAACAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTATGTTTGTTTATTTTTCTAATACCAAAAAGTGTGCTTTTCTTTTGTCTTACATTTCCAATATGTAAAAGGTCACGAGATATTAAAATGCAATGGGAAGATTTGGCAGATTCAGCAAATTTTTGGGTGTAATTAAGATACTTTTAATTTTTGACTCATAGGTGCGTTAAGAATTGAAATACTGAATAAAAAAGGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTGTAAGTATACAAACTAATTTAGATCTTTAATATTGTTTTTAAAATATAATATCAAATTAAATATCTTCATGTAATTATTGATGACCTAGCAATCTGATAGGCATAGCAAATTTTATTGAAGTTAGGAATTTCAGGAATGTTATGAATAGCTCATTTTCTTGGTGGATATTTTTCTAAGGTTTTTAAAAAATACTTCATCTTGAATTTTTTCATGTGGGTAACTGGGCTAAAGTAAAGGCATGATACATATATGTAGAAGAATTTGCAGTAGGAATTTCTATAAGCATATATGTATTATTACAGTTCTAATAATTACAGTAATAATTACAGTATTGATTACAGTATTATTAGTCATCCAAAACAGGTTTCACTGAGCTAAAATTAAAGTGTCTTCAGGACTGCATTTCTTCCTGGAGGTTCTGGGTGAGCCTTGCCTTTTCTGCCTTTTAGAAGTTACTCTCAGCTGGGCTTGGTGGCACGAGCCTATATAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAAAATTGCTTGAGCCCAGGAGTTCGAGGCTACAGTGAGCTATGATCACGCCACTGCACTCCAGCCTGGGTGGTAAAGTAAGACCCTGTCTCTAAAAAATAAATAAATCACACAGAAGCACCACTCTCATTCCTTCATCTTCAAAGCCAGCAGTGCAGCACCTTTCATGACCTTCCTGCTTTTTTTTTTTTTGAGACAGAGCTTCGCTCTTGTTGCCCAGGCTGGAATACATAATGGCACAATTTAGGCTCACTGCAACCTCCGCTTCCCCTGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCCGGGATTACAGGCACATGCCACCACTCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCTGCTTCTATTTTCAATAACTTCATATATATATATATATATATATATATATATATATATATATAACATATTAACATGAAATTTATGAAGTGGCATTAAGTACATTCATATTGTTGTGCAACCATTACCACTATCCATGTAAAGCATTTTTTCATCATTTCAAACTGAAACTCTATAGTAATAACTCTTCATCACTCCTTTCTCCCTGCCCTGGTAACTACTTTTTAACTTTCTGTCTCTGAATTTGACTATTTTAGGTACCTCATAAAAATGGAATTATATTTGTCCTTTGTGTCTGGCCTGTTTCGCTTAGCATAGTGTGTCAGAATTCCCATTCCTTCTTAAGGTTGAATAATATTCCCTTGTGTGTGTATATATGTGTATATGTGTATATATATATATATATACACACACACATGTATACACATACACCATATTTTGTTTATCCATTTGTTTGATGGATACTCAGGTTACTTTCACCTGTTGTCTATCGTGAAGAATGCTCCTGTGAACATCAGTGTACAAATAGTTCTTTGAGTCTCCGCTTTGGTTCCTTTTAGATACATTCCCAAAAGTGGACTTGCTGGGTCATATTATTATTTAATTTATTGAGAAACTGCCGTACTGTTTTCCACAGTGGTTGCCTCATTGTACATTCCAGTTTCTCCATGTCACCCCCACTTGTTATTTCCTGTGGGTTTTTTTGTGGGGGACGGATAATAGCCATCCTAACAGATATGAAGTGGTATCTTACTGTGGTTTTTTCCCCCCTTTTTCCTACTAAAGATAATTGTGGTTTTGATTTGCATTTCCCCAATATTCAGTGATTTTGGCCATCTTTTTATGGGCTAATTGCCATCTGTATATCTTCTTTGGACAAAGGTCTATTCAGGTCCTTTGGCCATTTTTAAATTTTGTTGTTGAGTTGTAAGAGTTCTTTATAATCCTGGATATTAATCCCTTATCAGATAAATGATTTACAGATATTTTCTTCCACTCTGTGGGTTGCTTTTTCACTTTGTCAATGGTGACTGTGATG | GGAGAGGTTCAAATTGCAATGGTAAGACAGCAAGTGATAAAACATACTGAAAGTTTCTTGATAACACTTTTGCATAATTGTTAAGATACAGTATATTTCGCTAGTGACTAGTTTTCCATTGGATAAAGTGGTTGTAGTTTTTGTGTGGATTTTTATGTGTCATAAGTTGATGTTTTTAATAATCTATACAATTTAACATCATATGCTCAGTTTTTGTAAACATATATACATTATAACTAGTTACCAAATTAATTTTATAAAGTCATATTTCCTCTAGGGCCCACTAACTAGTAAACATTGGAGCCAGAATTCTATCTCAGCAATGAGTAACTACAAAACTGGAGTGGGTTTTTTCCCTATACCATGCTTTCTTGTTAATGTTTGATATGTTAGGACTACAGAGGTTATATAAAAAATATAAACAAACATTGTGGTGTAACGTAAGAATAGCTACTGTTATTTATGTACTTAATTAGGATAAAATATATTTCTTTGGAAGAAACAAATGGGTGTTTGTTTTTATTACAGCTAGATTTAAATAGTTTTCTTTGAAATGTTGGTAAATGTATTTATTCAGGAACCTCAGGCACTATATGATGAAGTAAGAACTGTGCCAATTGCAAAGCTGGATAGGACAGTTGCTGAGAAAGCTGTTAAAAAATATGTAGAAGATGAAATGGCAAGGTAAGTCACACTTCAAGATGCATGACAAAAATAAGAAAAATTGGAAAGAATTGTGCTGTAAGTATTCTGAGTATGTCATTTACTCTGCTGTTAGGGCATTTGTAGTCTTAGATATTGTACCTATTGAGATGAACTTCTTGTTGAAAAAAATTAAGAGGTCTAGTTATACAAACAGAATTCTGCATTTGTTTTGTAGACAAAGAAGGAAATCTTATATATCTAAAGTGTCACTTTTATAGGCACTATGATTAACATGTTTTAAAAAAACTCAGTTTGGCCTACAACTAGGATATTACAATACCTGCTGAGAGGTAAAGATGAGTGTATTAGTTCGTTTTCACACTGCTATAAAGATACTACCTGAGACTGGGTAATTTATAAAGCAAGGAGGTTTAATTGACTCAGTCGTGCATGGCTGGGGAGGCCTCAGGAAACTTATAATCATGGCATAAGGCGAAGGGGAAGCAAGCCATGTCTTACATGGGCGGCAGAAGAGAGAGAGAGGGAAGGGGGAACTGTCAAACACTTTAAAAATCATCAGCTCTCGTGAGAACTCACTATCAAGAGAACAGCATGGGGGAAACCATTCCTGTGATCCAATCACCGCCCACCAGGTCCCTCCCTTGACACCTGGGGATTAGAATTCGAGATGAGATTCGGATGGGGACACAGAGCCAAACCTTATCAGTGAGTTATAAAGAAGAAGAAGGAAGTAGAAAGTGGCTTTTCTTCTTGTATAGCTAATGATGCAATCATTTTGATTCTTACTGAATTTTGATTCTTAGGGGTTATCCTGTCTTCTAAAGGTAATTTGTACTATAAACAAGTAGAAAAAAAAAATCAACAAAAATTTGACAGTTTCTGGCTTTTAATTCCAAAAGGTTTTTTTTTTTCTTCTTCTTTTTTTTCAGTAGCCACAGGAATGGTTAGGGAGGAAAAAAATTTTTAGATGATTAATCGTAAAGAATTCCAGATTTAACCTTTTAAAATATATCAGCAATAAATATTTAAGTTTCTAATAACTCGTATCTTTTTAATTAAGATCATAATTAACAAAGTTTGTGGAACATTAATATGCTGGTTTCATAACAGGCTCCCTGATAGATTGTCAGTAACTTGGCCTGAAGGAGATGAATTATTGCCTAATGAGGTTAGGCCTGCTGGAACCCCTATTGGTATGTTTGTTTATTTTTCTAATACCAAAAAGTGTGCTTTTCTTTTGTCTTACATTTCCAATATGTAAAAGGTCACGAGATATTAAAATGCAATGGGAAGATTTGGCAGATTCAGCAAATTTTTGGGTGTAATTAAGATACTTTTAATTTTTGACTCATAGGTGCGTTAAGAATTGAAATACTGAATAAAGGGAAGCAATGCAAAAGCTTCCAGGAACAAGCCATGGAGGGTCAAAGAAACTCCTGGTTGAGCTCAAAGTTATTTTACATTGTAAGTATACAAACTAATTTAGATCTTTAATATTGTTTTTAAAATATAATATCAAATTAAATATCTTCATGTAATTATTGATGACCTAGCAATCTGATAGGCATAGCAAATTTTATTGAAGTTAGGAATTTCAGGAATGTTATGAATAGCTCATTTTCTTGGTGGATATTTTTCTAAGGTTTTTAAAAAATACTTCATCTTGAATTTTTTCATGTGGGTAACTGGGCTAAAGTAAAGGCATGATACATATATGTAGAAGAATTTGCAGTAGGAATTTCTATAAGCATATATGTATTATTACAGTTCTAATAATTACAGTAATAATTACAGTATTGATTACAGTATTATTAGTCATCCAAAACAGGTTTCACTGAGCTAAAATTAAAGTGTCTTCAGGACTGCATTTCTTCCTGGAGGTTCTGGGTGAGCCTTGCCTTTTCTGCCTTTTAGAAGTTACTCTCAGCTGGGCTTGGTGGCACGAGCCTATATAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAAAATTGCTTGAGCCCAGGAGTTCGAGGCTACAGTGAGCTATGATCACGCCACTGCACTCCAGCCTGGGTGGTAAAGTAAGACCCTGTCTCTAAAAAATAAATAAATCACACAGAAGCACCACTCTCATTCCTTCATCTTCAAAGCCAGCAGTGCAGCACCTTTCATGACCTTCCTGCTTTTTTTTTTTTTGAGACAGAGCTTCGCTCTTGTTGCCCAGGCTGGAATACATAATGGCACAATTTAGGCTCACTGCAACCTCCGCTTCCCCTGTTCAAGCAATTCTCCTGTCTCAGCCTCCTGAGTAGCCGGGATTACAGGCACATGCCACCACTCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGATGGGGTTTCATCATATTGGTCAGGCTGGTCCCTGCTTCTATTTTCAATAACTTCATATATATATATATATATATATATATATATATATATATATAACATATTAACATGAAATTTATGAAGTGGCATTAAGTACATTCATATTGTTGTGCAACCATTACCACTATCCATGTAAAGCATTTTTTCATCATTTCAAACTGAAACTCTATAGTAATAACTCTTCATCACTCCTTTCTCCCTGCCCTGGTAACTACTTTTTAACTTTCTGTCTCTGAATTTGACTATTTTAGGTACCTCATAAAAATGGAATTATATTTGTCCTTTGTGTCTGGCCTGTTTCGCTTAGCATAGTGTGTCAGAATTCCCATTCCTTCTTAAGGTTGAATAATATTCCCTTGTGTGTGTATATATGTGTATATGTGTATATATATATATATATACACACACACATGTATACACATACACCATATTTTGTTTATCCATTTGTTTGATGGATACTCAGGTTACTTTCACCTGTTGTCTATCGTGAAGAATGCTCCTGTGAACATCAGTGTACAAATAGTTCTTTGAGTCTCCGCTTTGGTTCCTTTTAGATACATTCCCAAAAGTGGACTTGCTGGGTCATATTATTATTTAATTTATTGAGAAACTGCCGTACTGTTTTCCACAGTGGTTGCCTCATTGTACATTCCAGTTTCTCCATGTCACCCCCACTTGTTATTTCCTGTGGGTTTTTTTGTGGGGGACGGATAATAGCCATCCTAACAGATATGAAGTGGTATCTTACTGTGGTTTTTTCCCCCCTTTTTCCTACTAAAGATAATTGTGGTTTTGATTTGCATTTCCCCAATATTCAGTGATTTTGGCCATCTTTTTATGGGCTAATTGCCATCTGTATATCTTCTTTGGACAAAGGTCTATTCAGGTCCTTTGGCCATTTTTAAATTTTGTTGTTGAGTTGTAAGAGTTCTTTATAATCCTGGATATTAATCCCTTATCAGATAAATGATTTACAGATATTTTCTTCCACTCTGTGGGTTGCTTTTTCACTTTGTCAATGGTGACTGTGATGNNNN | pathogenic | 286,797 |
Is the chromosome 18, position 2724884 variant in SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CATATATAAATTGCTTCACTAAAGTTTATGTTTTGACTGGATTTATTGCTGAAGTTGTTAAGGTGTTTATGTCTTACTCTATGTTCTTTTGCAAGTATGATATAATGTCTCTTAACAATTCATTATTTGAAATACTTCATTCTGTGTCTTCTGTCATCACTGTTTTCTCTTTTAGCGTTCTTAGTTATTGGATGTTGGACCTTCTGGATTTAATCCCCAATTTTTAAAAAAATGTTCTCAATCTTTTTGTTTCTGTTTTACTTTCTGATAAATTTTCTCGACCTTATGATTACTACCTTTCCATTGAATTTTTCCTTTCTGCTAACATATTTTTAGTTGCTGTGAGTTCTTTCTGGTTCTCTGAAATTTTTTAAAGACCCTCTTGTTTTGTGAATGTAATACCGTTTTCACTGATAAAGCAAATGGTTAGGGTTTTTTTAAAAGCTTTCTTTTACCTCTACAGATACTCTGTTGTCTCTAGCTTAGTCAGTTGCTTGTTCTTGGTCTCTAGAGATATCTGGTTATTGGTCATCTGCTTGTAAATGAGTAGGAGACTGGAATGCAGGTGAAAGAGTGTGGAGAGGCTGTTGCCTGTGAGCTCCACTGTGGGATGATCTGTCTGGAGTACATTGTTGGGGGAAATCCTGTTGTCAGTATTTTTAGGTCTTGGGCTGGGCAGTTTCCTCAAAGAAGAATCTTCAGTCTTTTGCCTAGAGCAGGGAATAGTTTGGTTCCAAGTGAGTCAAAGAACAGGGCTGGGGTGGGAATTGGGGAGGAGAGGTCTCAGTATCCATATGCATTCGTTCCAGATAACCTCTTCTCTTCTTTTTAGTATTTCATTCTCATCCTCAGCTTATCTGCTGTCCCTGGTTCAGAGATCTTCTGTTTTAACCTTTTCAGAGATTCATCTTTCACTCATCTGCCAGAGGCAGAGAGGAGAGATCTGGAGATCTGAGATCTAAACTTTTCATCAGTCTTTTTGCTTGTTTGTTTAAACCTTTTCCTTTTGCCAATTCTGAACAGTACCTGGGCACTCGATGGTAGAGATTGGTTTCTAGCTTTTTCTATTTGTGTTTTACGATTCAGCTTTTTGGAGACTGCTATCATTTGCCACTTGCTGTCCTGTTTTCTAGCAGATAAGTTTGGTTGCCCTGTCTCTGCTTCCTTTCCGTTTTTTCTTTATGTTTTCCTTTAATAATAAAATACATCCCTTTACTGTCATATTAGTGGGATTTTAAGAGACAGTGAAAGTAGGTGTATATGTTTAATGTGCCATCTTTCCCAGGGGATTTATTTTATCTTGTATGCCACATTGCATCTTTTTTCAAATGAGCTTTACAGTTTATTCTGAAAATACCTGTAAACACTTAAATTCCATTCCTCAGAAAAATTAGGCTTTTCTCCATCATGGTATATTTTTTACTTTTTTTCCCTTTCTTTACCTTTCACAGAGTAAAATTTTGCCACTGCAAAGATCTACATCTGGTCAAATCTGATGAAATTAGCTTTGGAATCAGCTTTAGGAACCATATTACTCATGGAAGTAGATTAGGTGATGTCTTCGGTTTATGTCATCATAAGCCTGTCTGTTATTATTTGGACTTTATCTAAATTGCCATTCAGTTTAATAACAGATGCCCAGAATTCTCTAAAATCCCACTGGTGAAAGATTTGAAAGAATTCATGGTAAATGCTGAGGACATCCTTAAACCTGGCTTCTTTAGGTATTTATTTCCTTTCCTTAGGCTTGTATACATGGTCTAGCATTAGATTAGGTACTACATTGTATCTTTACTAATTCAATATGTGCTATTTTAATTTTACATTATATGTATTATATCATTTTCAGTGTTTAACCCATTGGTATCACTTATTAATACTTGTTGGATCAATTTTCTTTGTAAAAGAAATCCATTGGAATTTTTTTCTGTTTAGTTTTTTATATTTAAAAAATATTTTATTAGAAAACTAGACATGCCAATGTCACATAGGAAAGCAAAAACACATTTGCAGCTTACTTGTAGGCAATTGAGGGGAGTTAAAAAATAATTTTTTTTCCCCAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGGTAAGCATTATGTATAGATCCTATGATACTTGTTAAGTATTTATTTATCATATGGTAAGAATGAAATTGTAAATGAAAAGTGGAATGACCTATTTTTAAAAAACAGATGACAGTAATTGGGTTCTTAGGAATTTATCAGCATTATGCCACCTGACTTATCAGTTACATCTGTAAGAAAAGTTGGCACATTTACTACTGTTGTTGATTAAACATGAATTAAATATTTTTCACCTCTCCCCGTTATCTATACTTCAGTTTTTTCACATTCAAAGCCATTTTTTCGACATAGTTATCTAGGACTCTGCTGTTTTTTTTTTTTCTCTCTCCTACTGTTTCTGTCCACTTTTGAATATTTTTCTTAGAACAAAAATGACAATTAGAAATATGAGAAATTTCAGCTCACATCTTTAAACATATCACTTTGGTATTTAGATAAAAGGAAGTGTTTGGTGAGAGATACAGTTAAGGAAGGAATCCTATGCATAGTTTGTTGGTCTAAAAAAAACAGGGAAGCTAAAGATAGAAACTCTAATAAGGTAATTTTTCAGTTAGGTCTATAAAGCAGCTAATAGACTTAACTGACTAAAAGGAACACTGTAGCAAGTTTTTTTTCAGTGTATCATTACTTTAAATATTTAAAAATTTTCCCTATCCGTGTGATGTTTAAAACAGAGCATGTGTATTTTTTTCAAGTACTATATGCTGCTTTGTATAATCAAGTCAAAAATTGAGTTCTTGATTCTTTCTGAATTCAGATTTTTCTGGAAAAAGAACTTGAAATTCACAGAAAATTTGACTTTAGTAAGATAAACTTACTAAAAATTTCTAGATTTTAAAAACCTTTTTATTTTGAAATAACTTTAGAGGAAATTACTTACAAAGGAGTTCGAAGATAGTATAGAGAGGTTACATGTAGAAAGTTCCTCTGTTAATGTCTTACAGAGCTTTATATATTTATCCACACATTGACAAAATACTACTGACAAAACCGTGGACTTTTTTTTACTTGTCTCCAGTTAATTTATTTTTCTGTTCCATGAACCAATATGGAGTACCACATTGCATTTCAAAATTTTCTGGTTTTTGTTTCTTTCTACTTTACTATTTCATATGTTTTATAATATCTATCTTGATTATGATAATTATTCAGAGGTTATGCCTTTTGAGAATAAAAATTTAAGAGAAAAATTGATCCTAAAATGATATTCCTATTTTGGAAAAGTAGATTCTACCATAATTCTCTTCCTTTCACTGTCTATAAGGAAGCAGTATTGATCAGTTTTTTTCCTCTAAGATTTCTGACTCCATATATGATAATTTTAGTAAGTATAAAGTTGGTAAGTAATTTCTACAATGGTATGAAAATAAAACCAAAATATAAATCAGAATTGATGTGATAAACTACTTAAGTATGTATTCAGGACTGGGTTTAATTTTTACTGTTTTTTTCCAACAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTAATATTATTTCAAGAAATATAATTATTTAAAATAATTTTCTTATGTTAAAGTATAATGATATGAAGTTAGAGGTTTTTGGGCTTTTAGTAGTGGTGTAAATCTTGAAAATACACTTAAATGTCAAACCATAGCACTGACAGAAATGACCAGTTTTTAAAAAGGAAAACATTTAGGAAGATGTTATTGACATTCTGAATATAACCTTGGGAGAAAAATTTGGATATTGAAAATGTTTGGGGAACTGTTTCTTGGAATATGTCTATTAGGCTTTATTAGAGATGGGTCTGTTCTTTACATTTTGTTGATAAAACTGTTTCATATTTTAAGAAGAAAAACTTCTAATGTTATTTTTATTAAGTTAACTTGATAATGACTTAACCTGAGAAAATGAAGTTGCATTAAAG | CATATATAAATTGCTTCACTAAAGTTTATGTTTTGACTGGATTTATTGCTGAAGTTGTTAAGGTGTTTATGTCTTACTCTATGTTCTTTTGCAAGTATGATATAATGTCTCTTAACAATTCATTATTTGAAATACTTCATTCTGTGTCTTCTGTCATCACTGTTTTCTCTTTTAGCGTTCTTAGTTATTGGATGTTGGACCTTCTGGATTTAATCCCCAATTTTTAAAAAAATGTTCTCAATCTTTTTGTTTCTGTTTTACTTTCTGATAAATTTTCTCGACCTTATGATTACTACCTTTCCATTGAATTTTTCCTTTCTGCTAACATATTTTTAGTTGCTGTGAGTTCTTTCTGGTTCTCTGAAATTTTTTAAAGACCCTCTTGTTTTGTGAATGTAATACCGTTTTCACTGATAAAGCAAATGGTTAGGGTTTTTTTAAAAGCTTTCTTTTACCTCTACAGATACTCTGTTGTCTCTAGCTTAGTCAGTTGCTTGTTCTTGGTCTCTAGAGATATCTGGTTATTGGTCATCTGCTTGTAAATGAGTAGGAGACTGGAATGCAGGTGAAAGAGTGTGGAGAGGCTGTTGCCTGTGAGCTCCACTGTGGGATGATCTGTCTGGAGTACATTGTTGGGGGAAATCCTGTTGTCAGTATTTTTAGGTCTTGGGCTGGGCAGTTTCCTCAAAGAAGAATCTTCAGTCTTTTGCCTAGAGCAGGGAATAGTTTGGTTCCAAGTGAGTCAAAGAACAGGGCTGGGGTGGGAATTGGGGAGGAGAGGTCTCAGTATCCATATGCATTCGTTCCAGATAACCTCTTCTCTTCTTTTTAGTATTTCATTCTCATCCTCAGCTTATCTGCTGTCCCTGGTTCAGAGATCTTCTGTTTTAACCTTTTCAGAGATTCATCTTTCACTCATCTGCCAGAGGCAGAGAGGAGAGATCTGGAGATCTGAGATCTAAACTTTTCATCAGTCTTTTTGCTTGTTTGTTTAAACCTTTTCCTTTTGCCAATTCTGAACAGTACCTGGGCACTCGATGGTAGAGATTGGTTTCTAGCTTTTTCTATTTGTGTTTTACGATTCAGCTTTTTGGAGACTGCTATCATTTGCCACTTGCTGTCCTGTTTTCTAGCAGATAAGTTTGGTTGCCCTGTCTCTGCTTCCTTTCCGTTTTTTCTTTATGTTTTCCTTTAATAATAAAATACATCCCTTTACTGTCATATTAGTGGGATTTTAAGAGACAGTGAAAGTAGGTGTATATGTTTAATGTGCCATCTTTCCCAGGGGATTTATTTTATCTTGTATGCCACATTGCATCTTTTTTCAAATGAGCTTTACAGTTTATTCTGAAAATACCTGTAAACACTTAAATTCCATTCCTCAGAAAAATTAGGCTTTTCTCCATCATGGTATATTTTTTACTTTTTTTCCCTTTCTTTACCTTTCACAGAGTAAAATTTTGCCACTGCAAAGATCTACATCTGGTCAAATCTGATGAAATTAGCTTTGGAATCAGCTTTAGGAACCATATTACTCATGGAAGTAGATTAGGTGATGTCTTCGGTTTATGTCATCATAAGCCTGTCTGTTATTATTTGGACTTTATCTAAATTGCCATTCAGTTTAATAACAGATGCCCAGAATTCTCTAAAATCCCACTGGTGAAAGATTTGAAAGAATTCATGGTAAATGCTGAGGACATCCTTAAACCTGGCTTCTTTAGGTATTTATTTCCTTTCCTTAGGCTTGTATACATGGTCTAGCATTAGATTAGGTACTACATTGTATCTTTACTAATTCAATATGTGCTATTTTAATTTTACATTATATGTATTATATCATTTTCAGTGTTTAACCCATTGGTATCACTTATTAATACTTGTTGGATCAATTTTCTTTGTAAAAGAAATCCATTGGAATTTTTTTCTGTTTAGTTTTTTATATTTAAAAAATATTTTATTAGAAAACTAGACATGCCAATGTCACATAGGAAAGCAAAAACACATTTGCAGCTTACTTGTAGGCAATTGAGGGGAGTTAAAAAATAATTTTTTTCCCCAGTGGTTTATCTTTACATTATGAAGAAATAACCAAAGGACCAAATTGTGTAATTCGAGGTGTTACAGCCAAGGGCCCTGTAAACTCTTGTCAAGGCAAGGTAAGCATTATGTATAGATCCTATGATACTTGTTAAGTATTTATTTATCATATGGTAAGAATGAAATTGTAAATGAAAAGTGGAATGACCTATTTTTAAAAAACAGATGACAGTAATTGGGTTCTTAGGAATTTATCAGCATTATGCCACCTGACTTATCAGTTACATCTGTAAGAAAAGTTGGCACATTTACTACTGTTGTTGATTAAACATGAATTAAATATTTTTCACCTCTCCCCGTTATCTATACTTCAGTTTTTTCACATTCAAAGCCATTTTTTCGACATAGTTATCTAGGACTCTGCTGTTTTTTTTTTTTCTCTCTCCTACTGTTTCTGTCCACTTTTGAATATTTTTCTTAGAACAAAAATGACAATTAGAAATATGAGAAATTTCAGCTCACATCTTTAAACATATCACTTTGGTATTTAGATAAAAGGAAGTGTTTGGTGAGAGATACAGTTAAGGAAGGAATCCTATGCATAGTTTGTTGGTCTAAAAAAAACAGGGAAGCTAAAGATAGAAACTCTAATAAGGTAATTTTTCAGTTAGGTCTATAAAGCAGCTAATAGACTTAACTGACTAAAAGGAACACTGTAGCAAGTTTTTTTTCAGTGTATCATTACTTTAAATATTTAAAAATTTTCCCTATCCGTGTGATGTTTAAAACAGAGCATGTGTATTTTTTTCAAGTACTATATGCTGCTTTGTATAATCAAGTCAAAAATTGAGTTCTTGATTCTTTCTGAATTCAGATTTTTCTGGAAAAAGAACTTGAAATTCACAGAAAATTTGACTTTAGTAAGATAAACTTACTAAAAATTTCTAGATTTTAAAAACCTTTTTATTTTGAAATAACTTTAGAGGAAATTACTTACAAAGGAGTTCGAAGATAGTATAGAGAGGTTACATGTAGAAAGTTCCTCTGTTAATGTCTTACAGAGCTTTATATATTTATCCACACATTGACAAAATACTACTGACAAAACCGTGGACTTTTTTTTACTTGTCTCCAGTTAATTTATTTTTCTGTTCCATGAACCAATATGGAGTACCACATTGCATTTCAAAATTTTCTGGTTTTTGTTTCTTTCTACTTTACTATTTCATATGTTTTATAATATCTATCTTGATTATGATAATTATTCAGAGGTTATGCCTTTTGAGAATAAAAATTTAAGAGAAAAATTGATCCTAAAATGATATTCCTATTTTGGAAAAGTAGATTCTACCATAATTCTCTTCCTTTCACTGTCTATAAGGAAGCAGTATTGATCAGTTTTTTTCCTCTAAGATTTCTGACTCCATATATGATAATTTTAGTAAGTATAAAGTTGGTAAGTAATTTCTACAATGGTATGAAAATAAAACCAAAATATAAATCAGAATTGATGTGATAAACTACTTAAGTATGTATTCAGGACTGGGTTTAATTTTTACTGTTTTTTTCCAACAGAATTATAATCTGAAGGTTACTCTGCCTGGCTTAAAAGAAGACTCACAGATTTTGAAAATTAGATTACTACCTGGTAATATTATTTCAAGAAATATAATTATTTAAAATAATTTTCTTATGTTAAAGTATAATGATATGAAGTTAGAGGTTTTTGGGCTTTTAGTAGTGGTGTAAATCTTGAAAATACACTTAAATGTCAAACCATAGCACTGACAGAAATGACCAGTTTTTAAAAAGGAAAACATTTAGGAAGATGTTATTGACATTCTGAATATAACCTTGGGAGAAAAATTTGGATATTGAAAATGTTTGGGGAACTGTTTCTTGGAATATGTCTATTAGGCTTTATTAGAGATGGGTCTGTTCTTTACATTTTGTTGATAAAACTGTTTCATATTTTAAGAAGAAAAACTTCTAATGTTATTTTTATTAAGTTAACTTGATAATGACTTAACCTGAGAAAATGAAGTTGCATTAAAGN | benign | 286,803 |
Determine if the mutation at chromosome 18, position 2732488 in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2'] | GATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCTCAAATGGATACAAGATGTCTTTTACTTTTTAAATTAGAATGAGATGACTCTTCATTCCAGTTCTTTTTAAGCTTGTTATATTTGATAAGCTTAAAGTATTTTTTATGCATTTTCTTTATGCAATAATATGGGCAACATACTTTTGAGCACACTTTCTTGCAAAAGATGACTATGAATTAGGGAGGAATCTGGACTTGGAGGCAAGAGCAGCAGGCATTAGGACTTTTGTAAATACTACAGACCACTCAGGAGAAGACCAAGAATTCAGGTCAGTTAAAACAAATGCCAACGTAAATCCTCTAATAGGCAGTTACAAAATGTTATCCAATGGCAATAACTGAGTTTAGGAGTAAGGCAAGTAAGATACAACAGAAGATGGTTATGTGCCTGACATTCCATGAGGTAGGAATTTTTAATATCACTCACGTGGATAGGCTTCCATAAGTTAAATGGCTGCAACTGGATGAGGAAGGAGACATGAGTTAAGTAAGATTATAAAGGTATTTTATGTTTAAACTTATTTTAAATTTAGTGTGTGCTGTTGAATGGACTATAACTAGATTATGAAATAATGTAATATTTTAATTTTGTGTGCCTAAAATCAATTTATATAGCATAATCTTGGTCTTTTCTTTGATCTGTAGAACACTGGTATGCCAATAATAAATTGTAAATATGCCAATATGTTGACCAGTTGTCTTCAGGGCATCTAGAGGCCTTCTCTGGCTATAAACAACCTTGATCACTTACCCCAATGTGTTATGAATTGAAAAAATACTGAAAGCCTTAATGTAATCTGTTACCATTAAATAATGTATTTTATGGTAGCTGTTTGTCTCTGATTTTATGGAAAGTTCTTAATTTCTTACATCTTTGTTCTTATTCATAAATACTAACAGAGTATGTAACATAATTAAAATTTCACAAGATGGCAATACTTTTAAAGAAACTTGGAAATAAGAGGAAGGGACCGGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGACCGAGGCCAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCATCTCTGCTGAAAATACAAAAATTATCCATGCATGGTGGTAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGTTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCCCTCCAGCCTAGGAGGCAAAGTGAGACTCTGTCTCAAAAAAAATAAAAAGGAGGGGAATCCTTTTAGTCCACATACAATTGTTTTTATTTTAAGAATGTGGCCACTGCCATTTATAACCTGATGGTATAAAATACGGAATTATTAATAGTATAATGCCATCTTAATGACAAAACCTGTGAGTATAACAATGTATGAGATGGTCTTCCATAATATTGAAAGTAAATTCTTCAGGAGTGTAAAATTTCAGTACAGATATCACTCAGTGTTTGTGTTTTCTTCTCTTTCTAGAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTAAGTATCTCTAACAGATTGGTTATTTGTAAGAACTTTTTAAATTTTATGTTTGTAAGACTGAACAAGCCGTTTTATGGGTAGCATCTAAAAAAGAAGCTTGTCACAGAAAAGTTATACTATCATTTCAAATTGTAAGCAGAATAAGCTTTTTTCATGGAATAGGTTGAAATGCAAATGATTCATATGTGACAAAATTATACTTAGAAAAATGATTTTGACACTTAAAAATCTAGGTTTTGGCATTTTGTTTAGTTGTGCTCTTCCTGACTAGCTGTTTTTCTGCAATCATAATCAACATCACCACCTTGATAAAGCTAGCAATAAATTGGTAGCAGTTCTGAAAGCACTAAACAAAAGATCTGTTAAAGGCAAGCAGTGAAACAGTGTTGTTAACTACAGAGCCTCTATTTGGCCATTGGAAATTATTGAAATTGGTATACCACTCTAAAAATATGATCCTTAGAAAAGAGTTTTGTTGGTCCTCATCAACCTGCTGTCATCTAAATATGACATTTGTACCTTGATAGGGTTGAGTCTGCATGTTGAAACTTAACACCTCACTGAACAGGGAGCCAAATCAAAATGTTAAGTCTTATTACATAAAGTAGACAGCTTTTTAGCATTCCTTTGATGGTTGACTGAAAGAATAGTGGACAGTCTATGCTTGCTTCTTTCAAAGTTCAGTTTGTTCTTCTATAATGAGACACATGCATTCTCCAGAATCACTCTGCTGTGCAAAATTGTACAATAAAAAATCACAGGGCTTATGAGGGAAAATGGAAACTAGAGGCACAATACTCAAACTTTCTCAGTAACCCGTTAAGAGAACCTAATAAAATAGTGGCAAAAACAATAATGATAATACATGTTAAATGTTAAGAAATACATAAATACTATAATAATATGGGAGGTTACCTAGCTTGATGAAGCAATGATTGCAGCTTTTGAGTTCCTGTGAAGTGGTGGAAGGAAGGTTATCTGAAAGTGAGGGGAAAGTTGTTTTAACAGTCTGTGGATGAGCGTGGCTCATTAACACATAGTCAACTGAGGTGACTGATAGGTGTTTGAGGTGCAACATTTGTTGTGTTCCCACTTGGTTCAGCTGGGTACAGTTTTCTATGTTGACCTAGTTTTTTCATAGATGAAATTGTACCTAAGCAAAAGTAAAATTTGCCTTATGCTTAAATTGTTTACTGATAGTTGTATTGGAACAAATTTGCATTTTCAAAGTAAACGTAATTGTACTGGAACAAATTTACATTTTCAAAGTAAGCATTGTAACAGAACTTACTGTACTTTTTTCCCTTGATGTCTATGGAGATAAAATTCCCAAGTGTGGAAAAATAATTTATCAAAATTCCAGGCTTTTGAGGTAGTTAGAAATAAGCATTCCTCCATGTCTGGAGAGCTGACATTCATAGACTCTTAGTACGGAGTCCCAATTAGCCAAATTTTTGGAGAGTTAACATGTTTGGCACTATGTAGGAGTTGCTCTTCCATACCGGTATACACCATACCCATCTTGTGTTTCCAAACATAAGATCTGGTAATTCAAAAGGATTATTTAGCCACGGGTTCAACTGACCTGAGTTTTAAAATCTTATTTGGAACAATGCTTGTTCTAGCCAGCTTTTTTTCCCCTTCATAATGAGGGAAGAGAGAATTGAGATAGAAATAATTCTGATTCTGCTTGGAAAGGAGGTAAGCCATTTTTATCTCTATAAGCAGATTTGAAGGTAAGTAGTGGTTTAATAGTGGTGCCAGGGATGTGGCTTCTGAACTATTTCCTTGCTTTCTCACAATCATGCTTCCATTTCCTCCTCTCTTAAGAAGTTTAAGAAAAACCGACTGGAGAGCCTCTCCCTATCATACCTTCTCTAAGGTTGTTGCCTGCATTTGACACATTTTGCCTCTAATTTGGTAATTATGTATGTCTGTGCACTTCTTCATTGACAGTAAAAGATAGTGAGTACTCCATTTTACTTAAGTTGAATGTACAGCCTTTACAGTGGTTTTGTAGTGTTGAGAGAATTAAGCCAA | GATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCTCAAATGGATACAAGATGTCTTTTACTTTTTAAATTAGAATGAGATGACTCTTCATTCCAGTTCTTTTTAAGCTTGTTATATTTGATAAGCTTAAAGTATTTTTTATGCATTTTCTTTATGCAATAATATGGGCAACATACTTTTGAGCACACTTTCTTGCAAAAGATGACTATGAATTAGGGAGGAATCTGGACTTGGAGGCAAGAGCAGCAGGCATTAGGACTTTTGTAAATACTACAGACCACTCAGGAGAAGACCAAGAATTCAGGTCAGTTAAAACAAATGCCAACGTAAATCCTCTAATAGGCAGTTACAAAATGTTATCCAATGGCAATAACTGAGTTTAGGAGTAAGGCAAGTAAGATACAACAGAAGATGGTTATGTGCCTGACATTCCATGAGGTAGGAATTTTTAATATCACTCACGTGGATAGGCTTCCATAAGTTAAATGGCTGCAACTGGATGAGGAAGGAGACATGAGTTAAGTAAGATTATAAAGGTATTTTATGTTTAAACTTATTTTAAATTTAGTGTGTGCTGTTGAATGGACTATAACTAGATTATGAAATAATGTAATATTTTAATTTTGTGTGCCTAAAATCAATTTATATAGCATAATCTTGGTCTTTTCTTTGATCTGTAGAACACTGGTATGCCAATAATAAATTGTAAATATGCCAATATGTTGACCAGTTGTCTTCAGGGCATCTAGAGGCCTTCTCTGGCTATAAACAACCTTGATCACTTACCCCAATGTGTTATGAATTGAAAAAATACTGAAAGCCTTAATGTAATCTGTTACCATTAAATAATGTATTTTATGGTAGCTGTTTGTCTCTGATTTTATGGAAAGTTCTTAATTTCTTACATCTTTGTTCTTATTCATAAATACTAACAGAGTATGTAACATAATTAAAATTTCACAAGATGGCAATACTTTTAAAGAAACTTGGAAATAAGAGGAAGGGACCGGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGACCGAGGCCAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCATCTCTGCTGAAAATACAAAAATTATCCATGCATGGTGGTAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGTTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCCCTCCAGCCTAGGAGGCAAAGTGAGACTCTGTCTCAAAAAAAATAAAAAGGAGGGGAATCCTTTTAGTCCACATACAATTGTTTTTATTTTAAGAATGTGGCCACTGCCATTTATAACCTGATGGTATAAAATACGGAATTATTAATAGTATAATGCCATCTTAATGACAAAACCTGTGAGTATAACAATGTATGAGATGGTCTTCCATAATATTGAAAGTAAATTCTTCAGGAGTGTAAAATTTCAGTACAGATATCACTCAGTGTTTGTGTTTTCTTCTCTTTCTAGAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAGTATCTCTAACAGATTGGTTATTTGTAAGAACTTTTTAAATTTTATGTTTGTAAGACTGAACAAGCCGTTTTATGGGTAGCATCTAAAAAAGAAGCTTGTCACAGAAAAGTTATACTATCATTTCAAATTGTAAGCAGAATAAGCTTTTTTCATGGAATAGGTTGAAATGCAAATGATTCATATGTGACAAAATTATACTTAGAAAAATGATTTTGACACTTAAAAATCTAGGTTTTGGCATTTTGTTTAGTTGTGCTCTTCCTGACTAGCTGTTTTTCTGCAATCATAATCAACATCACCACCTTGATAAAGCTAGCAATAAATTGGTAGCAGTTCTGAAAGCACTAAACAAAAGATCTGTTAAAGGCAAGCAGTGAAACAGTGTTGTTAACTACAGAGCCTCTATTTGGCCATTGGAAATTATTGAAATTGGTATACCACTCTAAAAATATGATCCTTAGAAAAGAGTTTTGTTGGTCCTCATCAACCTGCTGTCATCTAAATATGACATTTGTACCTTGATAGGGTTGAGTCTGCATGTTGAAACTTAACACCTCACTGAACAGGGAGCCAAATCAAAATGTTAAGTCTTATTACATAAAGTAGACAGCTTTTTAGCATTCCTTTGATGGTTGACTGAAAGAATAGTGGACAGTCTATGCTTGCTTCTTTCAAAGTTCAGTTTGTTCTTCTATAATGAGACACATGCATTCTCCAGAATCACTCTGCTGTGCAAAATTGTACAATAAAAAATCACAGGGCTTATGAGGGAAAATGGAAACTAGAGGCACAATACTCAAACTTTCTCAGTAACCCGTTAAGAGAACCTAATAAAATAGTGGCAAAAACAATAATGATAATACATGTTAAATGTTAAGAAATACATAAATACTATAATAATATGGGAGGTTACCTAGCTTGATGAAGCAATGATTGCAGCTTTTGAGTTCCTGTGAAGTGGTGGAAGGAAGGTTATCTGAAAGTGAGGGGAAAGTTGTTTTAACAGTCTGTGGATGAGCGTGGCTCATTAACACATAGTCAACTGAGGTGACTGATAGGTGTTTGAGGTGCAACATTTGTTGTGTTCCCACTTGGTTCAGCTGGGTACAGTTTTCTATGTTGACCTAGTTTTTTCATAGATGAAATTGTACCTAAGCAAAAGTAAAATTTGCCTTATGCTTAAATTGTTTACTGATAGTTGTATTGGAACAAATTTGCATTTTCAAAGTAAACGTAATTGTACTGGAACAAATTTACATTTTCAAAGTAAGCATTGTAACAGAACTTACTGTACTTTTTTCCCTTGATGTCTATGGAGATAAAATTCCCAAGTGTGGAAAAATAATTTATCAAAATTCCAGGCTTTTGAGGTAGTTAGAAATAAGCATTCCTCCATGTCTGGAGAGCTGACATTCATAGACTCTTAGTACGGAGTCCCAATTAGCCAAATTTTTGGAGAGTTAACATGTTTGGCACTATGTAGGAGTTGCTCTTCCATACCGGTATACACCATACCCATCTTGTGTTTCCAAACATAAGATCTGGTAATTCAAAAGGATTATTTAGCCACGGGTTCAACTGACCTGAGTTTTAAAATCTTATTTGGAACAATGCTTGTTCTAGCCAGCTTTTTTTCCCCTTCATAATGAGGGAAGAGAGAATTGAGATAGAAATAATTCTGATTCTGCTTGGAAAGGAGGTAAGCCATTTTTATCTCTATAAGCAGATTTGAAGGTAAGTAGTGGTTTAATAGTGGTGCCAGGGATGTGGCTTCTGAACTATTTCCTTGCTTTCTCACAATCATGCTTCCATTTCCTCCTCTCTTAAGAAGTTTAAGAAAAACCGACTGGAGAGCCTCTCCCTATCATACCTTCTCTAAGGTTGTTGCCTGCATTTGACACATTTTGCCTCTAATTTGGTAATTATGTATGTCTGTGCACTTCTTCATTGACAGTAAAAGATAGTGAGTACTCCATTTTACTTAAGTTGAATGTACAGCCTTTACAGTGGTTTTGTAGTGTTGAGAGAATTAAGCCAANNNNN | pathogenic | 286,817 |
A genetic alteration at chromosome 18, position 2732489, in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2', 'Inborn_genetic_diseases'] | ATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCTCAAATGGATACAAGATGTCTTTTACTTTTTAAATTAGAATGAGATGACTCTTCATTCCAGTTCTTTTTAAGCTTGTTATATTTGATAAGCTTAAAGTATTTTTTATGCATTTTCTTTATGCAATAATATGGGCAACATACTTTTGAGCACACTTTCTTGCAAAAGATGACTATGAATTAGGGAGGAATCTGGACTTGGAGGCAAGAGCAGCAGGCATTAGGACTTTTGTAAATACTACAGACCACTCAGGAGAAGACCAAGAATTCAGGTCAGTTAAAACAAATGCCAACGTAAATCCTCTAATAGGCAGTTACAAAATGTTATCCAATGGCAATAACTGAGTTTAGGAGTAAGGCAAGTAAGATACAACAGAAGATGGTTATGTGCCTGACATTCCATGAGGTAGGAATTTTTAATATCACTCACGTGGATAGGCTTCCATAAGTTAAATGGCTGCAACTGGATGAGGAAGGAGACATGAGTTAAGTAAGATTATAAAGGTATTTTATGTTTAAACTTATTTTAAATTTAGTGTGTGCTGTTGAATGGACTATAACTAGATTATGAAATAATGTAATATTTTAATTTTGTGTGCCTAAAATCAATTTATATAGCATAATCTTGGTCTTTTCTTTGATCTGTAGAACACTGGTATGCCAATAATAAATTGTAAATATGCCAATATGTTGACCAGTTGTCTTCAGGGCATCTAGAGGCCTTCTCTGGCTATAAACAACCTTGATCACTTACCCCAATGTGTTATGAATTGAAAAAATACTGAAAGCCTTAATGTAATCTGTTACCATTAAATAATGTATTTTATGGTAGCTGTTTGTCTCTGATTTTATGGAAAGTTCTTAATTTCTTACATCTTTGTTCTTATTCATAAATACTAACAGAGTATGTAACATAATTAAAATTTCACAAGATGGCAATACTTTTAAAGAAACTTGGAAATAAGAGGAAGGGACCGGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGACCGAGGCCAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCATCTCTGCTGAAAATACAAAAATTATCCATGCATGGTGGTAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGTTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCCCTCCAGCCTAGGAGGCAAAGTGAGACTCTGTCTCAAAAAAAATAAAAAGGAGGGGAATCCTTTTAGTCCACATACAATTGTTTTTATTTTAAGAATGTGGCCACTGCCATTTATAACCTGATGGTATAAAATACGGAATTATTAATAGTATAATGCCATCTTAATGACAAAACCTGTGAGTATAACAATGTATGAGATGGTCTTCCATAATATTGAAAGTAAATTCTTCAGGAGTGTAAAATTTCAGTACAGATATCACTCAGTGTTTGTGTTTTCTTCTCTTTCTAGAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTAAGTATCTCTAACAGATTGGTTATTTGTAAGAACTTTTTAAATTTTATGTTTGTAAGACTGAACAAGCCGTTTTATGGGTAGCATCTAAAAAAGAAGCTTGTCACAGAAAAGTTATACTATCATTTCAAATTGTAAGCAGAATAAGCTTTTTTCATGGAATAGGTTGAAATGCAAATGATTCATATGTGACAAAATTATACTTAGAAAAATGATTTTGACACTTAAAAATCTAGGTTTTGGCATTTTGTTTAGTTGTGCTCTTCCTGACTAGCTGTTTTTCTGCAATCATAATCAACATCACCACCTTGATAAAGCTAGCAATAAATTGGTAGCAGTTCTGAAAGCACTAAACAAAAGATCTGTTAAAGGCAAGCAGTGAAACAGTGTTGTTAACTACAGAGCCTCTATTTGGCCATTGGAAATTATTGAAATTGGTATACCACTCTAAAAATATGATCCTTAGAAAAGAGTTTTGTTGGTCCTCATCAACCTGCTGTCATCTAAATATGACATTTGTACCTTGATAGGGTTGAGTCTGCATGTTGAAACTTAACACCTCACTGAACAGGGAGCCAAATCAAAATGTTAAGTCTTATTACATAAAGTAGACAGCTTTTTAGCATTCCTTTGATGGTTGACTGAAAGAATAGTGGACAGTCTATGCTTGCTTCTTTCAAAGTTCAGTTTGTTCTTCTATAATGAGACACATGCATTCTCCAGAATCACTCTGCTGTGCAAAATTGTACAATAAAAAATCACAGGGCTTATGAGGGAAAATGGAAACTAGAGGCACAATACTCAAACTTTCTCAGTAACCCGTTAAGAGAACCTAATAAAATAGTGGCAAAAACAATAATGATAATACATGTTAAATGTTAAGAAATACATAAATACTATAATAATATGGGAGGTTACCTAGCTTGATGAAGCAATGATTGCAGCTTTTGAGTTCCTGTGAAGTGGTGGAAGGAAGGTTATCTGAAAGTGAGGGGAAAGTTGTTTTAACAGTCTGTGGATGAGCGTGGCTCATTAACACATAGTCAACTGAGGTGACTGATAGGTGTTTGAGGTGCAACATTTGTTGTGTTCCCACTTGGTTCAGCTGGGTACAGTTTTCTATGTTGACCTAGTTTTTTCATAGATGAAATTGTACCTAAGCAAAAGTAAAATTTGCCTTATGCTTAAATTGTTTACTGATAGTTGTATTGGAACAAATTTGCATTTTCAAAGTAAACGTAATTGTACTGGAACAAATTTACATTTTCAAAGTAAGCATTGTAACAGAACTTACTGTACTTTTTTCCCTTGATGTCTATGGAGATAAAATTCCCAAGTGTGGAAAAATAATTTATCAAAATTCCAGGCTTTTGAGGTAGTTAGAAATAAGCATTCCTCCATGTCTGGAGAGCTGACATTCATAGACTCTTAGTACGGAGTCCCAATTAGCCAAATTTTTGGAGAGTTAACATGTTTGGCACTATGTAGGAGTTGCTCTTCCATACCGGTATACACCATACCCATCTTGTGTTTCCAAACATAAGATCTGGTAATTCAAAAGGATTATTTAGCCACGGGTTCAACTGACCTGAGTTTTAAAATCTTATTTGGAACAATGCTTGTTCTAGCCAGCTTTTTTTCCCCTTCATAATGAGGGAAGAGAGAATTGAGATAGAAATAATTCTGATTCTGCTTGGAAAGGAGGTAAGCCATTTTTATCTCTATAAGCAGATTTGAAGGTAAGTAGTGGTTTAATAGTGGTGCCAGGGATGTGGCTTCTGAACTATTTCCTTGCTTTCTCACAATCATGCTTCCATTTCCTCCTCTCTTAAGAAGTTTAAGAAAAACCGACTGGAGAGCCTCTCCCTATCATACCTTCTCTAAGGTTGTTGCCTGCATTTGACACATTTTGCCTCTAATTTGGTAATTATGTATGTCTGTGCACTTCTTCATTGACAGTAAAAGATAGTGAGTACTCCATTTTACTTAAGTTGAATGTACAGCCTTTACAGTGGTTTTGTAGTGTTGAGAGAATTAAGCCAAG | ATTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCTCAAATGGATACAAGATGTCTTTTACTTTTTAAATTAGAATGAGATGACTCTTCATTCCAGTTCTTTTTAAGCTTGTTATATTTGATAAGCTTAAAGTATTTTTTATGCATTTTCTTTATGCAATAATATGGGCAACATACTTTTGAGCACACTTTCTTGCAAAAGATGACTATGAATTAGGGAGGAATCTGGACTTGGAGGCAAGAGCAGCAGGCATTAGGACTTTTGTAAATACTACAGACCACTCAGGAGAAGACCAAGAATTCAGGTCAGTTAAAACAAATGCCAACGTAAATCCTCTAATAGGCAGTTACAAAATGTTATCCAATGGCAATAACTGAGTTTAGGAGTAAGGCAAGTAAGATACAACAGAAGATGGTTATGTGCCTGACATTCCATGAGGTAGGAATTTTTAATATCACTCACGTGGATAGGCTTCCATAAGTTAAATGGCTGCAACTGGATGAGGAAGGAGACATGAGTTAAGTAAGATTATAAAGGTATTTTATGTTTAAACTTATTTTAAATTTAGTGTGTGCTGTTGAATGGACTATAACTAGATTATGAAATAATGTAATATTTTAATTTTGTGTGCCTAAAATCAATTTATATAGCATAATCTTGGTCTTTTCTTTGATCTGTAGAACACTGGTATGCCAATAATAAATTGTAAATATGCCAATATGTTGACCAGTTGTCTTCAGGGCATCTAGAGGCCTTCTCTGGCTATAAACAACCTTGATCACTTACCCCAATGTGTTATGAATTGAAAAAATACTGAAAGCCTTAATGTAATCTGTTACCATTAAATAATGTATTTTATGGTAGCTGTTTGTCTCTGATTTTATGGAAAGTTCTTAATTTCTTACATCTTTGTTCTTATTCATAAATACTAACAGAGTATGTAACATAATTAAAATTTCACAAGATGGCAATACTTTTAAAGAAACTTGGAAATAAGAGGAAGGGACCGGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGACCGAGGCCAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCATCTCTGCTGAAAATACAAAAATTATCCATGCATGGTGGTAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGTTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCCCTCCAGCCTAGGAGGCAAAGTGAGACTCTGTCTCAAAAAAAATAAAAAGGAGGGGAATCCTTTTAGTCCACATACAATTGTTTTTATTTTAAGAATGTGGCCACTGCCATTTATAACCTGATGGTATAAAATACGGAATTATTAATAGTATAATGCCATCTTAATGACAAAACCTGTGAGTATAACAATGTATGAGATGGTCTTCCATAATATTGAAAGTAAATTCTTCAGGAGTGTAAAATTTCAGTACAGATATCACTCAGTGTTTGTGTTTTCTTCTCTTTCTAGAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTTAAGTATCTCTAACAGATTGGTTATTTGTAAGAACTTTTTAAATTTTATGTTTGTAAGACTGAACAAGCCGTTTTATGGGTAGCATCTAAAAAAGAAGCTTGTCACAGAAAAGTTATACTATCATTTCAAATTGTAAGCAGAATAAGCTTTTTTCATGGAATAGGTTGAAATGCAAATGATTCATATGTGACAAAATTATACTTAGAAAAATGATTTTGACACTTAAAAATCTAGGTTTTGGCATTTTGTTTAGTTGTGCTCTTCCTGACTAGCTGTTTTTCTGCAATCATAATCAACATCACCACCTTGATAAAGCTAGCAATAAATTGGTAGCAGTTCTGAAAGCACTAAACAAAAGATCTGTTAAAGGCAAGCAGTGAAACAGTGTTGTTAACTACAGAGCCTCTATTTGGCCATTGGAAATTATTGAAATTGGTATACCACTCTAAAAATATGATCCTTAGAAAAGAGTTTTGTTGGTCCTCATCAACCTGCTGTCATCTAAATATGACATTTGTACCTTGATAGGGTTGAGTCTGCATGTTGAAACTTAACACCTCACTGAACAGGGAGCCAAATCAAAATGTTAAGTCTTATTACATAAAGTAGACAGCTTTTTAGCATTCCTTTGATGGTTGACTGAAAGAATAGTGGACAGTCTATGCTTGCTTCTTTCAAAGTTCAGTTTGTTCTTCTATAATGAGACACATGCATTCTCCAGAATCACTCTGCTGTGCAAAATTGTACAATAAAAAATCACAGGGCTTATGAGGGAAAATGGAAACTAGAGGCACAATACTCAAACTTTCTCAGTAACCCGTTAAGAGAACCTAATAAAATAGTGGCAAAAACAATAATGATAATACATGTTAAATGTTAAGAAATACATAAATACTATAATAATATGGGAGGTTACCTAGCTTGATGAAGCAATGATTGCAGCTTTTGAGTTCCTGTGAAGTGGTGGAAGGAAGGTTATCTGAAAGTGAGGGGAAAGTTGTTTTAACAGTCTGTGGATGAGCGTGGCTCATTAACACATAGTCAACTGAGGTGACTGATAGGTGTTTGAGGTGCAACATTTGTTGTGTTCCCACTTGGTTCAGCTGGGTACAGTTTTCTATGTTGACCTAGTTTTTTCATAGATGAAATTGTACCTAAGCAAAAGTAAAATTTGCCTTATGCTTAAATTGTTTACTGATAGTTGTATTGGAACAAATTTGCATTTTCAAAGTAAACGTAATTGTACTGGAACAAATTTACATTTTCAAAGTAAGCATTGTAACAGAACTTACTGTACTTTTTTCCCTTGATGTCTATGGAGATAAAATTCCCAAGTGTGGAAAAATAATTTATCAAAATTCCAGGCTTTTGAGGTAGTTAGAAATAAGCATTCCTCCATGTCTGGAGAGCTGACATTCATAGACTCTTAGTACGGAGTCCCAATTAGCCAAATTTTTGGAGAGTTAACATGTTTGGCACTATGTAGGAGTTGCTCTTCCATACCGGTATACACCATACCCATCTTGTGTTTCCAAACATAAGATCTGGTAATTCAAAAGGATTATTTAGCCACGGGTTCAACTGACCTGAGTTTTAAAATCTTATTTGGAACAATGCTTGTTCTAGCCAGCTTTTTTTCCCCTTCATAATGAGGGAAGAGAGAATTGAGATAGAAATAATTCTGATTCTGCTTGGAAAGGAGGTAAGCCATTTTTATCTCTATAAGCAGATTTGAAGGTAAGTAGTGGTTTAATAGTGGTGCCAGGGATGTGGCTTCTGAACTATTTCCTTGCTTTCTCACAATCATGCTTCCATTTCCTCCTCTCTTAAGAAGTTTAAGAAAAACCGACTGGAGAGCCTCTCCCTATCATACCTTCTCTAAGGTTGTTGCCTGCATTTGACACATTTTGCCTCTAATTTGGTAATTATGTATGTCTGTGCACTTCTTCATTGACAGTAAAAGATAGTGAGTACTCCATTTTACTTAAGTTGAATGTACAGCCTTTACAGTGGTTTTGTAGTGTTGAGAGAATTAAGCCAAGNNNN | pathogenic | 286,818 |
Determine whether the variant at chromosome 18, position 2732490, in gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Facioscapulohumeral_muscular_dystrophy_2'] | TTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCTCAAATGGATACAAGATGTCTTTTACTTTTTAAATTAGAATGAGATGACTCTTCATTCCAGTTCTTTTTAAGCTTGTTATATTTGATAAGCTTAAAGTATTTTTTATGCATTTTCTTTATGCAATAATATGGGCAACATACTTTTGAGCACACTTTCTTGCAAAAGATGACTATGAATTAGGGAGGAATCTGGACTTGGAGGCAAGAGCAGCAGGCATTAGGACTTTTGTAAATACTACAGACCACTCAGGAGAAGACCAAGAATTCAGGTCAGTTAAAACAAATGCCAACGTAAATCCTCTAATAGGCAGTTACAAAATGTTATCCAATGGCAATAACTGAGTTTAGGAGTAAGGCAAGTAAGATACAACAGAAGATGGTTATGTGCCTGACATTCCATGAGGTAGGAATTTTTAATATCACTCACGTGGATAGGCTTCCATAAGTTAAATGGCTGCAACTGGATGAGGAAGGAGACATGAGTTAAGTAAGATTATAAAGGTATTTTATGTTTAAACTTATTTTAAATTTAGTGTGTGCTGTTGAATGGACTATAACTAGATTATGAAATAATGTAATATTTTAATTTTGTGTGCCTAAAATCAATTTATATAGCATAATCTTGGTCTTTTCTTTGATCTGTAGAACACTGGTATGCCAATAATAAATTGTAAATATGCCAATATGTTGACCAGTTGTCTTCAGGGCATCTAGAGGCCTTCTCTGGCTATAAACAACCTTGATCACTTACCCCAATGTGTTATGAATTGAAAAAATACTGAAAGCCTTAATGTAATCTGTTACCATTAAATAATGTATTTTATGGTAGCTGTTTGTCTCTGATTTTATGGAAAGTTCTTAATTTCTTACATCTTTGTTCTTATTCATAAATACTAACAGAGTATGTAACATAATTAAAATTTCACAAGATGGCAATACTTTTAAAGAAACTTGGAAATAAGAGGAAGGGACCGGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGACCGAGGCCAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCATCTCTGCTGAAAATACAAAAATTATCCATGCATGGTGGTAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGTTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCCCTCCAGCCTAGGAGGCAAAGTGAGACTCTGTCTCAAAAAAAATAAAAAGGAGGGGAATCCTTTTAGTCCACATACAATTGTTTTTATTTTAAGAATGTGGCCACTGCCATTTATAACCTGATGGTATAAAATACGGAATTATTAATAGTATAATGCCATCTTAATGACAAAACCTGTGAGTATAACAATGTATGAGATGGTCTTCCATAATATTGAAAGTAAATTCTTCAGGAGTGTAAAATTTCAGTACAGATATCACTCAGTGTTTGTGTTTTCTTCTCTTTCTAGAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTAAGTATCTCTAACAGATTGGTTATTTGTAAGAACTTTTTAAATTTTATGTTTGTAAGACTGAACAAGCCGTTTTATGGGTAGCATCTAAAAAAGAAGCTTGTCACAGAAAAGTTATACTATCATTTCAAATTGTAAGCAGAATAAGCTTTTTTCATGGAATAGGTTGAAATGCAAATGATTCATATGTGACAAAATTATACTTAGAAAAATGATTTTGACACTTAAAAATCTAGGTTTTGGCATTTTGTTTAGTTGTGCTCTTCCTGACTAGCTGTTTTTCTGCAATCATAATCAACATCACCACCTTGATAAAGCTAGCAATAAATTGGTAGCAGTTCTGAAAGCACTAAACAAAAGATCTGTTAAAGGCAAGCAGTGAAACAGTGTTGTTAACTACAGAGCCTCTATTTGGCCATTGGAAATTATTGAAATTGGTATACCACTCTAAAAATATGATCCTTAGAAAAGAGTTTTGTTGGTCCTCATCAACCTGCTGTCATCTAAATATGACATTTGTACCTTGATAGGGTTGAGTCTGCATGTTGAAACTTAACACCTCACTGAACAGGGAGCCAAATCAAAATGTTAAGTCTTATTACATAAAGTAGACAGCTTTTTAGCATTCCTTTGATGGTTGACTGAAAGAATAGTGGACAGTCTATGCTTGCTTCTTTCAAAGTTCAGTTTGTTCTTCTATAATGAGACACATGCATTCTCCAGAATCACTCTGCTGTGCAAAATTGTACAATAAAAAATCACAGGGCTTATGAGGGAAAATGGAAACTAGAGGCACAATACTCAAACTTTCTCAGTAACCCGTTAAGAGAACCTAATAAAATAGTGGCAAAAACAATAATGATAATACATGTTAAATGTTAAGAAATACATAAATACTATAATAATATGGGAGGTTACCTAGCTTGATGAAGCAATGATTGCAGCTTTTGAGTTCCTGTGAAGTGGTGGAAGGAAGGTTATCTGAAAGTGAGGGGAAAGTTGTTTTAACAGTCTGTGGATGAGCGTGGCTCATTAACACATAGTCAACTGAGGTGACTGATAGGTGTTTGAGGTGCAACATTTGTTGTGTTCCCACTTGGTTCAGCTGGGTACAGTTTTCTATGTTGACCTAGTTTTTTCATAGATGAAATTGTACCTAAGCAAAAGTAAAATTTGCCTTATGCTTAAATTGTTTACTGATAGTTGTATTGGAACAAATTTGCATTTTCAAAGTAAACGTAATTGTACTGGAACAAATTTACATTTTCAAAGTAAGCATTGTAACAGAACTTACTGTACTTTTTTCCCTTGATGTCTATGGAGATAAAATTCCCAAGTGTGGAAAAATAATTTATCAAAATTCCAGGCTTTTGAGGTAGTTAGAAATAAGCATTCCTCCATGTCTGGAGAGCTGACATTCATAGACTCTTAGTACGGAGTCCCAATTAGCCAAATTTTTGGAGAGTTAACATGTTTGGCACTATGTAGGAGTTGCTCTTCCATACCGGTATACACCATACCCATCTTGTGTTTCCAAACATAAGATCTGGTAATTCAAAAGGATTATTTAGCCACGGGTTCAACTGACCTGAGTTTTAAAATCTTATTTGGAACAATGCTTGTTCTAGCCAGCTTTTTTTCCCCTTCATAATGAGGGAAGAGAGAATTGAGATAGAAATAATTCTGATTCTGCTTGGAAAGGAGGTAAGCCATTTTTATCTCTATAAGCAGATTTGAAGGTAAGTAGTGGTTTAATAGTGGTGCCAGGGATGTGGCTTCTGAACTATTTCCTTGCTTTCTCACAATCATGCTTCCATTTCCTCCTCTCTTAAGAAGTTTAAGAAAAACCGACTGGAGAGCCTCTCCCTATCATACCTTCTCTAAGGTTGTTGCCTGCATTTGACACATTTTGCCTCTAATTTGGTAATTATGTATGTCTGTGCACTTCTTCATTGACAGTAAAAGATAGTGAGTACTCCATTTTACTTAAGTTGAATGTACAGCCTTTACAGTGGTTTTGTAGTGTTGAGAGAATTAAGCCAAGA | TTACAGGCGTGAGCCACCGTGCCTGGCCCACAAAGGGATTTCTATATCATGTGCCAGTAGGATGCTTTTTATTGGTGATTCATCGTGGCTGATAGCAAAGCCAACATGGAGGCAAGAGCTGTAAACAATCTAAGGTTGTGGAGTGGGATAACAAATACTTAAGTAAAACTTCAAAGGTTGCTGAGTAGGGTAACAGATACTTAAGTAAAATACTTAAATGTGATTTCTTAGTAATTGATATGGTGATAGATAATCTAATTGGTTGATTAACTCATACTTTCCTACTAATTATACATCAGTTATTAACATAGCTTGAACCTCAAATGGATACAAGATGTCTTTTACTTTTTAAATTAGAATGAGATGACTCTTCATTCCAGTTCTTTTTAAGCTTGTTATATTTGATAAGCTTAAAGTATTTTTTATGCATTTTCTTTATGCAATAATATGGGCAACATACTTTTGAGCACACTTTCTTGCAAAAGATGACTATGAATTAGGGAGGAATCTGGACTTGGAGGCAAGAGCAGCAGGCATTAGGACTTTTGTAAATACTACAGACCACTCAGGAGAAGACCAAGAATTCAGGTCAGTTAAAACAAATGCCAACGTAAATCCTCTAATAGGCAGTTACAAAATGTTATCCAATGGCAATAACTGAGTTTAGGAGTAAGGCAAGTAAGATACAACAGAAGATGGTTATGTGCCTGACATTCCATGAGGTAGGAATTTTTAATATCACTCACGTGGATAGGCTTCCATAAGTTAAATGGCTGCAACTGGATGAGGAAGGAGACATGAGTTAAGTAAGATTATAAAGGTATTTTATGTTTAAACTTATTTTAAATTTAGTGTGTGCTGTTGAATGGACTATAACTAGATTATGAAATAATGTAATATTTTAATTTTGTGTGCCTAAAATCAATTTATATAGCATAATCTTGGTCTTTTCTTTGATCTGTAGAACACTGGTATGCCAATAATAAATTGTAAATATGCCAATATGTTGACCAGTTGTCTTCAGGGCATCTAGAGGCCTTCTCTGGCTATAAACAACCTTGATCACTTACCCCAATGTGTTATGAATTGAAAAAATACTGAAAGCCTTAATGTAATCTGTTACCATTAAATAATGTATTTTATGGTAGCTGTTTGTCTCTGATTTTATGGAAAGTTCTTAATTTCTTACATCTTTGTTCTTATTCATAAATACTAACAGAGTATGTAACATAATTAAAATTTCACAAGATGGCAATACTTTTAAAGAAACTTGGAAATAAGAGGAAGGGACCGGGCGCAGTGGCTGATGCCTGTAATCCCAGCACTTTGGAAGACCGAGGCCAGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCATCTCTGCTGAAAATACAAAAATTATCCATGCATGGTGGTAGGCGCCTGTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAGTAGTTTGAACCCAGAAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCCCTCCAGCCTAGGAGGCAAAGTGAGACTCTGTCTCAAAAAAAATAAAAAGGAGGGGAATCCTTTTAGTCCACATACAATTGTTTTTATTTTAAGAATGTGGCCACTGCCATTTATAACCTGATGGTATAAAATACGGAATTATTAATAGTATAATGCCATCTTAATGACAAAACCTGTGAGTATAACAATGTATGAGATGGTCTTCCATAATATTGAAAGTAAATTCTTCAGGAGTGTAAAATTTCAGTACAGATATCACTCAGTGTTTGTGTTTTCTTCTCTTTCTAGAGTTGTAAAGATGTGGCACCTGTGGAGAAGACTATTAAGTTGCTTCCCAGTAGCCATGTTGCAAGACTACAAATATTCAGTGTAGAAGGACAAAAGGCAATTCAGATCAAACATCAGGATGAGGTTAATTGGATAGCGGGTGATATTATGCATAATCTTATTTTTCAAATGTATGATGAAGGAGAAAGAGAAATCAATATAACATCAGCTTTAGCAGAAAAAATTAAAGTATCTCTAACAGATTGGTTATTTGTAAGAACTTTTTAAATTTTATGTTTGTAAGACTGAACAAGCCGTTTTATGGGTAGCATCTAAAAAAGAAGCTTGTCACAGAAAAGTTATACTATCATTTCAAATTGTAAGCAGAATAAGCTTTTTTCATGGAATAGGTTGAAATGCAAATGATTCATATGTGACAAAATTATACTTAGAAAAATGATTTTGACACTTAAAAATCTAGGTTTTGGCATTTTGTTTAGTTGTGCTCTTCCTGACTAGCTGTTTTTCTGCAATCATAATCAACATCACCACCTTGATAAAGCTAGCAATAAATTGGTAGCAGTTCTGAAAGCACTAAACAAAAGATCTGTTAAAGGCAAGCAGTGAAACAGTGTTGTTAACTACAGAGCCTCTATTTGGCCATTGGAAATTATTGAAATTGGTATACCACTCTAAAAATATGATCCTTAGAAAAGAGTTTTGTTGGTCCTCATCAACCTGCTGTCATCTAAATATGACATTTGTACCTTGATAGGGTTGAGTCTGCATGTTGAAACTTAACACCTCACTGAACAGGGAGCCAAATCAAAATGTTAAGTCTTATTACATAAAGTAGACAGCTTTTTAGCATTCCTTTGATGGTTGACTGAAAGAATAGTGGACAGTCTATGCTTGCTTCTTTCAAAGTTCAGTTTGTTCTTCTATAATGAGACACATGCATTCTCCAGAATCACTCTGCTGTGCAAAATTGTACAATAAAAAATCACAGGGCTTATGAGGGAAAATGGAAACTAGAGGCACAATACTCAAACTTTCTCAGTAACCCGTTAAGAGAACCTAATAAAATAGTGGCAAAAACAATAATGATAATACATGTTAAATGTTAAGAAATACATAAATACTATAATAATATGGGAGGTTACCTAGCTTGATGAAGCAATGATTGCAGCTTTTGAGTTCCTGTGAAGTGGTGGAAGGAAGGTTATCTGAAAGTGAGGGGAAAGTTGTTTTAACAGTCTGTGGATGAGCGTGGCTCATTAACACATAGTCAACTGAGGTGACTGATAGGTGTTTGAGGTGCAACATTTGTTGTGTTCCCACTTGGTTCAGCTGGGTACAGTTTTCTATGTTGACCTAGTTTTTTCATAGATGAAATTGTACCTAAGCAAAAGTAAAATTTGCCTTATGCTTAAATTGTTTACTGATAGTTGTATTGGAACAAATTTGCATTTTCAAAGTAAACGTAATTGTACTGGAACAAATTTACATTTTCAAAGTAAGCATTGTAACAGAACTTACTGTACTTTTTTCCCTTGATGTCTATGGAGATAAAATTCCCAAGTGTGGAAAAATAATTTATCAAAATTCCAGGCTTTTGAGGTAGTTAGAAATAAGCATTCCTCCATGTCTGGAGAGCTGACATTCATAGACTCTTAGTACGGAGTCCCAATTAGCCAAATTTTTGGAGAGTTAACATGTTTGGCACTATGTAGGAGTTGCTCTTCCATACCGGTATACACCATACCCATCTTGTGTTTCCAAACATAAGATCTGGTAATTCAAAAGGATTATTTAGCCACGGGTTCAACTGACCTGAGTTTTAAAATCTTATTTGGAACAATGCTTGTTCTAGCCAGCTTTTTTTCCCCTTCATAATGAGGGAAGAGAGAATTGAGATAGAAATAATTCTGATTCTGCTTGGAAAGGAGGTAAGCCATTTTTATCTCTATAAGCAGATTTGAAGGTAAGTAGTGGTTTAATAGTGGTGCCAGGGATGTGGCTTCTGAACTATTTCCTTGCTTTCTCACAATCATGCTTCCATTTCCTCCTCTCTTAAGAAGTTTAAGAAAAACCGACTGGAGAGCCTCTCCCTATCATACCTTCTCTAAGGTTGTTGCCTGCATTTGACACATTTTGCCTCTAATTTGGTAATTATGTATGTCTGTGCACTTCTTCATTGACAGTAAAAGATAGTGAGTACTCCATTTTACTTAAGTTGAATGTACAGCCTTTACAGTGGTTTTGTAGTGTTGAGAGAATTAAGCCAAGANNNN | pathogenic | 286,819 |
Is the genetic mutation found on chromosome 18 at position 2738354, within the gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAGAAGAAAACCTAGGAAATAGCCATTCTGGATGTCGGCCCTGGCAAAGAATTTATGACCAAGTCCCCAAAAGCAGTTACAACACAAACAAAAATTGACAAGTGGGACCTAATCAAACTAAACAGCTGCACAGCAAAAGAAACTACCAACAGTGTAAACAGACAGCCTACAGAATGGTAAAAAATATTAACAAGCTATATATTCTAAAAAGGTCTAATAACCAGAATCTATAAGGAACTTTAACAAGCAAAAAACAACCCCATTTAAAAAATGGGCAAAGGATATGAATAGATAACTTGTTAAGAGAAGACATACATGTGGTCAGCAAATATGTGAAAAAATGTTCAACATCATAATCATAATCATGGAGAAATGCAAGTCAAAAGCAAAGAGATACCATCTCACACCAGTCAGAATGTCTATATTTAAAACATCAAAAAATAACAGATGTTGGCAAGATTTTGGAGAAAAGGGAACACTTATGCACTGTCGGTTGGACTGTAAATTAGTTCAGCCACTGTGGAGAGCAGTTTGGAGATTTCTCAACCTTAAATAGAACTATCGTTTGAACCAGCAATACCATTACTGTATATATACCCAAAGGAAAATAATACCATTTCACCAAATATACGTGCAGTTTTCTGTTTATCTCAGCACTATTCACAACAGCAAAGACATAGGTGCCTGTCGGTAGTAGATTGGATAAAGAAAATACACCACAGAATACTACACAGCCATAAAAAAGAACAAAATCATGTCCTTTGCAGCAACATGGATGCAGCTGGAGGCCATTATCCTAAGTGAATTAATGCAGGAACAGGAACCCAAATACTGAATGGTCTCACTTAAAAGTGGGAGCTAAACATTAAATACACATGGACATAAAAATATAGGAAAAGTAGTCACTGGAGATTCCAAAAAAGGGGAGGGTAATAGAGGAGCAGGGGTTGAAAAACTACCTGTTGGGTACTATGCTCATTACCTGGGTGATGAGATAACTCATAGACCAAATCTCAGTGACATGCAATTTATCCATGTAACAAACTTGTATACGTACCTACTGAACCTAAAAGTAGAGGAAAAATAAAGTGTAATTTAGAAATTTTTTTTAAAAAGACTATTAGTGATTTTAAGGCCAGATGTGGTGGCTCACACATGTAATCCCAGCACTTTGAAAGGCTGAGGTGGGAGGATTGCTGGAGGCCAGGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACCACATCTCAACAAAAAATTAGGCAGACCTGGGGTGCATGCCTGTAATCTCAGCTACTCATGAGACTGGGGCAGGAGCATTGCTTGAGCCCAGGAATTGGAGGCTCCAGTGAGCTATGATCATTGCACTCCAACCTGGGCTACAGAGTGAGACCTTGTCTATAAAAACCAAAAATAAAAATAGAATATGAGTGATTTTAAAATCACAACTATAGAAGGCTAAATAAAAGTAGAGAGAAAGTTGAGGTCAGAATTCTTAAATAGAAAGTATTGGGAGTTTAAAAGTAAGTACAGAGTAGAGCAAACAACTTGAAAAAGTATGGATTAAGTGACAAAATATGGAATGTAAGAGGTATAAATTAATACAGAACTAAAAACACCTAAGAAGAGATTAAGGCCAAAGTATGGCCAGAAAGTTAGATCAAACTTCTTTTTTCTCACCTTGCTAAGAATAACGTCCACCTAGATCTCATTGAAAGCTTTCCCATAAATAGGATTCTTTTCAAAAAATAATTGAATATTGCTTTTCAGAATTAATCACATGATCTGATTTATATGTTACTTTTAAACGATAATGGCCACAGTGATACTTTTGTGGCAGAGCTCTAAAGAAATGACTTAAGAATTTTTATTTTATCTCACTAAAAAAATAGGGCAATATTAACAACAAAGACAAAGAGGATGCCTTTGTATCATATTAGTATATGAACCACACCGTTTCTGACCATAAAGAGACTTTTTTCTTGGGGGTGAAGAAGACGGATTATAATGTAGTTTTAAGAGTAAGATAAGTGGCAGTAAGAGAACATTAGACGAAGCTTTATTATTGTTAAATATCTCTTTTTCTCCTAGGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGGTTTGTGGACTCATTATATTTTGCAGCCTATGGCAACAAAATACTGTCCTCCATTGCACATATATGAAAGTTGTTTTTAATGTAAAAATATTACGGTTTCTATGAAATATAATAGATTGTCTTTGGAATAAAGTGTCATTGGTGATAGCGATTAATTTTTGTTATCACTGTAATCTTGCACTGAATTGGCCTTCTAGTAGCTGGAACCTTCATTAAAGGAAAGTTTAGTGCCAGTAACAGTGAAAACACCTGCAAAATGACAAAGACGTGAAAAATACAAAAGATACAGTGTGATCAGTCAGTGTTGTTCAGAAGGAAAAATCCTTTCATTGCTTAGTGAGAATTTTTAAAGCTGAGAGTCCAACCAGAGTTAATATGTAGAACTCATATTGAAGGGACAGAATTAAGTGAATGTGTAAAAAAAACCTTTACACTGGCCTATCAATTTCTTGGCCACCTCTTTTCCAATAACCTCTTGCACTTTAATTCCTCTACCCATTTCTATACTTTACCCAACACTTAGGATAGTTCTGTTTTTGAGATAGAATTTTCAAATGTACTGCATTCTGACCGTAATGAGATCTCTCAATGAGTTGTTAACTCATCTGTTTTCTTGTCATAATTTCCTTTTAATCCAGCATAAATACTGTGACTTAACATGTCTGTAAGTTTTTGGTCCATATTCTCTACTATCTTTGCAAAGTGTCTTTTTCCTATTTTCTTTTGGATTAATAGCAGATTATATAAATTAAACAGTTATTTGAAGGAGTGTTATTGTATTTGAGTTATTGGATATGAACATTATATATGTGTTATTCTGTAGCATGTTGGAACTACTTCAATTAATGGTGTCACTAAAGACTTCTAACTTGTTAAACAATTTCAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGGTTAGTATGGCTTGCTTTAAAAAACAAACAACAAAAAAATCTTCTGTGATGTTTCCTTCCATGGATGTTTTAGATACCTAATCTGAAAGGAAAGCTTTTGGGTTCATATAATGTTACTGATATAAAATCTATTGTCAGATAAGATTGAAGTATTTTCATTATCTTTGCCCAGGCTGACATAGCTTTAAAATCAGTTTGACAAACACATTTTGTCGAAAAAAAATCTTGTCTTTTGTTAGAAGTAATATTACTAGTTAGAAGTTAATAATAAAAGTATAAAGTAAGCTTGGCATGGTACACATGCCTGTAGTCCCAGTTACCCAGGAGGCTGAGGCGAGGGGATTGCCTGAGCCAAGGGGTTTGAGGCCAGCCTGGACAAAATAGTGATACTGTACTCCTAAAAAAATTCTTTTTTTTTTTTTTAACATTATACTTTAAGTTCTGGGGTACATGTGCAGAACGTGCAGGTTTGTTACATAGGTATACACGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTACATTAGGTATTTCTCTTAAATGCTGTCCCTCCCCTAGCCCCGACTCCCCGACAGGCCCTGGTGTGTAATGTTCCCCTCCCTGGGTCCATGTGTTCTCATTGTTCAACTCGCACTTAAGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTTCTGTGTTAGTTTGTTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCTACTCTATCACTGATGGGCATTTGGGTTAAAAAATTCTTTTTTAAACATAAAAGTATAACATACATGTATGAATGGATT | TAGAAGAAAACCTAGGAAATAGCCATTCTGGATGTCGGCCCTGGCAAAGAATTTATGACCAAGTCCCCAAAAGCAGTTACAACACAAACAAAAATTGACAAGTGGGACCTAATCAAACTAAACAGCTGCACAGCAAAAGAAACTACCAACAGTGTAAACAGACAGCCTACAGAATGGTAAAAAATATTAACAAGCTATATATTCTAAAAAGGTCTAATAACCAGAATCTATAAGGAACTTTAACAAGCAAAAAACAACCCCATTTAAAAAATGGGCAAAGGATATGAATAGATAACTTGTTAAGAGAAGACATACATGTGGTCAGCAAATATGTGAAAAAATGTTCAACATCATAATCATAATCATGGAGAAATGCAAGTCAAAAGCAAAGAGATACCATCTCACACCAGTCAGAATGTCTATATTTAAAACATCAAAAAATAACAGATGTTGGCAAGATTTTGGAGAAAAGGGAACACTTATGCACTGTCGGTTGGACTGTAAATTAGTTCAGCCACTGTGGAGAGCAGTTTGGAGATTTCTCAACCTTAAATAGAACTATCGTTTGAACCAGCAATACCATTACTGTATATATACCCAAAGGAAAATAATACCATTTCACCAAATATACGTGCAGTTTTCTGTTTATCTCAGCACTATTCACAACAGCAAAGACATAGGTGCCTGTCGGTAGTAGATTGGATAAAGAAAATACACCACAGAATACTACACAGCCATAAAAAAGAACAAAATCATGTCCTTTGCAGCAACATGGATGCAGCTGGAGGCCATTATCCTAAGTGAATTAATGCAGGAACAGGAACCCAAATACTGAATGGTCTCACTTAAAAGTGGGAGCTAAACATTAAATACACATGGACATAAAAATATAGGAAAAGTAGTCACTGGAGATTCCAAAAAAGGGGAGGGTAATAGAGGAGCAGGGGTTGAAAAACTACCTGTTGGGTACTATGCTCATTACCTGGGTGATGAGATAACTCATAGACCAAATCTCAGTGACATGCAATTTATCCATGTAACAAACTTGTATACGTACCTACTGAACCTAAAAGTAGAGGAAAAATAAAGTGTAATTTAGAAATTTTTTTTAAAAAGACTATTAGTGATTTTAAGGCCAGATGTGGTGGCTCACACATGTAATCCCAGCACTTTGAAAGGCTGAGGTGGGAGGATTGCTGGAGGCCAGGAGTTTAAGACCAGCCTGGGCAACATAGTGAGACCACATCTCAACAAAAAATTAGGCAGACCTGGGGTGCATGCCTGTAATCTCAGCTACTCATGAGACTGGGGCAGGAGCATTGCTTGAGCCCAGGAATTGGAGGCTCCAGTGAGCTATGATCATTGCACTCCAACCTGGGCTACAGAGTGAGACCTTGTCTATAAAAACCAAAAATAAAAATAGAATATGAGTGATTTTAAAATCACAACTATAGAAGGCTAAATAAAAGTAGAGAGAAAGTTGAGGTCAGAATTCTTAAATAGAAAGTATTGGGAGTTTAAAAGTAAGTACAGAGTAGAGCAAACAACTTGAAAAAGTATGGATTAAGTGACAAAATATGGAATGTAAGAGGTATAAATTAATACAGAACTAAAAACACCTAAGAAGAGATTAAGGCCAAAGTATGGCCAGAAAGTTAGATCAAACTTCTTTTTTCTCACCTTGCTAAGAATAACGTCCACCTAGATCTCATTGAAAGCTTTCCCATAAATAGGATTCTTTTCAAAAAATAATTGAATATTGCTTTTCAGAATTAATCACATGATCTGATTTATATGTTACTTTTAAACGATAATGGCCACAGTGATACTTTTGTGGCAGAGCTCTAAAGAAATGACTTAAGAATTTTTATTTTATCTCACTAAAAAAATAGGGCAATATTAACAACAAAGACAAAGAGGATGCCTTTGTATCATATTAGTATATGAACCACACCGTTTCTGACCATAAAGAGACTTTTTTCTTGGGGGTGAAGAAGACGGATTATAATGTAGTTTTAAGAGTAAGATAAGTGGCAGTAAGAGAACATTAGACAGACGAAGCTTTATTATTGTTAAATATCTCTTTTTCTCCTAGGTTAATTGGACTCCTGAGATTAACAAAGAACACTTGCTACAGGGTCTGCTTCCTGATGTGCAAGTACCAACATCTGTAAAAGATATGCGCTATTGCCAGGTTTCATTCCAAGATGATCATGTGTCTTTGGAAAGTGCGTTTACAGTAAGGTTTGTGGACTCATTATATTTTGCAGCCTATGGCAACAAAATACTGTCCTCCATTGCACATATATGAAAGTTGTTTTTAATGTAAAAATATTACGGTTTCTATGAAATATAATAGATTGTCTTTGGAATAAAGTGTCATTGGTGATAGCGATTAATTTTTGTTATCACTGTAATCTTGCACTGAATTGGCCTTCTAGTAGCTGGAACCTTCATTAAAGGAAAGTTTAGTGCCAGTAACAGTGAAAACACCTGCAAAATGACAAAGACGTGAAAAATACAAAAGATACAGTGTGATCAGTCAGTGTTGTTCAGAAGGAAAAATCCTTTCATTGCTTAGTGAGAATTTTTAAAGCTGAGAGTCCAACCAGAGTTAATATGTAGAACTCATATTGAAGGGACAGAATTAAGTGAATGTGTAAAAAAAACCTTTACACTGGCCTATCAATTTCTTGGCCACCTCTTTTCCAATAACCTCTTGCACTTTAATTCCTCTACCCATTTCTATACTTTACCCAACACTTAGGATAGTTCTGTTTTTGAGATAGAATTTTCAAATGTACTGCATTCTGACCGTAATGAGATCTCTCAATGAGTTGTTAACTCATCTGTTTTCTTGTCATAATTTCCTTTTAATCCAGCATAAATACTGTGACTTAACATGTCTGTAAGTTTTTGGTCCATATTCTCTACTATCTTTGCAAAGTGTCTTTTTCCTATTTTCTTTTGGATTAATAGCAGATTATATAAATTAAACAGTTATTTGAAGGAGTGTTATTGTATTTGAGTTATTGGATATGAACATTATATATGTGTTATTCTGTAGCATGTTGGAACTACTTCAATTAATGGTGTCACTAAAGACTTCTAACTTGTTAAACAATTTCAGACCACTTCCTGATGAACCTAAACATTTAAAATGTGAAATGAAAGGAGGAAAAACAGTACAGATGGGCCAAGAGCTTCAAGGAGAAGTAGGTTAGTATGGCTTGCTTTAAAAAACAAACAACAAAAAAATCTTCTGTGATGTTTCCTTCCATGGATGTTTTAGATACCTAATCTGAAAGGAAAGCTTTTGGGTTCATATAATGTTACTGATATAAAATCTATTGTCAGATAAGATTGAAGTATTTTCATTATCTTTGCCCAGGCTGACATAGCTTTAAAATCAGTTTGACAAACACATTTTGTCGAAAAAAAATCTTGTCTTTTGTTAGAAGTAATATTACTAGTTAGAAGTTAATAATAAAAGTATAAAGTAAGCTTGGCATGGTACACATGCCTGTAGTCCCAGTTACCCAGGAGGCTGAGGCGAGGGGATTGCCTGAGCCAAGGGGTTTGAGGCCAGCCTGGACAAAATAGTGATACTGTACTCCTAAAAAAATTCTTTTTTTTTTTTTTAACATTATACTTTAAGTTCTGGGGTACATGTGCAGAACGTGCAGGTTTGTTACATAGGTATACACGTGCCATGGTGGTTTGCTGCACCCATCAACCCGTCATCTACATTAGGTATTTCTCTTAAATGCTGTCCCTCCCCTAGCCCCGACTCCCCGACAGGCCCTGGTGTGTAATGTTCCCCTCCCTGGGTCCATGTGTTCTCATTGTTCAACTCGCACTTAAGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTTCTGTGTTAGTTTGTTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCTACTCTATCACTGATGGGCATTTGGGTTAAAAAATTCTTTTTTAAACATAAAAGTATAACATACATGTATGAATG | benign | 286,820 |
Variant at chromosome 18, position 2769706, gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | TGGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAACAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCCACCACACCCAGCTGATTTTTGTTTTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTTGTCTCGAACTCTGACCTCAGACGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTAGGCATGAGCCACCACACCCAGCAGCATAACCTGTTTCTCCTAGGCTACAAACCTGTACAGTATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTGTATCTAAACATAGAAAAGGTATAGTAAAATACAGTATTATAATCTTTTGGGACCACCATTGTACATGTGGTCCTTTGTTAGTGAATTGTTATGTGGTGCATGACTGTATGTTAGATACATATAATTAAAGGACTGATATATTGAACAGATTTCTAAAACCTCCTAAGGAACTACTTGCAAATCAATTAAAAAAAAAAGACAAACCGGTAGAAAAATAAATGGGCAAAGAATATGAGCAGGCAATTAATGGAAAAGAAAATATAAATAACCTGTAAACATAAGAAGCATGATTTCAGTACCACTCAGGGAGATGTTAGTTAAAATAATAATGACTGGTTGCTTTTTAATTCCCCTTTTTAGAAAAAAATATGATTGATATTAAATGTTGGCCAGCATAAGGGGAATTGGGCACTCCCATATACTGCTGGTGAGAGGATAAATTGATACAGCTTCTTATAAGGGAAATTTGATACTTACCTTTTAAAATAAACTTATACTTCTCATTATTCATCCCAGAAAACACATTTGCAGAGAAACATTTGGAGATATATTTTTGCTATGTTATAGATAATTGTTTAAAAATTGTAAACATACTAAATATTTGCCACCCAATGAATGAGTAGTATAGTATAGTGTACTATATACTATACTACTAGTATATATAGTATACAGTATATAGTATAGTATATAGTGTACTATATACTATACTACTAGTATAGTACTATATACTATACTATACATAAATTTTAAATTGGCATCTATACATTCACATGAATTGATCAAATCGAGTGCTGAAAGCAAGTTGCTAAAGTATATGTTACTTATTTTTAAAATGCAAATAGTATTTTTTAAATACATGTTTGCATTTATGTAAGTCTGTTGAAAACCACATTCAGAAACTGATTGGCAGTTGGTTTAATGGTGGGCTTGTATTCTATATTCTTTGGGAAAAAGTCTGTGAGCTGTAATTTATAATTTTATTTCATGGATTGACCTACAGTGCCATATCGATTTAGATTTTTTAAAAATACTACTTCTCTGTAAATTGTATTGTTATAGTCTAAACAAAAACAGCTACTATCGTTTCCCTTAGAACTGTGTGAAAAAATCATTTCAGATAAAAATATATTTGTGTCATTTACTAGTTATATGTTTTGGTCTTAAAGTATATCAAAAGGTTTTTTATCCATTAATGAGAAAGACACAATTTAAAAAATCTTTAGAGCTTTTCAAAATCTCTTGTTCTGTCACCTGGGACTTTGATGGGTCTATTTCCATGTTAACAGCTGTAACTTAAACTCAGCATTGGGCTTTGTGATTGTTTTTATAACTTTCACACTATCAGCTCTTTCATGCTGCTTTCAATTTAGAGGTTAGAATCAAGAAGATTTTACAGGTCAAAATTTTAAGTGGCCATCTCTAATGTGAAGGAAATAACTTTTTCTTGAAATTTTTTATCATATATACTTTTCACATAAGCTGTTTATTGATACGATCATTTGGCTTTCAAACCAATACCAGAAGGTAAAAAGTTGTATGTCTTGGGTAGTGGTGGTGGTGATAATGGTTTAATGGAATCTTAAGGATCAGCCTATGCCTTTGGCCTTTAAAATTAACCACTTACTTGAAAACAGCATAATGAGTTATGTAACATTTATATGTTGTAAATTTTCTTTTTAAATCTTGTTTTCCCCTATTGTTTGTTTATATGTACAGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGGTAAGTTTCTAGGAAATAAATGGTTAAACTCCGTTGTTAGTGATACTTTAGATAACCTTGTTTTGCTTTCCATTAACTTGGTGTTTATTAGCTATCTAACCACTTTATGACATATTTTAGAAAAGTCAGTTTTTAAATTATTTAAATTATCTCAATTTTTTTTCTTAGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTAAGTCATTTTGTATTCAAGACAAAAATTATGCTTTGGGGAATGATGAGGCAGGTGAGATCGTGATACACAAACAAGCTTCCACTTTCCTAAATTACAAGTAAAATACAGAATGTTTCAGAAAGGTGGTAATGATGGTTGATACTGTCATTGAGAATTCTTAAGATGAAGTATTTCTTATTTTAAATAAATTTGTATCCTGCTTAAAAGAAATCAACACGTTCTGTTAGGAATCTGGACCTGTGGAAAATTTAAGGCTTTCTACATAATAATAATGTTTATATTTAGCTCTAGCTTCTGGCAAAAGATACTGGATAATAATATCACCAAGGGAGTGATGTGTAATGTAATTTTTCATTTGGGTAATGAGCTGTTTGTATTTTACTTCAAACATCTGCAGTTTGTCATACTATGGAGGTATCTGGGGCAGCACACACTGATACTGAAATATGTAAATTATTCTTGAGTCAATTCACAGAAAGTTTGCTGCAGTTTTGTTTTGTTTAGTTTTGTTTTCTGTTTTTTGTTTTTTTTTGAGACACAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCACTCACTGCACCCTCTGCCTCCCAAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACATGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCGAACTTCTTACCTCAAGTGATCTGCCCACCTTGGCCCCCACAAAGTGCTAGGATTACAGGTGTTAGCCACCACACCCAGCCTACGTTTGCTGCAATTCTTAATAATGTTTCATATAATTGAAAGACAAGACATTTTCTGAGTTGTGCTCTATCATCTCTTCCCTTTTCATTTGTCATATTTTTTTGCTAAGGTTTTTGGCCTTGTGTTATTTTGATCAAGTTAACCAAGAAATATTTACCGCTTGCCTCAAAGTACTCACTTTTGTGTATGCCTGCACAAGATCAAGGATATTTAGAATATAATAGGAGCTAAATCTAGTAGTGAGATAATGTCATTTGTGTAGCACTAAAAATTGTTTTTATAAAGTCTTTGAGAACAGCCTTGTGCAATTATGTATAAATTATGTATACTCGTGGATTAAGATTAAGTAACTTATCCAAGATTACTAGGAGTTTGCAGTATATCATATCTCCCTTTAGTTGCATTAATTTTGTTTTCTCATTTTTGTATATCAGAATTGAGCCTTAAGATGTATAGTTTAATTTTGAATTTCTGAAATGGTCACCTATCAGTTTTCATTTTAGCAACAGACATTAAAAGGAAAAAACAAAAGGAACTTTAAAATATTTTTCAAAAACTATGATTTGGGGGCTATCAGAAATTGATGCAAATTTTTGGTTTTTTATTTTAGGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTACAGCTTCCAACTATACGTGAAAGATTTTTTATTAAAGTCTATTCTACAATTTTCTCAATTATTCAGTTTTTATTAGGAATTCTGAGTATTGTTGTTTTAGGGTACAAAGACGTGCATTATCGTCACTAGACA | TGGCTCAGTGCAACCTCCGCCTCCTGGGTTCAAACAATCCTCCCACCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGTGCCCACCACACCCAGCTGATTTTTGTTTTTTCAGTAGAGACAGGGTTTCACCATGTTGGCCAGGTTTGTCTCGAACTCTGACCTCAGACGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTGTAGGCATGAGCCACCACACCCAGCAGCATAACCTGTTTCTCCTAGGCTACAAACCTGTACAGTATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTGTATCTAAACATAGAAAAGGTATAGTAAAATACAGTATTATAATCTTTTGGGACCACCATTGTACATGTGGTCCTTTGTTAGTGAATTGTTATGTGGTGCATGACTGTATGTTAGATACATATAATTAAAGGACTGATATATTGAACAGATTTCTAAAACCTCCTAAGGAACTACTTGCAAATCAATTAAAAAAAAAAGACAAACCGGTAGAAAAATAAATGGGCAAAGAATATGAGCAGGCAATTAATGGAAAAGAAAATATAAATAACCTGTAAACATAAGAAGCATGATTTCAGTACCACTCAGGGAGATGTTAGTTAAAATAATAATGACTGGTTGCTTTTTAATTCCCCTTTTTAGAAAAAAATATGATTGATATTAAATGTTGGCCAGCATAAGGGGAATTGGGCACTCCCATATACTGCTGGTGAGAGGATAAATTGATACAGCTTCTTATAAGGGAAATTTGATACTTACCTTTTAAAATAAACTTATACTTCTCATTATTCATCCCAGAAAACACATTTGCAGAGAAACATTTGGAGATATATTTTTGCTATGTTATAGATAATTGTTTAAAAATTGTAAACATACTAAATATTTGCCACCCAATGAATGAGTAGTATAGTATAGTGTACTATATACTATACTACTAGTATATATAGTATACAGTATATAGTATAGTATATAGTGTACTATATACTATACTACTAGTATAGTACTATATACTATACTATACATAAATTTTAAATTGGCATCTATACATTCACATGAATTGATCAAATCGAGTGCTGAAAGCAAGTTGCTAAAGTATATGTTACTTATTTTTAAAATGCAAATAGTATTTTTTAAATACATGTTTGCATTTATGTAAGTCTGTTGAAAACCACATTCAGAAACTGATTGGCAGTTGGTTTAATGGTGGGCTTGTATTCTATATTCTTTGGGAAAAAGTCTGTGAGCTGTAATTTATAATTTTATTTCATGGATTGACCTACAGTGCCATATCGATTTAGATTTTTTAAAAATACTACTTCTCTGTAAATTGTATTGTTATAGTCTAAACAAAAACAGCTACTATCGTTTCCCTTAGAACTGTGTGAAAAAATCATTTCAGATAAAAATATATTTGTGTCATTTACTAGTTATATGTTTTGGTCTTAAAGTATATCAAAAGGTTTTTTATCCATTAATGAGAAAGACACAATTTAAAAAATCTTTAGAGCTTTTCAAAATCTCTTGTTCTGTCACCTGGGACTTTGATGGGTCTATTTCCATGTTAACAGCTGTAACTTAAACTCAGCATTGGGCTTTGTGATTGTTTTTATAACTTTCACACTATCAGCTCTTTCATGCTGCTTTCAATTTAGAGGTTAGAATCAAGAAGATTTTACAGGTCAAAATTTTAAGTGGCCATCTCTAATGTGAAGGAAATAACTTTTTCTTGAAATTTTTTATCATATATACTTTTCACATAAGCTGTTTATTGATACGATCATTTGGCTTTCAAACCAATACCAGAAGGTAAAAAGTTGTATGTCTTGGGTAGTGGTGGTGGTGATAATGGTTTAATGGAATCTTAAGGATCAGCCTATGCCTTTGGCCTTTAAAATTAACCACTTACTTGAAAACAGCATAATGAGTTATGTAACATTTATATGTTGTAAATTTTCTTTTTAAATCTTGTTTTCCCCTATTGTTTGTTTATATGTACAGAGTCTGGTGCTGGCAGACAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGGTAAGTTTCTAGGAAATAAATGGTTAAACTCCGTTGTTAGTGATACTTTAGATAACCTTGTTTTGCTTTCCATTAACTTGGTGTTTATTAGCTATCTAACCACTTTATGACATATTTTAGAAAAGTCAGTTTTTAAATTATTTAAATTATCTCAATTTTTTTTCTTAGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTAAGTCATTTTGTATTCAAGACAAAAATTATGCTTTGGGGAATGATGAGGCAGGTGAGATCGTGATACACAAACAAGCTTCCACTTTCCTAAATTACAAGTAAAATACAGAATGTTTCAGAAAGGTGGTAATGATGGTTGATACTGTCATTGAGAATTCTTAAGATGAAGTATTTCTTATTTTAAATAAATTTGTATCCTGCTTAAAAGAAATCAACACGTTCTGTTAGGAATCTGGACCTGTGGAAAATTTAAGGCTTTCTACATAATAATAATGTTTATATTTAGCTCTAGCTTCTGGCAAAAGATACTGGATAATAATATCACCAAGGGAGTGATGTGTAATGTAATTTTTCATTTGGGTAATGAGCTGTTTGTATTTTACTTCAAACATCTGCAGTTTGTCATACTATGGAGGTATCTGGGGCAGCACACACTGATACTGAAATATGTAAATTATTCTTGAGTCAATTCACAGAAAGTTTGCTGCAGTTTTGTTTTGTTTAGTTTTGTTTTCTGTTTTTTGTTTTTTTTTGAGACACAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCACTCACTGCACCCTCTGCCTCCCAAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACATGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCGAACTTCTTACCTCAAGTGATCTGCCCACCTTGGCCCCCACAAAGTGCTAGGATTACAGGTGTTAGCCACCACACCCAGCCTACGTTTGCTGCAATTCTTAATAATGTTTCATATAATTGAAAGACAAGACATTTTCTGAGTTGTGCTCTATCATCTCTTCCCTTTTCATTTGTCATATTTTTTTGCTAAGGTTTTTGGCCTTGTGTTATTTTGATCAAGTTAACCAAGAAATATTTACCGCTTGCCTCAAAGTACTCACTTTTGTGTATGCCTGCACAAGATCAAGGATATTTAGAATATAATAGGAGCTAAATCTAGTAGTGAGATAATGTCATTTGTGTAGCACTAAAAATTGTTTTTATAAAGTCTTTGAGAACAGCCTTGTGCAATTATGTATAAATTATGTATACTCGTGGATTAAGATTAAGTAACTTATCCAAGATTACTAGGAGTTTGCAGTATATCATATCTCCCTTTAGTTGCATTAATTTTGTTTTCTCATTTTTGTATATCAGAATTGAGCCTTAAGATGTATAGTTTAATTTTGAATTTCTGAAATGGTCACCTATCAGTTTTCATTTTAGCAACAGACATTAAAAGGAAAAAACAAAAGGAACTTTAAAATATTTTTCAAAAACTATGATTTGGGGGCTATCAGAAATTGATGCAAATTTTTGGTTTTTTATTTTAGGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTACAGCTTCCAACTATACGTGAAAGATTTTTTATTAAAGTCTATTCTACAATTTTCTCAATTATTCAGTTTTTATTAGGAATTCTGAGTATTGTTGTTTTAGGGTACAAAGACGTGCATTATCGTCACTA | pathogenic | 286,846 |
Does the variant on chromosome 18 at location 2769975 affecting gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTGTATCTAAACATAGAAAAGGTATAGTAAAATACAGTATTATAATCTTTTGGGACCACCATTGTACATGTGGTCCTTTGTTAGTGAATTGTTATGTGGTGCATGACTGTATGTTAGATACATATAATTAAAGGACTGATATATTGAACAGATTTCTAAAACCTCCTAAGGAACTACTTGCAAATCAATTAAAAAAAAAAGACAAACCGGTAGAAAAATAAATGGGCAAAGAATATGAGCAGGCAATTAATGGAAAAGAAAATATAAATAACCTGTAAACATAAGAAGCATGATTTCAGTACCACTCAGGGAGATGTTAGTTAAAATAATAATGACTGGTTGCTTTTTAATTCCCCTTTTTAGAAAAAAATATGATTGATATTAAATGTTGGCCAGCATAAGGGGAATTGGGCACTCCCATATACTGCTGGTGAGAGGATAAATTGATACAGCTTCTTATAAGGGAAATTTGATACTTACCTTTTAAAATAAACTTATACTTCTCATTATTCATCCCAGAAAACACATTTGCAGAGAAACATTTGGAGATATATTTTTGCTATGTTATAGATAATTGTTTAAAAATTGTAAACATACTAAATATTTGCCACCCAATGAATGAGTAGTATAGTATAGTGTACTATATACTATACTACTAGTATATATAGTATACAGTATATAGTATAGTATATAGTGTACTATATACTATACTACTAGTATAGTACTATATACTATACTATACATAAATTTTAAATTGGCATCTATACATTCACATGAATTGATCAAATCGAGTGCTGAAAGCAAGTTGCTAAAGTATATGTTACTTATTTTTAAAATGCAAATAGTATTTTTTAAATACATGTTTGCATTTATGTAAGTCTGTTGAAAACCACATTCAGAAACTGATTGGCAGTTGGTTTAATGGTGGGCTTGTATTCTATATTCTTTGGGAAAAAGTCTGTGAGCTGTAATTTATAATTTTATTTCATGGATTGACCTACAGTGCCATATCGATTTAGATTTTTTAAAAATACTACTTCTCTGTAAATTGTATTGTTATAGTCTAAACAAAAACAGCTACTATCGTTTCCCTTAGAACTGTGTGAAAAAATCATTTCAGATAAAAATATATTTGTGTCATTTACTAGTTATATGTTTTGGTCTTAAAGTATATCAAAAGGTTTTTTATCCATTAATGAGAAAGACACAATTTAAAAAATCTTTAGAGCTTTTCAAAATCTCTTGTTCTGTCACCTGGGACTTTGATGGGTCTATTTCCATGTTAACAGCTGTAACTTAAACTCAGCATTGGGCTTTGTGATTGTTTTTATAACTTTCACACTATCAGCTCTTTCATGCTGCTTTCAATTTAGAGGTTAGAATCAAGAAGATTTTACAGGTCAAAATTTTAAGTGGCCATCTCTAATGTGAAGGAAATAACTTTTTCTTGAAATTTTTTATCATATATACTTTTCACATAAGCTGTTTATTGATACGATCATTTGGCTTTCAAACCAATACCAGAAGGTAAAAAGTTGTATGTCTTGGGTAGTGGTGGTGGTGATAATGGTTTAATGGAATCTTAAGGATCAGCCTATGCCTTTGGCCTTTAAAATTAACCACTTACTTGAAAACAGCATAATGAGTTATGTAACATTTATATGTTGTAAATTTTCTTTTTAAATCTTGTTTTCCCCTATTGTTTGTTTATATGTACAGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGGTAAGTTTCTAGGAAATAAATGGTTAAACTCCGTTGTTAGTGATACTTTAGATAACCTTGTTTTGCTTTCCATTAACTTGGTGTTTATTAGCTATCTAACCACTTTATGACATATTTTAGAAAAGTCAGTTTTTAAATTATTTAAATTATCTCAATTTTTTTTCTTAGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTAAGTCATTTTGTATTCAAGACAAAAATTATGCTTTGGGGAATGATGAGGCAGGTGAGATCGTGATACACAAACAAGCTTCCACTTTCCTAAATTACAAGTAAAATACAGAATGTTTCAGAAAGGTGGTAATGATGGTTGATACTGTCATTGAGAATTCTTAAGATGAAGTATTTCTTATTTTAAATAAATTTGTATCCTGCTTAAAAGAAATCAACACGTTCTGTTAGGAATCTGGACCTGTGGAAAATTTAAGGCTTTCTACATAATAATAATGTTTATATTTAGCTCTAGCTTCTGGCAAAAGATACTGGATAATAATATCACCAAGGGAGTGATGTGTAATGTAATTTTTCATTTGGGTAATGAGCTGTTTGTATTTTACTTCAAACATCTGCAGTTTGTCATACTATGGAGGTATCTGGGGCAGCACACACTGATACTGAAATATGTAAATTATTCTTGAGTCAATTCACAGAAAGTTTGCTGCAGTTTTGTTTTGTTTAGTTTTGTTTTCTGTTTTTTGTTTTTTTTTGAGACACAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCACTCACTGCACCCTCTGCCTCCCAAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACATGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCGAACTTCTTACCTCAAGTGATCTGCCCACCTTGGCCCCCACAAAGTGCTAGGATTACAGGTGTTAGCCACCACACCCAGCCTACGTTTGCTGCAATTCTTAATAATGTTTCATATAATTGAAAGACAAGACATTTTCTGAGTTGTGCTCTATCATCTCTTCCCTTTTCATTTGTCATATTTTTTTGCTAAGGTTTTTGGCCTTGTGTTATTTTGATCAAGTTAACCAAGAAATATTTACCGCTTGCCTCAAAGTACTCACTTTTGTGTATGCCTGCACAAGATCAAGGATATTTAGAATATAATAGGAGCTAAATCTAGTAGTGAGATAATGTCATTTGTGTAGCACTAAAAATTGTTTTTATAAAGTCTTTGAGAACAGCCTTGTGCAATTATGTATAAATTATGTATACTCGTGGATTAAGATTAAGTAACTTATCCAAGATTACTAGGAGTTTGCAGTATATCATATCTCCCTTTAGTTGCATTAATTTTGTTTTCTCATTTTTGTATATCAGAATTGAGCCTTAAGATGTATAGTTTAATTTTGAATTTCTGAAATGGTCACCTATCAGTTTTCATTTTAGCAACAGACATTAAAAGGAAAAAACAAAAGGAACTTTAAAATATTTTTCAAAAACTATGATTTGGGGGCTATCAGAAATTGATGCAAATTTTTGGTTTTTTATTTTAGGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTACAGCTTCCAACTATACGTGAAAGATTTTTTATTAAAGTCTATTCTACAATTTTCTCAATTATTCAGTTTTTATTAGGAATTCTGAGTATTGTTGTTTTAGGGTACAAAGACGTGCATTATCGTCACTAGACATTAAAAATGACTAACAAAATGATAGAGTGCTCTATTCAAAGAAATTGCAATTTGTATTTTTAATGTAATGACACCAATAAATGCAATTAATAATACATCAGTTCAAGTACTGCATTGAAAAGGCTGCATAACCACTACACGTGATGGTAAACAAAATAAGAGAAAATAAAAAGCAATCTAGATTTTTAAAATTTATATTCTTTTATATGTGTAACTCAGTTTCAAGAGAAGTCCTATTATAGGTAGTGTATTTCTTGGCTAAGATTTTT | TATGTGACTGTACTGAACACTGTAGGTAATTTTAACATAATAGTATCTGTGTATCTAAACATAGAAAAGGTATAGTAAAATACAGTATTATAATCTTTTGGGACCACCATTGTACATGTGGTCCTTTGTTAGTGAATTGTTATGTGGTGCATGACTGTATGTTAGATACATATAATTAAAGGACTGATATATTGAACAGATTTCTAAAACCTCCTAAGGAACTACTTGCAAATCAATTAAAAAAAAAAGACAAACCGGTAGAAAAATAAATGGGCAAAGAATATGAGCAGGCAATTAATGGAAAAGAAAATATAAATAACCTGTAAACATAAGAAGCATGATTTCAGTACCACTCAGGGAGATGTTAGTTAAAATAATAATGACTGGTTGCTTTTTAATTCCCCTTTTTAGAAAAAAATATGATTGATATTAAATGTTGGCCAGCATAAGGGGAATTGGGCACTCCCATATACTGCTGGTGAGAGGATAAATTGATACAGCTTCTTATAAGGGAAATTTGATACTTACCTTTTAAAATAAACTTATACTTCTCATTATTCATCCCAGAAAACACATTTGCAGAGAAACATTTGGAGATATATTTTTGCTATGTTATAGATAATTGTTTAAAAATTGTAAACATACTAAATATTTGCCACCCAATGAATGAGTAGTATAGTATAGTGTACTATATACTATACTACTAGTATATATAGTATACAGTATATAGTATAGTATATAGTGTACTATATACTATACTACTAGTATAGTACTATATACTATACTATACATAAATTTTAAATTGGCATCTATACATTCACATGAATTGATCAAATCGAGTGCTGAAAGCAAGTTGCTAAAGTATATGTTACTTATTTTTAAAATGCAAATAGTATTTTTTAAATACATGTTTGCATTTATGTAAGTCTGTTGAAAACCACATTCAGAAACTGATTGGCAGTTGGTTTAATGGTGGGCTTGTATTCTATATTCTTTGGGAAAAAGTCTGTGAGCTGTAATTTATAATTTTATTTCATGGATTGACCTACAGTGCCATATCGATTTAGATTTTTTAAAAATACTACTTCTCTGTAAATTGTATTGTTATAGTCTAAACAAAAACAGCTACTATCGTTTCCCTTAGAACTGTGTGAAAAAATCATTTCAGATAAAAATATATTTGTGTCATTTACTAGTTATATGTTTTGGTCTTAAAGTATATCAAAAGGTTTTTTATCCATTAATGAGAAAGACACAATTTAAAAAATCTTTAGAGCTTTTCAAAATCTCTTGTTCTGTCACCTGGGACTTTGATGGGTCTATTTCCATGTTAACAGCTGTAACTTAAACTCAGCATTGGGCTTTGTGATTGTTTTTATAACTTTCACACTATCAGCTCTTTCATGCTGCTTTCAATTTAGAGGTTAGAATCAAGAAGATTTTACAGGTCAAAATTTTAAGTGGCCATCTCTAATGTGAAGGAAATAACTTTTTCTTGAAATTTTTTATCATATATACTTTTCACATAAGCTGTTTATTGATACGATCATTTGGCTTTCAAACCAATACCAGAAGGTAAAAAGTTGTATGTCTTGGGTAGTGGTGGTGGTGATAATGGTTTAATGGAATCTTAAGGATCAGCCTATGCCTTTGGCCTTTAAAATTAACCACTTACTTGAAAACAGCATAATGAGTTATGTAACATTTATATGTTGTAAATTTTCTTTTTAAATCTTGTTTTCCCCTATTGTTTGTTTATATGTACAGAGTCTGGTGCTGGCAGAAAGTAGTCCTGGAAGGGATAGTACTGAATATTTTATTGTATTTGAGCCCCGGCTACCACTTTTATCAAGAACCTTAGAACCATATATCCTACCGTTCATGTTTTACAATGGTAAGTTTCTAGGAAATAAATGGTTAAACTCCGTTGTTAGTGATACTTTAGATAACCTTGTTTTGCTTTCCATTAACTTGGTGTTTATTAGCTATCTAACCACTTTATGACATATTTTAGAAAAGTCAGTTTTTAAATTATTTAAATTATCTCAATTTTTTTCTTAGATGTTAAGAAGCAGCAACAAATGGCAGCACTTACAAAAGAAAAGGACCAATTATCTCAGTCTATTGTTATGTATAAAAGTTTATTTGAAGCCAGCCAACAGCTTCTTAATGAAATGAAATGTAAGTCATTTTGTATTCAAGACAAAAATTATGCTTTGGGGAATGATGAGGCAGGTGAGATCGTGATACACAAACAAGCTTCCACTTTCCTAAATTACAAGTAAAATACAGAATGTTTCAGAAAGGTGGTAATGATGGTTGATACTGTCATTGAGAATTCTTAAGATGAAGTATTTCTTATTTTAAATAAATTTGTATCCTGCTTAAAAGAAATCAACACGTTCTGTTAGGAATCTGGACCTGTGGAAAATTTAAGGCTTTCTACATAATAATAATGTTTATATTTAGCTCTAGCTTCTGGCAAAAGATACTGGATAATAATATCACCAAGGGAGTGATGTGTAATGTAATTTTTCATTTGGGTAATGAGCTGTTTGTATTTTACTTCAAACATCTGCAGTTTGTCATACTATGGAGGTATCTGGGGCAGCACACACTGATACTGAAATATGTAAATTATTCTTGAGTCAATTCACAGAAAGTTTGCTGCAGTTTTGTTTTGTTTAGTTTTGTTTTCTGTTTTTTGTTTTTTTTTGAGACACAGTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCACTCACTGCACCCTCTGCCTCCCAAGTTCAAGTGATTCTCGTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCACATGCCACCACGCCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCGAACTTCTTACCTCAAGTGATCTGCCCACCTTGGCCCCCACAAAGTGCTAGGATTACAGGTGTTAGCCACCACACCCAGCCTACGTTTGCTGCAATTCTTAATAATGTTTCATATAATTGAAAGACAAGACATTTTCTGAGTTGTGCTCTATCATCTCTTCCCTTTTCATTTGTCATATTTTTTTGCTAAGGTTTTTGGCCTTGTGTTATTTTGATCAAGTTAACCAAGAAATATTTACCGCTTGCCTCAAAGTACTCACTTTTGTGTATGCCTGCACAAGATCAAGGATATTTAGAATATAATAGGAGCTAAATCTAGTAGTGAGATAATGTCATTTGTGTAGCACTAAAAATTGTTTTTATAAAGTCTTTGAGAACAGCCTTGTGCAATTATGTATAAATTATGTATACTCGTGGATTAAGATTAAGTAACTTATCCAAGATTACTAGGAGTTTGCAGTATATCATATCTCCCTTTAGTTGCATTAATTTTGTTTTCTCATTTTTGTATATCAGAATTGAGCCTTAAGATGTATAGTTTAATTTTGAATTTCTGAAATGGTCACCTATCAGTTTTCATTTTAGCAACAGACATTAAAAGGAAAAAACAAAAGGAACTTTAAAATATTTTTCAAAAACTATGATTTGGGGGCTATCAGAAATTGATGCAAATTTTTGGTTTTTTATTTTAGGTCAAGTTGAAGAAGCAAGATTAAAAGAGGCCCAATTGCGAAATGAACTAAAAATACATAATATTGACATTCCTACAACACAACAGGTACAGCTTCCAACTATACGTGAAAGATTTTTTATTAAAGTCTATTCTACAATTTTCTCAATTATTCAGTTTTTATTAGGAATTCTGAGTATTGTTGTTTTAGGGTACAAAGACGTGCATTATCGTCACTAGACATTAAAAATGACTAACAAAATGATAGAGTGCTCTATTCAAAGAAATTGCAATTTGTATTTTTAATGTAATGACACCAATAAATGCAATTAATAATACATCAGTTCAAGTACTGCATTGAAAAGGCTGCATAACCACTACACGTGATGGTAAACAAAATAAGAGAAAATAAAAAGCAATCTAGATTTTTAAAATTTATATTCTTTTATATGTGTAACTCAGTTTCAAGAGAAGTCCTATTATAGGTAGTGTATTTCTTGGCTAAGATTTTTN | benign | 286,848 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 2784406, gene SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1): what disease(s) if pathogenic? | benign | AAACTGTCTGTCCTTCTACCATAACTCTTCCCTCATGTTGCTTCTTAACAAGATAATAGAAAATCTATACATTTTAGTGTATTTATTTAAGATCATATTAGGCTGAGCATGATGGCTCATGCCTGTAATCTCAGCACTTTGAGAGGCCAAGGCAGGAATATCACTTGAAGGCAAGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACGCCAACTCTACAAAGTTTAAAAAAAAAAAAGTAACCGGGCATGGTGGCCTACACCTGTAGTCCCAGCTATTCAGGTGGCTCAGTTGGGATAATTGTTTGAGCCCAGAAGTTGGAAGCTGTAGTGAGCCATGGTCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCACAACTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATATTAAATCCTTAGAAACATTGACTGCCTGAATCTTGATAAGTGGATAGCACATGAAGCCAGTTTGTATTTTTGTTGTTGTTGTTCACCACTAGAAAACATATAAACCCAAACCAAAACTAAGAAATTAAGTTGTGGTTATTTCTTGTAAAAACAAATGATTTTTGAATTTGTAAATACTGGCTTTACCAAAGAATTCACCACAGGATTTCTTCAAATAACCATCTTAATTACATTTACTTTATCTTGTATTTATATAATTCAGAGACTATTTAGCCCCAATATTAGGTTGGACTACGTTTTTATACTTGTTAAAAATTAGTGTTTTTCTTCATTCATTAATATATGTATACTATTTCATTGTATGGATGTGCCGTAATTTACTTGTATAACTTGTTGAGACATGTAAGTTTACTACTTTTCATTATTAAAACAATATTTCCGTATACATCGTTCACATCTGTTACTATTTTTTCCTGATTAGATTCTTAGAATTGCTGAATCGTGCAGAATGTTAAACTTTTTAACACTTGTCCCATTTCCTTTGAGAAGGGCTGTCCCAGGGCATATCAGTACAAGAAGGCCCTTTTTCCATAGCCCCCCACCAAAGTTGTGTGTGTGTGTGCATTTTAACATATTGAGTAGTAAAAATATCTTATTTGAATTCCACGTCTCTGGTTACCAATGAAGTTTAACTTTTATTTTTTAATATTTTCTGAACCTTTTTTGCAAGAACATTCTTCTAGATTATGACGTACTAAATCCAGTATTTTTCCTTTATTCTGACTTCTCTGAAGAATTTCTTTCTTTTTTTTTTTCTGAGACAGAGTCTCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGAGGTTTCAACATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGACATTAAGAATTTAATTCTTAATTAACCCTTCATCTTTTCCCATCCATGACTTCAGTTTTTCTACATTATTTCAGTTCCCCTAACTCTCAAATTATCACCTCTTTATCTTCCCATACCTAAAACCATAGTATTATCTTTGGAAGAGTCAGTCTAGTGCTTTCCAGTCTGTATTTTCTTCAATGTAATATTCTCCTTTTGCTATCCTTTGGTCATCTAAAAAACTTAAATCTAACAGAGGAAACTGGGTTGGTGATGCTACCTTGATACTTAACTGCCATGGGTTCCAAAGCACAGAACTCTCTGGCCTGTCCTCTTCCTTCCACTTATCAATCCATCATTTACTTTTTTCACTTGCGTTGTCACTGTTCTAGTTTAGGCTGACATTTGAAAAGTTGTCTAATTCATCTCTCTGCCTCTGGATTTTTCCCTCCAGTTTATCTTACATATTGCTAGTTACTAAGTTTTTGAAAATACTACTGTGATCCTGTCATTTCTAATCTCAGAAACTTTAAATTATTTCTCCTTTTTTGGAGCAGTTGAAATAAGTTGCTCACTACTTACTATTCACTTATTTACAATAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGGTAAGTTGAATAAGTACTTAAATAGCAATTTCTAATTTAATTTTACTCTTATTTTTCTAAGAGCTTATGTTTTGAGAATCTAACATGAAAAATTAACAAATGTAAGTAAGTAACAAATGTAAGTAAGATGTTTTTGTCTACTACTTTCAGCTTTTTTATATCAGGTAGTTTAGAGTTATGTAAATAGTAGCTTTATCCTTTGTATTTTCATTCTTATATGTAGTGCATGCCTGTGTTCCCAGCTACTCAGGAGGCTAAGACAAGAGTGTCGCTTGAGCCCAGGAGTTTGAGGTCAGCCTGGGCAACGTAGCAAGACTCCATCTCTTAAAAAAAAAAAAAGAAGAAATTTCTGTCATTATTGAATAAGTCAGTATTTTATTACATAATCATAATACTTATTTCTATCTTGAAATTTGTAACTATCTAGAACAATTAAGGCTTATTAGAAAGTGTATGACATGTGATCTCCTGCCCCTTTTTCCCTTCCACAGGCTGTGTCCCTTTGCATCTAATTAGCCAATATAATTGTCCCTGCACGTCTGTGCTCTGAAGTGCATATACTTACCAGGAAGTCTCCTTACCATCCATTAGCTTAGAGCCTATTTGCTCTTAATTTATATAATTAATTCTGATACACTCAACTCTACTTTCCTAACACAGAGCAGTTTGTTGTTAACTTTCTTTTAATTGAAAAATACATATAACATAAAATTTACCATCTTAACCATTTTTAAGAGTACAGTTTGGCCGGGCTCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCGGATCATGAGGTCAGGAGATCGAGCCCATCTTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAATTAGCTGGGCGTGGTGACACGCACCTGTAGTCCCAGCTACTTGGGAGACTGAGGTAGGAGAATCATTTGAACCCAGGAGGTGGAGGTTACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAGTTCATTGGTGTTAAGTGCATTCACATTGTTGTTCATTCTATCTCCAGAACTGTTTTCGGTATGCACAGTTGAAACTTTGTATAAACTCTCCATTGTCCATTCCCTGACACCCATTATACTTCTTTCTGTCTCTCTGAATGTGACTTCTAGATACTTCATATAAGTAGAATCATACAGAGTTTGTCCTTTTGTGACTGGCTAATTTCACTTGGCATAATGTCCTCAGGTCTGTCCATGTTGTAATAAGTGTTAGAATGTCCTTCCTTTGTAAGGCTGAATAATATATATTTCACTGTATCTATTTGCAACGTTTTGTTTACTTTTATTTACTTTTTTCTTATTTTTTATTTTTTATTTTTTTGAGATAGTCTGACTGTCACCTAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCGGTCTCCCGGGATCAAGCAATGTTTGTGCCTCAGCCACCCAAGTTGCTGGGATTACAGACATGCGCCACCACACCTGGCAAACTTTTGTATCTTTAGTAGAGATGGGGTTTGAACTCCTGGCCTTAAGTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGGCACCGTGTCTGGCCACTTTGTTTGCTTTTATTAAAGTAAAATACACATAGAAAAATGTGCATATTTTGTGAACATTCAGCTTGATGGATCTTCACAACATGAACACTGCACTTATATTAAAAAATAGAACATTAGGCTGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGA | AAACTGTCTGTCCTTCTACCATAACTCTTCCCTCATGTTGCTTCTTAACAAGATAATAGAAAATCTATACATTTTAGTGTATTTATTTAAGATCATATTAGGCTGAGCATGATGGCTCATGCCTGTAATCTCAGCACTTTGAGAGGCCAAGGCAGGAATATCACTTGAAGGCAAGAGTTCGAGACCAGCCTGGGCAACATAGTGAGACGCCAACTCTACAAAGTTTAAAAAAAAAAAAGTAACCGGGCATGGTGGCCTACACCTGTAGTCCCAGCTATTCAGGTGGCTCAGTTGGGATAATTGTTTGAGCCCAGAAGTTGGAAGCTGTAGTGAGCCATGGTCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACCACAACTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATATTAAATCCTTAGAAACATTGACTGCCTGAATCTTGATAAGTGGATAGCACATGAAGCCAGTTTGTATTTTTGTTGTTGTTGTTCACCACTAGAAAACATATAAACCCAAACCAAAACTAAGAAATTAAGTTGTGGTTATTTCTTGTAAAAACAAATGATTTTTGAATTTGTAAATACTGGCTTTACCAAAGAATTCACCACAGGATTTCTTCAAATAACCATCTTAATTACATTTACTTTATCTTGTATTTATATAATTCAGAGACTATTTAGCCCCAATATTAGGTTGGACTACGTTTTTATACTTGTTAAAAATTAGTGTTTTTCTTCATTCATTAATATATGTATACTATTTCATTGTATGGATGTGCCGTAATTTACTTGTATAACTTGTTGAGACATGTAAGTTTACTACTTTTCATTATTAAAACAATATTTCCGTATACATCGTTCACATCTGTTACTATTTTTTCCTGATTAGATTCTTAGAATTGCTGAATCGTGCAGAATGTTAAACTTTTTAACACTTGTCCCATTTCCTTTGAGAAGGGCTGTCCCAGGGCATATCAGTACAAGAAGGCCCTTTTTCCATAGCCCCCCACCAAAGTTGTGTGTGTGTGTGCATTTTAACATATTGAGTAGTAAAAATATCTTATTTGAATTCCACGTCTCTGGTTACCAATGAAGTTTAACTTTTATTTTTTAATATTTTCTGAACCTTTTTTGCAAGAACATTCTTCTAGATTATGACGTACTAAATCCAGTATTTTTCCTTTATTCTGACTTCTCTGAAGAATTTCTTTCTTTTTTTTTTTCTGAGACAGAGTCTCCTGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGATGAGGTTTCAACATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGACATTAAGAATTTAATTCTTAATTAACCCTTCATCTTTTCCCATCCATGACTTCAGTTTTTCTACATTATTTCAGTTCCCCTAACTCTCAAATTATCACCTCTTTATCTTCCCATACCTAAAACCATAGTATTATCTTTGGAAGAGTCAGTCTAGTGCTTTCCAGTCTGTATTTTCTTCAATGTAATATTCTCCTTTTGCTATCCTTTGGTCATCTAAAAAACTTAAATCTAACAGAGGAAACTGGGTTGGTGATGCTACCTTGATACTTAACTGCCATGGGTTCCAAAGCACAGAACTCTCTGGCCTGTCCTCTTCCTTCCACTTATCAATCCATCATTTACTTTTTTCACTTGCGTTGTCACTGTTCTAGTTTAGGCTGACATTTGAAAAGTTGTCTAATTCATCTCTCTGCCTCTGGATTTTTCCCTCCAGTTTATCTTACATATTGCTAGTTACTAAGTTTTTGAAAATACTACTGTGATCCTGTCATTTCTAATCTCAGAAACTTTAAATTATTTCTCCTTTTTTGGAGCAGTTTAAGTTGCTCACTACTTACTATTCACTTATTTACAATAGGTTGTTAAAATTACACACTGTCCTACACTGCTGACCAGAGATGGAGATCGAATTCGAAGTAATGGAAAGTTTGGGGGCCTTCAGAATAAAGCTCCTCCAATGGATAAACTTCGGGGAATGGTATTTGGAGCTCCAGTTCCAAAACAGTGTCTGATCTTAGGGGAACAAATAGGTAAGTTGAATAAGTACTTAAATAGCAATTTCTAATTTAATTTTACTCTTATTTTTCTAAGAGCTTATGTTTTGAGAATCTAACATGAAAAATTAACAAATGTAAGTAAGTAACAAATGTAAGTAAGATGTTTTTGTCTACTACTTTCAGCTTTTTTATATCAGGTAGTTTAGAGTTATGTAAATAGTAGCTTTATCCTTTGTATTTTCATTCTTATATGTAGTGCATGCCTGTGTTCCCAGCTACTCAGGAGGCTAAGACAAGAGTGTCGCTTGAGCCCAGGAGTTTGAGGTCAGCCTGGGCAACGTAGCAAGACTCCATCTCTTAAAAAAAAAAAAAGAAGAAATTTCTGTCATTATTGAATAAGTCAGTATTTTATTACATAATCATAATACTTATTTCTATCTTGAAATTTGTAACTATCTAGAACAATTAAGGCTTATTAGAAAGTGTATGACATGTGATCTCCTGCCCCTTTTTCCCTTCCACAGGCTGTGTCCCTTTGCATCTAATTAGCCAATATAATTGTCCCTGCACGTCTGTGCTCTGAAGTGCATATACTTACCAGGAAGTCTCCTTACCATCCATTAGCTTAGAGCCTATTTGCTCTTAATTTATATAATTAATTCTGATACACTCAACTCTACTTTCCTAACACAGAGCAGTTTGTTGTTAACTTTCTTTTAATTGAAAAATACATATAACATAAAATTTACCATCTTAACCATTTTTAAGAGTACAGTTTGGCCGGGCTCGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTAGGCGGATCATGAGGTCAGGAGATCGAGCCCATCTTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAAAAATTAGCTGGGCGTGGTGACACGCACCTGTAGTCCCAGCTACTTGGGAGACTGAGGTAGGAGAATCATTTGAACCCAGGAGGTGGAGGTTACAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGCAACAGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAACAGTTCATTGGTGTTAAGTGCATTCACATTGTTGTTCATTCTATCTCCAGAACTGTTTTCGGTATGCACAGTTGAAACTTTGTATAAACTCTCCATTGTCCATTCCCTGACACCCATTATACTTCTTTCTGTCTCTCTGAATGTGACTTCTAGATACTTCATATAAGTAGAATCATACAGAGTTTGTCCTTTTGTGACTGGCTAATTTCACTTGGCATAATGTCCTCAGGTCTGTCCATGTTGTAATAAGTGTTAGAATGTCCTTCCTTTGTAAGGCTGAATAATATATATTTCACTGTATCTATTTGCAACGTTTTGTTTACTTTTATTTACTTTTTTCTTATTTTTTATTTTTTATTTTTTTGAGATAGTCTGACTGTCACCTAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCGGTCTCCCGGGATCAAGCAATGTTTGTGCCTCAGCCACCCAAGTTGCTGGGATTACAGACATGCGCCACCACACCTGGCAAACTTTTGTATCTTTAGTAGAGATGGGGTTTGAACTCCTGGCCTTAAGTGATCCACCTTCCTTGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGGCACCGTGTCTGGCCACTTTGTTTGCTTTTATTAAAGTAAAATACACATAGAAAAATGTGCATATTTTGTGAACATTCAGCTTGATGGATCTTCACAACATGAACACTGCACTTATATTAAAAAATAGAACATTAGGCTGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGANNNN | benign | 286,858 |
The mutation impacting LPIN2 (lipin 2) on chromosome 18 at position 2921656: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | ACTAAGAAATTAAGGGCTCGTGGAGTTGTCACAGATGAGAGGAGGATGCTCTGTGGGGATCTTTCCCCAAAGAGGGCCAGGTTTATGGGACTGGGCTCAGTGGCTCTGGTGCATGGGCCCTGCAGGGGCGGGGGTCCTGCCCAACTTGGCCCACTGGAGCAGCTGACCCCTTCAGTGTAGCAGGAAATGAGGCGACCAGAGAAGAAACGTGCACAGGCAGCTTCAGCCAGCATCACTGACTGGGCCCGCAGCAGTTCAGGGACCCTGACATCTGAAGACAGCCCTGGTTACAGAAGCCACCTCAACTGCCCAGTGGAAACTGGAACACTTCACTGTGTGCAGTGTTTTGGTCCACTCTTTTTTAGCTGCTTTTTTCTTCCTTTAAAATGATGCAATGGAAGGAGGCCCCAGCTCACAGCAGGAAACATGTGTGCGACCCACAAAGGAGGGATCCCAGGCCTCCAGCCCCAGGCCCAGTTCCTCCCTTCTCCTTCCAGGAGCTGAGCTGCAGACCTGCCGAGCCTGAGCAGCTGGCCTGGGAAGGCAAAGGAGGATGGCGGGACCAGCTCCAGAAGCACCCGTCCCCGCTGGGGAAGGCTGGTATCTGAGGTCAGCAGAAGAGCCAGCTGCCTTCCCTTGCTGTGGGGAGGGGGACCAAGCCCTGCCCACCCACTGAGGTGCCGCCTCAAGACAGGTCATCCAGGTCCACTTCAGGGATCGGGTCTCGCCAGTAGCAGAAGGAGCTGAACTCCGGGCAGGGAAAAGCGGAATTCTGCTCCTTACTGAGAAGGGGGAACACATGCTCCACGAGCTCACTCAGCCTGTGATACCTAAGAGAAAGGTTGGGGAAGAGGCACAGGCTATTACTTCAAGATCGGTCAAAGGCACAAGATGGGGGGCTGTGAAGCTGTCACTCAGATTGCTCAGGTGGGCAGGTTCAGAGGCAGGCCTCAGTCCCATCACAGGGCTCAAACTCCCTCTTACAAGTCTAGGATAACCAGAGACCCCTCAAACAGATATTGTGAAAGAGAGATACCCACAGAGGAGATGTAGCTGATCCTTTGATCAGGGCCTGATCTCAAGGATCAGGGGGAAAAGGACAGGGTCTGTCTGTCCCCAACTGTACCCCTGGCTGCAGGGCGCCGGGCTGAGAGCTGAGAATGTACTTACGATGACTTGTTTCCTTTGGTTCTTTCTTGTATTAATTCACCCTTGGGGTTCACGGTGAATATTCTACAGTCTGGAACTCCAACTTGTGTGTAGGCATAGACATCCTGCAGAAGAAAATAGCAAGCGGGTGATTCCAGGGAGGAGAATTCAGGAGATACTTCTCAGGCTCCTTGTGAGCCAGAAGCACTGCACAGACAGACTCGACAGAAAACATGCGGAGGCGGCACAGTGCAGTTGCCACCAAAACTGAGCTTTAGACAAACCTAAACTACAGAGTGGTGCTTGGAGAGTCAGAAAACTTGGGCAGCCACCAAGGGGAAGCCAGGGTCCCTGGCGCAGAAGAGGCCAGAGAGGCCACATCTTCTGCACACCTGAGGCCCGATGGCCCTGCAGAAGGGAGGCAGGTTGGGAAGTGCTAGCGAAGGGCCAGCACTGACCCTGGCTCTGGGGTGATCCAAGGACGCAGCTCAGAACTGCTTAGAAGAGGAGCCGGAGCTGCCTGAGGAAATGGAATGGCAGCCACAGAAACGATGGAAAAGCGTCCTTCGTATAAATTCTGGGGCAGATCTGCACCTGCAGGACCTCCCCAGTTGCTATAGATATTTGGAATAGATCAAGTGAAAACCGAACAAGCAGAACAGATGCCTCATTTTGCTTACAAAACTGCTTTGAGAATTGGGACGTGGCTACACCCCACGAAGTACATCCCTCTGAATTTCACCCACATCAGAACCCAGAGCCCAGGAGATACTCACATTTGGACGGTTTCCAAAGGCAGCATAGAAGGGCTGCTTAGACGGGGCAAACAGATTCTTGATATCATTTAGACACTCAATTTTGAACTTCTCTGGTTTCTTTTCTATCACTTCTCTAAGAAAAAAATACAAATACAATCACCAATCTCAAAATGGTCGTTTTCCCCAGTGAGTGGTCCTAAAATTTTAGTGCTCACAACCACCCAATTTCTTCAACCCTTTGTAACTGGAATCTTTCCTTCTCCTTCTTTGCCAGTCTGATAACTAAGAAAATTTGAGTGATGAAGTTTAGGGAAGGAGAAAACTTGACGGTTCCTAGAACCTGCCTTTCTTCACCAGGCCCGCCACATGGCAAGTGAGCAGTATGTGGTAGGACACCACCAGGGACCAAAGAACTGGGAGAGGCGTGGCGGCTCCAACATCTGACTTCTGTTCCCACACATCCCCCCACCTTGGGCCCAGCCCCGCCCACATGCTGGGGCGGTGGGCAGAGGGCTGCCTGCCGGAGAGGTACCTGTGGAAGGCGGAGAACAAGCTGCTGGGGGACAGCATCAGGGGGCCCCGGGGCAAGATTGTGCCCTTGTCATTGACCCAGTGCAGGTAGCCACGGGTCATGTCGGCCATGCCGATGGCACGAGCCGAGCAGTACAGAAACTTGTAGCCATTCCTGAAAGAAAACACACCCTGTTAGCCCACATGTTCTGGCTAAGGGAAAAGAAAACAAAAAACAAAAAAAAAACCCCACACTTTTCTTTCTTTTTTTTTTGAGTCTCACTCTGTTACCCAGGCTGGAGTGCTGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGGGACACCATGCCCGGCTTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGATTGGTCTTAAGCTCCTAACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTCAACCCATACTTTTCTTTTAAAAGATCCAAATAAACTTCCTCTCATTTACTGTGAAAACCAAATTCTCAAATTTAGCAGGAAACTGCTTAGGATTATAGAGGTTTCACCTTCCATGGAAAACGTGGGAAAAAAATGGAGGTACAGGCAACTAAGGATTATGTTAAGTTTGTAAGTACTGATATAAAATGTTCAGCATCTAGTCCATGAAAGCCAGATTAGAGGACAGAAAAAACCTTGGACTATCTTTAAATTACCCACTGTGAAGAAAAAATATAGGGGATATTATTTATAAAGGCAATGTGCAAGATGCAAACCACTCCATCAGACAAGAAGCAAAATTATACCCAGGTAACTGACATATTCGTAATTTTCATATTATGGTATTCTCAACTAATGCTGAAGACACTGAGATTCTTCAGATCAATGTAATATATGTATTAGGAACCCACAAACGCCATGGCACGGCTATCTTCCCCTCAAAGGGTGCCCCAAGAGAGAGCAGCCCATGCAAGAACTATTTCCCTCATGCATGCGTGCACTATCTACTCAAAGAAATACAATTTTAAGGCTGGGCGCAATAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGATCACCTGAGGTTCGGAGTTCAAGACCAGCCTGACCAACATGATGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCATGGTGGCATGTGCCGGTAATCCCAGCTACTCGGGAGACTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGACTGCAGTGAGCCAAGGTCGCGCCATTGCACTTCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAATACCCAGAAAATAAACCAAAAATGAAAATCAGCTATCTTATTAAATTCTAGCTAAAAAAATAACTGTCATTCTAGTTATAGATGTAGGTAGTGCCTGAAACACAGCACTGTGAGGATTAACTGAGATGACACAGGTTCGATGCCAATGCCAGGTGCACACGGCTCCCACACCATCAACAGGAAAGGAGTGAGGAAGAGCGGGAATGCTTCAGCATAAACACATGACTCATGTGGACTGAAGACTTAC | ACTAAGAAATTAAGGGCTCGTGGAGTTGTCACAGATGAGAGGAGGATGCTCTGTGGGGATCTTTCCCCAAAGAGGGCCAGGTTTATGGGACTGGGCTCAGTGGCTCTGGTGCATGGGCCCTGCAGGGGCGGGGGTCCTGCCCAACTTGGCCCACTGGAGCAGCTGACCCCTTCAGTGTAGCAGGAAATGAGGCGACCAGAGAAGAAACGTGCACAGGCAGCTTCAGCCAGCATCACTGACTGGGCCCGCAGCAGTTCAGGGACCCTGACATCTGAAGACAGCCCTGGTTACAGAAGCCACCTCAACTGCCCAGTGGAAACTGGAACACTTCACTGTGTGCAGTGTTTTGGTCCACTCTTTTTTAGCTGCTTTTTTCTTCCTTTAAAATGATGCAATGGAAGGAGGCCCCAGCTCACAGCAGGAAACATGTGTGCGACCCACAAAGGAGGGATCCCAGGCCTCCAGCCCCAGGCCCAGTTCCTCCCTTCTCCTTCCAGGAGCTGAGCTGCAGACCTGCCGAGCCTGAGCAGCTGGCCTGGGAAGGCAAAGGAGGATGGCGGGACCAGCTCCAGAAGCACCCGTCCCCGCTGGGGAAGGCTGGTATCTGAGGTCAGCAGAAGAGCCAGCTGCCTTCCCTTGCTGTGGGGAGGGGGACCAAGCCCTGCCCACCCACTGAGGTGCCGCCTCAAGACAGGTCATCCAGGTCCACTTCAGGGATCGGGTCTCGCCAGTAGCAGAAGGAGCTGAACTCCGGGCAGGGAAAAGCGGAATTCTGCTCCTTACTGAGAAGGGGGAACACATGCTCCACGAGCTCACTCAGCCTGTGATACCTAAGAGAAAGGTTGGGGAAGAGGCACAGGCTATTACTTCAAGATCGGTCAAAGGCACAAGATGGGGGGCTGTGAAGCTGTCACTCAGATTGCTCAGGTGGGCAGGTTCAGAGGCAGGCCTCAGTCCCATCACAGGGCTCAAACTCCCTCTTACAAGTCTAGGATAACCAGAGACCCCTCAAACAGATATTGTGAAAGAGAGATACCCACAGAGGAGATGTAGCTGATCCTTTGATCAGGGCCTGATCTCAAGGATCAGGGGGAAAAGGACAGGGTCTGTCTGTCCCCAACTGTACCCCTGGCTGCAGGGCGCCGGGCTGAGAGCTGAGAATGTACTTACGATGACTTGTTTCCTTTGGTTCTTTCTTGTATTAATTCACCCTTGGGGTTCACGGTGAATATTCTACAGTCTGGAACTCCAACTTGTGTGTAGGCATAGACATCCTGCAGAAGAAAATAGCAAGCGGGTGATTCCAGGGAGGAGAATTCAGGAGATACTTCTCAGGCTCCTTGTGAGCCAGAAGCACTGCACAGACAGACTCGACAGAAAACATGCGGAGGCGGCACAGTGCAGTTGCCACCAAAACTGAGCTTTAGACAAACCTAAACTACAGAGTGGTGCTTGGAGAGTCAGAAAACTTGGGCAGCCACCAAGGGGAAGCCAGGGTCCCTGGCGCAGAAGAGGCCAGAGAGGCCACATCTTCTGCACACCTGAGGCCCGATGGCCCTGCAGAAGGGAGGCAGGTTGGGAAGTGCTAGCGAAGGGCCAGCACTGACCCTGGCTCTGGGGTGATCCAAGGACGCAGCTCAGAACTGCTTAGAAGAGGAGCCGGAGCTGCCTGAGGAAATGGAATGGCAGCCACAGAAACGATGGAAAAGCGTCCTTCGTATAAATTCTGGGGCAGATCTGCACCTGCAGGACCTCCCCAGTTGCTATAGATATTTGGAATAGATCAAGTGAAAACCGAACAAGCAGAACAGATGCCTCATTTTGCTTACAAAACTGCTTTGAGAATTGGGACGTGGCTACACCCCACGAAGTACATCCCTCTGAATTTCACCCACATCAGAACCCAGAGCCCAGGAGATACTCACATTTGGACGGTTTCCAAAGGCAGCATAGAAGGGCTGCTTAGACGGGGCAAACAGATTCTTGATATCATTTAGACACTCAATTTTGAACTTCTCTGGTTTCTTTTCTATCACTTCTCTAAGAAAAAAATACAATCACCAATCTCAAAATGGTCGTTTTCCCCAGTGAGTGGTCCTAAAATTTTAGTGCTCACAACCACCCAATTTCTTCAACCCTTTGTAACTGGAATCTTTCCTTCTCCTTCTTTGCCAGTCTGATAACTAAGAAAATTTGAGTGATGAAGTTTAGGGAAGGAGAAAACTTGACGGTTCCTAGAACCTGCCTTTCTTCACCAGGCCCGCCACATGGCAAGTGAGCAGTATGTGGTAGGACACCACCAGGGACCAAAGAACTGGGAGAGGCGTGGCGGCTCCAACATCTGACTTCTGTTCCCACACATCCCCCCACCTTGGGCCCAGCCCCGCCCACATGCTGGGGCGGTGGGCAGAGGGCTGCCTGCCGGAGAGGTACCTGTGGAAGGCGGAGAACAAGCTGCTGGGGGACAGCATCAGGGGGCCCCGGGGCAAGATTGTGCCCTTGTCATTGACCCAGTGCAGGTAGCCACGGGTCATGTCGGCCATGCCGATGGCACGAGCCGAGCAGTACAGAAACTTGTAGCCATTCCTGAAAGAAAACACACCCTGTTAGCCCACATGTTCTGGCTAAGGGAAAAGAAAACAAAAAACAAAAAAAAAACCCCACACTTTTCTTTCTTTTTTTTTTGAGTCTCACTCTGTTACCCAGGCTGGAGTGCTGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGGGACACCATGCCCGGCTTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGATTGGTCTTAAGCTCCTAACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTCAACCCATACTTTTCTTTTAAAAGATCCAAATAAACTTCCTCTCATTTACTGTGAAAACCAAATTCTCAAATTTAGCAGGAAACTGCTTAGGATTATAGAGGTTTCACCTTCCATGGAAAACGTGGGAAAAAAATGGAGGTACAGGCAACTAAGGATTATGTTAAGTTTGTAAGTACTGATATAAAATGTTCAGCATCTAGTCCATGAAAGCCAGATTAGAGGACAGAAAAAACCTTGGACTATCTTTAAATTACCCACTGTGAAGAAAAAATATAGGGGATATTATTTATAAAGGCAATGTGCAAGATGCAAACCACTCCATCAGACAAGAAGCAAAATTATACCCAGGTAACTGACATATTCGTAATTTTCATATTATGGTATTCTCAACTAATGCTGAAGACACTGAGATTCTTCAGATCAATGTAATATATGTATTAGGAACCCACAAACGCCATGGCACGGCTATCTTCCCCTCAAAGGGTGCCCCAAGAGAGAGCAGCCCATGCAAGAACTATTTCCCTCATGCATGCGTGCACTATCTACTCAAAGAAATACAATTTTAAGGCTGGGCGCAATAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGATCACCTGAGGTTCGGAGTTCAAGACCAGCCTGACCAACATGATGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCATGGTGGCATGTGCCGGTAATCCCAGCTACTCGGGAGACTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGACTGCAGTGAGCCAAGGTCGCGCCATTGCACTTCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAATACCCAGAAAATAAACCAAAAATGAAAATCAGCTATCTTATTAAATTCTAGCTAAAAAAATAACTGTCATTCTAGTTATAGATGTAGGTAGTGCCTGAAACACAGCACTGTGAGGATTAACTGAGATGACACAGGTTCGATGCCAATGCCAGGTGCACACGGCTCCCACACCATCAACAGGAAAGGAGTGAGGAAGAGCGGGAATGCTTCAGCATAAACACATGACTCATGTGGACTGAAGACTTACNNNNNN | benign | 286,901 |
The chromosome 18, position 2923757 genetic variant in gene LPIN2 (lipin 2): benign or pathogenic? If pathogenic, indicate disease(s). | benign | TCCTAAAATTTTAGTGCTCACAACCACCCAATTTCTTCAACCCTTTGTAACTGGAATCTTTCCTTCTCCTTCTTTGCCAGTCTGATAACTAAGAAAATTTGAGTGATGAAGTTTAGGGAAGGAGAAAACTTGACGGTTCCTAGAACCTGCCTTTCTTCACCAGGCCCGCCACATGGCAAGTGAGCAGTATGTGGTAGGACACCACCAGGGACCAAAGAACTGGGAGAGGCGTGGCGGCTCCAACATCTGACTTCTGTTCCCACACATCCCCCCACCTTGGGCCCAGCCCCGCCCACATGCTGGGGCGGTGGGCAGAGGGCTGCCTGCCGGAGAGGTACCTGTGGAAGGCGGAGAACAAGCTGCTGGGGGACAGCATCAGGGGGCCCCGGGGCAAGATTGTGCCCTTGTCATTGACCCAGTGCAGGTAGCCACGGGTCATGTCGGCCATGCCGATGGCACGAGCCGAGCAGTACAGAAACTTGTAGCCATTCCTGAAAGAAAACACACCCTGTTAGCCCACATGTTCTGGCTAAGGGAAAAGAAAACAAAAAACAAAAAAAAAACCCCACACTTTTCTTTCTTTTTTTTTTGAGTCTCACTCTGTTACCCAGGCTGGAGTGCTGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGGGACACCATGCCCGGCTTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGATTGGTCTTAAGCTCCTAACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTCAACCCATACTTTTCTTTTAAAAGATCCAAATAAACTTCCTCTCATTTACTGTGAAAACCAAATTCTCAAATTTAGCAGGAAACTGCTTAGGATTATAGAGGTTTCACCTTCCATGGAAAACGTGGGAAAAAAATGGAGGTACAGGCAACTAAGGATTATGTTAAGTTTGTAAGTACTGATATAAAATGTTCAGCATCTAGTCCATGAAAGCCAGATTAGAGGACAGAAAAAACCTTGGACTATCTTTAAATTACCCACTGTGAAGAAAAAATATAGGGGATATTATTTATAAAGGCAATGTGCAAGATGCAAACCACTCCATCAGACAAGAAGCAAAATTATACCCAGGTAACTGACATATTCGTAATTTTCATATTATGGTATTCTCAACTAATGCTGAAGACACTGAGATTCTTCAGATCAATGTAATATATGTATTAGGAACCCACAAACGCCATGGCACGGCTATCTTCCCCTCAAAGGGTGCCCCAAGAGAGAGCAGCCCATGCAAGAACTATTTCCCTCATGCATGCGTGCACTATCTACTCAAAGAAATACAATTTTAAGGCTGGGCGCAATAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGATCACCTGAGGTTCGGAGTTCAAGACCAGCCTGACCAACATGATGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCATGGTGGCATGTGCCGGTAATCCCAGCTACTCGGGAGACTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGACTGCAGTGAGCCAAGGTCGCGCCATTGCACTTCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAATACCCAGAAAATAAACCAAAAATGAAAATCAGCTATCTTATTAAATTCTAGCTAAAAAAATAACTGTCATTCTAGTTATAGATGTAGGTAGTGCCTGAAACACAGCACTGTGAGGATTAACTGAGATGACACAGGTTCGATGCCAATGCCAGGTGCACACGGCTCCCACACCATCAACAGGAAAGGAGTGAGGAAGAGCGGGAATGCTTCAGCATAAACACATGACTCATGTGGACTGAAGACTTACACCATTGTTCTATAGTTCTTAAAGCAAGCTTCCAGCTCACCAGAGCGAGTTAACGTGGGGAGGGTACCTACTCATTGATGGAATGGTAGAGCTTTGCTATACCCTGGTGGGTCCAGTCTTTGCCCAGCTGTGGGAGAATCTGTCCCAAAGCATCCGACCTAAGAAGACGGTAGAAACAGGAAAAGCTATCAGGAATCAAACACATACAGCGTTTTCCTATTTGGTTGACTATCAGCTGCCAATAACTAATTGGTGGCGGGACACTCTTGAAAGGGGATTTAATCACAGCTTCAAGCAACTGCAAGGCCATCCCATGCAAACGCACCCACTGAGGTGCTTCTGAAAGCGGAGTCTCACGAGCGCCAGATGTGTGTGTTCGGAGGTAACTGACTGCCACACTTTCTCTTTTCCTCCGCCCCAATGTCAAGGGGCTTGTTTTCATATCAGAATTGAAACCAAATAACTAATCTTTCCAAAAGTGATTTTTGACATTTGTTATGCACCCTCACCATCTCCTCCATGCAAAAAAATGACCCCATGTGGACTGTACTGGGGACGCCTCAGAGCATATGGCTTATAAAATGCCTTGGCTGAGGGCTTCGAGCCCCAGGTGAGGAACTCCCCACCACACACTGCCTGCCCCTCCCTGAGCACGGGGCTGTTCCTTGCCACCCACCTGAAGGATTGAGCTTACTTGGTTATTGTCCCATCAATATCAGAAATGATGATCTTGTCATTCCAGTTCCACAGGTAAATGGTCCCTGCACAGCGACAGGTGCCTTGATACTGGGTTGTAATACTAAACACAACATCATTTGGGCCATCGTGGAGCTTCAGTTTTGCCTTTTAAAAAAGCATAAGAATAAAGAAAATCAGCTGAAAACATAGTTTGAAACGATTTAAAAATTTACAGAACAACTGGTGTCTCGGAATCCCAACAAGAGGCAGGATGGTTTCCGGGGTCTTAGACACAGCCCACCCTGTGCCCAGCGCAGCTGACAATGCTGAGGGAGCCACTGCCTGAACAGTATTTTGGGGTTCCAGGGACTTCTCTGAACACCCACAAAGCAAAAGGTCTACTACTCTTACTCCACACCTGAGAATTACTGCTTTAGCCACAGCCTGCTCTGGTCCCAGCAAGACCTTTTCATACCGAAAATGGGTCAAAGGCAGGGTGTAAAATAAGAGGAGAAATTGTGTCTAAAATGTCATTTCTCTATTGCTGTGGCTCCTAAGAGACAGTACCTGGCTCAGCGCTGGGTTAGCTGTGTACGACTGACTCTCAAGAGATGGAGGAAGGAGGTCTGGGGTGGGTGGCAGGACCCAAGCCACAGGTTCCCCAGGTGGGCCTGATAGCTCTTGGGGGCGGCGGTCGTGGTTCCACTGTGGATAGGCATTGACACGACCATGCCGTGTGGCGTGTATGCAGCTGGGGACGTGTGGACAGAAGAGGATGTGCATCAAATTAAACCATTACTAAAATAAGTCCTACTGGACAACACAGATCATGCAAGACTCACGATCTGGTCTGAGGAGAGGCGGAGAGACTTCTTATATGAAGTTGTGCTGCCGTGGCTCAGGGGCTCTGTGGGGATGGGGTCCACTGTGATGGATTCTTCGAGCTCCTGTGATCCCTCGTCACTCGAGGAGTCATTCTCGGCCGGCCTGTTCAACATTAGCCCAGTTACGGAAGAGGCAGCAGGGCATTTTATTGATGAGAGCTTTTCATTTAGGATCAAGAAAATAAAGATATCCTAAATCTTTTCTAGGAATGGGTAGAGTTATCCCTTCTGCCATTCTCCCATATCCACAGCTCTGTACGCCTGAAATATTCATATTGTTAACTGATAAGGCCACTTTCATAACTGGCAAGCACTTACTTTCTGACTATGACCTGCTATTTTCTGCTATGCCCAGTGAATGCTAGAAGGTCTACTGACTCTTGTTGAAGAGGGTATGTATGTTTCACAAGGCACAAATCAAAGAAAACATAATCGCTTACAATGATTTAACAAACTCCGGCTGGGTGCGGTGCCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGTTAGGAGGACACCTTGAGCCCAGGAGTTTG | TCCTAAAATTTTAGTGCTCACAACCACCCAATTTCTTCAACCCTTTGTAACTGGAATCTTTCCTTCTCCTTCTTTGCCAGTCTGATAACTAAGAAAATTTGAGTGATGAAGTTTAGGGAAGGAGAAAACTTGACGGTTCCTAGAACCTGCCTTTCTTCACCAGGCCCGCCACATGGCAAGTGAGCAGTATGTGGTAGGACACCACCAGGGACCAAAGAACTGGGAGAGGCGTGGCGGCTCCAACATCTGACTTCTGTTCCCACACATCCCCCCACCTTGGGCCCAGCCCCGCCCACATGCTGGGGCGGTGGGCAGAGGGCTGCCTGCCGGAGAGGTACCTGTGGAAGGCGGAGAACAAGCTGCTGGGGGACAGCATCAGGGGGCCCCGGGGCAAGATTGTGCCCTTGTCATTGACCCAGTGCAGGTAGCCACGGGTCATGTCGGCCATGCCGATGGCACGAGCCGAGCAGTACAGAAACTTGTAGCCATTCCTGAAAGAAAACACACCCTGTTAGCCCACATGTTCTGGCTAAGGGAAAAGAAAACAAAAAACAAAAAAAAAACCCCACACTTTTCTTTCTTTTTTTTTTGAGTCTCACTCTGTTACCCAGGCTGGAGTGCTGTGGCGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGCATGGGACACCATGCCCGGCTTAATTTTTATATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGATTGGTCTTAAGCTCCTAACCTCAGGCAACCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCTCAACCCATACTTTTCTTTTAAAAGATCCAAATAAACTTCCTCTCATTTACTGTGAAAACCAAATTCTCAAATTTAGCAGGAAACTGCTTAGGATTATAGAGGTTTCACCTTCCATGGAAAACGTGGGAAAAAAATGGAGGTACAGGCAACTAAGGATTATGTTAAGTTTGTAAGTACTGATATAAAATGTTCAGCATCTAGTCCATGAAAGCCAGATTAGAGGACAGAAAAAACCTTGGACTATCTTTAAATTACCCACTGTGAAGAAAAAATATAGGGGATATTATTTATAAAGGCAATGTGCAAGATGCAAACCACTCCATCAGACAAGAAGCAAAATTATACCCAGGTAACTGACATATTCGTAATTTTCATATTATGGTATTCTCAACTAATGCTGAAGACACTGAGATTCTTCAGATCAATGTAATATATGTATTAGGAACCCACAAACGCCATGGCACGGCTATCTTCCCCTCAAAGGGTGCCCCAAGAGAGAGCAGCCCATGCAAGAACTATTTCCCTCATGCATGCGTGCACTATCTACTCAAAGAAATACAATTTTAAGGCTGGGCGCAATAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGATCACCTGAGGTTCGGAGTTCAAGACCAGCCTGACCAACATGATGAAACCCCATCTGTACTAAAAATACAAAATTAGCTGGGCATGGTGGCATGTGCCGGTAATCCCAGCTACTCGGGAGACTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGGAGACTGCAGTGAGCCAAGGTCGCGCCATTGCACTTCAGCCTGGGCGACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAATACCCAGAAAATAAACCAAAAATGAAAATCAGCTATCTTATTAAATTCTAGCTAAAAAAATAACTGTCATTCTAGTTATAGATGTAGGTAGTGCCTGAAACACAGCACTGTGAGGATTAACTGAGATGACACAGGTTCGATGCCAATGCCAGGTGCACACGGCTCCCACACCATCAACAGGAAAGGAGTGAGGAAGAGCGGGAATGCTTCAGCATAAACACATGACTCATGTGGACTGAAGACTTACACCATTGTTCTATAGTTCTTAAAGCAAGCTTCCAGCTCACCAGAGCGAGTTAACATGTGGGGAGGGTACCTACTCATTGATGGAATGGTAGAGCTTTGCTATACCCTGGTGGGTCCAGTCTTTGCCCAGCTGTGGGAGAATCTGTCCCAAAGCATCCGACCTAAGAAGACGGTAGAAACAGGAAAAGCTATCAGGAATCAAACACATACAGCGTTTTCCTATTTGGTTGACTATCAGCTGCCAATAACTAATTGGTGGCGGGACACTCTTGAAAGGGGATTTAATCACAGCTTCAAGCAACTGCAAGGCCATCCCATGCAAACGCACCCACTGAGGTGCTTCTGAAAGCGGAGTCTCACGAGCGCCAGATGTGTGTGTTCGGAGGTAACTGACTGCCACACTTTCTCTTTTCCTCCGCCCCAATGTCAAGGGGCTTGTTTTCATATCAGAATTGAAACCAAATAACTAATCTTTCCAAAAGTGATTTTTGACATTTGTTATGCACCCTCACCATCTCCTCCATGCAAAAAAATGACCCCATGTGGACTGTACTGGGGACGCCTCAGAGCATATGGCTTATAAAATGCCTTGGCTGAGGGCTTCGAGCCCCAGGTGAGGAACTCCCCACCACACACTGCCTGCCCCTCCCTGAGCACGGGGCTGTTCCTTGCCACCCACCTGAAGGATTGAGCTTACTTGGTTATTGTCCCATCAATATCAGAAATGATGATCTTGTCATTCCAGTTCCACAGGTAAATGGTCCCTGCACAGCGACAGGTGCCTTGATACTGGGTTGTAATACTAAACACAACATCATTTGGGCCATCGTGGAGCTTCAGTTTTGCCTTTTAAAAAAGCATAAGAATAAAGAAAATCAGCTGAAAACATAGTTTGAAACGATTTAAAAATTTACAGAACAACTGGTGTCTCGGAATCCCAACAAGAGGCAGGATGGTTTCCGGGGTCTTAGACACAGCCCACCCTGTGCCCAGCGCAGCTGACAATGCTGAGGGAGCCACTGCCTGAACAGTATTTTGGGGTTCCAGGGACTTCTCTGAACACCCACAAAGCAAAAGGTCTACTACTCTTACTCCACACCTGAGAATTACTGCTTTAGCCACAGCCTGCTCTGGTCCCAGCAAGACCTTTTCATACCGAAAATGGGTCAAAGGCAGGGTGTAAAATAAGAGGAGAAATTGTGTCTAAAATGTCATTTCTCTATTGCTGTGGCTCCTAAGAGACAGTACCTGGCTCAGCGCTGGGTTAGCTGTGTACGACTGACTCTCAAGAGATGGAGGAAGGAGGTCTGGGGTGGGTGGCAGGACCCAAGCCACAGGTTCCCCAGGTGGGCCTGATAGCTCTTGGGGGCGGCGGTCGTGGTTCCACTGTGGATAGGCATTGACACGACCATGCCGTGTGGCGTGTATGCAGCTGGGGACGTGTGGACAGAAGAGGATGTGCATCAAATTAAACCATTACTAAAATAAGTCCTACTGGACAACACAGATCATGCAAGACTCACGATCTGGTCTGAGGAGAGGCGGAGAGACTTCTTATATGAAGTTGTGCTGCCGTGGCTCAGGGGCTCTGTGGGGATGGGGTCCACTGTGATGGATTCTTCGAGCTCCTGTGATCCCTCGTCACTCGAGGAGTCATTCTCGGCCGGCCTGTTCAACATTAGCCCAGTTACGGAAGAGGCAGCAGGGCATTTTATTGATGAGAGCTTTTCATTTAGGATCAAGAAAATAAAGATATCCTAAATCTTTTCTAGGAATGGGTAGAGTTATCCCTTCTGCCATTCTCCCATATCCACAGCTCTGTACGCCTGAAATATTCATATTGTTAACTGATAAGGCCACTTTCATAACTGGCAAGCACTTACTTTCTGACTATGACCTGCTATTTTCTGCTATGCCCAGTGAATGCTAGAAGGTCTACTGACTCTTGTTGAAGAGGGTATGTATGTTTCACAAGGCACAAATCAAAGAAAACATAATCGCTTACAATGATTTAACAAACTCCGGCTGGGTGCGGTGCCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGTTAGGAGGACACCTTGAGCCCAGGAGTT | benign | 286,911 |
Considering the genetic mutation at chromosome 18, position 2934413, impacting LPIN2 (lipin 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autoinflammatory_syndrome', 'Majeed_syndrome'] | TCTTTGAGCAGTAGGTGGCAGCAGACTACAGATTATGTTTTAACTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAGCACATGACTGAGCCGTGAATATGGACGGAAGGCATACATGGTGCCCCTCCCCAGGGGCCCTCTCCTATGCGATGCTCATTCCTTTCTCTGCTGCCAGTAAACTCTGGACTCTGAGACCCTATGGGGATGGGAGAGCCTCAAGGTGAAAGGAGCCTGTGTTCCTGAATCCCTGTGGGCAAGGCCTCCCCCTAAACACCAACACAGAGCATTCTTCACAGGGGCAAGAAACAAAATTCCATCGTGGTAGGCCAACGAGATCAGGAGTTCCACCTCTACAGCAGCTAGTGTTACCCCAACCAGTAACAACAACATCTACACACATGGGGATGCCGTCTGACTCAGGATGCCACCAAATACAAAAGTGTGTGATTTATATTAAAGTTTAGTGATAATTACAAATACTGTAAATTTGGTAATGAAGATGCTAAGGATCATGACATGACTAATGCTTACATGGATTACAAGAGTCTCACTCACTATCTTTAAATATTTATGAAATGTTTCAAGAAATAGTTAATGAGGTAAGAAGCTTACTTAGTGCATGGACAGTGACTGTGAACAGTTAAATTACAGTAGAGTGGAGTAAGGTATCATCACCTTAGTTACTCTCCTCACTTTTTAAAAGAGAAACTAAGACATATACCGAAGGAATACCAATATAAATAAATGATTAAGGCCTGGGAAATGTGGGGGGAAAAGTGGTAATTCTATGACAGCTTATATTTGAACTTTCCTACTGTTAAAATAAAGCCGTTTCAGTTTTTTCACCTTAAAAAAATCCAACTATTACTTCAAATGAAGTAGATATGTTGAGATAAATTTAGGACAGAGCTAGAAAGGAGTTTTAAGAACTTTCCCAAAATACCTGTAAAAAATTTAAATAGCTTTATATCAATCCCATCTTTCTATTCCAAATAAAAAACAAAATATACTTTTCAGTAATTCATTTACAAGTGTTTAATTATGTGTGCCTATGGCTCAGTATATTCAAGTCATACTTTCCGTGGAGAAAAGTTGTTTTTTTCTAACCACAGAGTAGCAGTTTAACAGAATTCCCCTAAGAGTAGAAATGAACTTGGGAAGGCAGTCCAAGTGTATCATATTTGAGGCCCATATTTGAAGTAATTCAAAGGGAAAATGGTGCGGGACAGTGAGGGAGGCTGGGTGGCAGCTGTGGAGCTGCAGGGGATGTGGGGACACGGGGCGCGGGGGCAGTGCCCCACCAGACCCAGACCCGGTTCAGAAAAGGCTCAGGATCTCAGACTCCCAAGAAGTGAACACATTCTTTGGAAAACATTTTCAAATAAAGATGTGTTTCTTTTAAAACACATAATAAAATAAATGCTAAAAAATTTTCCCAAGCATGTTGAGTTTGTATTAACCACTACAGGAAATGCTAATCAGAAGTCATATACCCTTATGTAGGTTTAACTAGTATATCTCTCCTCATTGTATTGAAAATGTCTTCGTAAGTAATTATTAATTTCAAGTCACTATATTGAAATAAGACACGCGCTATTTCTAAATTTTCCAAAACCTGAAGCCATCATCAGATTTAGCTAAAGGACACCATCATCTTGTTCCTTTTTCCTGAGATGAAATGTTTTACTCTAGAAATAACTAGACTATTTCAGAGCTGTCCTTCAATAAATAAGGACCACTCTACCTTTTAGGGAAATAAAGAGCTGCAACTTCAGGTTCTAGACCCTTTAAGTCATCAAGGTAAATATCATCAGGTCCCTGGTGTTGGCTTCTTTTGTGAACACCTGTTTAAAAAAAAAATCAGAGGTAAGAATTTAGTTATTCTTCATTTACAGCTCTGCAAAACACACGCACGTTTGCAAACAGTAAGAGTGACAAGCAGGATTTGAATAGGGTTTTAATTTTAAAGGTGTCAACCAGCCTTTTTACTTAGGTTGGTTCCCAGCCATCCATGCCAATAGAAGAGAAGTTCAGTGCTCCATACATATACTTTGATTTTACTCATTCTCTCATTTGCTGTTAATTGAGTAATACTAGCCCCTAAATAATTTATATTTTAATGGTGAAGTCTTTTTTGTATTTATAGGTCTAAGAACAAGCATGACCAAACTTAAGGCAACCACCTGCATTGGGAACGAGGGCATTACTCTAAAACCATGAAGGCAAGGTTGTCTGGGCACAGGATATTCACATGGTGCCCAAGTATCCACCCTGCATTACCTTCTAACTACAAAAGGACAAAAAATACTTCACAATGGATAGATGTGGCAGATAACATCTTAAACAATAATCACGTTCAGCATTACTATTAGTGGTCATCATGAGATACAATATGAGTACCCAATACATGCAATAAACTAATCTTCAATTCAAACAATAACTCTAAGCCTCTAGACCTGTACTGCCCACTCTAGTGACCACCAGCCACATGTGGCTACTGAGCATTTAAACTGTTGCTAAAGTGAGGTACACAAAATGTTAAAAATGCGTAAAACACACTAAGATACTTCCTTAATAATTTTATATTGATTACATATTAAAATTATATTTTGGATTTATTGGCTTAGATGAAATATATCACTAAACTTAATTTCACCTTATTTTACTTCCTTAAAAGTGGCAATGAGATGATTCAAAATTACACATGTGATTCATATTCCATTTCTAGTGGACAGTAAGTTCTAGAGCTAACTCCCAGTTAAGAAAATATAGGAATGTCACCTTCAAAAAAACAATCAGACAAATCCAGAACGTGAGAGAGCCTAGAAGACACTGGCTGAGCTCTTTAAAAGGTTACTATCACGGGTGTAGAGAGGGCATGAGGGTGTGGATGGGTGTAGGAGAGAGAGTTCTAAAATAAAAAAGATTACAAGAAACATAAAAATCAAATGCAACATGTGAAACCTGATGCAATTTTGGCTTGGGAAACAGGCCAGCTAAAAAAATATTCTTGGTACAATTAGGGAAATGTAAACATGAATTCTTCAAGATGACAATAGTACTGGGGCTATGCAGAGAATGTTCACATTCTTAGAAGGTATATCCTGGCATATCTAAGAGTGAAATGTCATGCCTGCAATTTGTTTTCAAATGTTTTATTAATAAAACACTGTATGTGGATGAATGGAGAGATGTAGGGAGAGAGGGGTTGAGGAGAGAGGGAGGGCAAAAATGTATAATAAAAAGTAGAGGGGAAAAAGAATGAGGCCAAAAGAATAGTAAAAACCACTCAGGGTTCCTGTCTCTAGTCAGATCCTGCACTGTGTGCTAAGAACAGGAGTCATTAGTTCCAAAAACAAAGCATTCATCCTAAAAGAACTGGATTTCCCCCCTTAACATTTCTTAGAGCATAACAAGTGGCTACAGGCCTTTGGTGGAAGAGCAGGTGCCAAGTTAAGCCACCATTCGCTAGATGGTTTTATCTGACCACCAACACCTTCGACAGTCACATTCTTTCATTTTAGATAAATTATTTCTGAGTGAACTTGAAGGTCCATACCTAATATATATTAAGTTGGTTTATAATTACCTAATCTTTGGTGCTAGAATTTTTTTTTAATTGAAATAGGTAATTGGCTATATATGATGTTGGGTAATTTTAGAGAAGGTTTCACACTTTCCTAAAAATAGGATCCAAGGCCAGAGTTCAGAATATGTATGTTCTGACCCACTGTACCAAGTATCGATGGTTGGCTTTTTATTTTCAAATAGTAAGGATGTTCTGATTTATTAAACTTGTGTTCCAAAAGTGAGGAAGAACTGTTGAACCAAGAGTTGGATGTTTTCTCTACTTA | TCTTTGAGCAGTAGGTGGCAGCAGACTACAGATTATGTTTTAACTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAGCACATGACTGAGCCGTGAATATGGACGGAAGGCATACATGGTGCCCCTCCCCAGGGGCCCTCTCCTATGCGATGCTCATTCCTTTCTCTGCTGCCAGTAAACTCTGGACTCTGAGACCCTATGGGGATGGGAGAGCCTCAAGGTGAAAGGAGCCTGTGTTCCTGAATCCCTGTGGGCAAGGCCTCCCCCTAAACACCAACACAGAGCATTCTTCACAGGGGCAAGAAACAAAATTCCATCGTGGTAGGCCAACGAGATCAGGAGTTCCACCTCTACAGCAGCTAGTGTTACCCCAACCAGTAACAACAACATCTACACACATGGGGATGCCGTCTGACTCAGGATGCCACCAAATACAAAAGTGTGTGATTTATATTAAAGTTTAGTGATAATTACAAATACTGTAAATTTGGTAATGAAGATGCTAAGGATCATGACATGACTAATGCTTACATGGATTACAAGAGTCTCACTCACTATCTTTAAATATTTATGAAATGTTTCAAGAAATAGTTAATGAGGTAAGAAGCTTACTTAGTGCATGGACAGTGACTGTGAACAGTTAAATTACAGTAGAGTGGAGTAAGGTATCATCACCTTAGTTACTCTCCTCACTTTTTAAAAGAGAAACTAAGACATATACCGAAGGAATACCAATATAAATAAATGATTAAGGCCTGGGAAATGTGGGGGGAAAAGTGGTAATTCTATGACAGCTTATATTTGAACTTTCCTACTGTTAAAATAAAGCCGTTTCAGTTTTTTCACCTTAAAAAAATCCAACTATTACTTCAAATGAAGTAGATATGTTGAGATAAATTTAGGACAGAGCTAGAAAGGAGTTTTAAGAACTTTCCCAAAATACCTGTAAAAAATTTAAATAGCTTTATATCAATCCCATCTTTCTATTCCAAATAAAAAACAAAATATACTTTTCAGTAATTCATTTACAAGTGTTTAATTATGTGTGCCTATGGCTCAGTATATTCAAGTCATACTTTCCGTGGAGAAAAGTTGTTTTTTTCTAACCACAGAGTAGCAGTTTAACAGAATTCCCCTAAGAGTAGAAATGAACTTGGGAAGGCAGTCCAAGTGTATCATATTTGAGGCCCATATTTGAAGTAATTCAAAGGGAAAATGGTGCGGGACAGTGAGGGAGGCTGGGTGGCAGCTGTGGAGCTGCAGGGGATGTGGGGACACGGGGCGCGGGGGCAGTGCCCCACCAGACCCAGACCCGGTTCAGAAAAGGCTCAGGATCTCAGACTCCCAAGAAGTGAACACATTCTTTGGAAAACATTTTCAAATAAAGATGTGTTTCTTTTAAAACACATAATAAAATAAATGCTAAAAAATTTTCCCAAGCATGTTGAGTTTGTATTAACCACTACAGGAAATGCTAATCAGAAGTCATATACCCTTATGTAGGTTTAACTAGTATATCTCTCCTCATTGTATTGAAAATGTCTTCGTAAGTAATTATTAATTTCAAGTCACTATATTGAAATAAGACACGCGCTATTTCTAAATTTTCCAAAACCTGAAGCCATCATCAGATTTAGCTAAAGGACACCATCATCTTGTTCCTTTTTCCTGAGATGAAATGTTTTACTCTAGAAATAACTAGACTATTTCAGAGCTGTCCTTCAATAAATAAGGACCACTCTACCTTTTAGGGAAATAAAGAGCTGCAACTTCAGGTTCTAGACCCTTTAAGTCATCAAGGTAAATATCTCATCAGGTCCCTGGTGTTGGCTTCTTTTGTGAACACCTGTTTAAAAAAAAAATCAGAGGTAAGAATTTAGTTATTCTTCATTTACAGCTCTGCAAAACACACGCACGTTTGCAAACAGTAAGAGTGACAAGCAGGATTTGAATAGGGTTTTAATTTTAAAGGTGTCAACCAGCCTTTTTACTTAGGTTGGTTCCCAGCCATCCATGCCAATAGAAGAGAAGTTCAGTGCTCCATACATATACTTTGATTTTACTCATTCTCTCATTTGCTGTTAATTGAGTAATACTAGCCCCTAAATAATTTATATTTTAATGGTGAAGTCTTTTTTGTATTTATAGGTCTAAGAACAAGCATGACCAAACTTAAGGCAACCACCTGCATTGGGAACGAGGGCATTACTCTAAAACCATGAAGGCAAGGTTGTCTGGGCACAGGATATTCACATGGTGCCCAAGTATCCACCCTGCATTACCTTCTAACTACAAAAGGACAAAAAATACTTCACAATGGATAGATGTGGCAGATAACATCTTAAACAATAATCACGTTCAGCATTACTATTAGTGGTCATCATGAGATACAATATGAGTACCCAATACATGCAATAAACTAATCTTCAATTCAAACAATAACTCTAAGCCTCTAGACCTGTACTGCCCACTCTAGTGACCACCAGCCACATGTGGCTACTGAGCATTTAAACTGTTGCTAAAGTGAGGTACACAAAATGTTAAAAATGCGTAAAACACACTAAGATACTTCCTTAATAATTTTATATTGATTACATATTAAAATTATATTTTGGATTTATTGGCTTAGATGAAATATATCACTAAACTTAATTTCACCTTATTTTACTTCCTTAAAAGTGGCAATGAGATGATTCAAAATTACACATGTGATTCATATTCCATTTCTAGTGGACAGTAAGTTCTAGAGCTAACTCCCAGTTAAGAAAATATAGGAATGTCACCTTCAAAAAAACAATCAGACAAATCCAGAACGTGAGAGAGCCTAGAAGACACTGGCTGAGCTCTTTAAAAGGTTACTATCACGGGTGTAGAGAGGGCATGAGGGTGTGGATGGGTGTAGGAGAGAGAGTTCTAAAATAAAAAAGATTACAAGAAACATAAAAATCAAATGCAACATGTGAAACCTGATGCAATTTTGGCTTGGGAAACAGGCCAGCTAAAAAAATATTCTTGGTACAATTAGGGAAATGTAAACATGAATTCTTCAAGATGACAATAGTACTGGGGCTATGCAGAGAATGTTCACATTCTTAGAAGGTATATCCTGGCATATCTAAGAGTGAAATGTCATGCCTGCAATTTGTTTTCAAATGTTTTATTAATAAAACACTGTATGTGGATGAATGGAGAGATGTAGGGAGAGAGGGGTTGAGGAGAGAGGGAGGGCAAAAATGTATAATAAAAAGTAGAGGGGAAAAAGAATGAGGCCAAAAGAATAGTAAAAACCACTCAGGGTTCCTGTCTCTAGTCAGATCCTGCACTGTGTGCTAAGAACAGGAGTCATTAGTTCCAAAAACAAAGCATTCATCCTAAAAGAACTGGATTTCCCCCCTTAACATTTCTTAGAGCATAACAAGTGGCTACAGGCCTTTGGTGGAAGAGCAGGTGCCAAGTTAAGCCACCATTCGCTAGATGGTTTTATCTGACCACCAACACCTTCGACAGTCACATTCTTTCATTTTAGATAAATTATTTCTGAGTGAACTTGAAGGTCCATACCTAATATATATTAAGTTGGTTTATAATTACCTAATCTTTGGTGCTAGAATTTTTTTTTAATTGAAATAGGTAATTGGCTATATATGATGTTGGGTAATTTTAGAGAAGGTTTCACACTTTCCTAAAAATAGGATCCAAGGCCAGAGTTCAGAATATGTATGTTCTGACCCACTGTACCAAGTATCGATGGTTGGCTTTTTATTTTCAAATAGTAAGGATGTTCTGATTTATTAAACTTGTGTTCCAAAAGTGAGGAAGAACTGTTGAACCAAGAGTTGGATGTTTTCTCTACT | pathogenic | 286,937 |
Regarding the variant found on chromosome 18 at position 2934456 in gene LPIN2 (lipin 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | CTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAGCACATGACTGAGCCGTGAATATGGACGGAAGGCATACATGGTGCCCCTCCCCAGGGGCCCTCTCCTATGCGATGCTCATTCCTTTCTCTGCTGCCAGTAAACTCTGGACTCTGAGACCCTATGGGGATGGGAGAGCCTCAAGGTGAAAGGAGCCTGTGTTCCTGAATCCCTGTGGGCAAGGCCTCCCCCTAAACACCAACACAGAGCATTCTTCACAGGGGCAAGAAACAAAATTCCATCGTGGTAGGCCAACGAGATCAGGAGTTCCACCTCTACAGCAGCTAGTGTTACCCCAACCAGTAACAACAACATCTACACACATGGGGATGCCGTCTGACTCAGGATGCCACCAAATACAAAAGTGTGTGATTTATATTAAAGTTTAGTGATAATTACAAATACTGTAAATTTGGTAATGAAGATGCTAAGGATCATGACATGACTAATGCTTACATGGATTACAAGAGTCTCACTCACTATCTTTAAATATTTATGAAATGTTTCAAGAAATAGTTAATGAGGTAAGAAGCTTACTTAGTGCATGGACAGTGACTGTGAACAGTTAAATTACAGTAGAGTGGAGTAAGGTATCATCACCTTAGTTACTCTCCTCACTTTTTAAAAGAGAAACTAAGACATATACCGAAGGAATACCAATATAAATAAATGATTAAGGCCTGGGAAATGTGGGGGGAAAAGTGGTAATTCTATGACAGCTTATATTTGAACTTTCCTACTGTTAAAATAAAGCCGTTTCAGTTTTTTCACCTTAAAAAAATCCAACTATTACTTCAAATGAAGTAGATATGTTGAGATAAATTTAGGACAGAGCTAGAAAGGAGTTTTAAGAACTTTCCCAAAATACCTGTAAAAAATTTAAATAGCTTTATATCAATCCCATCTTTCTATTCCAAATAAAAAACAAAATATACTTTTCAGTAATTCATTTACAAGTGTTTAATTATGTGTGCCTATGGCTCAGTATATTCAAGTCATACTTTCCGTGGAGAAAAGTTGTTTTTTTCTAACCACAGAGTAGCAGTTTAACAGAATTCCCCTAAGAGTAGAAATGAACTTGGGAAGGCAGTCCAAGTGTATCATATTTGAGGCCCATATTTGAAGTAATTCAAAGGGAAAATGGTGCGGGACAGTGAGGGAGGCTGGGTGGCAGCTGTGGAGCTGCAGGGGATGTGGGGACACGGGGCGCGGGGGCAGTGCCCCACCAGACCCAGACCCGGTTCAGAAAAGGCTCAGGATCTCAGACTCCCAAGAAGTGAACACATTCTTTGGAAAACATTTTCAAATAAAGATGTGTTTCTTTTAAAACACATAATAAAATAAATGCTAAAAAATTTTCCCAAGCATGTTGAGTTTGTATTAACCACTACAGGAAATGCTAATCAGAAGTCATATACCCTTATGTAGGTTTAACTAGTATATCTCTCCTCATTGTATTGAAAATGTCTTCGTAAGTAATTATTAATTTCAAGTCACTATATTGAAATAAGACACGCGCTATTTCTAAATTTTCCAAAACCTGAAGCCATCATCAGATTTAGCTAAAGGACACCATCATCTTGTTCCTTTTTCCTGAGATGAAATGTTTTACTCTAGAAATAACTAGACTATTTCAGAGCTGTCCTTCAATAAATAAGGACCACTCTACCTTTTAGGGAAATAAAGAGCTGCAACTTCAGGTTCTAGACCCTTTAAGTCATCAAGGTAAATATCATCAGGTCCCTGGTGTTGGCTTCTTTTGTGAACACCTGTTTAAAAAAAAAATCAGAGGTAAGAATTTAGTTATTCTTCATTTACAGCTCTGCAAAACACACGCACGTTTGCAAACAGTAAGAGTGACAAGCAGGATTTGAATAGGGTTTTAATTTTAAAGGTGTCAACCAGCCTTTTTACTTAGGTTGGTTCCCAGCCATCCATGCCAATAGAAGAGAAGTTCAGTGCTCCATACATATACTTTGATTTTACTCATTCTCTCATTTGCTGTTAATTGAGTAATACTAGCCCCTAAATAATTTATATTTTAATGGTGAAGTCTTTTTTGTATTTATAGGTCTAAGAACAAGCATGACCAAACTTAAGGCAACCACCTGCATTGGGAACGAGGGCATTACTCTAAAACCATGAAGGCAAGGTTGTCTGGGCACAGGATATTCACATGGTGCCCAAGTATCCACCCTGCATTACCTTCTAACTACAAAAGGACAAAAAATACTTCACAATGGATAGATGTGGCAGATAACATCTTAAACAATAATCACGTTCAGCATTACTATTAGTGGTCATCATGAGATACAATATGAGTACCCAATACATGCAATAAACTAATCTTCAATTCAAACAATAACTCTAAGCCTCTAGACCTGTACTGCCCACTCTAGTGACCACCAGCCACATGTGGCTACTGAGCATTTAAACTGTTGCTAAAGTGAGGTACACAAAATGTTAAAAATGCGTAAAACACACTAAGATACTTCCTTAATAATTTTATATTGATTACATATTAAAATTATATTTTGGATTTATTGGCTTAGATGAAATATATCACTAAACTTAATTTCACCTTATTTTACTTCCTTAAAAGTGGCAATGAGATGATTCAAAATTACACATGTGATTCATATTCCATTTCTAGTGGACAGTAAGTTCTAGAGCTAACTCCCAGTTAAGAAAATATAGGAATGTCACCTTCAAAAAAACAATCAGACAAATCCAGAACGTGAGAGAGCCTAGAAGACACTGGCTGAGCTCTTTAAAAGGTTACTATCACGGGTGTAGAGAGGGCATGAGGGTGTGGATGGGTGTAGGAGAGAGAGTTCTAAAATAAAAAAGATTACAAGAAACATAAAAATCAAATGCAACATGTGAAACCTGATGCAATTTTGGCTTGGGAAACAGGCCAGCTAAAAAAATATTCTTGGTACAATTAGGGAAATGTAAACATGAATTCTTCAAGATGACAATAGTACTGGGGCTATGCAGAGAATGTTCACATTCTTAGAAGGTATATCCTGGCATATCTAAGAGTGAAATGTCATGCCTGCAATTTGTTTTCAAATGTTTTATTAATAAAACACTGTATGTGGATGAATGGAGAGATGTAGGGAGAGAGGGGTTGAGGAGAGAGGGAGGGCAAAAATGTATAATAAAAAGTAGAGGGGAAAAAGAATGAGGCCAAAAGAATAGTAAAAACCACTCAGGGTTCCTGTCTCTAGTCAGATCCTGCACTGTGTGCTAAGAACAGGAGTCATTAGTTCCAAAAACAAAGCATTCATCCTAAAAGAACTGGATTTCCCCCCTTAACATTTCTTAGAGCATAACAAGTGGCTACAGGCCTTTGGTGGAAGAGCAGGTGCCAAGTTAAGCCACCATTCGCTAGATGGTTTTATCTGACCACCAACACCTTCGACAGTCACATTCTTTCATTTTAGATAAATTATTTCTGAGTGAACTTGAAGGTCCATACCTAATATATATTAAGTTGGTTTATAATTACCTAATCTTTGGTGCTAGAATTTTTTTTTAATTGAAATAGGTAATTGGCTATATATGATGTTGGGTAATTTTAGAGAAGGTTTCACACTTTCCTAAAAATAGGATCCAAGGCCAGAGTTCAGAATATGTATGTTCTGACCCACTGTACCAAGTATCGATGGTTGGCTTTTTATTTTCAAATAGTAAGGATGTTCTGATTTATTAAACTTGTGTTCCAAAAGTGAGGAAGAACTGTTGAACCAAGAGTTGGATGTTTTCTCTACTTATTTTGAGACAGGGTCTCACTCTGTCACATGGGTTAGAGTGCAG | CTAGGTAACAGTTTCAAAACCTGTTTCCCATTTGAATCAACAAAAAAATTCAGGTTTTTGGATATTTTTTCCTCTTAATAGCCATGCACACTCATACCCACAAAATTGAGATTAACTGGACTGACAGAATGTTCTCACTGGAAACACAAAGTCAGCAGAACTGTTGTTATACTGGGAGTGAGGGGCAAGGCCAACCCTTCTGTGTTCACCACACCTGTCTCCTCTTTCTCCGGGGCACACGGCGAGGCCCCCTTGCAGTCAGGTGGGGCCACGTGAGCACATGACTGAGCCGTGAATATGGACGGAAGGCATACATGGTGCCCCTCCCCAGGGGCCCTCTCCTATGCGATGCTCATTCCTTTCTCTGCTGCCAGTAAACTCTGGACTCTGAGACCCTATGGGGATGGGAGAGCCTCAAGGTGAAAGGAGCCTGTGTTCCTGAATCCCTGTGGGCAAGGCCTCCCCCTAAACACCAACACAGAGCATTCTTCACAGGGGCAAGAAACAAAATTCCATCGTGGTAGGCCAACGAGATCAGGAGTTCCACCTCTACAGCAGCTAGTGTTACCCCAACCAGTAACAACAACATCTACACACATGGGGATGCCGTCTGACTCAGGATGCCACCAAATACAAAAGTGTGTGATTTATATTAAAGTTTAGTGATAATTACAAATACTGTAAATTTGGTAATGAAGATGCTAAGGATCATGACATGACTAATGCTTACATGGATTACAAGAGTCTCACTCACTATCTTTAAATATTTATGAAATGTTTCAAGAAATAGTTAATGAGGTAAGAAGCTTACTTAGTGCATGGACAGTGACTGTGAACAGTTAAATTACAGTAGAGTGGAGTAAGGTATCATCACCTTAGTTACTCTCCTCACTTTTTAAAAGAGAAACTAAGACATATACCGAAGGAATACCAATATAAATAAATGATTAAGGCCTGGGAAATGTGGGGGGAAAAGTGGTAATTCTATGACAGCTTATATTTGAACTTTCCTACTGTTAAAATAAAGCCGTTTCAGTTTTTTCACCTTAAAAAAATCCAACTATTACTTCAAATGAAGTAGATATGTTGAGATAAATTTAGGACAGAGCTAGAAAGGAGTTTTAAGAACTTTCCCAAAATACCTGTAAAAAATTTAAATAGCTTTATATCAATCCCATCTTTCTATTCCAAATAAAAAACAAAATATACTTTTCAGTAATTCATTTACAAGTGTTTAATTATGTGTGCCTATGGCTCAGTATATTCAAGTCATACTTTCCGTGGAGAAAAGTTGTTTTTTTCTAACCACAGAGTAGCAGTTTAACAGAATTCCCCTAAGAGTAGAAATGAACTTGGGAAGGCAGTCCAAGTGTATCATATTTGAGGCCCATATTTGAAGTAATTCAAAGGGAAAATGGTGCGGGACAGTGAGGGAGGCTGGGTGGCAGCTGTGGAGCTGCAGGGGATGTGGGGACACGGGGCGCGGGGGCAGTGCCCCACCAGACCCAGACCCGGTTCAGAAAAGGCTCAGGATCTCAGACTCCCAAGAAGTGAACACATTCTTTGGAAAACATTTTCAAATAAAGATGTGTTTCTTTTAAAACACATAATAAAATAAATGCTAAAAAATTTTCCCAAGCATGTTGAGTTTGTATTAACCACTACAGGAAATGCTAATCAGAAGTCATATACCCTTATGTAGGTTTAACTAGTATATCTCTCCTCATTGTATTGAAAATGTCTTCGTAAGTAATTATTAATTTCAAGTCACTATATTGAAATAAGACACGCGCTATTTCTAAATTTTCCAAAACCTGAAGCCATCATCAGATTTAGCTAAAGGACACCATCATCTTGTTCCTTTTTCCTGAGATGAAATGTTTTACTCTAGAAATAACTAGACTATTTCAGAGCTGTCCTTCAATAAATAAGGACCACTCTACCTTTTAGGGAAATAAAGAGCTGCAACTTCAGGTTCTAGACCCTTTAAGTCATCAAGGTAAATATCATCAGGTCCCTGGTGTTGGCTTCTTTTGTGAACACCTGTTTAAAAAAAAAAATCAGAGGTAAGAATTTAGTTATTCTTCATTTACAGCTCTGCAAAACACACGCACGTTTGCAAACAGTAAGAGTGACAAGCAGGATTTGAATAGGGTTTTAATTTTAAAGGTGTCAACCAGCCTTTTTACTTAGGTTGGTTCCCAGCCATCCATGCCAATAGAAGAGAAGTTCAGTGCTCCATACATATACTTTGATTTTACTCATTCTCTCATTTGCTGTTAATTGAGTAATACTAGCCCCTAAATAATTTATATTTTAATGGTGAAGTCTTTTTTGTATTTATAGGTCTAAGAACAAGCATGACCAAACTTAAGGCAACCACCTGCATTGGGAACGAGGGCATTACTCTAAAACCATGAAGGCAAGGTTGTCTGGGCACAGGATATTCACATGGTGCCCAAGTATCCACCCTGCATTACCTTCTAACTACAAAAGGACAAAAAATACTTCACAATGGATAGATGTGGCAGATAACATCTTAAACAATAATCACGTTCAGCATTACTATTAGTGGTCATCATGAGATACAATATGAGTACCCAATACATGCAATAAACTAATCTTCAATTCAAACAATAACTCTAAGCCTCTAGACCTGTACTGCCCACTCTAGTGACCACCAGCCACATGTGGCTACTGAGCATTTAAACTGTTGCTAAAGTGAGGTACACAAAATGTTAAAAATGCGTAAAACACACTAAGATACTTCCTTAATAATTTTATATTGATTACATATTAAAATTATATTTTGGATTTATTGGCTTAGATGAAATATATCACTAAACTTAATTTCACCTTATTTTACTTCCTTAAAAGTGGCAATGAGATGATTCAAAATTACACATGTGATTCATATTCCATTTCTAGTGGACAGTAAGTTCTAGAGCTAACTCCCAGTTAAGAAAATATAGGAATGTCACCTTCAAAAAAACAATCAGACAAATCCAGAACGTGAGAGAGCCTAGAAGACACTGGCTGAGCTCTTTAAAAGGTTACTATCACGGGTGTAGAGAGGGCATGAGGGTGTGGATGGGTGTAGGAGAGAGAGTTCTAAAATAAAAAAGATTACAAGAAACATAAAAATCAAATGCAACATGTGAAACCTGATGCAATTTTGGCTTGGGAAACAGGCCAGCTAAAAAAATATTCTTGGTACAATTAGGGAAATGTAAACATGAATTCTTCAAGATGACAATAGTACTGGGGCTATGCAGAGAATGTTCACATTCTTAGAAGGTATATCCTGGCATATCTAAGAGTGAAATGTCATGCCTGCAATTTGTTTTCAAATGTTTTATTAATAAAACACTGTATGTGGATGAATGGAGAGATGTAGGGAGAGAGGGGTTGAGGAGAGAGGGAGGGCAAAAATGTATAATAAAAAGTAGAGGGGAAAAAGAATGAGGCCAAAAGAATAGTAAAAACCACTCAGGGTTCCTGTCTCTAGTCAGATCCTGCACTGTGTGCTAAGAACAGGAGTCATTAGTTCCAAAAACAAAGCATTCATCCTAAAAGAACTGGATTTCCCCCCTTAACATTTCTTAGAGCATAACAAGTGGCTACAGGCCTTTGGTGGAAGAGCAGGTGCCAAGTTAAGCCACCATTCGCTAGATGGTTTTATCTGACCACCAACACCTTCGACAGTCACATTCTTTCATTTTAGATAAATTATTTCTGAGTGAACTTGAAGGTCCATACCTAATATATATTAAGTTGGTTTATAATTACCTAATCTTTGGTGCTAGAATTTTTTTTTAATTGAAATAGGTAATTGGCTATATATGATGTTGGGTAATTTTAGAGAAGGTTTCACACTTTCCTAAAAATAGGATCCAAGGCCAGAGTTCAGAATATGTATGTTCTGACCCACTGTACCAAGTATCGATGGTTGGCTTTTTATTTTCAAATAGTAAGGATGTTCTGATTTATTAAACTTGTGTTCCAAAAGTGAGGAAGAACTGTTGAACCAAGAGTTGGATGTTTTCTCTACTTATTTTGAGACAGGGTCTCACTCTGTCACATGGGTTAGAGTGCA | benign | 286,938 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 2939614, gene LPIN2 (lipin 2). What disease(s) is it linked to if pathogenic? | benign | AAAAAAGTGCGACGGGTTTCGACTGGTGAATACAAATACAGAGGCAGCCATCACGTTATGTGGAACACTGAAATAATTTACCATCTAATTTGAGAGTACCTGGAGCCAAATTAAACAAACGATTACCTTTCTTCTTTGACGGCGAGTCTACTTTAGCTGCCGGTTTGGATTCTGAGGGCGCCTCCGCTAAGGCTGCGTTGGGAAGGTGGTCAGCATCTAACATAGATGAAATCTGAGTACTCTCAAGAGGAGGTTCGAGAAGCTCTGCCACAGATGTTGGGTCGCTCATCTGTGTACCCAGGGCTCTGGGTTTGGGCTTCACTATGGTACAGACAGTGTCTTCCATGGAAGCATCCTTCTCAACTTCACTGATGAGGTTGTCCTCACTGGGAATTACCCGAAAATGAGTATTTTCTGATGGTGTAATTGTAGCTGTCCTAGGATGATGGTCAGATCGTTCTCTTTTGCTGACCTAAAAAAGTTAAATTGTTTAAAAATTAAACTACTTTCAGAGTATTTGTTATAATCTATTTCCTAAGCTGGCAATGTGTTCATTCTATTTTTAACTTAACACATTCATTAAGTATCTTAGTTTGTACATGTAAAAATTCCATAATAAAGTGAGAAAAACTAATAATTGCCTTTTGTTCAATATCATGATACTTATAAATGTTCTGGCCGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGATTAGCCTGGCCAACAGGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAAGATAATTTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCATTCCAGCCTAGGTGACAGAGCAAGACTTTATCTCAAAAAAAAAGGTGTACGTTAAATGTTCTACTGTGAAGTTATACTGGAGAAGACTGAGGAAACTGACAATTTTCAGTTACTAAGAAGTAGAAAATACTCATTTTGGGGGAGAAAACTAAATGAAAATTTCACCCTCCTTGGACCACATCAAGGCTCTGTTAAAACAGTGTAAAAGTGGCAAGTCTAAATTCGATCACAAATATATGCAAAATGTATATTTTAAAAACCTAAATTCAACAGAAGATCTAAACATTTTCTCTCTCAAGAAATTTATCTTCTCAGTTCTTTCTTCTTTCATTATGAGCTGGAAAAAAAGGTTTAACAATTTCTTGTTTAAAATTTCAGTGTTGGCTGGGGATGGCAGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGCGATCAGGCCAAGCTGATATAGCGAGACCTTGTCTCTACAAAAAATAAAAACTAAAAAATTAACTGGGTGTGGTAGCACACACCTGCAGTCTCAGCTACTTGAAAGTCTGGTGTGGGAGAATTACCTGAGCACAGGAGGTTAAGGCTGCAGTGAGTTGTGGCTGCACCACTGCTCTCCAGCATGGGTGACAGAGCAAGAACTCTGTCTCCAAAAAATAAAAAATAAAAATTCAGTGTGAAAATTTCAGTTTAAGATGCCTTTTAAAATGTCCTTATAATAATTAACAATCATTATTATTCAGTAAATAGAAATATACACAAAATACTACTGAAATCCTTCGGTTGCAAATATATAGTCCAAATGTTACAAAAAATGTTAACTTTGAATTTACTTTTATGACATGAGGGCACTATCATTTACATTCATGAGAGCTCAGTCAGAAATTGCCTCCTTTACTTATGGGCAGAGGAATTCGTCACTTGTTTAATCATTAACACACTTTCCACAGGCAAGTAAACCCTAGTACCTTGGTGGACTCTGGGAATCCGCCCCACGTCCACTCCATGTGAGACTCTGATCTGAGCAGGCTCTCCGCAGGTTTCACCTCCAGCTCTGAATCACTCTTAGGACACGCTGTCTGGGGATAGGTGCTGCAAAGAGAACAAAGACACACGATGACTTGAAAGTCGGGAAACCTTCAGTCTTGCTGAGCCTGACAGATTAAAAGAAACAAATCTGAATATCTTGACTTTATCCTGCATATATAAAAACTCTATGGAAGGGAGCATCAATTATTTCTTCCACTTGAGTTCTTTAATAATAATAATAAAAATGACACCAACTAGTATTTAAGAGGACTTACCAGGTCCTTTGTAAACAAACACTGTAGATTCATAATCTCATTTGCTTTTCACAAGAAATCAATGAGAAAGAAGATAATTTTGTAGGAAAGGAAAAGCAGGCAAATTAACATAACACCTGAGAATCTGATTGCAGAATAAACAGTTATGACTATACTTTTTTTCACTATATTATTCATTTACAGCCAACAGTTGACACTAAAAGATGAGAATTTTTAAGAATTGCAGATGAGTGGGCACAATGTCTCATGTCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCGAGAGGATCACCTGAGGCCAGGAGTTCAAGAATAGCCTGGGCAAAATAGCGAGACTCTGTCTCTACAAAAAAATTTAAAACTTAGCTGAGCACAGTGGTGCGTGCCTGTAGTCCCAGTCACTCAGGAGGCTGAGGTGGGAGGATCACTCGAGCCCAGGGGTTTAAGGCTGCAGTGAGCTATGAGTGTGCCACTGCACTCCAGGCTGGGAAAACAGAGCGAGACCTTGTCTCTACTAAAAAGAAAAAGAAAAAAAATAACTGTAGATGGCTAAATTCCATGCTGATTATACAGATCTACAACTGGCCAACACTGTTAGAGTAAGTCAGATCAAATTTAGAAACAAAATAATTATTGAGAGAAAAGATTCATATTTATGTTACAAGTAAACATTCAGTTCCTTGGCTGTGTGAGAGAAATGGGAAATATCATTACTACAGATTAACAGAAAAGCTAATTAATACATCTCCTTCCTCTTTCAAGAAACCAAGAAATTTCAAAGATACTTACGTCTCTAAAGGGGACCAATCTCCATCAGATAAGGGGTAATGATCCCCAGAATGGAAGAGCAAAGGCTCTTTACATTCTTCTTCTTTCAAGGAAGCATTTGAAGATCCTCTGTGAAGGAGAAACCAAAGAAAGGCAGGAACGATGACATTCTTGTCAGCTTTAAAATATCCCCCAAACCTACTGATACTACAAACAATCAAAATGAAGAGGGGCAAATGATTACTAACTCTCTCTAAAATATATGAAGGAGAAGGGGGGATACACCAATGCCACCCACTATAAAACACCACAATCACTATTCACATATGGAATAAATAGGGGGAGGACAAAAGAGAAATGTGATTTCTCTTTTTTCCATCCCTTAAGGGTGATTCAAAGGCTAAAAGAAAACTAAGGCTTTATGTCTATTTCATTCAATCCTTACAAAATGAGGTAATATTTCATTGTAGATTTTAAGTAATCAAGGATCCAGAGAAATTTAGTAACTTGCTCAAAGTCAAAAAGATAGGAAGTAGTTGGATTCAAAACAAGTAAGCCCTTATTCTTTCCACTGCTCTCCCCTTTCTACTGAATACATTTGAAAATGTATATTAGCTGAAGACAAACAAGATCTATGGCTCAAAATTTTAACAATACCCTAACCTCTTAAAACCTTGGGACTAATTTTCTTCTTTGTTTGGCCCAAGGATTATCTGAGAAGGTTTCCTTTACTTGGAATCTACAAGATGTGGAGATGTGAAGATGATACCAAAAATGACAAATGCTTTTAAGATTCATAAAAGGACCTTGGGTAGGGGGTTACACTACTGCTGATAAGATTTTAATCAATTTACTTGTTGGTTTCTCAGATTTTCAGTTACTATAACTACCTTGCCATATAACCTTGAAAACATCCCTCAGAAGCACTGTGGGCCCCCGTTTTCATCTTTACTTGGAAATTTATCATTTGTCCTGTCTACTTCAGAGTCAATGTGAGAGTTACATGGTGTAGCATGTTGAAATCTCTGAAAAGTAAAAAGAAAAGCACAAAGAAAGACTCTGGCCAGGTACAGTGGCT | AAAAAAGTGCGACGGGTTTCGACTGGTGAATACAAATACAGAGGCAGCCATCACGTTATGTGGAACACTGAAATAATTTACCATCTAATTTGAGAGTACCTGGAGCCAAATTAAACAAACGATTACCTTTCTTCTTTGACGGCGAGTCTACTTTAGCTGCCGGTTTGGATTCTGAGGGCGCCTCCGCTAAGGCTGCGTTGGGAAGGTGGTCAGCATCTAACATAGATGAAATCTGAGTACTCTCAAGAGGAGGTTCGAGAAGCTCTGCCACAGATGTTGGGTCGCTCATCTGTGTACCCAGGGCTCTGGGTTTGGGCTTCACTATGGTACAGACAGTGTCTTCCATGGAAGCATCCTTCTCAACTTCACTGATGAGGTTGTCCTCACTGGGAATTACCCGAAAATGAGTATTTTCTGATGGTGTAATTGTAGCTGTCCTAGGATGATGGTCAGATCGTTCTCTTTTGCTGACCTAAAAAAGTTAAATTGTTTAAAAATTAAACTACTTTCAGAGTATTTGTTATAATCTATTTCCTAAGCTGGCAATGTGTTCATTCTATTTTTAACTTAACACATTCATTAAGTATCTTAGTTTGTACATGTAAAAATTCCATAATAAAGTGAGAAAAACTAATAATTGCCTTTTGTTCAATATCATGATACTTATAAATGTTCTGGCCGGGCACAGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGATTAGCCTGGCCAACAGGATGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAAGATAATTTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCGAGATGGCACCACTGCATTCCAGCCTAGGTGACAGAGCAAGACTTTATCTCAAAAAAAAAGGTGTACGTTAAATGTTCTACTGTGAAGTTATACTGGAGAAGACTGAGGAAACTGACAATTTTCAGTTACTAAGAAGTAGAAAATACTCATTTTGGGGGAGAAAACTAAATGAAAATTTCACCCTCCTTGGACCACATCAAGGCTCTGTTAAAACAGTGTAAAAGTGGCAAGTCTAAATTCGATCACAAATATATGCAAAATGTATATTTTAAAAACCTAAATTCAACAGAAGATCTAAACATTTTCTCTCTCAAGAAATTTATCTTCTCAGTTCTTTCTTCTTTCATTATGAGCTGGAAAAAAAGGTTTAACAATTTCTTGTTTAAAATTTCAGTGTTGGCTGGGGATGGCAGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGCGATCAGGCCAAGCTGATATAGCGAGACCTTGTCTCTACAAAAAATAAAAACTAAAAAATTAACTGGGTGTGGTAGCACACACCTGCAGTCTCAGCTACTTGAAAGTCTGGTGTGGGAGAATTACCTGAGCACAGGAGGTTAAGGCTGCAGTGAGTTGTGGCTGCACCACTGCTCTCCAGCATGGGTGACAGAGCAAGAACTCTGTCTCCAAAAAATAAAAAATAAAAATTCAGTGTGAAAATTTCAGTTTAAGATGCCTTTTAAAATGTCCTTATAATAATTAACAATCATTATTATTCAGTAAATAGAAATATACACAAAATACTACTGAAATCCTTCGGTTGCAAATATATAGTCCAAATGTTACAAAAAATGTTAACTTTGAATTTACTTTTATGACATGAGGGCACTATCATTTACATTCATGAGAGCTCAGTCAGAAATTGCCTCCTTTACTTATGGGCAGAGGAATTCGTCACTTGTTTAATCATTAACACACTTTCCACAGGCAAGTAAACCCTAGTACCTTGGTGGACTCTGGGAATCCGCCCCACGTCCACTCCATGTGAGACTCTGATCTGAGCAGGCTCTCCGCAGGTTTCACCTCCAGCTCTGAATCACTCTTAGGACACGCTGTCTGGGGATAGGTGCTGCAAAGAGAACACAAAGACACACGATGACTTGAAAGTCGGGAAACCTTCAGTCTTGCTGAGCCTGACAGATTAAAAGAAACAAATCTGAATATCTTGACTTTATCCTGCATATATAAAAACTCTATGGAAGGGAGCATCAATTATTTCTTCCACTTGAGTTCTTTAATAATAATAATAAAAATGACACCAACTAGTATTTAAGAGGACTTACCAGGTCCTTTGTAAACAAACACTGTAGATTCATAATCTCATTTGCTTTTCACAAGAAATCAATGAGAAAGAAGATAATTTTGTAGGAAAGGAAAAGCAGGCAAATTAACATAACACCTGAGAATCTGATTGCAGAATAAACAGTTATGACTATACTTTTTTTCACTATATTATTCATTTACAGCCAACAGTTGACACTAAAAGATGAGAATTTTTAAGAATTGCAGATGAGTGGGCACAATGTCTCATGTCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCGAGAGGATCACCTGAGGCCAGGAGTTCAAGAATAGCCTGGGCAAAATAGCGAGACTCTGTCTCTACAAAAAAATTTAAAACTTAGCTGAGCACAGTGGTGCGTGCCTGTAGTCCCAGTCACTCAGGAGGCTGAGGTGGGAGGATCACTCGAGCCCAGGGGTTTAAGGCTGCAGTGAGCTATGAGTGTGCCACTGCACTCCAGGCTGGGAAAACAGAGCGAGACCTTGTCTCTACTAAAAAGAAAAAGAAAAAAAATAACTGTAGATGGCTAAATTCCATGCTGATTATACAGATCTACAACTGGCCAACACTGTTAGAGTAAGTCAGATCAAATTTAGAAACAAAATAATTATTGAGAGAAAAGATTCATATTTATGTTACAAGTAAACATTCAGTTCCTTGGCTGTGTGAGAGAAATGGGAAATATCATTACTACAGATTAACAGAAAAGCTAATTAATACATCTCCTTCCTCTTTCAAGAAACCAAGAAATTTCAAAGATACTTACGTCTCTAAAGGGGACCAATCTCCATCAGATAAGGGGTAATGATCCCCAGAATGGAAGAGCAAAGGCTCTTTACATTCTTCTTCTTTCAAGGAAGCATTTGAAGATCCTCTGTGAAGGAGAAACCAAAGAAAGGCAGGAACGATGACATTCTTGTCAGCTTTAAAATATCCCCCAAACCTACTGATACTACAAACAATCAAAATGAAGAGGGGCAAATGATTACTAACTCTCTCTAAAATATATGAAGGAGAAGGGGGGATACACCAATGCCACCCACTATAAAACACCACAATCACTATTCACATATGGAATAAATAGGGGGAGGACAAAAGAGAAATGTGATTTCTCTTTTTTCCATCCCTTAAGGGTGATTCAAAGGCTAAAAGAAAACTAAGGCTTTATGTCTATTTCATTCAATCCTTACAAAATGAGGTAATATTTCATTGTAGATTTTAAGTAATCAAGGATCCAGAGAAATTTAGTAACTTGCTCAAAGTCAAAAAGATAGGAAGTAGTTGGATTCAAAACAAGTAAGCCCTTATTCTTTCCACTGCTCTCCCCTTTCTACTGAATACATTTGAAAATGTATATTAGCTGAAGACAAACAAGATCTATGGCTCAAAATTTTAACAATACCCTAACCTCTTAAAACCTTGGGACTAATTTTCTTCTTTGTTTGGCCCAAGGATTATCTGAGAAGGTTTCCTTTACTTGGAATCTACAAGATGTGGAGATGTGAAGATGATACCAAAAATGACAAATGCTTTTAAGATTCATAAAAGGACCTTGGGTAGGGGGTTACACTACTGCTGATAAGATTTTAATCAATTTACTTGTTGGTTTCTCAGATTTTCAGTTACTATAACTACCTTGCCATATAACCTTGAAAACATCCCTCAGAAGCACTGTGGGCCCCCGTTTTCATCTTTACTTGGAAATTTATCATTTGTCCTGTCTACTTCAGAGTCAATGTGAGAGTTACATGGTGTAGCATGTTGAAATCTCTGAAAAGTAAAAAGAAAAGCACAAAGAAAGACTCTGGCCAGGTACAGTGG | benign | 286,953 |
Assess the variant on chromosome 18, position 2940582, impacting LPIN2 (lipin 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | GTGTACGTTAAATGTTCTACTGTGAAGTTATACTGGAGAAGACTGAGGAAACTGACAATTTTCAGTTACTAAGAAGTAGAAAATACTCATTTTGGGGGAGAAAACTAAATGAAAATTTCACCCTCCTTGGACCACATCAAGGCTCTGTTAAAACAGTGTAAAAGTGGCAAGTCTAAATTCGATCACAAATATATGCAAAATGTATATTTTAAAAACCTAAATTCAACAGAAGATCTAAACATTTTCTCTCTCAAGAAATTTATCTTCTCAGTTCTTTCTTCTTTCATTATGAGCTGGAAAAAAAGGTTTAACAATTTCTTGTTTAAAATTTCAGTGTTGGCTGGGGATGGCAGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGCGATCAGGCCAAGCTGATATAGCGAGACCTTGTCTCTACAAAAAATAAAAACTAAAAAATTAACTGGGTGTGGTAGCACACACCTGCAGTCTCAGCTACTTGAAAGTCTGGTGTGGGAGAATTACCTGAGCACAGGAGGTTAAGGCTGCAGTGAGTTGTGGCTGCACCACTGCTCTCCAGCATGGGTGACAGAGCAAGAACTCTGTCTCCAAAAAATAAAAAATAAAAATTCAGTGTGAAAATTTCAGTTTAAGATGCCTTTTAAAATGTCCTTATAATAATTAACAATCATTATTATTCAGTAAATAGAAATATACACAAAATACTACTGAAATCCTTCGGTTGCAAATATATAGTCCAAATGTTACAAAAAATGTTAACTTTGAATTTACTTTTATGACATGAGGGCACTATCATTTACATTCATGAGAGCTCAGTCAGAAATTGCCTCCTTTACTTATGGGCAGAGGAATTCGTCACTTGTTTAATCATTAACACACTTTCCACAGGCAAGTAAACCCTAGTACCTTGGTGGACTCTGGGAATCCGCCCCACGTCCACTCCATGTGAGACTCTGATCTGAGCAGGCTCTCCGCAGGTTTCACCTCCAGCTCTGAATCACTCTTAGGACACGCTGTCTGGGGATAGGTGCTGCAAAGAGAACAAAGACACACGATGACTTGAAAGTCGGGAAACCTTCAGTCTTGCTGAGCCTGACAGATTAAAAGAAACAAATCTGAATATCTTGACTTTATCCTGCATATATAAAAACTCTATGGAAGGGAGCATCAATTATTTCTTCCACTTGAGTTCTTTAATAATAATAATAAAAATGACACCAACTAGTATTTAAGAGGACTTACCAGGTCCTTTGTAAACAAACACTGTAGATTCATAATCTCATTTGCTTTTCACAAGAAATCAATGAGAAAGAAGATAATTTTGTAGGAAAGGAAAAGCAGGCAAATTAACATAACACCTGAGAATCTGATTGCAGAATAAACAGTTATGACTATACTTTTTTTCACTATATTATTCATTTACAGCCAACAGTTGACACTAAAAGATGAGAATTTTTAAGAATTGCAGATGAGTGGGCACAATGTCTCATGTCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCGAGAGGATCACCTGAGGCCAGGAGTTCAAGAATAGCCTGGGCAAAATAGCGAGACTCTGTCTCTACAAAAAAATTTAAAACTTAGCTGAGCACAGTGGTGCGTGCCTGTAGTCCCAGTCACTCAGGAGGCTGAGGTGGGAGGATCACTCGAGCCCAGGGGTTTAAGGCTGCAGTGAGCTATGAGTGTGCCACTGCACTCCAGGCTGGGAAAACAGAGCGAGACCTTGTCTCTACTAAAAAGAAAAAGAAAAAAAATAACTGTAGATGGCTAAATTCCATGCTGATTATACAGATCTACAACTGGCCAACACTGTTAGAGTAAGTCAGATCAAATTTAGAAACAAAATAATTATTGAGAGAAAAGATTCATATTTATGTTACAAGTAAACATTCAGTTCCTTGGCTGTGTGAGAGAAATGGGAAATATCATTACTACAGATTAACAGAAAAGCTAATTAATACATCTCCTTCCTCTTTCAAGAAACCAAGAAATTTCAAAGATACTTACGTCTCTAAAGGGGACCAATCTCCATCAGATAAGGGGTAATGATCCCCAGAATGGAAGAGCAAAGGCTCTTTACATTCTTCTTCTTTCAAGGAAGCATTTGAAGATCCTCTGTGAAGGAGAAACCAAAGAAAGGCAGGAACGATGACATTCTTGTCAGCTTTAAAATATCCCCCAAACCTACTGATACTACAAACAATCAAAATGAAGAGGGGCAAATGATTACTAACTCTCTCTAAAATATATGAAGGAGAAGGGGGGATACACCAATGCCACCCACTATAAAACACCACAATCACTATTCACATATGGAATAAATAGGGGGAGGACAAAAGAGAAATGTGATTTCTCTTTTTTCCATCCCTTAAGGGTGATTCAAAGGCTAAAAGAAAACTAAGGCTTTATGTCTATTTCATTCAATCCTTACAAAATGAGGTAATATTTCATTGTAGATTTTAAGTAATCAAGGATCCAGAGAAATTTAGTAACTTGCTCAAAGTCAAAAAGATAGGAAGTAGTTGGATTCAAAACAAGTAAGCCCTTATTCTTTCCACTGCTCTCCCCTTTCTACTGAATACATTTGAAAATGTATATTAGCTGAAGACAAACAAGATCTATGGCTCAAAATTTTAACAATACCCTAACCTCTTAAAACCTTGGGACTAATTTTCTTCTTTGTTTGGCCCAAGGATTATCTGAGAAGGTTTCCTTTACTTGGAATCTACAAGATGTGGAGATGTGAAGATGATACCAAAAATGACAAATGCTTTTAAGATTCATAAAAGGACCTTGGGTAGGGGGTTACACTACTGCTGATAAGATTTTAATCAATTTACTTGTTGGTTTCTCAGATTTTCAGTTACTATAACTACCTTGCCATATAACCTTGAAAACATCCCTCAGAAGCACTGTGGGCCCCCGTTTTCATCTTTACTTGGAAATTTATCATTTGTCCTGTCTACTTCAGAGTCAATGTGAGAGTTACATGGTGTAGCATGTTGAAATCTCTGAAAAGTAAAAAGAAAAGCACAAAGAAAGACTCTGGCCAGGTACAGTGGCTCATGCCTGTCATCCCAGCACTTCGGAAGGCCGAGGCGGGTGGATCACGAGGTCAGGGGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCGGAGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGAGAGACTCCATCCCAAAAACAAACAAAACTCTGCAAAGCATAAAGCGCCATATTATACAAGTTTAAAGGCTTCTTATAGAAAATTCAATGTTCTAATAGGACAGATAATAAATGTAAATGAGAATATCCACATCACTTAGTTTGCTGGACTAAACACAGGGATAGAAAACCAGGTTCTTTTTTAATATTACTCTTCTTCCTTTATATCTTAACTTAACATACTCTTATTTACCACTAACTCTGACATGTAATAGTTTTTCCACATAGCTTAATCTTTTAATTTAAGGTTTTCCTAACTCTGGTCTTCTTTCTCTAGGGCCTTACTCTGGCATACCACTCATTGAAGGGGAGAAAACATATACCTGAGAAAGACATCTAGGAAAAAGTACTCTATTTCTCAATAAAGGAATATCAAAAGGCAAATTTTCCCCTGAGAAAGGGAAAATCAGGTTTGTGAATGGTCTTTATTTGCCCACTCTGAAAGGACACATCAGCTTGACCCATCACTATCCATACGTGAAAGTGGTCTGAAAAGAACAATGTAAAAGTCACACAAATTTCTAACCGGAATTTTTATATTACAAATATTTTACTTTTGGGACATATTTCACTGCAGTATAAAAGGTAAGCCAAGAAGAATTCAGCAAAGCAAACAGGATTTAGTAAAATATTGAAAAAGCGATCAGGTACCACCTGAATTCACAGCCCCAGGAAGACAAG | GTGTACGTTAAATGTTCTACTGTGAAGTTATACTGGAGAAGACTGAGGAAACTGACAATTTTCAGTTACTAAGAAGTAGAAAATACTCATTTTGGGGGAGAAAACTAAATGAAAATTTCACCCTCCTTGGACCACATCAAGGCTCTGTTAAAACAGTGTAAAAGTGGCAAGTCTAAATTCGATCACAAATATATGCAAAATGTATATTTTAAAAACCTAAATTCAACAGAAGATCTAAACATTTTCTCTCTCAAGAAATTTATCTTCTCAGTTCTTTCTTCTTTCATTATGAGCTGGAAAAAAAGGTTTAACAATTTCTTGTTTAAAATTTCAGTGTTGGCTGGGGATGGCAGCTCACGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGAGGATCTCTTGAGCCCAGGAGTTTGCGATCAGGCCAAGCTGATATAGCGAGACCTTGTCTCTACAAAAAATAAAAACTAAAAAATTAACTGGGTGTGGTAGCACACACCTGCAGTCTCAGCTACTTGAAAGTCTGGTGTGGGAGAATTACCTGAGCACAGGAGGTTAAGGCTGCAGTGAGTTGTGGCTGCACCACTGCTCTCCAGCATGGGTGACAGAGCAAGAACTCTGTCTCCAAAAAATAAAAAATAAAAATTCAGTGTGAAAATTTCAGTTTAAGATGCCTTTTAAAATGTCCTTATAATAATTAACAATCATTATTATTCAGTAAATAGAAATATACACAAAATACTACTGAAATCCTTCGGTTGCAAATATATAGTCCAAATGTTACAAAAAATGTTAACTTTGAATTTACTTTTATGACATGAGGGCACTATCATTTACATTCATGAGAGCTCAGTCAGAAATTGCCTCCTTTACTTATGGGCAGAGGAATTCGTCACTTGTTTAATCATTAACACACTTTCCACAGGCAAGTAAACCCTAGTACCTTGGTGGACTCTGGGAATCCGCCCCACGTCCACTCCATGTGAGACTCTGATCTGAGCAGGCTCTCCGCAGGTTTCACCTCCAGCTCTGAATCACTCTTAGGACACGCTGTCTGGGGATAGGTGCTGCAAAGAGAACAAAGACACACGATGACTTGAAAGTCGGGAAACCTTCAGTCTTGCTGAGCCTGACAGATTAAAAGAAACAAATCTGAATATCTTGACTTTATCCTGCATATATAAAAACTCTATGGAAGGGAGCATCAATTATTTCTTCCACTTGAGTTCTTTAATAATAATAATAAAAATGACACCAACTAGTATTTAAGAGGACTTACCAGGTCCTTTGTAAACAAACACTGTAGATTCATAATCTCATTTGCTTTTCACAAGAAATCAATGAGAAAGAAGATAATTTTGTAGGAAAGGAAAAGCAGGCAAATTAACATAACACCTGAGAATCTGATTGCAGAATAAACAGTTATGACTATACTTTTTTTCACTATATTATTCATTTACAGCCAACAGTTGACACTAAAAGATGAGAATTTTTAAGAATTGCAGATGAGTGGGCACAATGTCTCATGTCTGTAATCCCAGTGCTTTGGGAGGCCAAGGCGAGAGGATCACCTGAGGCCAGGAGTTCAAGAATAGCCTGGGCAAAATAGCGAGACTCTGTCTCTACAAAAAAATTTAAAACTTAGCTGAGCACAGTGGTGCGTGCCTGTAGTCCCAGTCACTCAGGAGGCTGAGGTGGGAGGATCACTCGAGCCCAGGGGTTTAAGGCTGCAGTGAGCTATGAGTGTGCCACTGCACTCCAGGCTGGGAAAACAGAGCGAGACCTTGTCTCTACTAAAAAGAAAAAGAAAAAAAATAACTGTAGATGGCTAAATTCCATGCTGATTATACAGATCTACAACTGGCCAACACTGTTAGAGTAAGTCAGATCAAATTTAGAAACAAAATAATTATTGAGAGAAAAGATTCATATTTATGTTACAAGTAAACATTCAGTTCCTTGGCTGTGTGAGAGAAATGGGAAATATCATTACTACAGATTAACAGAAAAGCTAATTAATACATCTCCTTCCTCTTTCAAGAAACCAAATTTCAAAGATACTTACGTCTCTAAAGGGGACCAATCTCCATCAGATAAGGGGTAATGATCCCCAGAATGGAAGAGCAAAGGCTCTTTACATTCTTCTTCTTTCAAGGAAGCATTTGAAGATCCTCTGTGAAGGAGAAACCAAAGAAAGGCAGGAACGATGACATTCTTGTCAGCTTTAAAATATCCCCCAAACCTACTGATACTACAAACAATCAAAATGAAGAGGGGCAAATGATTACTAACTCTCTCTAAAATATATGAAGGAGAAGGGGGGATACACCAATGCCACCCACTATAAAACACCACAATCACTATTCACATATGGAATAAATAGGGGGAGGACAAAAGAGAAATGTGATTTCTCTTTTTTCCATCCCTTAAGGGTGATTCAAAGGCTAAAAGAAAACTAAGGCTTTATGTCTATTTCATTCAATCCTTACAAAATGAGGTAATATTTCATTGTAGATTTTAAGTAATCAAGGATCCAGAGAAATTTAGTAACTTGCTCAAAGTCAAAAAGATAGGAAGTAGTTGGATTCAAAACAAGTAAGCCCTTATTCTTTCCACTGCTCTCCCCTTTCTACTGAATACATTTGAAAATGTATATTAGCTGAAGACAAACAAGATCTATGGCTCAAAATTTTAACAATACCCTAACCTCTTAAAACCTTGGGACTAATTTTCTTCTTTGTTTGGCCCAAGGATTATCTGAGAAGGTTTCCTTTACTTGGAATCTACAAGATGTGGAGATGTGAAGATGATACCAAAAATGACAAATGCTTTTAAGATTCATAAAAGGACCTTGGGTAGGGGGTTACACTACTGCTGATAAGATTTTAATCAATTTACTTGTTGGTTTCTCAGATTTTCAGTTACTATAACTACCTTGCCATATAACCTTGAAAACATCCCTCAGAAGCACTGTGGGCCCCCGTTTTCATCTTTACTTGGAAATTTATCATTTGTCCTGTCTACTTCAGAGTCAATGTGAGAGTTACATGGTGTAGCATGTTGAAATCTCTGAAAAGTAAAAAGAAAAGCACAAAGAAAGACTCTGGCCAGGTACAGTGGCTCATGCCTGTCATCCCAGCACTTCGGAAGGCCGAGGCGGGTGGATCACGAGGTCAGGGGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGGCTAAGGCAGAGAACTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCGGAGATCGCACCACTGCACTCCAGCCTAGGTGACAGAGAGAGACTCCATCCCAAAAACAAACAAAACTCTGCAAAGCATAAAGCGCCATATTATACAAGTTTAAAGGCTTCTTATAGAAAATTCAATGTTCTAATAGGACAGATAATAAATGTAAATGAGAATATCCACATCACTTAGTTTGCTGGACTAAACACAGGGATAGAAAACCAGGTTCTTTTTTAATATTACTCTTCTTCCTTTATATCTTAACTTAACATACTCTTATTTACCACTAACTCTGACATGTAATAGTTTTTCCACATAGCTTAATCTTTTAATTTAAGGTTTTCCTAACTCTGGTCTTCTTTCTCTAGGGCCTTACTCTGGCATACCACTCATTGAAGGGGAGAAAACATATACCTGAGAAAGACATCTAGGAAAAAGTACTCTATTTCTCAATAAAGGAATATCAAAAGGCAAATTTTCCCCTGAGAAAGGGAAAATCAGGTTTGTGAATGGTCTTTATTTGCCCACTCTGAAAGGACACATCAGCTTGACCCATCACTATCCATACGTGAAAGTGGTCTGAAAAGAACAATGTAAAAGTCACACAAATTTCTAACCGGAATTTTTATATTACAAATATTTTACTTTTGGGACATATTTCACTGCAGTATAAAAGGTAAGCCAAGAAGAATTCAGCAAAGCAAACAGGATTTAGTAAAATATTGAAAAAGCGATCAGGTACCACCTGAATTCACAGCCCCAGGAAGACAAGNNN | benign | 286,955 |
The mutation impacting LPIN2 (lipin 2) on chromosome 18 at position 2951449: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAAATTTTGTAAATATAGTGTACTCTGGTTTGTAGAGCTTAACATACTTTTCCACTATTGCTTTCCATCTTTTGTTGTTTAGTTCTATTGGAGAAATTCTGCATTCTATCAGAACTGAAATCAAAGTGTTACATATTCAGCGTGGGAGGAGTAAGACAGAACACCACAGACATGACAGCTAGTGAGCAATAAAACAAGAGGAGTAGAAAAAAATTTCATGTATTAAAAATGGCTATGTTACTTATAATATCGAATTGTAAAAAATTACTATCAAATATAGATGTTTAATTCTAAGATTTAAAATCTAGATTTCAAAATTTTGGAAAATGAATTGTTTTACAAAAAAGGATTATACTATGTTATTCATTAATGCAGTATAATTATAATATACTAATACTACATTAATTAACACTTTTTGCTGGGCTCAGTGGTTCATGCCTGTAATCTTAGCACTTTGGGAGGCTGAGGCGGGAGAGTTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTCAACTCTACAGAAAATTTTTAAAAACTAGCTGGGTGTAGGGGTAAGCACATACAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGTTCGGGAGTTCAATGTTACAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAACACAGGGAGAACCTGTCTCAATTAAAAAACAAAACAAAACAAAGCATATTTTTTTCCTGGTTTGACCATTTAAAACAAAAGATTGGCAAATAAAACACATACCAGATTGAGCTAGGGTTTACTCTTGATATATATTTGGTTTCCATAGCTAGTGAAAGAAATTATTTCCCTCTATTCTAGGATGAAAAACACTTGAACATCACTGTTTTCCAGGAAGTAGGGTGTGACCTCTTTTCGACAGATGGGGTGAAAACACACAAGTGGACCAGCAGCTCCCGCCACAAATAAAGAGTCTGGAAATGCAGGGCCACTCATGGGCAGCAGCTTCTTGTCCAGTCGTCACCAATAAAGAGAATCCCCACCACGGTCCTAGTGCCAAGGTGGCCACTGAGTGCAACAGGTGGAAGAAAACGGAATCTTGAATAAGAAAACGTGTTCTACTCCCAACTGCTACCTTTCAACCCCAAGCGGTGCTGACATGAAAAATGGCATATAATGAGCTCTTCTACAGAGCAGGTAAATAAGCAGCGATCAAGACTGCTCATGTAAAAAAATAAAAATCATTCCTTTTCAATTCCAATAAAACAAAACTCAACTCCTCAGGAAAAACATACCAAGCCTAAGGCCACTGGGTAGGGAAATCCCAGAGATGACATGGTGTCCAACTGGATCTGCTCACCGAGGGGCAAATCACTAATTCAGATCTTTTGACTTAGAACTTATTTGGCTCCTGGAAACTTCTTTATGAAAAGAAACACAACCAGTCTGCTACAAATGACATTTCAGTAGCATATTTATAGAATAGTTGAAAGGAACAAAGAAACTGCCTTTGCTGCTTGATTCCACAATAAACTGTAAAGGGGGAAAACAAGCCCAAACCTCACACTGTGTATCCATAAAAAAACTGGCAGCTCCTGGCTTCACATGAACTCTAGGTACCCGCACAAGACCCTTCCCAGGCTGAGAGTCCTACCGTGCTGCCTGGGCCCCCTTGTCATCATCGGAGCTCACGCCTACATCACATGTGTCTTCTGCAGCAGCAGATGCGGCCTGCTCTTCCTTCTTACTGTCCTGTTTGTATTTCTTTCTCCTTCGTTTTTTCTTTTTCACAGAACTTGGAGTAAAAATTGTCTCTGTTTCCAAGACGTGTGAGATGTCTGAACTCTGAGATGGTGTTTCATCTCCACCCGATTTCACCAAAGGGGTGTCAATATCTTTAAAGAACTGATCTTCAGTAGGAATTGGTGAGGTGGCAAGGTAAGCAGGAAGCTTTTCCTTGAGGAGAATGGAGAAAGAAAAGTTATCCATGACAAACTCGACAGTGAATTAAAGCAGTAATATTTTGAATATATAAATTTTCACCATGGTAAAAAAAAAAAAAATACATATTCCCTAAAGGCAAGAAAGTCCCACTGAACTAAGGCACTGCCTACTATACTCTGACGAGGTCTTTCCCCTGTGAGGCAGCTAAGTACCAGCCCACTTGGGTACATGTAACTGAGTCCATCTGAAGGAACTGACATGCCAAGTCAGCATGGAACACCCCAAAGCCATAATTAAAGCTAAGCCTATTAAATTCTTCACAAAGCAAAGATCAAAGCAGCAACAAAAATCTCAGGAGGTGTTACAAAGGACTCTCTCAAGAACTCACACAGAACATTCAGAACAGGAAAAAGCAGAAGGCAGAGATTAAGGACACTACATCAGACAAAGGGCAGCAGGACAGGTGAGTGACGCGAGGATGCAGTGATACAGAGCGGCCAATGCTTATGTTTTGCCAAATTAATTGGAGAAAGGCAATTAGAGACAATACCGTGTAACAAATGACATTAGTAAATTTTTAAACCATAAAGCATTTATGTTTAAAAATAAGAAATATTCCTTCCTGTAGGAATTCAAAAGAAGAAAATAAGGCCCAATATTTAGAAGCAGTCAAACTCCTAATACTAAATAAACGATCAAGTCTGGTGTTCAGTAAATTCATGTCTTAGCCATTTGTTTCATTCCTTTTTGTATCATCAGAGGAAATGGAAGGTACATAATAGAGATAAAAATTAACTTCAGGCAGAACGTGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCCTGGTGATGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGGACCTGAGGGGGAGGTTGTAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAACAAACAACAAAAAAATTAACCTCATATAATTTAAAATACTCAAGCTTTTAAACAATAGTTCTGAAAATGTATAGGTTTCTGTAATTATTTTTTTATTAAGCTTTTGAACTTAGCTTTGATAAACATATTACCCTGAAGCTAAAGTTTGATTTAGCTAGGAGAAATCTGTGTTCACCAGAAACACACACTTACAGAGAAATTGTAATAAGATATTCTGAATGTCCAAAAGAAACCCAGATGAGAGGTCGTGGTCTCTGACTTTGAGGATTTTTAATTCAATGATCTTTATTTTACTTACTGAAAGCTCTTTTTGTTTCTGGTGGTATTTCTTAGTTCTATTATAGCAATGTTTGTAGGATGAAGATAACCTGAACGCCTACCAGCAAGAAAATGGTTAAACAAACTATGGTATGTCCATACTATGGAATACTGTGCAGCTATTAAAAGCACAGAGTTAGGTTTAGAACTAGACTTGAAAAGAATGTTGATGACATATAATTAAATGAGAAAAATCTGAGAGAAAAAAATCAAATAAATGGCAACAAACTGGGTTTTTGGTCATCTTTATCCTACTCTAAATGACGAACCCCTAGAGGAACAGAGGCATGTTGTATTCATAGCATGTGGCATAGAGTAGTAATTCCAACATTTGTTGGATAAATTAACAATTTTTTATTTTAAGGAGAAGCATACTACACAAGATAAACTCTGGTCAATGTAGTCATATGTGGAATAGGGAGAAAAAGGCTGGAAAGTTGACATTTTCCAAGTTGTCCTTGCTGAGCATAATTTTTAGCGGAACTGTCAGAATAAGCCATGAAAACGAGGTTAACATCAATAACCCAGTCCTCTCGCTTACGGTGCCTGCTGATCTAGAAGTTCAGTGTTATGAATTATAAATAATTTTAAGAAACATACAAAAAGTGGTTTTTTTTTTTGACAGATGTCATTTATTATGTTTCATTCTGCTCTTTGCCTCTGTCTCTGATAAGGAAAAATGTTGCTTAGGCCAAGTAAATGCAAACAAGGTATTACAAAGATAAGTAATGAAGAAACTAGAAAAAGCACC | AAAATTTTGTAAATATAGTGTACTCTGGTTTGTAGAGCTTAACATACTTTTCCACTATTGCTTTCCATCTTTTGTTGTTTAGTTCTATTGGAGAAATTCTGCATTCTATCAGAACTGAAATCAAAGTGTTACATATTCAGCGTGGGAGGAGTAAGACAGAACACCACAGACATGACAGCTAGTGAGCAATAAAACAAGAGGAGTAGAAAAAAATTTCATGTATTAAAAATGGCTATGTTACTTATAATATCGAATTGTAAAAAATTACTATCAAATATAGATGTTTAATTCTAAGATTTAAAATCTAGATTTCAAAATTTTGGAAAATGAATTGTTTTACAAAAAAGGATTATACTATGTTATTCATTAATGCAGTATAATTATAATATACTAATACTACATTAATTAACACTTTTTGCTGGGCTCAGTGGTTCATGCCTGTAATCTTAGCACTTTGGGAGGCTGAGGCGGGAGAGTTGCTTGAGGCCAGGAATTTGAGACCAGCCTGGGCAACATAGCAAGACCTCAACTCTACAGAAAATTTTTAAAAACTAGCTGGGTGTAGGGGTAAGCACATACAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGACTGCTTGAGTTCGGGAGTTCAATGTTACAGTGAGCTATGATTGCACCACTGCACTCCAGCCTGGGCAACACAGGGAGAACCTGTCTCAATTAAAAAACAAAACAAAACAAAGCATATTTTTTTCCTGGTTTGACCATTTAAAACAAAAGATTGGCAAATAAAACACATACCAGATTGAGCTAGGGTTTACTCTTGATATATATTTGGTTTCCATAGCTAGTGAAAGAAATTATTTCCCTCTATTCTAGGATGAAAAACACTTGAACATCACTGTTTTCCAGGAAGTAGGGTGTGACCTCTTTTCGACAGATGGGGTGAAAACACACAAGTGGACCAGCAGCTCCCGCCACAAATAAAGAGTCTGGAAATGCAGGGCCACTCATGGGCAGCAGCTTCTTGTCCAGTCGTCACCAATAAAGAGAATCCCCACCACGGTCCTAGTGCCAAGGTGGCCACTGAGTGCAACAGGTGGAAGAAAACGGAATCTTGAATAAGAAAACGTGTTCTACTCCCAACTGCTACCTTTCAACCCCAAGCGGTGCTGACATGAAAAATGGCATATAATGAGCTCTTCTACAGAGCAGGTAAATAAGCAGCGATCAAGACTGCTCATGTAAAAAAATAAAAATCATTCCTTTTCAATTCCAATAAAACAAAACTCAACTCCTCAGGAAAAACATACCAAGCCTAAGGCCACTGGGTAGGGAAATCCCAGAGATGACATGGTGTCCAACTGGATCTGCTCACCGAGGGGCAAATCACTAATTCAGATCTTTTGACTTAGAACTTATTTGGCTCCTGGAAACTTCTTTATGAAAAGAAACACAACCAGTCTGCTACAAATGACATTTCAGTAGCATATTTATAGAATAGTTGAAAGGAACAAAGAAACTGCCTTTGCTGCTTGATTCCACAATAAACTGTAAAGGGGGAAAACAAGCCCAAACCTCACACTGTGTATCCATAAAAAAACTGGCAGCTCCTGGCTTCACATGAACTCTAGGTACCCGCACAAGACCCTTCCCAGGCTGAGAGTCCTACCGTGCTGCCTGGGCCCCCTTGTCATCATCGGAGCTCACGCCTACATCACATGTGTCTTCTGCAGCAGCAGATGCGGCCTGCTCTTCCTTCTTACTGTCCTGTTTGTATTTCTTTCTCCTTCGTTTTTTCTTTTTCACAGAACTTGGAGTAAAAATTGTCTCTGTTTCCAAGACGTGTGAGATGTCTGAACTCTGAGATGGTGTTTCATCTCCACCCGATTTCACCAAAGGGGTGTCAATATCTTTAAAGAACTGATCTTCAGTAGGAATTGGTGAGGTGGCAAGGTAAGCAGGAAGCTTTTCCTTGAGGAGAATGGAGAAAGAAAAGTTATCCATGACAAACTCGACAGTGAATTAAAGCAGTAATATTTTGAATATATAAATTTTCACCATGGTAAAAAAAAAAAATACATATTCCCTAAAGGCAAGAAAGTCCCACTGAACTAAGGCACTGCCTACTATACTCTGACGAGGTCTTTCCCCTGTGAGGCAGCTAAGTACCAGCCCACTTGGGTACATGTAACTGAGTCCATCTGAAGGAACTGACATGCCAAGTCAGCATGGAACACCCCAAAGCCATAATTAAAGCTAAGCCTATTAAATTCTTCACAAAGCAAAGATCAAAGCAGCAACAAAAATCTCAGGAGGTGTTACAAAGGACTCTCTCAAGAACTCACACAGAACATTCAGAACAGGAAAAAGCAGAAGGCAGAGATTAAGGACACTACATCAGACAAAGGGCAGCAGGACAGGTGAGTGACGCGAGGATGCAGTGATACAGAGCGGCCAATGCTTATGTTTTGCCAAATTAATTGGAGAAAGGCAATTAGAGACAATACCGTGTAACAAATGACATTAGTAAATTTTTAAACCATAAAGCATTTATGTTTAAAAATAAGAAATATTCCTTCCTGTAGGAATTCAAAAGAAGAAAATAAGGCCCAATATTTAGAAGCAGTCAAACTCCTAATACTAAATAAACGATCAAGTCTGGTGTTCAGTAAATTCATGTCTTAGCCATTTGTTTCATTCCTTTTTGTATCATCAGAGGAAATGGAAGGTACATAATAGAGATAAAAATTAACTTCAGGCAGAACGTGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCCTGGTGATGCATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATTGCTTGGACCTGAGGGGGAGGTTGTAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAAAACAAACAACAAAAAAATTAACCTCATATAATTTAAAATACTCAAGCTTTTAAACAATAGTTCTGAAAATGTATAGGTTTCTGTAATTATTTTTTTATTAAGCTTTTGAACTTAGCTTTGATAAACATATTACCCTGAAGCTAAAGTTTGATTTAGCTAGGAGAAATCTGTGTTCACCAGAAACACACACTTACAGAGAAATTGTAATAAGATATTCTGAATGTCCAAAAGAAACCCAGATGAGAGGTCGTGGTCTCTGACTTTGAGGATTTTTAATTCAATGATCTTTATTTTACTTACTGAAAGCTCTTTTTGTTTCTGGTGGTATTTCTTAGTTCTATTATAGCAATGTTTGTAGGATGAAGATAACCTGAACGCCTACCAGCAAGAAAATGGTTAAACAAACTATGGTATGTCCATACTATGGAATACTGTGCAGCTATTAAAAGCACAGAGTTAGGTTTAGAACTAGACTTGAAAAGAATGTTGATGACATATAATTAAATGAGAAAAATCTGAGAGAAAAAAATCAAATAAATGGCAACAAACTGGGTTTTTGGTCATCTTTATCCTACTCTAAATGACGAACCCCTAGAGGAACAGAGGCATGTTGTATTCATAGCATGTGGCATAGAGTAGTAATTCCAACATTTGTTGGATAAATTAACAATTTTTTATTTTAAGGAGAAGCATACTACACAAGATAAACTCTGGTCAATGTAGTCATATGTGGAATAGGGAGAAAAAGGCTGGAAAGTTGACATTTTCCAAGTTGTCCTTGCTGAGCATAATTTTTAGCGGAACTGTCAGAATAAGCCATGAAAACGAGGTTAACATCAATAACCCAGTCCTCTCGCTTACGGTGCCTGCTGATCTAGAAGTTCAGTGTTATGAATTATAAATAATTTTAAGAAACATACAAAAAGTGGTTTTTTTTTTTGACAGATGTCATTTATTATGTTTCATTCTGCTCTTTGCCTCTGTCTCTGATAAGGAAAAATGTTGCTTAGGCCAAGTAAATGCAAACAAGGTATTACAAAGATAAGTAATGAAGAAACTAGAAAAAGCACCNN | benign | 286,965 |
Variant in gene LPIN2 (lipin 2), located at chromosome 18 position 2960705: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Majeed_syndrome'] | GTAGGAGGAAAAAAATTCTCTTTTCCTGTGTCTCATGAGTACATTCCTATTAAAAATGCAACGTTTTGACAAGATAGTAACACAACGATTGTGTAGCTTTTGCACAGGAATTGTATTATTTCCTAAATTAGAGGCACACAGCAAGCAGGAAAAGGTGTTTTATCTACTTGGTCACCATTTACAGATGCATACATGCTTATAAATACATCTGCCTTCAGGTTCCATTTTGAAAGGCCAGACACTGATCCAATGTGATAAAAAACAATCTCAGCAAAAAAAAAAAATAATGATGATGATACCTTATCAGCAGTTTTACAATAGATCCATACACAACTAATGGGAAATTTCAGTTTGTTGCCAATTCCCCCAGAACAGGTCCAGTCTGAAAGTACTATTGGTGTTACCACAAAGAAAGAAAAAATTTCAGAGAACCTAAACTATGGCTAAATAACACTGTTTTGCAATGGAAAGTTTCTAAGTCCCTAAGTAAACTGCAACTGCTTTTGCTTTCTAAAGGGTGACTCTGAACAGAGGCCAGACCACACAAGCCCTGCTACCCTGAAATGTGGTTCTCCAGTGGAAACTGATTTTGTAATACCTAGAAATGAGATGTTTTTCCTGGAGGAAAAAAAGAAAAAGAATATCTAGTTTTGTGAAATCCATTTTCTTTCACTCTCAAAATAACATTTAAGTTTAATTAAATAGAGGGAAATTTCTATTTAAAGCTCAGCTATATAAAATAGCAAAAAGCTGAAAATAAATGTTTTCGACTTACACCAGTGGTCCTCTACCACATACTTTTAGGTCTGTGCCAGAAAATGGTGAGGCTCTTTTGTTGTGCTTTAAAATGTTGACAAAGCCTTTCTATGTTATTTAAGTAGATACTGCGAGGCAAGAATAGAAAGAGAAATCTGTGTACCTGCCAAGTGTTATTACTAGCTCTGTTTTCTAATTTGATTGACATCAGATATACTAGCAAAACTTCCAGCTGCTCCATAACCTGAAGAGGATAAGAAAAACCTACACAAATATCTTCTTCCTGAATGAATCTTCCCTAAAACAAACAAAAGTCAACCAGCCTATGGTCTGTTGGTTAGCATTTCAGTCAAATATGGGGACAAGTCCTGGTATCAACAACAGAATTTAGATTACAAAAGTTTTTACAGCTTTGTCAAAACAAACAAAATGTGGCATTAATTAATTTCCTTTAAAAAAAAAAATATGGCCAGGTGCGGTGGCTCTACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCCGAAGCCGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGGGGGCATGGTTGCACGTGCCTGTAATCCCAGGCACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCGCTGTACTCCAGCCTGGACAGCAAAGCGAGACTCCGACTCAAAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCTTGATTATACCCACCTATTCCATTTACAATTAGTATGAAGGTATTAGCCTAAGTATTTAAAAATACTATATAAGGTAAAGGAAATTTTTCTTTTTCTAAATATGTCTAAGTTCCCCCATCTAGTTTCTGTTTTGCTTTTCTGAGTTGCAACATGTAAGATTATTATAATAATTTTCAGTTTCCCTTTCCCTTGAAGAGACTTCTGCAGTCGAGCTTTGTGGTTTTCAAAGTAACTTCAAAAGCAATACATAAAGGTTGACTTCTCGTAACATTGTCTCAACATCATTCAGGTTAAAAAAAAAAAAAGGCCTAGAAAACTCACAATAGCGATTTATTCATAGAGGATGACTTTTCTACTCCTTGAGGACACTCACTCACTTTCTCTTTGAATCTCAGGATGACTTTTCCTCTCCTTGAGGACACTCACCACTTTCTCTTTGGATCTCAGGACTCCCAGCTTTCCAAACCGAACGTGAAAAGGTGAACACTGATAGCTGCCATCCTGCTGCTGTACCACGATGACATCAATGCACCCAGAGAGGGTGGCCTGGTTAATGCCCTTGTAGAGTTCCTTCACAGTGACAATCACCTGCCCAGCCAGCTGTCCCACATAATTCATGGTTTGAGACTACAAGAAACAAAAATTAGATGAGATGTTAACACTAAATTTGTGATCTATTGACAAAGAAATAACAGTCGTAACAAAAATGACACTACTCACTTGTATGCCAGATTTCATATCATTAGCCTTATTAATTTTCAACCTAACAGTCTCATGCTACCATTGTTTCTACGCATTTCCACACACGGACCTCCCGAGACTATTCTCCTTTGTATCTGAGAGGCTGCTCCAGCCAGGGCCTGAGGCATTCCCTTTCCTTTCTCAGCAACCTGGATAGTACTGACTGCCATTAGGGACTTTTTCCCCAAAGTTCAGGATCAGCACAGAATCACCAAAGAACCCTGACCTCCTGCCCAAGACCCTTTGGAACCTGCGGCTACTGCATCCACTTTGGCCATAGCAGCCAAACAGAAAAAACAAACATCATCCCCGGGAGAAACCAGAGATTCATCTTCCAACAGAACCAATGTAATAAATTAGTGAGAGCTACATTTTGTAAGGAACTATTATTACCAGAATAGTATGGTTCGGACACATGCTAGATTAAATAAACTCTGGCAAGTCTGCCTGAGCCTAGCCCATTTATAACATTACTTCTACGGAAAAATCCCTTCAATGACTCAATATAACTAACTGGAACATGCAATCAAGTTCTACAAAGTTCAAAGCACAGAAAAGGGTTTTACTCTTGTTCCTCAACCTCAATTCACTATTCAAATCACAATCAAAAGGTCTGCAAGGAGTTCTCCAGAAAGGCTCAAAGGAGAGGAAGTACAGCTAAAGCCAGGGGTGGCTTTATTGCCTTGGCCCCATCCCCAACTTTTCCACTAATAAAAACCAAATCCCCCCCTTCAGTCCTAATGTCAGATTTTACTTCCAGCTACTGAATACACCCCCACATTTTATTCATTAGATGCTGACACCCCTAATATTATGCCAAAGCACAATTCAGTGAAAGCCATTCTGGGGACTGGAATGACAGAGAGTAACCAAGAGCCCCTCCAATGCTCCAGCTAATTCAGAGGCCAACTTTCACCCAACCACAGGACTGACTGACTGCTCTCCAGGCTGTCTGCCATAAGCAGCTCGTGGTTTCTCTACACCCAGCTTGGAGGCTGCCTTGAGCTTAAAGGTCCATGCTCTGAAAAGTTTCAGAGATCATGTTCTGTGTTGCCAAGTGAGTCCAAAACTGAACTGGGAGAAAGAATGCTGTCTTCTTGGGAAAACTCAGGGGCCTCCAGGATATCTGCCTGCACAGAAATTCACTCTGCTCTTCACAGATGAGTGGCCACGGCAGAGCCCTGATTCTAAATTGTTTCCTGTTCCTACACGCGGATGAATGTGTAATCAAGGCCCATCAGTTCTACACCATGAAGCATCGCCATGATAATTTTACCCTGGAAGAAATTTTTAAAATATTTTAAAACTAATGTTACCAAGGCCCTTAAATGCACCCATAGAAAAGCTGGAAAACGCTTGTGCTGCAAAACTTACTCCTAAATAACAAAATAAGATGACATCCTTTATGTGATATCAAACAATTATAATCTGGTGATGGTTTTGGAATAATTGATTTGACCTCAATAGCTAAACCAAATTAAGCATGTATCAAGTGCTCAATAATCATTTATTGAATGAATGAACAAATGAACTAGTAATAAATGAGACTAAAAAAATAAGAAACATAAAAAAAAAGTGTGGGGAGGAAATAGTGTTTCATCAAAATATTCATATAACATCCCATTATGTTTTTAATAATTAAATTCCTATTTTGAGGTCACTGTAGATTCACATGTGGTTCTAAAAAATAACACAGCTAGATCTCATGCATCCTTTTCATATTCTGTAGGTAATGCATATTCACAACATGCTTTTTACCTACATGGCACACACATGAATTAAACAGCAT | GTAGGAGGAAAAAAATTCTCTTTTCCTGTGTCTCATGAGTACATTCCTATTAAAAATGCAACGTTTTGACAAGATAGTAACACAACGATTGTGTAGCTTTTGCACAGGAATTGTATTATTTCCTAAATTAGAGGCACACAGCAAGCAGGAAAAGGTGTTTTATCTACTTGGTCACCATTTACAGATGCATACATGCTTATAAATACATCTGCCTTCAGGTTCCATTTTGAAAGGCCAGACACTGATCCAATGTGATAAAAAACAATCTCAGCAAAAAAAAAAAATAATGATGATGATACCTTATCAGCAGTTTTACAATAGATCCATACACAACTAATGGGAAATTTCAGTTTGTTGCCAATTCCCCCAGAACAGGTCCAGTCTGAAAGTACTATTGGTGTTACCACAAAGAAAGAAAAAATTTCAGAGAACCTAAACTATGGCTAAATAACACTGTTTTGCAATGGAAAGTTTCTAAGTCCCTAAGTAAACTGCAACTGCTTTTGCTTTCTAAAGGGTGACTCTGAACAGAGGCCAGACCACACAAGCCCTGCTACCCTGAAATGTGGTTCTCCAGTGGAAACTGATTTTGTAATACCTAGAAATGAGATGTTTTTCCTGGAGGAAAAAAAGAAAAAGAATATCTAGTTTTGTGAAATCCATTTTCTTTCACTCTCAAAATAACATTTAAGTTTAATTAAATAGAGGGAAATTTCTATTTAAAGCTCAGCTATATAAAATAGCAAAAAGCTGAAAATAAATGTTTTCGACTTACACCAGTGGTCCTCTACCACATACTTTTAGGTCTGTGCCAGAAAATGGTGAGGCTCTTTTGTTGTGCTTTAAAATGTTGACAAAGCCTTTCTATGTTATTTAAGTAGATACTGCGAGGCAAGAATAGAAAGAGAAATCTGTGTACCTGCCAAGTGTTATTACTAGCTCTGTTTTCTAATTTGATTGACATCAGATATACTAGCAAAACTTCCAGCTGCTCCATAACCTGAAGAGGATAAGAAAAACCTACACAAATATCTTCTTCCTGAATGAATCTTCCCTAAAACAAACAAAAGTCAACCAGCCTATGGTCTGTTGGTTAGCATTTCAGTCAAATATGGGGACAAGTCCTGGTATCAACAACAGAATTTAGATTACAAAAGTTTTTACAGCTTTGTCAAAACAAACAAAATGTGGCATTAATTAATTTCCTTTAAAAAAAAAAATATGGCCAGGTGCGGTGGCTCTACACCTGTAATCCCAGAACTTTGGGAGGCCGAGGCCGAAGCCGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTAGCCAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGGGGGGCATGGTTGCACGTGCCTGTAATCCCAGGCACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCGCTGTACTCCAGCCTGGACAGCAAAGCGAGACTCCGACTCAAAAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCTTGATTATACCCACCTATTCCATTTACAATTAGTATGAAGGTATTAGCCTAAGTATTTAAAAATACTATATAAGGTAAAGGAAATTTTTCTTTTTCTAAATATGTCTAAGTTCCCCCATCTAGTTTCTGTTTTGCTTTTCTGAGTTGCAACATGTAAGATTATTATAATAATTTTCAGTTTCCCTTTCCCTTGAAGAGACTTCTGCAGTCGAGCTTTGTGGTTTTCAAAGTAACTTCAAAAGCAATACATAAAGGTTGACTTCTCGTAACATTGTCTCAACATCATTCAGGTTAAAAAAAAAAAAAGGCCTAGAAAACTCACAATAGCGATTTATTCATAGAGGATGACTTTTCTACTCCTTGAGGACACTCACTCACTTTCTCTTTGAATCTCAGGATGACTTTTCCTCTCCTTGAGGACACTCACCACTTTCTCTTTGGATCTCAGGACTCCCAGCTTTCCAAACCGAACGTGAAAAGGTGAACACACACTGATAGCTGCCATCCTGCTGCTGTACCACGATGACATCAATGCACCCAGAGAGGGTGGCCTGGTTAATGCCCTTGTAGAGTTCCTTCACAGTGACAATCACCTGCCCAGCCAGCTGTCCCACATAATTCATGGTTTGAGACTACAAGAAACAAAAATTAGATGAGATGTTAACACTAAATTTGTGATCTATTGACAAAGAAATAACAGTCGTAACAAAAATGACACTACTCACTTGTATGCCAGATTTCATATCATTAGCCTTATTAATTTTCAACCTAACAGTCTCATGCTACCATTGTTTCTACGCATTTCCACACACGGACCTCCCGAGACTATTCTCCTTTGTATCTGAGAGGCTGCTCCAGCCAGGGCCTGAGGCATTCCCTTTCCTTTCTCAGCAACCTGGATAGTACTGACTGCCATTAGGGACTTTTTCCCCAAAGTTCAGGATCAGCACAGAATCACCAAAGAACCCTGACCTCCTGCCCAAGACCCTTTGGAACCTGCGGCTACTGCATCCACTTTGGCCATAGCAGCCAAACAGAAAAAACAAACATCATCCCCGGGAGAAACCAGAGATTCATCTTCCAACAGAACCAATGTAATAAATTAGTGAGAGCTACATTTTGTAAGGAACTATTATTACCAGAATAGTATGGTTCGGACACATGCTAGATTAAATAAACTCTGGCAAGTCTGCCTGAGCCTAGCCCATTTATAACATTACTTCTACGGAAAAATCCCTTCAATGACTCAATATAACTAACTGGAACATGCAATCAAGTTCTACAAAGTTCAAAGCACAGAAAAGGGTTTTACTCTTGTTCCTCAACCTCAATTCACTATTCAAATCACAATCAAAAGGTCTGCAAGGAGTTCTCCAGAAAGGCTCAAAGGAGAGGAAGTACAGCTAAAGCCAGGGGTGGCTTTATTGCCTTGGCCCCATCCCCAACTTTTCCACTAATAAAAACCAAATCCCCCCCTTCAGTCCTAATGTCAGATTTTACTTCCAGCTACTGAATACACCCCCACATTTTATTCATTAGATGCTGACACCCCTAATATTATGCCAAAGCACAATTCAGTGAAAGCCATTCTGGGGACTGGAATGACAGAGAGTAACCAAGAGCCCCTCCAATGCTCCAGCTAATTCAGAGGCCAACTTTCACCCAACCACAGGACTGACTGACTGCTCTCCAGGCTGTCTGCCATAAGCAGCTCGTGGTTTCTCTACACCCAGCTTGGAGGCTGCCTTGAGCTTAAAGGTCCATGCTCTGAAAAGTTTCAGAGATCATGTTCTGTGTTGCCAAGTGAGTCCAAAACTGAACTGGGAGAAAGAATGCTGTCTTCTTGGGAAAACTCAGGGGCCTCCAGGATATCTGCCTGCACAGAAATTCACTCTGCTCTTCACAGATGAGTGGCCACGGCAGAGCCCTGATTCTAAATTGTTTCCTGTTCCTACACGCGGATGAATGTGTAATCAAGGCCCATCAGTTCTACACCATGAAGCATCGCCATGATAATTTTACCCTGGAAGAAATTTTTAAAATATTTTAAAACTAATGTTACCAAGGCCCTTAAATGCACCCATAGAAAAGCTGGAAAACGCTTGTGCTGCAAAACTTACTCCTAAATAACAAAATAAGATGACATCCTTTATGTGATATCAAACAATTATAATCTGGTGATGGTTTTGGAATAATTGATTTGACCTCAATAGCTAAACCAAATTAAGCATGTATCAAGTGCTCAATAATCATTTATTGAATGAATGAACAAATGAACTAGTAATAAATGAGACTAAAAAAATAAGAAACATAAAAAAAAAGTGTGGGGAGGAAATAGTGTTTCATCAAAATATTCATATAACATCCCATTATGTTTTTAATAATTAAATTCCTATTTTGAGGTCACTGTAGATTCACATGTGGTTCTAAAAAATAACACAGCTAGATCTCATGCATCCTTTTCATATTCTGTAGGTAATGCATATTCACAACATGCTTTTTACCTACATGGCACACACATGAATTAAACA | pathogenic | 286,968 |
Determine whether the variant at chromosome 18, position 3067274, in gene MYOM1 (myomesin 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CTGGGCGCAGGGGTCTTAGGGCACACTTTGATTTCATACATTTTTGCACAATTTCAGAATTTGGAATACACTGTTTTAAAATTTTGTTTCCACCTGATTCAACACCCGTCTTGCTTTCTCCCCAGTCTGGGATCCAGCAGGTGGAAATTAGGGAAGGGGTGGGAGGTGCTGCTTGCAGAAACCTCACCTCTCTGACACTGGGAGCTCTGTTGCTGGCTTTTTGAGGGGTGTGGTGGGGGCTTTTCGGAGAGTCTTAGGGGCCTCTCGCTTGCACAGCCCTTGGCCCTTGGCATGGGAGGTCTGCCGCCGCTTGAACCTTTCCCACCCCCACCCCCACCCCGCCACCCTCCCATCTTTAGCTCCCCAGCAGGTGTCCACCCACTGGCAGTTTCCTTCCGGGTCAGCTTGTTCAGATGTAGCCCTCTTACTGAGGCAGGCAGAACCGCAGACTGCTCATGGCCAGCCACCTTCCATGGGGTCCGCTTGACCCTTGGGAAGCTCATCTCCTTGCCATATCTGGGAGTGAGAACACAGCATCTGGCTCCTGCCTGGTGTTCAGTGTCATAGCAGCAGCATCCAGCACTTGTTTGGACAAGTGGATTGGCCACAGTCAGATGAGAAGCAATTTCCAGCCTTAAACTTGTAAAGGAGAGGGTGTGTAGGAGCCCCTGCCAACTGTATAAGGAAATTTCTTGTCTCATCCGCTACCTTTGGCAGGAGAAAGAAGGGGAAAAAATTGTTTTTATGAGATGGTCTTGTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCATGGCTCATTGCAGGCTTGACCTCCCAGGCTCAAATGATCCTCCCACCTCAGCTTCCCAAGTAGCTGTGACTATAGGTGGGCACCACCACACCCAGCTGATTTTTAAAATTTGTTGTAGAGAGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTAGACTCAAGCAATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGATACTGCACCCAACAGAAAAAAACACCATGACGATTTTCCTAGAATGGTGTGTGTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGCTGGGGTTGGGGAGGACAAAACTTTCTACAACAGCTGCTGCTGGGATGCTGACCCTCAGCAAACCCCTCAGGGAGTGGCAATTTCCACAGCTGGCAGTTCTCTGAGCTCAGAATGAGGCTTCTTATGTACCTTTTATTCTTAGCTGTGGGCCCTTAGTCTCCAGTTCTGGCAGGAGGCGCCTCACACCATCTTATCACATGTAATTGTCACATTACATTCAATTGCCTTGTGTATCTTATTAATGGAATTGGCTTGATTGTGTGGTAAGCCACCAGATGTGCAGTGGCCGTGTAATTTCACACCCCTGAACCTCGTTGAGCTCAAACGACTTATCTGATCATGTTGCAAGGTACTGCTTTCACCAAAAGGAATTTAAATCAGAAGATGTGGCACAAGACGCGTTGAGAAAGAAGCACCAAGAAGCCACCCAACCTAGCAGCAAAACAGCAGGAATTTGAGAAACAGTGTCGGGGAAGAGGACAGACGTGAAAACTGTTTATTCATACAGAGGAGGTTCCAAGCCACGAGGCGCCCGTCGAAAAGCACATCACCTCTGTAACAACACACGAGACACGGCCATGGCTTCACAGCTGCAGCAAATCCCAATTCGCCCCACGACACATTCGTCTGCCCTCTGACCATCATTCAATGTCCCTCCAACTTCATTCAAGTCTTCTCCTTAAAACTGTTTCCTAATCTTCATGCTATGAATGGTATTTTCTTAACACATAATTTTGTAGATAAAGAAAAACAATTAAAGTGTCATTAGTTGGTGCTTTTTTATATGAGTGAAAGACCTGACATTATTTTCCCCTCAAGCCAGAAAATAATAGGGAGGAGAAAGCATGAAGACGTCTCATCCTTAACCCAAACCATTCACACCCAAGTCACACAGGCCGGCTGGCTCTCCTCGCACCTCCGGTCACTTGGCCTTCTTGCCACCTTTCAGGGACTCCAAGGCGGCCATCCTCGCCTCCTCCTCTGGGATGAACACGCTGACGGTGAAGTCGCTGGTCTCCGAGCCATACTTGTTCTTCACAACCAGCCCGTATTTGCCCGAGTCAGCGGTGCTCACGCCGTTGATGGTGAAGTACGCGGTCCTCCCAGCCTCGAACTTGAGGTTGCAGTGGTCGTCTGAGGCCAGGGCCTTCTCGTTCTTCAACCACGACACCTCCGGAGGCGGGTCTCCCCACACGTTGCAAGTGAGATTAAGGGCCTGCAAGACAGGTTTTATGGGAGAGAAGAAGATAAATTAGATGTAATAGACACACTGTCAACAATCTTGCCGGCTGGTGGCTTGGCATGACCAAAGGGAGGATAAGTAAAAGCCTCCCGGACCAGGGTTTAAAGTAGTTCTGTGTATGCACCTGTGTGAGTTACAGTTTGAAATAACATGTGAGGGGATCTCCTCAAGGCCTTTTAATGCTCCTCAAGGCCTTTATATGCTTTCTGGCTTCTGGAATGCTTATTATCAAAAACACACGAAAGAGTTTATGTCTATTCCCCATTTTCACTTTCTCTTTCATAAACATATAGATGCCTTTTGCTCTATTGTGGCATTTTGGGTTCTGTCTCGGTACAGGAATCTCATTGCTGTAATTGCCACCTGCTCACTTTTGCCTTTCATTTGCATCAAAGAGCCGGGCAGCAGAATCACGGCAGCTGCTTCAGATAATGTTACTGATTTTCAAATTCCACCACCCTTATTTTACTTCTCTCCTCAAAGCCCATCCAATCTGCTGCAGTTGCAGTGGTCCCCTACCAAAACGTATTCCTAAAGAAAATATTCCCATCTGTGCTGAAACCTTATTCTAAAAGATCGATATTCTAGATATGTATGTAGACACAAGGTCTACAGTTTTATTTTACCTTACTTTTTTTAATTGAAAAGGATTTAGATAATTGTAAATTCACATGCAGTTGTAAGAAATAATAAAGAAATCCATAAGAAATAATAAAGAGATCTGGTATGCTGTCTACCCAGCTTCCCAGTGGTAACATTTTACAAAACTATAGTAGAATGTCATAACCAGTATATTGACATTGATGCAATCCACCGACCTTATTTAGATTTCTCTAATTTTACTGGTGCTTATTTGTGTTTGTGTGTGTTTCATTCTATTCAATTTACAGAATATTTTCATCACCACAAGAACCCCTTGCGTTGTCCTTTTATACCCACACCCACCTCTCCTCCAACTTCCAAACTCTGTTCCTAATCTCTGGCAACCACTCATCTGTTTTCCATTTCTAAAATTTTGTCAGGTCAAAGATATTATATAAATAGAATCATGCACTGTATAACCTTTCAGAATAACCTTTGTAACTCAGCATAATTACATCCAGATTCATCCAAGATGCTGCATGTATCGATAGTTTATCCCTTGTTCTTGCTGACTAGAATGTCATACTATGTTTATGCCCGTAAGGGTCATCTGAGCTTTTTCCAGTTTTAACTATGATGCACTAAGTTGCTATGAACATTTGTGTACAGGTTTTTATGTGAGCATAAGCTGTCATTTCTCTGGGATAAATGCCCAGGGATACAATTGCTGGAATGTATGATAAATGCATGTTTCATTTTTTCTTTATTTTTTTTAATTAAAAAAATAGAGAATAGAGATGGGGTCTCATTATGTTGACCAGGCTGGTCTTGAACTCCTGGTCTCAAGCAATCTTCCCATCGTGGCCTCCCAAAGTGCTGAGATTACAGGCATGGGCCACCACACCCAGCCCATGTTTTCTTTTTTTTTCCCAGAAATTGCCAAACGGTTTTTCTGAGCGGCTATACAATTTTGGCTTACATTCCCACCAGAATATACAAGTGATTCGGTTTCTCCACAGCCTCCCCACCATTTGTTGTTGTACACCAGCCCACCCAGCTACTATTCTTTATTACAGCAATTCTGATAGGTGTGGTGTGATATTTCATTGTGGTTTTAATGTTCACTTGCCTGGTGGTTAATGATGTTGAATTTACTT | CTGGGCGCAGGGGTCTTAGGGCACACTTTGATTTCATACATTTTTGCACAATTTCAGAATTTGGAATACACTGTTTTAAAATTTTGTTTCCACCTGATTCAACACCCGTCTTGCTTTCTCCCCAGTCTGGGATCCAGCAGGTGGAAATTAGGGAAGGGGTGGGAGGTGCTGCTTGCAGAAACCTCACCTCTCTGACACTGGGAGCTCTGTTGCTGGCTTTTTGAGGGGTGTGGTGGGGGCTTTTCGGAGAGTCTTAGGGGCCTCTCGCTTGCACAGCCCTTGGCCCTTGGCATGGGAGGTCTGCCGCCGCTTGAACCTTTCCCACCCCCACCCCCACCCCGCCACCCTCCCATCTTTAGCTCCCCAGCAGGTGTCCACCCACTGGCAGTTTCCTTCCGGGTCAGCTTGTTCAGATGTAGCCCTCTTACTGAGGCAGGCAGAACCGCAGACTGCTCATGGCCAGCCACCTTCCATGGGGTCCGCTTGACCCTTGGGAAGCTCATCTCCTTGCCATATCTGGGAGTGAGAACACAGCATCTGGCTCCTGCCTGGTGTTCAGTGTCATAGCAGCAGCATCCAGCACTTGTTTGGACAAGTGGATTGGCCACAGTCAGATGAGAAGCAATTTCCAGCCTTAAACTTGTAAAGGAGAGGGTGTGTAGGAGCCCCTGCCAACTGTATAAGGAAATTTCTTGTCTCATCCGCTACCTTTGGCAGGAGAAAGAAGGGGAAAAAATTGTTTTTATGAGATGGTCTTGTTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCATGGCTCATTGCAGGCTTGACCTCCCAGGCTCAAATGATCCTCCCACCTCAGCTTCCCAAGTAGCTGTGACTATAGGTGGGCACCACCACACCCAGCTGATTTTTAAAATTTGTTGTAGAGAGGGGTCTCGCTGTGTTGCCCAGGCTGGTCTTGAACTCCTAGACTCAAGCAATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGGTGTGAGATACTGCACCCAACAGAAAAAAACACCATGACGATTTTCCTAGAATGGTGTGTGTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGCTGGGGTTGGGGAGGACAAAACTTTCTACAACAGCTGCTGCTGGGATGCTGACCCTCAGCAAACCCCTCAGGGAGTGGCAATTTCCACAGCTGGCAGTTCTCTGAGCTCAGAATGAGGCTTCTTATGTACCTTTTATTCTTAGCTGTGGGCCCTTAGTCTCCAGTTCTGGCAGGAGGCGCCTCACACCATCTTATCACATGTAATTGTCACATTACATTCAATTGCCTTGTGTATCTTATTAATGGAATTGGCTTGATTGTGTGGTAAGCCACCAGATGTGCAGTGGCCGTGTAATTTCACACCCCTGAACCTCGTTGAGCTCAAACGACTTATCTGATCATGTTGCAAGGTACTGCTTTCACCAAAAGGAATTTAAATCAGAAGATGTGGCACAAGACGCGTTGAGAAAGAAGCACCAAGAAGCCACCCAACCTAGCAGCAAAACAGCAGGAATTTGAGAAACAGTGTCGGGGAAGAGGACAGACGTGAAAACTGTTTATTCATACAGAGGAGGTTCCAAGCCACGAGGCGCCCGTCGAAAAGCACATCACCTCTGTAACAACACACGAGACACGGCCATGGCTTCACAGCTGCAGCAAATCCCAATTCGCCCCACGACACATTCGTCTGCCCTCTGACCATCATTCAATGTCCCTCCAACTTCATTCAAGTCTTCTCCTTAAAACTGTTTCCTAATCTTCATGCTATGAATGGTATTTTCTTAACACATAATTTTGTAGATAAAGAAAAACAATTAAAGTGTCATTAGTTGGTGCTTTTTTATATGAGTGAAAGACCTGACATTATTTTCCCCTCAAGCCAGAAAATAATAGGGAGGAGAAAGCATGAAGACGTCTCATCCTTAACCCAAACCATTCACACCCAAGTCACACAGGCCGGCTGGCTCTCCTCGCACCTCCGGTCACTTGGCCTTCTTTGCCACCTTTCAGGGACTCCAAGGCGGCCATCCTCGCCTCCTCCTCTGGGATGAACACGCTGACGGTGAAGTCGCTGGTCTCCGAGCCATACTTGTTCTTCACAACCAGCCCGTATTTGCCCGAGTCAGCGGTGCTCACGCCGTTGATGGTGAAGTACGCGGTCCTCCCAGCCTCGAACTTGAGGTTGCAGTGGTCGTCTGAGGCCAGGGCCTTCTCGTTCTTCAACCACGACACCTCCGGAGGCGGGTCTCCCCACACGTTGCAAGTGAGATTAAGGGCCTGCAAGACAGGTTTTATGGGAGAGAAGAAGATAAATTAGATGTAATAGACACACTGTCAACAATCTTGCCGGCTGGTGGCTTGGCATGACCAAAGGGAGGATAAGTAAAAGCCTCCCGGACCAGGGTTTAAAGTAGTTCTGTGTATGCACCTGTGTGAGTTACAGTTTGAAATAACATGTGAGGGGATCTCCTCAAGGCCTTTTAATGCTCCTCAAGGCCTTTATATGCTTTCTGGCTTCTGGAATGCTTATTATCAAAAACACACGAAAGAGTTTATGTCTATTCCCCATTTTCACTTTCTCTTTCATAAACATATAGATGCCTTTTGCTCTATTGTGGCATTTTGGGTTCTGTCTCGGTACAGGAATCTCATTGCTGTAATTGCCACCTGCTCACTTTTGCCTTTCATTTGCATCAAAGAGCCGGGCAGCAGAATCACGGCAGCTGCTTCAGATAATGTTACTGATTTTCAAATTCCACCACCCTTATTTTACTTCTCTCCTCAAAGCCCATCCAATCTGCTGCAGTTGCAGTGGTCCCCTACCAAAACGTATTCCTAAAGAAAATATTCCCATCTGTGCTGAAACCTTATTCTAAAAGATCGATATTCTAGATATGTATGTAGACACAAGGTCTACAGTTTTATTTTACCTTACTTTTTTTAATTGAAAAGGATTTAGATAATTGTAAATTCACATGCAGTTGTAAGAAATAATAAAGAAATCCATAAGAAATAATAAAGAGATCTGGTATGCTGTCTACCCAGCTTCCCAGTGGTAACATTTTACAAAACTATAGTAGAATGTCATAACCAGTATATTGACATTGATGCAATCCACCGACCTTATTTAGATTTCTCTAATTTTACTGGTGCTTATTTGTGTTTGTGTGTGTTTCATTCTATTCAATTTACAGAATATTTTCATCACCACAAGAACCCCTTGCGTTGTCCTTTTATACCCACACCCACCTCTCCTCCAACTTCCAAACTCTGTTCCTAATCTCTGGCAACCACTCATCTGTTTTCCATTTCTAAAATTTTGTCAGGTCAAAGATATTATATAAATAGAATCATGCACTGTATAACCTTTCAGAATAACCTTTGTAACTCAGCATAATTACATCCAGATTCATCCAAGATGCTGCATGTATCGATAGTTTATCCCTTGTTCTTGCTGACTAGAATGTCATACTATGTTTATGCCCGTAAGGGTCATCTGAGCTTTTTCCAGTTTTAACTATGATGCACTAAGTTGCTATGAACATTTGTGTACAGGTTTTTATGTGAGCATAAGCTGTCATTTCTCTGGGATAAATGCCCAGGGATACAATTGCTGGAATGTATGATAAATGCATGTTTCATTTTTTCTTTATTTTTTTTAATTAAAAAAATAGAGAATAGAGATGGGGTCTCATTATGTTGACCAGGCTGGTCTTGAACTCCTGGTCTCAAGCAATCTTCCCATCGTGGCCTCCCAAAGTGCTGAGATTACAGGCATGGGCCACCACACCCAGCCCATGTTTTCTTTTTTTTTCCCAGAAATTGCCAAACGGTTTTTCTGAGCGGCTATACAATTTTGGCTTACATTCCCACCAGAATATACAAGTGATTCGGTTTCTCCACAGCCTCCCCACCATTTGTTGTTGTACACCAGCCCACCCAGCTACTATTCTTTATTACAGCAATTCTGATAGGTGTGGTGTGATATTTCATTGTGGTTTTAATGTTCACTTGCCTGGTGGTTAATGATGTTGAATTTACT | benign | 286,975 |
Regarding the variant at chromosome 18 and position 3129532, affecting gene MYOM1 (myomesin 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | TTATTAGGAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAATCACCACACCTGGCCCAGAATTTCCATATATTTCTCAAATGGTTAGCCTTTCACCATTCAGGCACACTTACCCTTGTGAGACCTTACAACTACACAACTCTGTCTGCACACAAGAAAAAAATTTACTCTAGAGCTCAGCTAAATGACAGCTTTAGAAAACATTTTTAAAAAACAGACACAATCTGCTATGTGACTTTCTCTTAGTGTATAATACTTTTATCACATTATTTTTAATCTGATGTTGGAATATTTTTCATGTGGTACAATACTATACAGCTGTCACCATGTTTATCAGTGCTTAGCTAGAAAAATATCTGGAGGATATTTCAAAAGTCCTCCTTCATTTATGTGGCTTTGCTGATCAGCTTTTCACTCAACTACTGAAATTACAGTTTTCAATGAAGAGAGGGGGTGAAGTGGTGGAAAGAAATACATCTAGATATGCAATAACATCGAAGAGAATTTTCTGAATGTTTATTTGGATTATAGGAGATAAAGAAACTATCTCATTCTTACCCAAAAAGAGTATCAGAAGAATGAAGGCTTTTAAAATAAAATACATTTATCTCTTCTCCACTTACCAACCTCCTTTATTCCTCACATTTTAAAAAAGCTTTCTCTCTCTCCCTCTATTTCAGAGCATTGTTGAATATGTGCTCTCAAATGAATATCTCCTCTCGAGTTGAGGGACAAAGAAAGGTGTCATAAAACAGAGGAGGTTATAGAAGTTGGGGTGGGGTTAGAAAAAAGAACTGGATGAGAGGCATTTAAAAATTTATCAGCACATGTGCTTCAGTTCATTGTTGTTTGATAGGAAAAACAATGTCTCCTAGGATATATTAGCCACAGGTACCAAATATCCTAATCAGATCATTCTTAGCCTACTGATAAATCATCTTAAATAAATCACTTCTGGGAATGAGGATCATATATCATACAATATAGCTATATGTGATTATAATTTTAACTTTTAAACTTTTCATGGTAACTCAAAGATATATTTATAGCTGTTTTTTTCTTTTCTTTTTTCATTTCAAAAAGTAGTAGGTAAGTAGCTATTTAGATTATTATTATTTTAGAAATTTTTAATCTTTTTATATACTTTTTTCACTTAAAGTATTTAATTTTCCAGTGTTGATTTTTCTTGCAAACTATTTAAATTAAATGTGAATAATCGCTTAATAATCTGAGGATGAGCAAGAAGGTAACAACTATGACCCTGGTACGATGTCACCTTCTTTGTGAGATCTTTCTCCTCTACATGTTCCAAACATGACTATTTCAAAGGACCTCACACAGGCTAGCAGTACCAAGTCCTGCTCTCACATCGAATTCTCTTAGCAAAATCAGGCCAGAGGTGTATCTGCCTGACAAACCAAGAAAGGCTCTATAACCAAATTACTTGAAACATTCTAGCATCATTAAGCACCCAAAATGATGTGTACAAGCCAAACCCATAGACAATTACTTTTCCAAGTCATCAGATGAAAGTACACATTTCAGATGGCTAGCTGAAAACACATACAATAAGAATGGACATTGATGAAAGCAAACATGGATGAAGGATGTGATGTAGACGATGAGAGGTGAGGACAGTGATGGAGACGGATGGAACAGCTTCCCTTTCTCAACTCTCACCTCTGTCTGTCTTCTTTTTCAGGGGGTCAGACTTACTTTTCCCCTGAGGAGCCGCTTTCTGTGGTGGCGGGGTAAGCTCTTCCTGAACTGTTTCACTTACTTTACTCACTTCTGTTTGGCCCAGGTTTTGAGAGCTACTGGGTAGTGAAGGTTTGTTAGGTTTGCTGCCAAGCAAAGCATCTTTCTGGAAGGTTGGCGGGGAGGCTTCATGCACGCGCCCCCTGGAGGCGGTTAGTCCACCAGGCTCATCGCTCAGTGCGGGACACACATCTGGAGACACTCCTCCCCCTACAGTTGCCAGACAACAACAGAAACGCATTGAGCCCGGACAGAGTATCAGCTGCTCTTATAGGATAGAACAAAGAGAAAAACATTAGGACCACAAGCAGAACAAAAACAGTCTTGGCTTAAAGAAAATCGCTCACATTTGCAAGAAATATGGAAAGACTACATTTCACACAATATACGCCAAGGAACATTTCACCTTCCCCGTATTCTGGAAAAAGAAGAAATGAGAACAAAGAAGCCAAAGATAGAATAGGAACCATTTCGATTTGCAGAACCCAAAGGGCTTTTAGTATATATAAGGAAAAGCAAATCTTAGACACAAATATTGAGAGATGTAAGCCCTATTATTCAACAGAATGAAAAAAGGACTATAAAGTGCACAAGAGACATCATATTAAAGATCCTAATTTTATAACACCTCGAATTATGTGCAGTACTACAATAGTAATGGTCTGTACCTCTCAACCTCAAAGAGACATGTTTAGAATGGTTCACATTATAAGGAATCTTCCTTCCTTCGTTTTCTTTCTTCTTTTTTTTTTTTTTGGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCACTGGCGCAATCTCGGCTCACTGCAACCTCCACCTTCTGGGTTCAAACAATTCTCGTGCCTCAGCCTCCTAAGTAGCTGGGATTATAGGCATGCACCACCATACCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTAGCCATGTAGGCCAGGTTGATCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGATCCCTATGTTATAAGGAATATGAAAAAGCTATATGAGATGCTAACTGAAGACAATCAATATTAAATCAGCTTTTTAAAAAACATGCGTTACTATATAATAAATTTTATTTTATTTATTTATTTATTTCAGACACAGGATCTTGCTTTGTTGTCCAGGGTGGAGTGCAGTGGTGAGATCATAGTTCACTGCAGCCTTGAACTCTTGGACTCAAGTGATCCACGTGCCTCAGCCTTCTGAATAGCTGGGACTACAGACATGCACCACCATGCCTGGCTAATTTTTTTTATTGTTATTTTTAGAAATGGGATTTCACTATGTTGCCCAAGTTGGTCTCAAACTCCTGGACTCAAGCAATCTGCCTGCCTCTCCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCCCCGTGCTCAGCCCACAAATATTATTTGTATTGTTTCTAACCACCTGGGTCCCTTTTCTACTTTATCCAAGATTGGGAGGTACATCACATACACACATATAATTACTTTATTACTGGTTTTATTCTGTTGGTTACTTTGCAAGCAAAGATGAAACATATGATTAAGCAATTACATGTGCCTTGCATGAATTTTAGAGGGGTTTATAAGAAGCATGTTAATGTTCTGTTAGCAAAAACAAGCCAGGCTCTGGCATAGACCAAATGGCTTTTAGGGACAAGATGATCTGTGTTATGGGTGATATACCACTTCATGGAATCGGAATGGCCCTTCACAGTCCCAGGATGAGCATGAAGTTAGAATGGAGTTTCACACAATGTGAAATATCTGAGGAAACTTGGGTTCGTGAAGATGAAAAGGCTATGGATGCACAGAATCTGGATAAGTGATGAAGGTCTGTAAAATGGCAGCTATGGAAGGTTAGACATCACCTAGAGTCAGAGAAAATGATCATCTAAGGATGCAATCATCCAGCAATATTGGAAGCTAAATAATTTCTGGAGAGGATGGTATCTTCCTTTCTAACATAGAAAAATCCATTTTTCCCCCATACAGTTATGCATAAGGAACTTACCAATAGCAGCTTTGACTTCAATAGCTTCTGAATCCTGGGAATATTCACTAAGTCCAGCTGCATTGACTGCTCTGACCCGGAAAATATAACTCTGACCAGTCACTAATCCATGACAAGTGAATCTAAAAGGAAAACAAGTTTTAAAAAATTTTCCTAGGAGGAAGATTAAGGAAGATGATTGTTAGCTTAATGGAGTGGATCTGGC | TTATTAGGAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAATCACCACACCTGGCCCAGAATTTCCATATATTTCTCAAATGGTTAGCCTTTCACCATTCAGGCACACTTACCCTTGTGAGACCTTACAACTACACAACTCTGTCTGCACACAAGAAAAAAATTTACTCTAGAGCTCAGCTAAATGACAGCTTTAGAAAACATTTTTAAAAAACAGACACAATCTGCTATGTGACTTTCTCTTAGTGTATAATACTTTTATCACATTATTTTTAATCTGATGTTGGAATATTTTTCATGTGGTACAATACTATACAGCTGTCACCATGTTTATCAGTGCTTAGCTAGAAAAATATCTGGAGGATATTTCAAAAGTCCTCCTTCATTTATGTGGCTTTGCTGATCAGCTTTTCACTCAACTACTGAAATTACAGTTTTCAATGAAGAGAGGGGGTGAAGTGGTGGAAAGAAATACATCTAGATATGCAATAACATCGAAGAGAATTTTCTGAATGTTTATTTGGATTATAGGAGATAAAGAAACTATCTCATTCTTACCCAAAAAGAGTATCAGAAGAATGAAGGCTTTTAAAATAAAATACATTTATCTCTTCTCCACTTACCAACCTCCTTTATTCCTCACATTTTAAAAAAGCTTTCTCTCTCTCCCTCTATTTCAGAGCATTGTTGAATATGTGCTCTCAAATGAATATCTCCTCTCGAGTTGAGGGACAAAGAAAGGTGTCATAAAACAGAGGAGGTTATAGAAGTTGGGGTGGGGTTAGAAAAAAGAACTGGATGAGAGGCATTTAAAAATTTATCAGCACATGTGCTTCAGTTCATTGTTGTTTGATAGGAAAAACAATGTCTCCTAGGATATATTAGCCACAGGTACCAAATATCCTAATCAGATCATTCTTAGCCTACTGATAAATCATCTTAAATAAATCACTTCTGGGAATGAGGATCATATATCATACAATATAGCTATATGTGATTATAATTTTAACTTTTAAACTTTTCATGGTAACTCAAAGATATATTTATAGCTGTTTTTTTCTTTTCTTTTTTCATTTCAAAAAGTAGTAGGTAAGTAGCTATTTAGATTATTATTATTTTAGAAATTTTTAATCTTTTTATATACTTTTTTCACTTAAAGTATTTAATTTTCCAGTGTTGATTTTTCTTGCAAACTATTTAAATTAAATGTGAATAATCGCTTAATAATCTGAGGATGAGCAAGAAGGTAACAACTATGACCCTGGTACGATGTCACCTTCTTTGTGAGATCTTTCTCCTCTACATGTTCCAAACATGACTATTTCAAAGGACCTCACACAGGCTAGCAGTACCAAGTCCTGCTCTCACATCGAATTCTCTTAGCAAAATCAGGCCAGAGGTGTATCTGCCTGACAAACCAAGAAAGGCTCTATAACCAAATTACTTGAAACATTCTAGCATCATTAAGCACCCAAAATGATGTGTACAAGCCAAACCCATAGACAATTACTTTTCCAAGTCATCAGATGAAAGTACACATTTCAGATGGCTAGCTGAAAACACATACAATAAGAATGGACATTGATGAAAGCAAACATGGATGAAGGATGTGATGTAGACGATGAGAGGTGAGGACAGTGATGGAGACGGATGGAACAGCTTCCCTTTCTCAACTCTCACCTCTGTCTGTCTTCTTTTTCAGGGGGTCAGACTTACTTTTCCCCTGAGGAGCCGCTTTCTGTGGTGGCGGGGTAAGCTCTTCCTGAACTGTTTCACTTACTTTACTCACTTCTGTTTGGCCCAGGTTTTGAGAGCTACTGGGTAGTGAAGGTTTGTTAGGTTTGCTGCCAAGCAAAGCATCTTTCTGGAAGGTTGGCGGGGAGGCTTCATGCACGCGCCCCCTGGAGGCGGTTAGTCCACCAGGCTCATCGCTCAGTGCGGGACACACATCTGGAGACACTCCTCCCCCTACAGTTGCCAGACAACAGAAACGCATTGAGCCCGGACAGAGTATCAGCTGCTCTTATAGGATAGAACAAAGAGAAAAACATTAGGACCACAAGCAGAACAAAAACAGTCTTGGCTTAAAGAAAATCGCTCACATTTGCAAGAAATATGGAAAGACTACATTTCACACAATATACGCCAAGGAACATTTCACCTTCCCCGTATTCTGGAAAAAGAAGAAATGAGAACAAAGAAGCCAAAGATAGAATAGGAACCATTTCGATTTGCAGAACCCAAAGGGCTTTTAGTATATATAAGGAAAAGCAAATCTTAGACACAAATATTGAGAGATGTAAGCCCTATTATTCAACAGAATGAAAAAAGGACTATAAAGTGCACAAGAGACATCATATTAAAGATCCTAATTTTATAACACCTCGAATTATGTGCAGTACTACAATAGTAATGGTCTGTACCTCTCAACCTCAAAGAGACATGTTTAGAATGGTTCACATTATAAGGAATCTTCCTTCCTTCGTTTTCTTTCTTCTTTTTTTTTTTTTTGGAGTCTCACTCTGTCCCCCAGGCTGGAGTGCACTGGCGCAATCTCGGCTCACTGCAACCTCCACCTTCTGGGTTCAAACAATTCTCGTGCCTCAGCCTCCTAAGTAGCTGGGATTATAGGCATGCACCACCATACCCGGCTAATTTTTGTATTTTCAGTAGAGACAGGGTTTAGCCATGTAGGCCAGGTTGATCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGATCCCTATGTTATAAGGAATATGAAAAAGCTATATGAGATGCTAACTGAAGACAATCAATATTAAATCAGCTTTTTAAAAAACATGCGTTACTATATAATAAATTTTATTTTATTTATTTATTTATTTCAGACACAGGATCTTGCTTTGTTGTCCAGGGTGGAGTGCAGTGGTGAGATCATAGTTCACTGCAGCCTTGAACTCTTGGACTCAAGTGATCCACGTGCCTCAGCCTTCTGAATAGCTGGGACTACAGACATGCACCACCATGCCTGGCTAATTTTTTTTATTGTTATTTTTAGAAATGGGATTTCACTATGTTGCCCAAGTTGGTCTCAAACTCCTGGACTCAAGCAATCTGCCTGCCTCTCCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCCCCGTGCTCAGCCCACAAATATTATTTGTATTGTTTCTAACCACCTGGGTCCCTTTTCTACTTTATCCAAGATTGGGAGGTACATCACATACACACATATAATTACTTTATTACTGGTTTTATTCTGTTGGTTACTTTGCAAGCAAAGATGAAACATATGATTAAGCAATTACATGTGCCTTGCATGAATTTTAGAGGGGTTTATAAGAAGCATGTTAATGTTCTGTTAGCAAAAACAAGCCAGGCTCTGGCATAGACCAAATGGCTTTTAGGGACAAGATGATCTGTGTTATGGGTGATATACCACTTCATGGAATCGGAATGGCCCTTCACAGTCCCAGGATGAGCATGAAGTTAGAATGGAGTTTCACACAATGTGAAATATCTGAGGAAACTTGGGTTCGTGAAGATGAAAAGGCTATGGATGCACAGAATCTGGATAAGTGATGAAGGTCTGTAAAATGGCAGCTATGGAAGGTTAGACATCACCTAGAGTCAGAGAAAATGATCATCTAAGGATGCAATCATCCAGCAATATTGGAAGCTAAATAATTTCTGGAGAGGATGGTATCTTCCTTTCTAACATAGAAAAATCCATTTTTCCCCCATACAGTTATGCATAAGGAACTTACCAATAGCAGCTTTGACTTCAATAGCTTCTGAATCCTGGGAATATTCACTAAGTCCAGCTGCATTGACTGCTCTGACCCGGAAAATATAACTCTGACCAGTCACTAATCCATGACAAGTGAATCTAAAAGGAAAACAAGTTTTAAAAAATTTTCCTAGGAGGAAGATTAAGGAAGATGATTGTTAGCTTAATGGAGTGGATCTGGCNNN | benign | 287,118 |
Mutation at chromosome 18, position 3164452, within MYOM1 (myomesin 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTACTTGCCCTGCTTTCCCTACCCAAGGAAACTCCAATAAAGGGCTTGGTCTAGGCACTCCTTTGCTCCTCCTGCCCCTTCTGACTCATGACTGACACTGGCACTTTCCCACGTGTCCCAGCTGTTCCTGTTCTAGGACCTGTGAGTATTATAAACATTGTTTTCTTGTGCCTCTACTAGATCTCTTCTTATGACTGCACCTGACTAATCATGCCATAAAAAAACACAGAACACTACCCTGGTAGCCTAAAAGTGCTAATGGTCTTCCCAAGTGCTAGGATCCCGTGGAGGAATAATATTCCACATGTGCATATCCAATCCATTTAAGACACCACTGAAAAGGCCGGGCGTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACCGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGCAAGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCAAGCCACTGCACTGCACTCCAGCCTGGGTGACTGAGACTCCCACTCAAAAAAACAAAAAAAAACAAAAAACCACACACCACTGAAAAAAAGAAAGACTCCTAAAGTCAACAATTTTGGTTTGTCTCAAGAATTAAGCTGAAACCCCTTGCTTCCTAGTTCATCAAAACAGAGGCTATAAAGTTCAGTTATGGGCCAAGGGACCTGAAATGAAATAATAAATTTACTCTCTGAAATACACATTAAAGACTTACACCCAAAATAACAGATCCCTCTTTTGCAGCAGCTTCCTTAAACTGAGATGGCTGGTATCATTAGGATTTAGCATCTCCACCGGAACAGTCATAGGGAACTGTACTAGCAGCTCCCTGAAGACGAAGAAAGTCCTGATATTAATGATGGAAACATGGTCTGGAAAATGGTGACTTTTGAGTTGGTGCCCTCAGGGCTCACCTTTTACACTAGGTCTACTTTTTTTTTTGTTTTTCTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTCAGCCAACTTGAACTTCTGCCTGCCAGGCCCAAGCCATCCTCCCACTCCAGCCTCCCAAGTAGCTGAGACTACAAGCGCGCACCACCATGCCCGGCTAATTTTTTGTATTTTTTGTAGAGATGAGATTTTACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCACACATCTCAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGGGCCTAGGTCTATTTTATTGGAAACGAACATATTCTTATTCAATGTAATCTGCAAGAATTTCCTTTTTCTTTTCTTTCTTTTTTTTTTGGTTTTGTTTTGTTTTGTTTCATTTTGTTTTGTTTTTTGAGACGGGGTCTTGTTCTATCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACTTCTCGGGCTTGAGTGATCCTCCCTCTTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCATGCCGCCATGCCCAGCTAATCAAAAAAATTTTTTTTTGTAGAAATGGGTTCTTGCCTATGTTACTGGGCTGGTCTTGAATCCCTGGGTTCAAGAGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACATTGCACCCTGCCAGAATTTTGAAATGACTCTTCCATCATTATGAAACATGTTTGAACTGTTTTGTAATCAAAAACTGCTTTGGCTTCAGTGTACTAAATATTGTTAGGTGTTTTGTTTTTTGCTAGGACTTACCTCGAACAAAGACATAAGCACTATATTGTTCATAATATTCTCCCATCCGTACACGGATTGTATAGAGGCCTTCATCTTCTTTGTTGAGATGGGAAAATGTCAGCGTTGCCCGCTCTCCACTCCAAAGTGTTTGCACCCATTTTGATGGAGAAAGAGGTACTCCTAGAAATATTTTAAAAGTAAGCAAATTAACTTATTTTTGTTTTATAACTTCCTTCTTGTCTCCCCTCCATTCCTCTCCTTAGCCTTTTCTATAATGAAAGTAATTTAACTACTAGAGGAAGTCTCTAGGACTTTGAGCCATCCTGATATGTTTACATTGGTAAAAATACTGGACCAAAAGTAAGGGGATAAGGGGCAGACACATAATCCGCAGGGGCCTCGTGTAAAATTACATTACAAGGCCCCTTGTTCAAAAAGCAGAGAAAAAGTGCAATTAAAGGTGCTAAAATATGTCTTCTTCCTTTAAAAATATTTTATTACTTATAGTAATGTAATAGGGGTAATACAAGTTGCAAAAAATCGTATTTTGGTGCCATAATTGTATATGCAATCAATAATAATACGTTACTAGTAGGAGACCTTGATTGATAATAAGATATTGCTGTCTGCTTTTCTGCAAATTCATTTATTAGTCATCAAAATTTATACTTTTAGCAACTTCATTTTAAATCAATATAATCAAAAGCAACATCAGTAACTATTTATAAATGCAAGCTCATGAATTAATTCCCATAATTTTTTTAGAAGGACCTTTCTGCTGATGTAACTGTTACTGGAGCTGTTAAAAAAGTTATATAGGCTATGACAACATTGGGTTAACTTTCTGAGAAACTATTTCAAAATATAAATTTTAGCAATCTAGAACTGATGACTCCAGATTCTAGAACCTAGAATAAAGGGACAATCTAGAATCTAGAATAAAGGGACAATTATTCTAAAAAGATTTAACTCTTCATACAAATCAGTTTCATGTAAATCTCTATTTAATTTTAAGTGTGAATTTATACAGTTTCATTTTAATGCTTTGTCCAATATGGCTTTAACCTGTGGAGGTGACACTACAAGCCGAACATGATTTCATGATTTGTATAAAATTCAGGATGCCTGTTTATGTATTCTATTACTGTATCTTCAATTATAAGTGGTAATTTTAAAACTGTCTTCCTTGTTAATAATAGGCTTATCCAAAGTTTCATATGAAAATGTTCTTTTCCATCAAATGCTACAATCTTTAAATGTAACTTCTAATTCTAAGCCTCAAAACCAGAGATTCAAACCTCCTTGAAGAATTCTAATAACTGCCTTATGTGCTTTATTGCAGTGTCTACATGTACACTTTTATTTTATAATATTTTAGTGACAAAATTTACTGTCCTATTGCCAGCAGTTCCTGTCCCCATGCTCAGGCCAGGAGTTAATATTTGTGCAGATCCCACAGAGCTGAGTTCTGGGGAAGGCCAGGCAATCTGTCCCCACACTGTGTGTCCCTATGCTGCCTCCATGCCGAGCCCCTTCTCTCCTCTGCAGCCATGGGACCCATCACCACTGCTACTGCTGCTGGTGCCACCACCATTGCTAATTCCAGTCTGGCCTTAGGTCCTGGTCTCTTTCATCACCTTGGAATGCCATGGTGCCACAGACTGCCCCAAGTGCTCATGTGCACAACTGAAGACCACACCTGCAGCTTGGTGCTCACACTGCCTACTACCCACTGCCCACTGTGCCCAGGAGCCTGCACCTACATTTGTCTGCACTGCCATTCCCGTATTTCCTCCGATCATGTGCATGTGCCATAGTCCCACTGGACTCCATGTATAAAACACAAGATCAAAGATAAAGTGATTATGAACTTCAAGGGGTGACAGCAGAGCATTAAATGAAGCCCAGATCTCTTGGTCCTGTAAAATGGCACCATTCACAGGCCCAAAAAGTCAGCTCTGGAGAGGAGCTATATTTCAGTCTGATCTCTTTCTATCTCAAGTCTTTTTTTTTTTTTTTTTTTTTATTTGAGGCGGCGTCTCAGTCTGTCATCCAGGCTAGAGTGCAGCGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGCGATTATAGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTCTTTTTTTGTTTTGTTTTGTTTTTTTAGTAGATATGGGGTTTTACCAGGTTGGCCAGGCT | TTTACTTGCCCTGCTTTCCCTACCCAAGGAAACTCCAATAAAGGGCTTGGTCTAGGCACTCCTTTGCTCCTCCTGCCCCTTCTGACTCATGACTGACACTGGCACTTTCCCACGTGTCCCAGCTGTTCCTGTTCTAGGACCTGTGAGTATTATAAACATTGTTTTCTTGTGCCTCTACTAGATCTCTTCTTATGACTGCACCTGACTAATCATGCCATAAAAAAACACAGAACACTACCCTGGTAGCCTAAAAGTGCTAATGGTCTTCCCAAGTGCTAGGATCCCGTGGAGGAATAATATTCCACATGTGCATATCCAATCCATTTAAGACACCACTGAAAAGGCCGGGCGTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACCGAGACCGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGCAAGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCAAGCCACTGCACTGCACTCCAGCCTGGGTGACTGAGACTCCCACTCAAAAAAACAAAAAAAAACAAAAAACCACACACCACTGAAAAAAAGAAAGACTCCTAAAGTCAACAATTTTGGTTTGTCTCAAGAATTAAGCTGAAACCCCTTGCTTCCTAGTTCATCAAAACAGAGGCTATAAAGTTCAGTTATGGGCCAAGGGACCTGAAATGAAATAATAAATTTACTCTCTGAAATACACATTAAAGACTTACACCCAAAATAACAGATCCCTCTTTTGCAGCAGCTTCCTTAAACTGAGATGGCTGGTATCATTAGGATTTAGCATCTCCACCGGAACAGTCATAGGGAACTGTACTAGCAGCTCCCTGAAGACGAAGAAAGTCCTGATATTAATGATGGAAACATGGTCTGGAAAATGGTGACTTTTGAGTTGGTGCCCTCAGGGCTCACCTTTTACACTAGGTCTACTTTTTTTTTTGTTTTTCTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATAATCTCAGCCAACTTGAACTTCTGCCTGCCAGGCCCAAGCCATCCTCCCACTCCAGCCTCCCAAGTAGCTGAGACTACAAGCGCGCACCACCATGCCCGGCTAATTTTTTGTATTTTTTGTAGAGATGAGATTTTACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCACACATCTCAGCTTCCTAAAGTGCTGGGATTACAGGCATGAGCCACCGGGCCTAGGTCTATTTTATTGGAAACGAACATATTCTTATTCAATGTAATCTGCAAGAATTTCCTTTTTCTTTTCTTTCTTTTTTTTTTGGTTTTGTTTTGTTTTGTTTCATTTTGTTTTGTTTTTTGAGACGGGGTCTTGTTCTATCACCCAGGCTGGAGTGCAGTGGTGCAATCACAGCTCACTGCAGCCTTGACTTCTCGGGCTTGAGTGATCCTCCCTCTTCAGCCTCCCAAGTAGCTGGGACCACAGGTGCATGCCGCCATGCCCAGCTAATCAAAAAAATTTTTTTTTGTAGAAATGGGTTCTTGCCTATGTTACTGGGCTGGTCTTGAATCCCTGGGTTCAAGAGATCCTCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGACATTGCACCCTGCCAGAATTTTGAAATGACTCTTCCATCATTATGAAACATGTTTGAACTGTTTTGTAATCAAAAACTGCTTTGGCTTCAGTGTACTAAATATTGTTAGGTGTTTTGTTTTTTGCTAGGACTTACCTCGAACAAAGACATAAGCACTATATTGTTCATAATATTCTCCCATCCGTACACGGATTGTATAGAGGCCTTCATCTTCTTTGTTGAGATGGGAAAATGTCAGCGTTGCCCGCTCTCCACTCCAAAGTGTTTGCACCCATTTTGATGGAGAAAGAGGTACTCCTAGAAATATTTTAAAGTAAGCAAATTAACTTATTTTTGTTTTATAACTTCCTTCTTGTCTCCCCTCCATTCCTCTCCTTAGCCTTTTCTATAATGAAAGTAATTTAACTACTAGAGGAAGTCTCTAGGACTTTGAGCCATCCTGATATGTTTACATTGGTAAAAATACTGGACCAAAAGTAAGGGGATAAGGGGCAGACACATAATCCGCAGGGGCCTCGTGTAAAATTACATTACAAGGCCCCTTGTTCAAAAAGCAGAGAAAAAGTGCAATTAAAGGTGCTAAAATATGTCTTCTTCCTTTAAAAATATTTTATTACTTATAGTAATGTAATAGGGGTAATACAAGTTGCAAAAAATCGTATTTTGGTGCCATAATTGTATATGCAATCAATAATAATACGTTACTAGTAGGAGACCTTGATTGATAATAAGATATTGCTGTCTGCTTTTCTGCAAATTCATTTATTAGTCATCAAAATTTATACTTTTAGCAACTTCATTTTAAATCAATATAATCAAAAGCAACATCAGTAACTATTTATAAATGCAAGCTCATGAATTAATTCCCATAATTTTTTTAGAAGGACCTTTCTGCTGATGTAACTGTTACTGGAGCTGTTAAAAAAGTTATATAGGCTATGACAACATTGGGTTAACTTTCTGAGAAACTATTTCAAAATATAAATTTTAGCAATCTAGAACTGATGACTCCAGATTCTAGAACCTAGAATAAAGGGACAATCTAGAATCTAGAATAAAGGGACAATTATTCTAAAAAGATTTAACTCTTCATACAAATCAGTTTCATGTAAATCTCTATTTAATTTTAAGTGTGAATTTATACAGTTTCATTTTAATGCTTTGTCCAATATGGCTTTAACCTGTGGAGGTGACACTACAAGCCGAACATGATTTCATGATTTGTATAAAATTCAGGATGCCTGTTTATGTATTCTATTACTGTATCTTCAATTATAAGTGGTAATTTTAAAACTGTCTTCCTTGTTAATAATAGGCTTATCCAAAGTTTCATATGAAAATGTTCTTTTCCATCAAATGCTACAATCTTTAAATGTAACTTCTAATTCTAAGCCTCAAAACCAGAGATTCAAACCTCCTTGAAGAATTCTAATAACTGCCTTATGTGCTTTATTGCAGTGTCTACATGTACACTTTTATTTTATAATATTTTAGTGACAAAATTTACTGTCCTATTGCCAGCAGTTCCTGTCCCCATGCTCAGGCCAGGAGTTAATATTTGTGCAGATCCCACAGAGCTGAGTTCTGGGGAAGGCCAGGCAATCTGTCCCCACACTGTGTGTCCCTATGCTGCCTCCATGCCGAGCCCCTTCTCTCCTCTGCAGCCATGGGACCCATCACCACTGCTACTGCTGCTGGTGCCACCACCATTGCTAATTCCAGTCTGGCCTTAGGTCCTGGTCTCTTTCATCACCTTGGAATGCCATGGTGCCACAGACTGCCCCAAGTGCTCATGTGCACAACTGAAGACCACACCTGCAGCTTGGTGCTCACACTGCCTACTACCCACTGCCCACTGTGCCCAGGAGCCTGCACCTACATTTGTCTGCACTGCCATTCCCGTATTTCCTCCGATCATGTGCATGTGCCATAGTCCCACTGGACTCCATGTATAAAACACAAGATCAAAGATAAAGTGATTATGAACTTCAAGGGGTGACAGCAGAGCATTAAATGAAGCCCAGATCTCTTGGTCCTGTAAAATGGCACCATTCACAGGCCCAAAAAGTCAGCTCTGGAGAGGAGCTATATTTCAGTCTGATCTCTTTCTATCTCAAGTCTTTTTTTTTTTTTTTTTTTTTATTTGAGGCGGCGTCTCAGTCTGTCATCCAGGCTAGAGTGCAGCGGTGTGATCTCAGCTCATTGCAACCTCCGCCTCCCGGGTTCAAGCGATTATAGTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCACGCCTGGCTAATTCTTTTTTTGTTTTGTTTTGTTTTTTTAGTAGATATGGGGTTTTACCAGGTTGGCCAGGCTN | benign | 287,178 |
Clinical impact (benign or pathogenic) of the variant at chromosome 18, location 3452224, gene TGIF1 (TGFB induced factor homeobox 1): what disease(s) if pathogenic? | benign | TGACAGCGCCGAGGTGCGCCGAGCAGGAGCAGGGAACAAAGGAGCGGAGAGGGGAGGGGAGAGAGTTGGGCGAGGGAGAGCCCCCGGCCGGCTGCCAGAAGATCCCGGCGGGAGGAAGCCCAAGTGTCACTTGAATTCCACCCAAGGAGCGGGCGCCTGGGATCAGAGCGTCCTGTTTAGCAATAACGGCTGGAGCACGTCCTACAAGTTACGGGAGAGTCGGCTGTGAAGGAGACGTTCGCTTATCCCCTGTGTCCCCGCTCCTGGCCCCTCCAGACCCCCGCCTTGCCTCGCGCTGGGAGGGGAGATCCAGAATGAAAGGCAAGAAAGGTAAGGCGGCCGCGGGCTGCGCGCACCAGAAGACGCGAGTCCGGGGAAACGTGCTGGCCGGGCCGCGCCGCGCGGAGTCACTTGGTGGACTTTTCCGCCCAGGGGCTCTCATGCTGGAGTGGCGGCCGTGCTCTTTGTTGAGGCTGCGTCTGAAACGGCAGCGGCTGTTTTCCTGCTAGACACAACACGAGGGGCTGTTGTGGGGCGAGCCTCTCCACGCTGCTGGCACGTTGTCAAGAAACACGCTCAGCGCCTTGTTTGTGCGCCTGCAAGTTTCATTGTCTCCGCCGACACCCCACGCTCGGCCCAGCCGCCGCGTGGCTTCTCGCTCTTTCTCGCGTGCTGGGGATATGGGGTCCGAGTAGGGAGGACCCAGCCCCTCGTTTTTCCCGATCCGGACCCAGGCGGCCGGGGCCGCGGGACCGCCGCGGCTTTGTCTGAAAGTTCCACTCCTAGGCTCCCCCCGCCCCCGCCCCCGCCGCCCCCCTACTCCCAGCCGGGCCCTAGCACTGTTCTTTAGGGATGTGGTGTTTTTACGATCGAAGGAATGCGATTCTGGACCCCCTCATCGCCCTCGGGTGTAAACAGCTTTGGAAAGCTAGACTTTTACAAATCCCCAGTCTCTAAAAGTTTTCCCACGATGAATTTTGGGGCAGGAGGAAGAGTTAGCACCCAGGGCCAGCAGCTTCAAGCGGCATGCAGTCAAAATGCGTCCAAATGTGACAAGCAGGCTTGGTTGTAAGTGCAAAGAGCAAGGCTGTCATTGTTTCCACGAAGTGTTCTGGAAGCTTTACAACTAAAACTTGCCGTCAGTTTGGTTTAAAAACAAAATACACCGGAGGGGGACGGGGGGTGGAGAAACCACACAAAACACCCCGAAAGGTCAGAGTGTGAAGTCCCTTTTGAAGTTAACAAAAATTGAGTCCCTGGCTGGGAGGTCCCCCGAGTGTTCCGCTGTGGGCTGGAGGTGGCGTTTCTGTCGTGATTTATGTGGAGTGGTTCAAAACAGAAGTTAATCACTCGGGAAGCGGACGGGAGGGGCGGCGCTACTGCGCATGCCCGGGAGCCGCCTGGAGTTTGGAACTCCACATTCTTTCAGACCCGGCCCGCTGCGGGGCGTTCCTGGGGGGTAGCCTCAAGGCCAGCGGGGTTCCTTCGGCTGCGTTTCTGTGGGAGGCCCTGAAACGCGCGGAGCTTCCCTCTGCCTCCAGGCTTTCCCAGCGAGAGTGAAATTAAACTTGAAACTCGGATCAACTGGCAGTCGTTGTTGGTAGAACGCCCTAAGGACCCCTCCCCGCGGGACGGAGGGAGGACTCGGGACAGGGAATTGGCCCTGGGAGAAAACGCGCGGGGGGCGTCCGAGACGCCCCGTGAAAGCCGTGCCGACCCTTGGGAGGACTGACAGGTCTAGAGACACGCGCTGTCTGTTGTGGTGGGCCTCCCGGGAATAAGTGAGGGGCTCTGTGTTTCGAGGATGGTTCTAGCGCAGAGCCGGGTGTCTGCCGGGGTGGGCTCCCCGCATTGTTCGGGCTCCGGCGGGGGCGGCTCTGATTCCTTTCCATGGCCCGCCTCCCACCCCGGGAATCCCCAGTGCTCCTTTTCCACGGCTTTTCTGGCGTCCCCCCGACTCTCCCGCGGCACTTTGGCCTACCTTCCCCCAGCGCCGTGGTCCTCCCTGGCGACCCCCTCTGCGCTCCTGGGGTCCTCCTGCGCCCCCCCTCCTCCACCGGCGCGCTGCCCACAGCCGCGTGCCCTCTCCCCGGAGCTGGGGACCAAGGCTGGGCCCCGCCGGCCGCATCGGTGGGAACTTCCGCGGTCCCCATCCCAGGGCGCACAGGGTCCAGCTCCTCGGCGCCGACTCCTGGAAACAATGAAAGGTGACGGGCTGAAGGGGAAACTTTGCGACTGGTTCAGGGCTCTTTGGGGGAGCCGAGGCTGCCGAGGTTACCCGGGTTTCTTTCCCCTTTTAGGTTTCCCTGGCGAGTCGTCTGGGGTGGGCAGGCCTCTGAGAAGGTGGGATTCACGGCCTCATTTCTAGTTTCTTGGGTCCTGGAGTTCCTTTGCTTGTGCTAACTCGTGCAGTGTGCGGGCCGGCCTGTTTCACTTGAGGCCGAGGAACTCTCAAGAACAAAAGCTACTTGCTTTTCCTCCTTGGGCCCCTCCCTCTCCCCGTGCTCCTCCGCCGTCCTCCTCTAAAACTACCTGGGAGGGGGGAGCCTTCCCCGTCGGCTCTGGAAAGACTCCTGAGGAAGTCGGGCCCTCCTTACTGTCTTGTCTTATAAAAGTCTGCAAATCTTTTCAAGTTTTCTTAAAACAAGTGCACTTTCAGCTCCATTCCTGAGCCCGGGGTAAGCTTGGTTTGTGATAATAGTGTGTCCTCCCAGAAAGCTGAGAGTGACGCCAAAAGATCTCCTAAAATGACTTAAAAACAATGAGAAGGATCGATAAGGAAAATCCACTAAGTCTTTTTGCTCCCAGTTTTTAACTGTTGAATTCCTGCTTTGGGATTGCTCTTTGGCTGGGGTAGCCAACCATACCTTGGATTTGGTGGCTTGAGTGTTCAATGCCTGTTGCTTCTCCCAAGGAGATACTGATTTTTTTTTTCTTTTGTTCCTGGAGACCGGGTCTGGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGAAATCCTCTCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCAAGAGACATTGCTCCCAGCTCAAAGGAGAACTTCTGGTCAGGAAACTTGTTGAGTTAAATTTGCTTTTTCCTAATTGTGCATCTCGACTTTTCCCATCAATCTTATTTCTAGAGTCTCTTCACAACCGGTGTCTCCCTGCCTCCCTGTCTCATGATGTTACCGAGCTATTCAGAAAAGAAAGTGCAGGGCTGGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGAGCAGATCATCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTCCTAAAAACACAAAATTAGCCGGGCGTGGTGGCTTTTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCTGGAGGCGGAGGCTGCGGTGAGCCGAGGTTGCGGCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAACGTGCAGGAACAAGGTCGCTGCTTAGGGCGGTGGGATCCTCAGGCCATGTTGTGGCTTTCTCCACAACATTTCCTTGTATGTGGATAGCGTGAAAGAAGCTTGTGATCCTGCCCCCACCCTCCCCACCGCCACATTTTTTAAAGTGTAAGCAAAGCAAGACGTTTGGAAACAAGTCTTAACCGGGAAACTTTTCAAAAGCGCTGTTACAATAGGAAATGAGTAAGGAGGAAAAAAGTCTTTGTTTTTCCAAGCTGAGCCACAACTAGGAGGGAGAGTTTTAATGAAAACAGTCCTGACAGCAGCAAACGTGGTTTTACTGCAGTGAAATATCAGCTGGCGTAGCCAAGGCACTGAAGTCTTAACTTCCTGTTACTTCAGCTTTTGTGCACATATTGGAAATATTTGTTAAGAGTTCCAGAGGTCTGGCATTCATTTATTTAAATGAACTGAGAACAGAGTAAAGTCGCGCTGCAGTTTGGTGTTGCTTAACTGAAACCTGCTTTTGTGTGTCACTAACCTATTCTGAAAGATCAGGCTTCTTGTCAAACTAGGCAAGCAG | TGACAGCGCCGAGGTGCGCCGAGCAGGAGCAGGGAACAAAGGAGCGGAGAGGGGAGGGGAGAGAGTTGGGCGAGGGAGAGCCCCCGGCCGGCTGCCAGAAGATCCCGGCGGGAGGAAGCCCAAGTGTCACTTGAATTCCACCCAAGGAGCGGGCGCCTGGGATCAGAGCGTCCTGTTTAGCAATAACGGCTGGAGCACGTCCTACAAGTTACGGGAGAGTCGGCTGTGAAGGAGACGTTCGCTTATCCCCTGTGTCCCCGCTCCTGGCCCCTCCAGACCCCCGCCTTGCCTCGCGCTGGGAGGGGAGATCCAGAATGAAAGGCAAGAAAGGTAAGGCGGCCGCGGGCTGCGCGCACCAGAAGACGCGAGTCCGGGGAAACGTGCTGGCCGGGCCGCGCCGCGCGGAGTCACTTGGTGGACTTTTCCGCCCAGGGGCTCTCATGCTGGAGTGGCGGCCGTGCTCTTTGTTGAGGCTGCGTCTGAAACGGCAGCGGCTGTTTTCCTGCTAGACACAACACGAGGGGCTGTTGTGGGGCGAGCCTCTCCACGCTGCTGGCACGTTGTCAAGAAACACGCTCAGCGCCTTGTTTGTGCGCCTGCAAGTTTCATTGTCTCCGCCGACACCCCACGCTCGGCCCAGCCGCCGCGTGGCTTCTCGCTCTTTCTCGCGTGCTGGGGATATGGGGTCCGAGTAGGGAGGACCCAGCCCCTCGTTTTTCCCGATCCGGACCCAGGCGGCCGGGGCCGCGGGACCGCCGCGGCTTTGTCTGAAAGTTCCACTCCTAGGCTCCCCCCGCCCCCGCCCCCGCCGCCCCCCTACTCCCAGCCGGGCCCTAGCACTGTTCTTTAGGGATGTGGTGTTTTTACGATCGAAGGAATGCGATTCTGGACCCCCTCATCGCCCTCGGGTGTAAACAGCTTTGGAAAGCTAGACTTTTACAAATCCCCAGTCTCTAAAAGTTTTCCCACGATGAATTTTGGGGCAGGAGGAAGAGTTAGCACCCAGGGCCAGCAGCTTCAAGCGGCATGCAGTCAAAATGCGTCCAAATGTGACAAGCAGGCTTGGTTGTAAGTGCAAAGAGCAAGGCTGTCATTGTTTCCACGAAGTGTTCTGGAAGCTTTACAACTAAAACTTGCCGTCAGTTTGGTTTAAAAACAAAATACACCGGAGGGGGACGGGGGGTGGAGAAACCACACAAAACACCCCGAAAGGTCAGAGTGTGAAGTCCCTTTTGAAGTTAACAAAAATTGAGTCCCTGGCTGGGAGGTCCCCCGAGTGTTCCGCTGTGGGCTGGAGGTGGCGTTTCTGTCGTGATTTATGTGGAGTGGTTCAAAACAGAAGTTAATCACTCGGGAAGCGGACGGGAGGGGCGGCGCTACTGCGCATGCCCGGGAGCCGCCTGGAGTTTGGAACTCCACATTCTTTCAGACCCGGCCCGCTGCGGGGCGTTCCTGGGGGGTAGCCTCAAGGCCAGCGGGGTTCCTTCGGCTGCGTTTCTGTGGGAGGCCCTGAAACGCGCGGAGCTTCCCTCTGCCTCCAGGCTTTCCCAGCGAGAGTGAAATTAAACTTGAAACTCGGATCAACTGGCAGTCGTTGTTGGTAGAACGCCCTAAGGACCCCTCCCCGCGGGACGGAGGGAGGACTCGGGACAGGGAATTGGCCCTGGGAGAAAACGCGCGGGGGGCGTCCGAGACGCCCCGTGAAAGCCGTGCCGACCCTTGGGAGGACTGACAGGTCTAGAGACACGCGCTGTCTGTTGTGGTGGGCCTCCCGGGAATAAGTGAGGGGCTCTGTGTTTCGAGGATGGTTCTAGCGCAGAGCCGGGTGTCTGCCGGGGTGGGCTCCCCGCATTGTTCGGGCTCCGGCGGGGGCGGCTCTGATTCCTTTCCATGGCCCGCCTCCCACCCCGGGAATCCCCAGTGCTCCTTTTCCACGGCTTTTCTGGCGTCCCCCCGACTCTCCCGCGGCACTTTGGCCTACCTTCCCCCAGCGCCGTGGTCCTCCCTGGCGACCCCCTCTGCGCTCCTGGGGTCCTCCTGCGCCCCCCCCCTCCACCGGCGCGCTGCCCACAGCCGCGTGCCCTCTCCCCGGAGCTGGGGACCAAGGCTGGGCCCCGCCGGCCGCATCGGTGGGAACTTCCGCGGTCCCCATCCCAGGGCGCACAGGGTCCAGCTCCTCGGCGCCGACTCCTGGAAACAATGAAAGGTGACGGGCTGAAGGGGAAACTTTGCGACTGGTTCAGGGCTCTTTGGGGGAGCCGAGGCTGCCGAGGTTACCCGGGTTTCTTTCCCCTTTTAGGTTTCCCTGGCGAGTCGTCTGGGGTGGGCAGGCCTCTGAGAAGGTGGGATTCACGGCCTCATTTCTAGTTTCTTGGGTCCTGGAGTTCCTTTGCTTGTGCTAACTCGTGCAGTGTGCGGGCCGGCCTGTTTCACTTGAGGCCGAGGAACTCTCAAGAACAAAAGCTACTTGCTTTTCCTCCTTGGGCCCCTCCCTCTCCCCGTGCTCCTCCGCCGTCCTCCTCTAAAACTACCTGGGAGGGGGGAGCCTTCCCCGTCGGCTCTGGAAAGACTCCTGAGGAAGTCGGGCCCTCCTTACTGTCTTGTCTTATAAAAGTCTGCAAATCTTTTCAAGTTTTCTTAAAACAAGTGCACTTTCAGCTCCATTCCTGAGCCCGGGGTAAGCTTGGTTTGTGATAATAGTGTGTCCTCCCAGAAAGCTGAGAGTGACGCCAAAAGATCTCCTAAAATGACTTAAAAACAATGAGAAGGATCGATAAGGAAAATCCACTAAGTCTTTTTGCTCCCAGTTTTTAACTGTTGAATTCCTGCTTTGGGATTGCTCTTTGGCTGGGGTAGCCAACCATACCTTGGATTTGGTGGCTTGAGTGTTCAATGCCTGTTGCTTCTCCCAAGGAGATACTGATTTTTTTTTTCTTTTGTTCCTGGAGACCGGGTCTGGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGAAATCCTCTCGCCTTGGCCTCCCAAAGTTCTGGGATTACAGGCAAGAGACATTGCTCCCAGCTCAAAGGAGAACTTCTGGTCAGGAAACTTGTTGAGTTAAATTTGCTTTTTCCTAATTGTGCATCTCGACTTTTCCCATCAATCTTATTTCTAGAGTCTCTTCACAACCGGTGTCTCCCTGCCTCCCTGTCTCATGATGTTACCGAGCTATTCAGAAAAGAAAGTGCAGGGCTGGGCGCGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGAGCAGATCATCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTCCTAAAAACACAAAATTAGCCGGGCGTGGTGGCTTTTGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCTGGAGGCGGAGGCTGCGGTGAGCCGAGGTTGCGGCATTGCACTCCAGCCTGGGTGACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAACGTGCAGGAACAAGGTCGCTGCTTAGGGCGGTGGGATCCTCAGGCCATGTTGTGGCTTTCTCCACAACATTTCCTTGTATGTGGATAGCGTGAAAGAAGCTTGTGATCCTGCCCCCACCCTCCCCACCGCCACATTTTTTAAAGTGTAAGCAAAGCAAGACGTTTGGAAACAAGTCTTAACCGGGAAACTTTTCAAAAGCGCTGTTACAATAGGAAATGAGTAAGGAGGAAAAAAGTCTTTGTTTTTCCAAGCTGAGCCACAACTAGGAGGGAGAGTTTTAATGAAAACAGTCCTGACAGCAGCAAACGTGGTTTTACTGCAGTGAAATATCAGCTGGCGTAGCCAAGGCACTGAAGTCTTAACTTCCTGTTACTTCAGCTTTTGTGCACATATTGGAAATATTTGTTAAGAGTTCCAGAGGTCTGGCATTCATTTATTTAAATGAACTGAGAACAGAGTAAAGTCGCGCTGCAGTTTGGTGTTGCTTAACTGAAACCTGCTTTTGTGTGTCACTAACCTATTCTGAAAGATCAGGCTTCTTGTCAAACTAGGCAAGCAGN | benign | 287,273 |
Variant at chromosome position 3458204, chromosome 18, gene TGIF1 (TGFB induced factor homeobox 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TGGTTGAGAGCCTCCTATGTGGTGCTAGTCAAACTACTTTTACTTGGACCCTGAATTCAGGACAGAAAACACTGCTCCTTCTCCTCGCTCTCAGTTGTTGGGAAAGCATGGTTACATTGAATGGTCAGCGTTAAGTGAGCTTTGCAATAGTTGCTGTGCTTATAAAGCAACTGACAACTGGCCCTTGTCCTTTCCTAGGTATTGTTGCAGCATCTGGCAGTGAGACTGAGGATGAGGACAGCATGGACATTCCCTTGGACCTTTCTTCATCCGCTGGCTCAGGCAAGAGAAGGAGAAGGGGCAACCTACCCAAGGAGTCTGTGCAGATTCTTCGGGATTGGCTGTATGAGCACCGTTACAATGCCTATCCTTCAGAGCAAGAAAAAGCGTTGCTGTCCCAGCAAACACACCTGTCTACGCTACAGGTAAAGAAAGAGAGCGTGAGGTTTATGGATGCATTTTTAGTTTCAAAGTCATTTTATGGCATTCCTGTGTGTCAAGTCATTAAGCTCCTTGCCACTCAAAGACAGAAGGAATATCTTTTTATTGTAAACTTGATAGTGTTAAAAGCTAATAACTAGCTATTTAGAGAACACAGAAACACTTGACAGTCATCTATCAGATAGCATTTCCTTTAATGCCTAAAAGAACCTTCCTTTATGCAACAGACATTAAAAGGAGGTTAAACCTTACTCTATTGTCCAGGAAACTGGTTTGATATTTAAACAAGGACGACTTCAGTGAGGTAATTCATGTTATGTCTGTTGACACAGTCATTTGAACTGGGAAAAATCAGTTACTGGGAGGAGTGGCCCTTTTCATAAGGAGAGGTTTTCCTGTAGTTGATTAACTTAAATGTTGGGGCAGTAGGTGATAGGTTAAAATGGGGAGAGTTAAAAAGTAAACCTCTCTCTCAAATCATTTTTAAGCATTTGAGATTGTATGTCTTTTTCTTCGTCCTGAAAAGGTTTAAGTATGAAGAGACAAAAAAGGAAATTTGTATTAGAAACTAGAAGGCTTATGACAGGTGGTAGCTTGCTTTCTTGGCGGAGCTCAGATACCTTGAAATAACATTGTAAATTCAGATAAGGCTTTTCATGCTTTCTTTAATTCAGAGAGCAAGATCAATTAGGTACCCCATAGAACATTCTCAGAACCCGTTGGCTGAGTGAATGAGGAAAATGTTAAAGCGTACCGATATGATTTCAGGTCTGTAACTGGTTCATCAACGCCCGCCGCAGGCTCCTCCCTGACATGCTGAGAAAGGATGGCAAAGATCCAAATCAGTTCACAATTTCCCGCCGTGGGGCCAAGATTTCTGAAACGAGCTCTGTGGAGTCCGTGATGGGCATCAAAAACTTCATGCCAGCTCTAGAGGAGACCCCATTTCATTCCTGTACAGCTGGGCCAAACCCAACCCTAGGGAGGCCACTGTCTCCTAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCCATACCACTGTGACTGCATTGAAAGATGTCCCTTTCTCTCTCTGCCAGTCGGTCGGTGTGGGACAAAACACAGATATACAGCAGATAGCGGCCAAAAACTTCACAGACACCTCTCTCATGTACCCAGAGGACACTTGTAAATCTGGACCAAGTACGAATACACAGAGTGGTCTTTTCAACACTCCTCCCCCTACTCCACCGGACCTCAACCAGGACTTCAGTGGATTTCAGCTTCTAGTGGATGTTGCACTCAAACGGGCTGCAGAGATGGAGCTTCAGGCAAAACTTACAGCTTAACCCATTTTCAAGCAAAACAGTTCTCAGAAATGTCATGATTGCCGGGGTGAAGGCAAGAGATGAATTGCATTATTTTATATATTTTTTATTAATATTTGCACATGGGATTGCTAAAACAGCTTCCTGTTACTGAGATGTCTTCAATGGAATACAGTCATTCCAAGAACTATAAACTTAAAGCTACTGTAGAAACAAAGGGTTTTCTTTTTTAAATGTTTCTTGGTAGATTATTCATAATGTGAGATGGTTCCCAATATCATGTGATTTTTTTTTTCCTCCCCTTCCCTTTTTTTGTTATTTTTTCAGACTGTGCAATACTTAGAGAACCTATAGCATCTTCTCATTCCCATGTGGAACAGGATGCCCACATACTGTCTAATTAATAAATTTTCCATTTTTTTTCAAACAAGTATGAATCTAGTTGGTTGATGCCTTTTTTTTCATGACATAATAAAGTATTTTCTTTAAAAATTGTTGTAATTCAGAGTATTTCTGTTGAGGGAGGTGCTTCTTAAAAATAAGTAGGAATATAGCACCCCAGTGAGCAGGAAGCTGGGGGGGTAGGGTGCAGTGTTAGGGGGTGTCACCAGCTCTTTGAAAACCTGTGGACAACAAGCCAGTTTGCATAAACAGGATGTGTGATATTTACTCTTGATAGGAGGCATAGCAGGCCCTTAGAGCTTTACTTAAACTGCATGGCAAATTGAAATGAATCATTTTAGTGTTTAGCTAGCCACTAAATCCCTTGCTGATCTGTCCTGCGTAGTTTAAAACGTGGCCATGTTATAAAGAAAAGTCTTGAAGCATCCGGTTATTGCTGAGTTTTCAGAAGAAAACAACGCAAGCAATCTCTTGCCCTTTTTCCACGTTACCCTTTAAAATAACCTTTGTTCAGTGGTACATTTAGTTAAGGCATTTGTATTCAAATGTAGCATAGTATTTGCAGAGAAATTACCTTTTAAAACATCTCAAAAGTGTTTTCTAAAATGATGAAATAAACGGTGGGGTTCTGTCTATGGTGGGATTGTCAGTTTATTAGGTGAGTATTTTCCAAGGTCTCAGTTTGTGAAAAAATGGTGCTATGTACAAGTGGAGTTTGTTGGGATAGACAATCACTTACAAAGCCCAGATGGCCAGAAGGGAATTGGTGTTGCTCCTTTCACTTGTATGGTTGAGCAGATTTGTCACATGCCACAAAACCATTCTTTGTAGTCATGCTTAGTATGAGCTTGCTTTGTTGTTACGGTCATGTTCTTTCCAGCCCTGCCCCAGCTATGAATTGTCTAAGTGTGAGGGAGCATCAGAGCTTCAGTATTGTTTAAAGAATGTAGAAAAATACAAATTTGTCTAATTTTGAAACTATTTTAGAAAGTCCCTACTGTAGAAAGAGCTAAACTCAAAGACTTTCCTTGTAAGTGAAAGAAAAAAACTGCTGATGATTACCAAGAGGCGTAAGAAAATTAGGTGAGGGAATGTTGTGCTCTAGCCTGTGGGGTGCAGCTTCGTAGGGCACATCAGCTTAGAATGGTCTGGCCTCACCTCAGAGAGTCACAGAAATAGACAAAAACCCAAAAAGTACTAGTAAAGTAAATACAAGGAACAAAATAAACATTAATAAAAATGAATGACGCAAAGGTGATCCAGAATCATTACTTGCTCCAACAGCTAGATCAAAGGCTGAACATTTTGCTTTAGTATAGATGAGGGAAATGAGCAAGTCCTAAAAGGTTTGCCCTGTTACGGTGTTTCATCACTCATACTGGAAGGAGAAGGAAAGGAGCCATATGACTCATTTAAAAGAAAAACTGTAAGTCACCTTAAATTCCCTATGTTTTACTTCATTTTTTCCCTATTGAGGTTGTTACAGGTCATGGTTGATAATAGTTGGTGTTGAATGAATGTAATCCATTATTTAAAAACAGGTACATTTAAGTGAAAAGATAAATGTAAAAAGCTGTTCATATCAAAGCCAAATAGAAATGATTTTTATGCTTATAATTTACATGGTGCAATATATCTTTTTAATTTGTTTACTTTTCACCTATTTGTGTTTTTGAAGTTCATCCCATAGCATATAGTTTGGGTCTTGCTTTTTTATTTAGTCTAATGATCTCTGCCTTTTACTTAGCATTTGTCAATTTACATTTACTGTAATTATTGATATGTTTAGATTGAGTTTACCATTTGGCTTTTTTCTTTGCTCCTCTTTTCCTGCCTTCTTTCAGGTTGAATATTTTTATTATATATCATTATATCATTATTATTATATATTATATATCATATATTAAGATATATGAGAATATCAGCATTC | TGGTTGAGAGCCTCCTATGTGGTGCTAGTCAAACTACTTTTACTTGGACCCTGAATTCAGGACAGAAAACACTGCTCCTTCTCCTCGCTCTCAGTTGTTGGGAAAGCATGGTTACATTGAATGGTCAGCGTTAAGTGAGCTTTGCAATAGTTGCTGTGCTTATAAAGCAACTGACAACTGGCCCTTGTCCTTTCCTAGGTATTGTTGCAGCATCTGGCAGTGAGACTGAGGATGAGGACAGCATGGACATTCCCTTGGACCTTTCTTCATCCGCTGGCTCAGGCAAGAGAAGGAGAAGGGGCAACCTACCCAAGGAGTCTGTGCAGATTCTTCGGGATTGGCTGTATGAGCACCGTTACAATGCCTATCCTTCAGAGCAAGAAAAAGCGTTGCTGTCCCAGCAAACACACCTGTCTACGCTACAGGTAAAGAAAGAGAGCGTGAGGTTTATGGATGCATTTTTAGTTTCAAAGTCATTTTATGGCATTCCTGTGTGTCAAGTCATTAAGCTCCTTGCCACTCAAAGACAGAAGGAATATCTTTTTATTGTAAACTTGATAGTGTTAAAAGCTAATAACTAGCTATTTAGAGAACACAGAAACACTTGACAGTCATCTATCAGATAGCATTTCCTTTAATGCCTAAAAGAACCTTCCTTTATGCAACAGACATTAAAAGGAGGTTAAACCTTACTCTATTGTCCAGGAAACTGGTTTGATATTTAAACAAGGACGACTTCAGTGAGGTAATTCATGTTATGTCTGTTGACACAGTCATTTGAACTGGGAAAAATCAGTTACTGGGAGGAGTGGCCCTTTTCATAAGGAGAGGTTTTCCTGTAGTTGATTAACTTAAATGTTGGGGCAGTAGGTGATAGGTTAAAATGGGGAGAGTTAAAAAGTAAACCTCTCTCTCAAATCATTTTTAAGCATTTGAGATTGTATGTCTTTTTCTTCGTCCTGAAAAGGTTTAAGTATGAAGAGACAAAAAAGGAAATTTGTATTAGAAACTAGAAGGCTTATGACAGGTGGTAGCTTGCTTTCTTGGCGGAGCTCAGATACCTTGAAATAACATTGTAAATTCAGATAAGGCTTTTCATGCTTTCTTTAATTCAGAGAGCAAGATCAATTAGGTACCCCATAGAACATTCTCAGAACCCGTTGGCTGAGTGAATGAGGAAAATGTTAAAGCGTACCGATATGATTTCAGGTCTGTAACTGGTTCATCAACGCCCGCCGCAGGCTCCTCCCTGACATGCTGAGAAAGGATGGCAAAGATCCAAATCAGTTCACAATTTCCCGCCGTGGGGCCAAGATTTCTGAAACGAGCTCTGTGGAGTCCGTGATGGGCATCAAAAACTTCATGCCAGCTCTAGAGGAGACCCCATTTCATTCCTGTACAGCTGGGCCAAACCCAACCCTAGGGAGGCCACTGTCTCCTAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCCATACCACTGTGACTGCATTGAAAGATGTCCCTTTCTCTCTCTGCCAGTCGGTCGGTGTGGGACAAAACACAGATATACAGCAGATAGCGGCCAAAAACTTCACAGACACCTCTCTCATGTACCCAGAGGACACTTGTAAATCTGGACCAAGTACGAATACACAGAGTGGTCTTTTCAACACTCCTCCCCCTACTCCACCGGACCTCAACCAGGACTTCAGTGGATTTCAGCTTCTAGTGGATGTTGCACTCAAACGGGCTGCAGAGATGGAGCTTCAGGCAAAACTTACAGCTTAACCCATTTTCAAGCAAAACAGTTCTCAGAAATGTCATGATTGCCGGGGTGAAGGCAAGAGATGAATTGCATTATTTTATATATTTTTTATTAATATTTGCACATGGGATTGCTAAAACAGCTTCCTGTTACTGAGATGTCTTCAATGGAATACAGTCATTCCAAGAACTATAAACTTAAAGCTACTGTAGAAACAAAGGGTTTTCTTTTTTAAATGTTTCTTGGTAGATTATTCATAATGTGAGATGGTTCCCAATATCATGTGATTTTTTTTTCCTCCCCTTCCCTTTTTTTGTTATTTTTTCAGACTGTGCAATACTTAGAGAACCTATAGCATCTTCTCATTCCCATGTGGAACAGGATGCCCACATACTGTCTAATTAATAAATTTTCCATTTTTTTTCAAACAAGTATGAATCTAGTTGGTTGATGCCTTTTTTTTCATGACATAATAAAGTATTTTCTTTAAAAATTGTTGTAATTCAGAGTATTTCTGTTGAGGGAGGTGCTTCTTAAAAATAAGTAGGAATATAGCACCCCAGTGAGCAGGAAGCTGGGGGGGTAGGGTGCAGTGTTAGGGGGTGTCACCAGCTCTTTGAAAACCTGTGGACAACAAGCCAGTTTGCATAAACAGGATGTGTGATATTTACTCTTGATAGGAGGCATAGCAGGCCCTTAGAGCTTTACTTAAACTGCATGGCAAATTGAAATGAATCATTTTAGTGTTTAGCTAGCCACTAAATCCCTTGCTGATCTGTCCTGCGTAGTTTAAAACGTGGCCATGTTATAAAGAAAAGTCTTGAAGCATCCGGTTATTGCTGAGTTTTCAGAAGAAAACAACGCAAGCAATCTCTTGCCCTTTTTCCACGTTACCCTTTAAAATAACCTTTGTTCAGTGGTACATTTAGTTAAGGCATTTGTATTCAAATGTAGCATAGTATTTGCAGAGAAATTACCTTTTAAAACATCTCAAAAGTGTTTTCTAAAATGATGAAATAAACGGTGGGGTTCTGTCTATGGTGGGATTGTCAGTTTATTAGGTGAGTATTTTCCAAGGTCTCAGTTTGTGAAAAAATGGTGCTATGTACAAGTGGAGTTTGTTGGGATAGACAATCACTTACAAAGCCCAGATGGCCAGAAGGGAATTGGTGTTGCTCCTTTCACTTGTATGGTTGAGCAGATTTGTCACATGCCACAAAACCATTCTTTGTAGTCATGCTTAGTATGAGCTTGCTTTGTTGTTACGGTCATGTTCTTTCCAGCCCTGCCCCAGCTATGAATTGTCTAAGTGTGAGGGAGCATCAGAGCTTCAGTATTGTTTAAAGAATGTAGAAAAATACAAATTTGTCTAATTTTGAAACTATTTTAGAAAGTCCCTACTGTAGAAAGAGCTAAACTCAAAGACTTTCCTTGTAAGTGAAAGAAAAAAACTGCTGATGATTACCAAGAGGCGTAAGAAAATTAGGTGAGGGAATGTTGTGCTCTAGCCTGTGGGGTGCAGCTTCGTAGGGCACATCAGCTTAGAATGGTCTGGCCTCACCTCAGAGAGTCACAGAAATAGACAAAAACCCAAAAAGTACTAGTAAAGTAAATACAAGGAACAAAATAAACATTAATAAAAATGAATGACGCAAAGGTGATCCAGAATCATTACTTGCTCCAACAGCTAGATCAAAGGCTGAACATTTTGCTTTAGTATAGATGAGGGAAATGAGCAAGTCCTAAAAGGTTTGCCCTGTTACGGTGTTTCATCACTCATACTGGAAGGAGAAGGAAAGGAGCCATATGACTCATTTAAAAGAAAAACTGTAAGTCACCTTAAATTCCCTATGTTTTACTTCATTTTTTCCCTATTGAGGTTGTTACAGGTCATGGTTGATAATAGTTGGTGTTGAATGAATGTAATCCATTATTTAAAAACAGGTACATTTAAGTGAAAAGATAAATGTAAAAAGCTGTTCATATCAAAGCCAAATAGAAATGATTTTTATGCTTATAATTTACATGGTGCAATATATCTTTTTAATTTGTTTACTTTTCACCTATTTGTGTTTTTGAAGTTCATCCCATAGCATATAGTTTGGGTCTTGCTTTTTTATTTAGTCTAATGATCTCTGCCTTTTACTTAGCATTTGTCAATTTACATTTACTGTAATTATTGATATGTTTAGATTGAGTTTACCATTTGGCTTTTTTCTTTGCTCCTCTTTTCCTGCCTTCTTTCAGGTTGAATATTTTTATTATATATCATTATATCATTATTATTATATATTATATATCATATATTAAGATATATGAGAATATCAGCATTCN | benign | 287,290 |
Mutation found at chromosome 18 position 6947269, gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | AAAAACATGCAAATAGATACAAAAGTTTTTAAAGTATAGATGAGGGAAAAAGTTGGCTGTAAGTCAGTGTAGAGAGGCAGCAATATGACATCAAGTTAGTTCTGGTTTGTCATGAATCGGAAAAGAGGTGAAGGGCAAAAGGTCAGACATGACCTTTCAGATCCTCCCCACCCCCACTCTAGGATATCCTAGGGGTCAAAACCCAGCGGGGAGTAAGTAGGGAAATACCAGAAACAACCGGTAAGTCCTGGGGAATCTAGAACATGGAGACTTTTTCCTTGCCTTCCAAGAGGCACTAGTGTTGGAAAATTCAGGCATCTTACTCCCACAACAACAAACATTGACCACAGTGCTGCAGAAATGCTGGTAAAATGTAGTTAGGTAGAGAGAGGACCAGAGAGACACCATCCCTGATTCCCCATGGCCTCTGTGTGGCTTGGCAGAAATCCCCAAGTTTGCACATGACCCCACGGGGAAGCGGGAAGATGAAGAGGTGGCACTACTCATGACAACCAGGATGAGAAGCCTGAGCTGAAATGGACGCTGGCCAAACTCTCCAGGAGCAGCCCCCATGCAGGGGCAACACTGAGACCCCAGACCACTCACTGTAAGAGGCTGCCCTGAAGACCACGATATGGCTATGGCTCAGCTGCTGTCCACTAGAGAGCCCACAGAAAGGAAAAGGGCCATCGAGACTCCCTTCCCCGCATCCTGCCTGCGCCCAGACAGCCCCAAAGGGGAGAGGAAGGGAAGTGAGAACTGGGAGAAACTGTGAAGGAGGCGGTTTTCAAGCAGGAGACTAAAGGACTAGTACTGCAAATTGTGGAGTTCATTTTGTTGCCAGCAGGAGAGGGACATGAGAGGCTGAAAAGCAAGGGCAGAACAGTCACAGAAAAAAATAACATGTTCTACATTAAAAAAAAATTATAGCATGGTACGTCTATCCCACAGAGTAATACGCCACCACAAAAGGGAACGGACTGTTGATATGCACAACCACCCAGATGACCTTCCCAAGATCAGGCTGAGTGTGAAAAGCTGATCTCATAAGGATACCTACTGCGTTATTTCATTTATATAACACTGGCAAAACAGAAATTAGAGGGACAGCAAACAGATTAGTGGTTGCCTAGGATTAGGGGTACAGGAGTTGGGTGTGGCCATGATGGGGTATTAAGGGGGAGCCTTGTAGTATTGATACAATTAAGTATCTTGATTGTGCTAGAAAAATGCATAATGTTTGTAATCCCAGCACTTTGGGAGGCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGAACAGCCTGACCAACATGGTGAAACCTGGTCTCTACTAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCTAGCTTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAGAAAAAAAATGCATAGTGCTACCACTGGGAAACCTGGGTCTGGGTGAATGGTGCATGGGGCCCTCCCTGTACATTTCATTGCAACTTCCTATGAATCTGTAATAATTTCCAAATAAAAAGTTAAAAAAAATTATTAGAAGGGATAGGGCATCAGGTCAGCAGCTTATTCTCAGATGGTTCAGGAAAAAAAGTTCTTTGTATTATAGTTGTAATTTTGCTGAAAGCTTACTTTCAAACATATAAAAAGTTATTTTTGAAAAGCTTTTAAAAAATAAACCAAAAAGGTTTTCTTGTAGCAATATCTGTTTTTAAAATAGTAATGGGACCATTGTTTGACTCCATGAAAATAGATAGTTGTGAATTTGAATCTGCTGTTTCTCAATTGCTCTGTCTCTGACACTGGGGGGAGGAAGACCCTCATGGAGAGGAAGCACCCACCTTGCCGTCCACAAGCTCTAGTCCAATGGCATCCACTTTGGCAGTGCTGATCCCCAGGAGGACGCCATTCTGCGAGGAGGTTCGAAACTCCAGTGTGATGTTCACATCTGACTGGACTTTGTAGCCCTCTTTGACTGTAACACACAAGGAGGACCCAAGTCAGGGTGAGCGCTGCCAGGCCCAGGTTGAGCATTTGGCCTCCTGGCTAGGGGTTGGGGGACCTGGCTCTAGCTCCTCCTTTGGATCCAGCTGCATCCCCACCAGCAGGTCACTCCTGCCCTCTGAGCCTCGGCTTCCACATCTGGGAGATGACGTGGAGCTTTTAAAGAAGACGCATGCAGTCAGCCAGGTCAGAGCAGAGCCAGGCACCTCCTTCATCTGTGGCCACAGAAGCACGTGGCCCTGCCTCACCCTGTGGACACGTCCTCCCTGCGGCAGTCTTTCCCGTGGGCTGTTGGGATTTGATCCCTGGAATCCCTTTATCATCATCCGAGAATAGTCCACTTTATTTTCCTAGTATCTGTGTACTTGTGGGAATCATCATTTACTGAGTGTATCAGAGTCCATACTAAGTTTGTTAAAGGTGGGGATTGAATGGAATGCTTTTTTAATTCAGGTGATAAAAAAGCCGAGGAGCCACACTGGGTGGGGCTATTGACAACAGCAGGCAGTTGTTACCATGCCCAGGGCTGAAGGGAAAAGGGGAGAAGATGGTATGCCCAGAGCTGGGGGGTGCAAGGGGAGCTGAGGCCATGGAGGGGGCTGCCCAGCAGGGCTGGAGCCTGAGCCCCAGGAACAGGAGAAAGGAAGCACAGAGTGAACGAGAGATGTTCTGCTGGCTTCCCCCTCTTCCCCACCCAAACTTCTGCACAGCCTCCCTGGCGCCAGCTGGTCTAGACATTTTATGCTGCTGATTTTTAATTCAAAGCCCTTTCTTAACTTGGACAGTAAGTGTGCATTACAGAACCTGGGGAAACTATAGATGAAACTAGCACCCCATGTCTGGCCTCTGTCAGGAGTCACACCACTCCTTGGGGGAGACTTTGTCAGGCCATCCAGATAGCACAAGACCTGAGAAGGCTTTTTACGCCAAGAAATTAGGAATCAACTGGAATACTAAACTCAATGTGGTTTTCCTGCAGCCTTGTCCAGTGGGTCCTGTCTTATACTCTTGGATCCACATCGCTTTAGAGTACAGACTCATTCGGGGACTGCCTTCGAGAGTGTTGCTAACACATACCAAGAGCTGCATATCCGCTTCCGTCAAAGTATGTTCCTTCCTGGGCCACTGCGTAGCACCTGTTCACCGTGAAGGCAGACACCGGGCTGTCCTTGTCCAGCTGTTTGCTGTTAACCGTCACATCCCCAATGCAGGCAGGGATGCTGTGGGTGATCTAAGCCAAATGACATGCAAGAGTAGACAGTGGTGATTCTAATGGGAAGGGTTTGGACACATTTTCCTTCCACTTCATCAGACTGGTCTCAGCAAAACACATTAAAATGTAATCTTTTTGTTTTAAAACTTTAATTGCCACAATACTTCACATGAATGTCTAAGTTAGAGCTACCATTTGAGTATCTTTGCTAATAATGCAGTGGAAGTGTTTTCTATTATTTTAGTGAAATATTGTGGAAATCAAAAAATGCTGAGTTTACTAATGTGCGAATATGCATTTGCTGGGCTTCCCTGAATTGTGCTGTGGCCACGTGGCTGCGGAAAGGGAGATGTTCATTAACTAACAGGCTGGAAAGACTGATCGGGTTCTGAGGGGCGGCCCTGGCACACGATCTGTGGACATGCCTGCAAAGTAAACCTCTTCACAAGCCCCAGGTTCAAACAAGGTAATTTAAACATAAAGATGCCGTGAGGTATGCTCTTCTACAAAATAAACACGAACACAACGAAGGTAAAATGTCAGTATGGAAAATGCTGCTTACATTTCCAATTTTCCTGGCCTGGTACTGGGAGGGCAGGCCTCCTAGGTAGAACAAACCCTCCACATCCAGCATGGTTCCATCTCCCACCACAGTCACCATGGGAGACTCTCGGCCGTCGACAGTTATGAAGCCTTTTCTTTTAACATAGTCTGTCTTGACCTACAGCAAAGTGAAAACATGCATAATTTTTGAGGAATCTGAAAAAACTTTTAACAG | AAAAACATGCAAATAGATACAAAAGTTTTTAAAGTATAGATGAGGGAAAAAGTTGGCTGTAAGTCAGTGTAGAGAGGCAGCAATATGACATCAAGTTAGTTCTGGTTTGTCATGAATCGGAAAAGAGGTGAAGGGCAAAAGGTCAGACATGACCTTTCAGATCCTCCCCACCCCCACTCTAGGATATCCTAGGGGTCAAAACCCAGCGGGGAGTAAGTAGGGAAATACCAGAAACAACCGGTAAGTCCTGGGGAATCTAGAACATGGAGACTTTTTCCTTGCCTTCCAAGAGGCACTAGTGTTGGAAAATTCAGGCATCTTACTCCCACAACAACAAACATTGACCACAGTGCTGCAGAAATGCTGGTAAAATGTAGTTAGGTAGAGAGAGGACCAGAGAGACACCATCCCTGATTCCCCATGGCCTCTGTGTGGCTTGGCAGAAATCCCCAAGTTTGCACATGACCCCACGGGGAAGCGGGAAGATGAAGAGGTGGCACTACTCATGACAACCAGGATGAGAAGCCTGAGCTGAAATGGACGCTGGCCAAACTCTCCAGGAGCAGCCCCCATGCAGGGGCAACACTGAGACCCCAGACCACTCACTGTAAGAGGCTGCCCTGAAGACCACGATATGGCTATGGCTCAGCTGCTGTCCACTAGAGAGCCCACAGAAAGGAAAAGGGCCATCGAGACTCCCTTCCCCGCATCCTGCCTGCGCCCAGACAGCCCCAAAGGGGAGAGGAAGGGAAGTGAGAACTGGGAGAAACTGTGAAGGAGGCGGTTTTCAAGCAGGAGACTAAAGGACTAGTACTGCAAATTGTGGAGTTCATTTTGTTGCCAGCAGGAGAGGGACATGAGAGGCTGAAAAGCAAGGGCAGAACAGTCACAGAAAAAAATAACATGTTCTACATTAAAAAAAAATTATAGCATGGTACGTCTATCCCACAGAGTAATACGCCACCACAAAAGGGAACGGACTGTTGATATGCACAACCACCCAGATGACCTTCCCAAGATCAGGCTGAGTGTGAAAAGCTGATCTCATAAGGATACCTACTGCGTTATTTCATTTATATAACACTGGCAAAACAGAAATTAGAGGGACAGCAAACAGATTAGTGGTTGCCTAGGATTAGGGGTACAGGAGTTGGGTGTGGCCATGATGGGGTATTAAGGGGGAGCCTTGTAGTATTGATACAATTAAGTATCTTGATTGTGCTAGAAAAATGCATAATGTTTGTAATCCCAGCACTTTGGGAGGCGAGGCGGGCGGATCACGAGGTCAGGAGTTCGAGAACAGCCTGACCAACATGGTGAAACCTGGTCTCTACTAAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGGACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCATTGCACTCTAGCTTGGGCAACAAGAGCGAAACTCCGTCTCAAAAAGAAAAAAAATGCATAGTGCTACCACTGGGAAACCTGGGTCTGGGTGAATGGTGCATGGGGCCCTCCCTGTACATTTCATTGCAACTTCCTATGAATCTGTAATAATTTCCAAATAAAAAGTTAAAAAAAATTATTAGAAGGGATAGGGCATCAGGTCAGCAGCTTATTCTCAGATGGTTCAGGAAAAAAAGTTCTTTGTATTATAGTTGTAATTTTGCTGAAAGCTTACTTTCAAACATATAAAAAGTTATTTTTGAAAAGCTTTTAAAAAATAAACCAAAAAGGTTTTCTTGTAGCAATATCTGTTTTTAAAATAGTAATGGGACCATTGTTTGACTCCATGAAAATAGATAGTTGTGAATTTGAATCTGCTGTTTCTCAATTGCTCTGTCTCTGACACTGGGGGGAGGAAGACCCTCATGGAGAGGAAGCACCCACCTTGCCGTCCACAAGCTCTAGTCCAATGGCATCCACTTTGGCAGTGCTGATCCCCAGGAGGACGCCATTCTGCGAGGAGGTTCGAAACTCCAGTGTGATGTTCACATTGACTGGACTTTGTAGCCCTCTTTGACTGTAACACACAAGGAGGACCCAAGTCAGGGTGAGCGCTGCCAGGCCCAGGTTGAGCATTTGGCCTCCTGGCTAGGGGTTGGGGGACCTGGCTCTAGCTCCTCCTTTGGATCCAGCTGCATCCCCACCAGCAGGTCACTCCTGCCCTCTGAGCCTCGGCTTCCACATCTGGGAGATGACGTGGAGCTTTTAAAGAAGACGCATGCAGTCAGCCAGGTCAGAGCAGAGCCAGGCACCTCCTTCATCTGTGGCCACAGAAGCACGTGGCCCTGCCTCACCCTGTGGACACGTCCTCCCTGCGGCAGTCTTTCCCGTGGGCTGTTGGGATTTGATCCCTGGAATCCCTTTATCATCATCCGAGAATAGTCCACTTTATTTTCCTAGTATCTGTGTACTTGTGGGAATCATCATTTACTGAGTGTATCAGAGTCCATACTAAGTTTGTTAAAGGTGGGGATTGAATGGAATGCTTTTTTAATTCAGGTGATAAAAAAGCCGAGGAGCCACACTGGGTGGGGCTATTGACAACAGCAGGCAGTTGTTACCATGCCCAGGGCTGAAGGGAAAAGGGGAGAAGATGGTATGCCCAGAGCTGGGGGGTGCAAGGGGAGCTGAGGCCATGGAGGGGGCTGCCCAGCAGGGCTGGAGCCTGAGCCCCAGGAACAGGAGAAAGGAAGCACAGAGTGAACGAGAGATGTTCTGCTGGCTTCCCCCTCTTCCCCACCCAAACTTCTGCACAGCCTCCCTGGCGCCAGCTGGTCTAGACATTTTATGCTGCTGATTTTTAATTCAAAGCCCTTTCTTAACTTGGACAGTAAGTGTGCATTACAGAACCTGGGGAAACTATAGATGAAACTAGCACCCCATGTCTGGCCTCTGTCAGGAGTCACACCACTCCTTGGGGGAGACTTTGTCAGGCCATCCAGATAGCACAAGACCTGAGAAGGCTTTTTACGCCAAGAAATTAGGAATCAACTGGAATACTAAACTCAATGTGGTTTTCCTGCAGCCTTGTCCAGTGGGTCCTGTCTTATACTCTTGGATCCACATCGCTTTAGAGTACAGACTCATTCGGGGACTGCCTTCGAGAGTGTTGCTAACACATACCAAGAGCTGCATATCCGCTTCCGTCAAAGTATGTTCCTTCCTGGGCCACTGCGTAGCACCTGTTCACCGTGAAGGCAGACACCGGGCTGTCCTTGTCCAGCTGTTTGCTGTTAACCGTCACATCCCCAATGCAGGCAGGGATGCTGTGGGTGATCTAAGCCAAATGACATGCAAGAGTAGACAGTGGTGATTCTAATGGGAAGGGTTTGGACACATTTTCCTTCCACTTCATCAGACTGGTCTCAGCAAAACACATTAAAATGTAATCTTTTTGTTTTAAAACTTTAATTGCCACAATACTTCACATGAATGTCTAAGTTAGAGCTACCATTTGAGTATCTTTGCTAATAATGCAGTGGAAGTGTTTTCTATTATTTTAGTGAAATATTGTGGAAATCAAAAAATGCTGAGTTTACTAATGTGCGAATATGCATTTGCTGGGCTTCCCTGAATTGTGCTGTGGCCACGTGGCTGCGGAAAGGGAGATGTTCATTAACTAACAGGCTGGAAAGACTGATCGGGTTCTGAGGGGCGGCCCTGGCACACGATCTGTGGACATGCCTGCAAAGTAAACCTCTTCACAAGCCCCAGGTTCAAACAAGGTAATTTAAACATAAAGATGCCGTGAGGTATGCTCTTCTACAAAATAAACACGAACACAACGAAGGTAAAATGTCAGTATGGAAAATGCTGCTTACATTTCCAATTTTCCTGGCCTGGTACTGGGAGGGCAGGCCTCCTAGGTAGAACAAACCCTCCACATCCAGCATGGTTCCATCTCCCACCACAGTCACCATGGGAGACTCTCGGCCGTCGACAGTTATGAAGCCTTTTCTTTTAACATAGTCTGTCTTGACCTACAGCAAAGTGAAAACATGCATAATTTTTGAGGAATCTGAAAAAACTTTTAACAGN | pathogenic | 287,314 |
Is the genetic variant on chromosome 18, position 6966187, gene LAMA1 (laminin subunit alpha 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | TAAAGGCAATACATATAAAATCACTAATTTTTCTGCAGAAGGCCTGCTTTACTTCTCAAATCACATGGCATAGAGTACTCTGAATAAATAGAAGCAGATGTTACAGGTTGAACCGTGTCCTCCCAAAAGATGTGGTAGTCTTGATCCTCCTTATGTGTGAATGTGGCCTTCATTTGGAAAAGGTCTTTGCAGAGGTAATCAAGTTAGGATGAGGTCATTAGGGGAAGTCCTTATGCAACATGACAGTTGTCCTTATAAAAAGGGGAAATGTGGACACAGGACCCAGGCCAAGGAATCCCTGAGGCGACCAGAAGCTAGGAGCATGGAACAGATTCTCTCTCACAGCCCTCAAAAGGAAGCAAGCCCTGCCAACACCTTGCTTTTGGACTTGCAGCCTCTAGAACTGGGAAAGAATAAATTAGTGTTGTTTAAGCCACCTGGTTTGTGATACAGTCCATTCTCAGCCCTAGCAAGCTAATAAAGTTGGAAATCAGCGACATGAAAATTCTGCAGTTTAATATACCTTACAACTCTTGACCTTGGTAATCCACCCACATAAATCGGGTCCTTGTCTAGGCGGTTGAGGTCAGAAGATGCTCCCGGAGTCTCGCCCTGCTTGGTTTCTTTATTACTGGTGTTATAGGCATCGATAACTGCTAGCACTCCTAAAAGGAGAGCACAGGCAAGAGATAAGAAAAGGAAAATCCCTTTCCATGTTAAGGTAAAATGCAAACTTCTGGCAACAAAGCTCATTTACAAATGCATATTCTTTTAGATTCTGCGAATTTGATCAGCTAATGTTCTTGGCTATTGAAGGACAAGTGAAAATCCTCTCTATCAAAGTCAATACACATTGCTAAATAAGAGCAGTATGCATGTGGAAGAAAACAGAATGGATTTGATTCTTGATTCCAATCCAGCATTTACTGTTAAATAACACACTTGGAAATCACAGGCAAATACAAGTATAACCCTCCTCCAGCAAAATGTGAATCCTGTTGGTTAGTATTCCAAAGACAACACTGGCTTCCAAGTAGACTATCATTCAATACCCAGGAAACTACTGTGGAAAAAAAGAATGCTGATTTTGAAAAGATTTCTATTCTTATGAGGGTGACCGACATCTGGTGAGTCCATCTGTGTCCCTACCTTGCTTCCGGTTTCGCTGGAAGGCAATTTTGTACCAGGTTCCATTGTTATAACGTCTGTCTGTCAAAAGGGTAATGGGTCCTGAACCCAGGTCAGTCATAACCTTCACTCTGCCACGAAACAGCTCGATGGATAAAAAGTCTTTCTGTAAAAAAGAGAACACAGTTCCCCAGGTTATAGCTTTATCCCAGGTTTCCCTTTCCCTTCAAGTCAGGGATGGCTGAAACCTTCTAAAGTCAAACTGAGAAAACTGGATCTGGCCCCACAGCCAGAGGTCTATCGGCTACGAAACCAAAAATGCCCACGAAGGCTTTCTAGAACACTACACTAATATAAATGAAATGTCATCTGTTGTTACCAAAATCCACAATTCAGTAAGAGAAGTGGAATCTCCTCGTATCTTTTTCATTGAGACTGACAAGGGGCCCGTTCTAAAAAATAAAACCAAAAGACTGAAAGACAGAAATCACCAGCCCATGAGATGCAAACAAGAACATGAAATTCCCATGGATGGAATTCAAACAATGTCACGGTGGTCACAGTGAACCCAGAACAAGACATATTATTTGAGCTCGAAATTTAATAACAAATGTTGAATTGATATCTATAAAGACTAGAAGGCTAGTTTCTACTTGGTGTTCTTCTATATTTTTCTAAAGGTTCTACAATGATAATAAATAATTTAAAATGAGGAAATTGTTTAGCACACACATATATTAATACTAGCATATGCTCATAAAAATTGTATGGTATACATATGTACATATTTAATTAGTAAATCCTCATTAAACATAAACAACCACATAGCAATCTAAATGTGTGTATACAGTAGGGCCTAGGGCCGCACAAACACTCTTACTGTGCCGTATGAACCCAGGTAGAGAAGAAGTCCATTAGGTGAAAAGGTATTAAAAAGCATGATTATCTGGGTCACGGTAGCCGGAAGTGACTTCTCCACGACAGAGTACCCACTCCCGTCAAAATGGAAGGAAGGGTCTTCATTCTGGGAGCTGCAAAGCAGAAGAGATGAAATAGAATCCATTCTCAGGAGGGTAGAAAGAACCAAGAACACACTTACTGAGTTCTCCTTCACAAAGATCACTGTAGAGCTATTAGTTCCATACTTTCATAACAAGTGTAGATGATAATATTTAAAAATATGCTTGCCATGTGAAGATGCAAGACAAATGCCCAGCTGCTTTATAAGGAAAATAATGTTAATGTAGGCAGTATTCATTGTGGTAAAAATACATTTCTTTACAGGAGGATAACTGCTATAAATATTTCAGTTTATCAACTGGATTTATTTATTCTAATCTCCTTTAATATAACTGTCCTCTCTTAACTCTGGTGCCTTCAGAATAATTTTTATATTGACATTTTCACTTTGCTGATGAGGTTTTATCTAATACCTTAGGGAAACTAGAGTTATGATGGAAAGCAAGTATGTGCCCATATACCAGAAGCATCACTTCACAAAACAATCATCACTGACATCCTCAAAAATCTGCAGGATGAGCTTAAAGACCCATATCATACTTAGAGATGAGTACGTAGGTTGAAACAGGGATATAATACGGCCCAGGGCATTTTCAGGTGAGTGTGTTTTCTGGTCTTCTCCCCCAACAGAGCAAAAGGCTGACTTGACTCACTATTCAATCGCAAAGCCATTCATCTGGAACAGATCATAATTATGTTCCAAAAATAATTTTCTGGAATATCATGAGGCTTGAGAGTGAAACTTGGATGAGGATAGTTTTTGGGTAAGAATTTGAACTGTTCCCAGTTAGAGGTGTAACAACAAAACTCAGTGCCACATTTCCAAGCAAGGCAGTCTAACCAAACAGTAAAATCGTTTCCATGGATGATAAAAGAAAACAAAACAAAAAATAGTGCTTTGTGAAACCTGAGGTTTCAAATGTATAACTATAACTACCTGCACTCTTGCTTTTTCAAAAATTTCCATCATGTGGTCTCTTTGAGGAATTATAACTTAAAAGAAATGCACTCTAGATAAATTCTTCAACTATGGTTTAATTCTTTAATTCTTAAGCCTGTGGCTTCCTAGCCATATGTTCCATTGTTCTACCTCTTGGCCAACCACAGTGCATGTGCCGGAGGATAGAGACTCTAGAGCTAGACTACTAGGGTTCAAATCCCAGGTCCCCAACATACTAGCTGTGTGAACTTGGAAAACTCACCTAACCTCTCTGTGTGCCCTTTCCTTCAGCTATAAAACAGGGATAACCATAAAACCTCTCTGGGAGGGCTGCCCCAGGCAGTTCTTAGAACAGTGCCTGGCACACAACAGATGTTTTCTCTCATTATTCTGCAGTGTTCGGAGGTCCTCGATGGGCCGGTCTTCATTTCTGCCTATGAAAAGCTGAGCCTCAAAGATTAAAGTACCTTGTTCAAGGACACACCCCAAGAAATCACAAAGCCAGGTTTCAAACAAAACTCCAGAAATTTGTCTTGGTCCTCAGTGCATGGCCCTTCCCTCTCCAGAGCCCGTGAGCCCTCCTCTCCCAAAAACATGGGGGCTTTCTCCCTTCCCAGAGCCTGTGAGCCCTCCTCTCTCAAGAACGCGGGGGCTCTGCTACTGGGTTCTCTCCCCAAACAGGGCCTGCTGGAGTGAGGTGGCCACGAAGAGGGGGACCTCAAATGAAATGATGACTGAACATGACCGAAGGCTTGTCCCCATGTCAGTCACTTCCCTGAACTTCTCCCAGAGCCCCTGCCAGTTTCCAGACTATGACCAGAGGCACATGTGCCTCAACAGTCGGCCCAGGTGCCTGTTCCCCAAGTGGGTCTCTGCCTTGGTAAGGGCCCAGGACAAATGAAAGCTCGGTTCATCACAGCACTTTGTGGACAGCTCTGTTCCAGCCTTGGAAATGCCACCATCACCCGCAGGTTCAAGTGGGAGCCTGGAATTAGGAGAGCGTCCGCC | TAAAGGCAATACATATAAAATCACTAATTTTTCTGCAGAAGGCCTGCTTTACTTCTCAAATCACATGGCATAGAGTACTCTGAATAAATAGAAGCAGATGTTACAGGTTGAACCGTGTCCTCCCAAAAGATGTGGTAGTCTTGATCCTCCTTATGTGTGAATGTGGCCTTCATTTGGAAAAGGTCTTTGCAGAGGTAATCAAGTTAGGATGAGGTCATTAGGGGAAGTCCTTATGCAACATGACAGTTGTCCTTATAAAAAGGGGAAATGTGGACACAGGACCCAGGCCAAGGAATCCCTGAGGCGACCAGAAGCTAGGAGCATGGAACAGATTCTCTCTCACAGCCCTCAAAAGGAAGCAAGCCCTGCCAACACCTTGCTTTTGGACTTGCAGCCTCTAGAACTGGGAAAGAATAAATTAGTGTTGTTTAAGCCACCTGGTTTGTGATACAGTCCATTCTCAGCCCTAGCAAGCTAATAAAGTTGGAAATCAGCGACATGAAAATTCTGCAGTTTAATATACCTTACAACTCTTGACCTTGGTAATCCACCCACATAAATCGGGTCCTTGTCTAGGCGGTTGAGGTCAGAAGATGCTCCCGGAGTCTCGCCCTGCTTGGTTTCTTTATTACTGGTGTTATAGGCATCGATAACTGCTAGCACTCCTAAAAGGAGAGCACAGGCAAGAGATAAGAAAAGGAAAATCCCTTTCCATGTTAAGGTAAAATGCAAACTTCTGGCAACAAAGCTCATTTACAAATGCATATTCTTTTAGATTCTGCGAATTTGATCAGCTAATGTTCTTGGCTATTGAAGGACAAGTGAAAATCCTCTCTATCAAAGTCAATACACATTGCTAAATAAGAGCAGTATGCATGTGGAAGAAAACAGAATGGATTTGATTCTTGATTCCAATCCAGCATTTACTGTTAAATAACACACTTGGAAATCACAGGCAAATACAAGTATAACCCTCCTCCAGCAAAATGTGAATCCTGTTGGTTAGTATTCCAAAGACAACACTGGCTTCCAAGTAGACTATCATTCAATACCCAGGAAACTACTGTGGAAAAAAAGAATGCTGATTTTGAAAAGATTTCTATTCTTATGAGGGTGACCGACATCTGGTGAGTCCATCTGTGTCCCTACCTTGCTTCCGGTTTCGCTGGAAGGCAATTTTGTACCAGGTTCCATTGTTATAACGTCTGTCTGTCAAAAGGGTAATGGGTCCTGAACCCAGGTCAGTCATAACCTTCACTCTGCCACGAAACAGCTCGATGGATAAAAAGTCTTTCTGTAAAAAAGAGAACACAGTTCCCCAGGTTATAGCTTTATCCCAGGTTTCCCTTTCCCTTCAAGTCAGGGATGGCTGAAACCTTCTAAAGTCAAACTGAGAAAACTGGATCTGGCCCCACAGCCAGAGGTCTATCGGCTACGAAACCAAAAATGCCCACGAAGGCTTTCTAGAACACTACACTAATATAAATGAAATGTCATCTGTTGTTACCAAAATCCACAATTCAGTAAGAGAAGTGGAATCTCCTCGTATCTTTTTCATTGAGACTGACAAGGGGCCCGTTCTAAAAAATAAAACCAAAAGACTGAAAGACAGAAATCACCAGCCCATGAGATGCAAACAAGAACATGAAATTCCCATGGATGGAATTCAAACAATGTCACGGTGGTCACAGTGAACCCAGAACAAGACATATTATTTGAGCTCGAAATTTAATAACAAATGTTGAATTGATATCTATAAAGACTAGAAGGCTAGTTTCTACTTGGTGTTCTTCTATATTTTTCTAAAGGTTCTACAATGATAATAAATAATTTAAAATGAGGAAATTGTTTAGCACACACATATATTAATACTAGCATATGCTCATAAAAATTGTATGGTATACATATGTACATATTTAATTAGTAAATCCTCATTAAACATAAACAACCACATAGCAATCTAAATGTGTGTATACAGTAGGGCCTAGGGCCGCACAAACACTCTTACTGTGCCGTATGAACCCAGGTAGAGAAGAAGTCCATTAGGTGAAAAAGGTATTAAAAAGCATGATTATCTGGGTCACGGTAGCCGGAAGTGACTTCTCCACGACAGAGTACCCACTCCCGTCAAAATGGAAGGAAGGGTCTTCATTCTGGGAGCTGCAAAGCAGAAGAGATGAAATAGAATCCATTCTCAGGAGGGTAGAAAGAACCAAGAACACACTTACTGAGTTCTCCTTCACAAAGATCACTGTAGAGCTATTAGTTCCATACTTTCATAACAAGTGTAGATGATAATATTTAAAAATATGCTTGCCATGTGAAGATGCAAGACAAATGCCCAGCTGCTTTATAAGGAAAATAATGTTAATGTAGGCAGTATTCATTGTGGTAAAAATACATTTCTTTACAGGAGGATAACTGCTATAAATATTTCAGTTTATCAACTGGATTTATTTATTCTAATCTCCTTTAATATAACTGTCCTCTCTTAACTCTGGTGCCTTCAGAATAATTTTTATATTGACATTTTCACTTTGCTGATGAGGTTTTATCTAATACCTTAGGGAAACTAGAGTTATGATGGAAAGCAAGTATGTGCCCATATACCAGAAGCATCACTTCACAAAACAATCATCACTGACATCCTCAAAAATCTGCAGGATGAGCTTAAAGACCCATATCATACTTAGAGATGAGTACGTAGGTTGAAACAGGGATATAATACGGCCCAGGGCATTTTCAGGTGAGTGTGTTTTCTGGTCTTCTCCCCCAACAGAGCAAAAGGCTGACTTGACTCACTATTCAATCGCAAAGCCATTCATCTGGAACAGATCATAATTATGTTCCAAAAATAATTTTCTGGAATATCATGAGGCTTGAGAGTGAAACTTGGATGAGGATAGTTTTTGGGTAAGAATTTGAACTGTTCCCAGTTAGAGGTGTAACAACAAAACTCAGTGCCACATTTCCAAGCAAGGCAGTCTAACCAAACAGTAAAATCGTTTCCATGGATGATAAAAGAAAACAAAACAAAAAATAGTGCTTTGTGAAACCTGAGGTTTCAAATGTATAACTATAACTACCTGCACTCTTGCTTTTTCAAAAATTTCCATCATGTGGTCTCTTTGAGGAATTATAACTTAAAAGAAATGCACTCTAGATAAATTCTTCAACTATGGTTTAATTCTTTAATTCTTAAGCCTGTGGCTTCCTAGCCATATGTTCCATTGTTCTACCTCTTGGCCAACCACAGTGCATGTGCCGGAGGATAGAGACTCTAGAGCTAGACTACTAGGGTTCAAATCCCAGGTCCCCAACATACTAGCTGTGTGAACTTGGAAAACTCACCTAACCTCTCTGTGTGCCCTTTCCTTCAGCTATAAAACAGGGATAACCATAAAACCTCTCTGGGAGGGCTGCCCCAGGCAGTTCTTAGAACAGTGCCTGGCACACAACAGATGTTTTCTCTCATTATTCTGCAGTGTTCGGAGGTCCTCGATGGGCCGGTCTTCATTTCTGCCTATGAAAAGCTGAGCCTCAAAGATTAAAGTACCTTGTTCAAGGACACACCCCAAGAAATCACAAAGCCAGGTTTCAAACAAAACTCCAGAAATTTGTCTTGGTCCTCAGTGCATGGCCCTTCCCTCTCCAGAGCCCGTGAGCCCTCCTCTCCCAAAAACATGGGGGCTTTCTCCCTTCCCAGAGCCTGTGAGCCCTCCTCTCTCAAGAACGCGGGGGCTCTGCTACTGGGTTCTCTCCCCAAACAGGGCCTGCTGGAGTGAGGTGGCCACGAAGAGGGGGACCTCAAATGAAATGATGACTGAACATGACCGAAGGCTTGTCCCCATGTCAGTCACTTCCCTGAACTTCTCCCAGAGCCCCTGCCAGTTTCCAGACTATGACCAGAGGCACATGTGCCTCAACAGTCGGCCCAGGTGCCTGTTCCCCAAGTGGGTCTCTGCCTTGGTAAGGGCCCAGGACAAATGAAAGCTCGGTTCATCACAGCACTTTGTGGACAGCTCTGTTCCAGCCTTGGAAATGCCACCATCACCCGCAGGTTCAAGTGGGAGCCTGGAATTAGGAGAGCGTCCGC | pathogenic | 287,345 |
Evaluate this variant at chromosome 18, position 6977772, gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic | CTTCAGAAACGCCACTTTCCTTCTCACAGGCATTCCATTTGGTAGTTTGTTCATTTTTCATCTAATGCTACCATTTTAACAAAGGTTAGTCCCTATGGGAGATTTAGAGATTTCACTAAGGCCTATTTTTTTTTCGTCAAATAAGTGAAAATTCAGAAAAATCTAGAAGTGCATAAAAGATTCAGTGTCGCTTTCCAAAGGTCCATAACTTACAGCGGTGCTGCTACCGAGGTAGAAGAGAAGATTATCGGGTTCCTGTGTCTTAACATTTAGTGTTAAGGTATTGTAGTTGGTAGAGGAAATCTGAGGCTGGTAGGCCCGGATGCAATCTCTGTCTGCAGACACGGCGACTTTAATCTGTAGAAGGAAAATGAAAGTGTCCCCATCATTTAGTGACACACACCGGCAGCTCACCAGCAGCTCAACAATGCTATTCTGTAATGAATTTTCACTGAGGCAGGTTTCCTCTCTTGATAACATACAATGGTTCATGTTTCATGAAGTGACATATCAGATGGTAACAAAAATGATTTCATTAAGTGTTTAAATATGAGAAAATCAGTGTTAGTTTTTAATAAGTTATTTTATATAGGAAACTGTCTTGCTCATATAAGATTTAATTCCTTAAAGACAAGGATCTTATCACCTTGGAATCTTTCCGCCTGACACAAAGAAAGAGGGTATTTGATAATCATCTGTTGAATAAATGGAGAGGTAATATATTTATTCACTCAGCAGATATTTATAGAGCAATTATTGCACTTACTACATATTTCTTTGACTAGTAATTCGTTGCATATGTATCTTACATTAAAGAGTCTAAGTTTGGTATTAACCTAGCATCAAGAAGCATTCCTTGGGCTTATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTGAACTCCTAGGCTTGAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTTCACACCACCAAGCCTGGTTATTATTATTATTTTTTTTAGTAGAGACAGGATCTTATTATGTTTCCTAAGCTCATCTCAAACTCCCGGCCTCAAGCAATCCTCCCACCTCAACCTCCCAAATTGTGGGAGTTACGGGTGTGAGCTACCAGGCCCAGCCTGTATTTATTTAGCAATTGTAACTGAAACAGATGCAAGCCAGAGCTCATGGAAACCAACATTCCTTTTCCAATAGCAAGGACACTTGAGGTTTTGGAAAAGACAGAGCCCTGTGCTCCTTTCTCTTCCCTAGAAAGCCTCAGGTGGACAAATGCAAGCCCAGAGGCTGCATTCATCCTCTCGAAGTCCCCAATCACATGACGACTGCACATTCTCTCAAAAGGAAACTTTTTCCCTTAGGGCACAGCCAGTGCCATGTGCCATGGGTAAAACATCTTCTCATGTGTGAACTGCTCCAGGTGTCCAGTGCCTCAGGCATTTAGTGACCTGGATTTGTGCAGCCTTCGTTGCATACAAACTGTTTTCTCAGACACCTCAAGGATGAGGCCCATACTACACAAACATTTTAAGGAATACTTGGATTATTAAAACTAAGTTGGTAAAACGAAGAACTAACACCACATGCAACCCATAAACTTAAGAGTGATGTTAACACGTAGATTTGACATGTTCCGCACTGTCCAGGCTAATAGTTTTAAATTTAGTCTATAATGATAAATCTCCATAAAGACATGGAAATCTCTTTGCTAACAACATTTTGAAGCATGTTGAACAAAAGCAGAACTCAAAGAAAATGAAGCTAGTTATTGGCTTTAAATATACCAAGACAGGGCTATGAGGAAGCCCAGATTATTGGGATCTGGGTCTTTGGAAGCCCTAAGGGGCGCAGTGTGACTGAGGGCCATGTCTGCATGAATTCCCTGGGACCCCACATGACTGAGAGCCCAGTTACGAAAGCCACGGGGCCCCAAACTCACAGAAGCTGCTTGTTTGCGGGCCTGGCTGATCAACAGTTTAATTTCTGATAGGTTTCTGCTCAGATTCTCCTCTAACATCTTCAAAGGCTTCAACCGATCAAACAAAAGGTTGGCTTGAATTTCCACGTCTTTGACTTTTCTTCCAGCCAACAGAGCTAACAAATACAAGAAGGCAAGGGGTGGCAAGAAAGTTGGGGAGAGGGAAAAACAAGATAATTAATTGTCCATTAACAATGCACTTGGTAAAACAACACCCTAACAATCAAAGCCATGACATTGTGGTACAAAGATGAAAACTGCACAAGTAGCATGCATTTCCCAAGGTCCTTCTCTTAATAAAGGCTAATCCAGATGTTAGCATACTTCTACTTTTCAGGAATGTTGTGAAAAACGCACCACTGTGTGCTTAGCTAGCTCCACGTCTGCATGACGCAGACGATCATGACTGGAAGGAAGGGCGCTGACATACTGGCCATGGTGGAGTCCTGCAGAAGCTGGTGTGTCTCTCGTAATGTGGTGTTGACCCTGGACAGGCTGGCAGATGTGTTCAGCAGCTCCTGGCTCAGCCCCGCCACGTCCCTCAGCGTGCTCACCGCGCTCTGGCTTGCAGACGTGGCCAGCTCTTTGGTTTTGGCTCCCTTGTCTCTTATACCTAAAATAAATGTATATAAAAGCATGCACTTCTGGTGCTTACACACAGAGAAAAGAATAAAACGACAACAAATGTAATTTCGCACAGAAATATATTATTGTCATATTACTGATGCTGAACACAAACTGAGGCTTGTCTGTTTGCTTTTTTTTCTTTTGGGCAGTGGTCAATGAACTAAGAGCTTCTTGTTTCTAATGGCAATATTAAAGCTGCATATCATATGCTCTACTATCCCCTTTTAGGGACAAATGAAATAATTTTTGTTAATACTTCTCTGGAATATGATTTCAATAAACAATGAGATCACAAAAGTAATGGCCAATCGCTGTGTGAGCTGTGTCTTACATCTTAATAAGCTGAACTTCTTTATTTGGGTCCTTTTCCATCACTCCTTTCTCAGCTTCATGAAACATGTCCTCCACCTCCTTTCATGTCTGGATAATAAGGATTTGGATCCTAGGTCTGCAGCTAAGGTGGGAATGTCTTAAGTTAAAGGAAGAGGTATTTGCCCATAGCATCAACTGGCTGCTAGAAGTAACAGCAGAATAAAGCCCAAACAGCCACTCAAGGTAAATTGGAATTCAGTTATTCTAGAAAATCTGGGTGAGGATTTTTAAAAGACACTATCATTCATTTTCGAAGCATTTAATCACAAGTGGGGCAAAACATTTACAGCAGAAAAAGCTGGAAAAAGGGTATACAGGTGGCCTTTTTACTTTTCCTGAAACTTTTCTGTAGGCTCGAAATTATTTTCAAATAAAAACGTTATTAAGCATTTAGTCAAAATATACCATGGCATCCTTATAAAAAAAGAAAAGGAAAAAAAAAATCTTCCGGATCAGAAAATGCTCCATTGTTTCAAAGTAAGAAGTAAGCCCAATGCAGCATGCCCAGTTTCCCCAGGTAACTTCCATGCTTACAAACAGGACTTTGGGGCTTCCTGTTTTTAATGGCTTTAAAGCACTTTATAAGACTTTTTCAAAAGATGCTTATTAAGAAAAAAAGGAGGACAGGCACAGTGGCTCACACTTGTAATCCCAGAACTTTGGGAGACCAAGGCAAGAGGGTCGCTTGAGGCCAAGAGTTCAAGGCCAATCTGGGCAACATAGCAAGACACGGTCTCTATAAAACAATTGAAATTTTCAAAGTAAAAAACAACAAAAGAACAAAAGAGAAGTTTGAGGTGCAGCACGATTCATTTGTATTACACATAAAAAAATTATCCTATTTAAAACTTTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGGACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGA | CTTCAGAAACGCCACTTTCCTTCTCACAGGCATTCCATTTGGTAGTTTGTTCATTTTTCATCTAATGCTACCATTTTAACAAAGGTTAGTCCCTATGGGAGATTTAGAGATTTCACTAAGGCCTATTTTTTTTTCGTCAAATAAGTGAAAATTCAGAAAAATCTAGAAGTGCATAAAAGATTCAGTGTCGCTTTCCAAAGGTCCATAACTTACAGCGGTGCTGCTACCGAGGTAGAAGAGAAGATTATCGGGTTCCTGTGTCTTAACATTTAGTGTTAAGGTATTGTAGTTGGTAGAGGAAATCTGAGGCTGGTAGGCCCGGATGCAATCTCTGTCTGCAGACACGGCGACTTTAATCTGTAGAAGGAAAATGAAAGTGTCCCCATCATTTAGTGACACACACCGGCAGCTCACCAGCAGCTCAACAATGCTATTCTGTAATGAATTTTCACTGAGGCAGGTTTCCTCTCTTGATAACATACAATGGTTCATGTTTCATGAAGTGACATATCAGATGGTAACAAAAATGATTTCATTAAGTGTTTAAATATGAGAAAATCAGTGTTAGTTTTTAATAAGTTATTTTATATAGGAAACTGTCTTGCTCATATAAGATTTAATTCCTTAAAGACAAGGATCTTATCACCTTGGAATCTTTCCGCCTGACACAAAGAAAGAGGGTATTTGATAATCATCTGTTGAATAAATGGAGAGGTAATATATTTATTCACTCAGCAGATATTTATAGAGCAATTATTGCACTTACTACATATTTCTTTGACTAGTAATTCGTTGCATATGTATCTTACATTAAAGAGTCTAAGTTTGGTATTAACCTAGCATCAAGAAGCATTCCTTGGGCTTATATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCATAGCTCACTGCAGCCTTGAACTCCTAGGCTTGAGCAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTTCACACCACCAAGCCTGGTTATTATTATTATTTTTTTTAGTAGAGACAGGATCTTATTATGTTTCCTAAGCTCATCTCAAACTCCCGGCCTCAAGCAATCCTCCCACCTCAACCTCCCAAATTGTGGGAGTTACGGGTGTGAGCTACCAGGCCCAGCCTGTATTTATTTAGCAATTGTAACTGAAACAGATGCAAGCCAGAGCTCATGGAAACCAACATTCCTTTTCCAATAGCAAGGACACTTGAGGTTTTGGAAAAGACAGAGCCCTGTGCTCCTTTCTCTTCCCTAGAAAGCCTCAGGTGGACAAATGCAAGCCCAGAGGCTGCATTCATCCTCTCGAAGTCCCCAATCACATGACGACTGCACATTCTCTCAAAAGGAAACTTTTTCCCTTAGGGCACAGCCAGTGCCATGTGCCATGGGTAAAACATCTTCTCATGTGTGAACTGCTCCAGGTGTCCAGTGCCTCAGGCATTTAGTGACCTGGATTTGTGCAGCCTTCGTTGCATACAAACTGTTTTCTCAGACACCTCAAGGATGAGGCCCATACTACACAAACATTTTAAGGAATACTTGGATTATTAAAACTAAGTTGGTAAAACGAAGAACTAACACCACATGCAACCCATAAACTTAAGAGTGATGTTAACACGTAGATTTGACATGTTCCGCACTGTCCAGGCTAATAGTTTTAAATTTAGTCTATAATGATAAATCTCCATAAAGACATGGAAATCTCTTTGCTAACAACATTTTGAAGCATGTTGAACAAAAGCAGAACTCAAAGAAAATGAAGCTAGTTATTGGCTTTAAATATACCAAGACAGGGCTATGAGGAAGCCCAGATTATTGGGATCTGGGTCTTTGGAAGCCCTAAGGGGCGCAGTGTGACTGAGGGCCATGTCTGCATGAATTCCCTGGGACCCCACATGACTGAGAGCCCAGTTACGAAAGCCACGGGGCCCCAAACTCACAGAAGCTGCTTGTTTGCGGGCCTGGCTGATCAACAGTTTAATTTCTATAGGTTTCTGCTCAGATTCTCCTCTAACATCTTCAAAGGCTTCAACCGATCAAACAAAAGGTTGGCTTGAATTTCCACGTCTTTGACTTTTCTTCCAGCCAACAGAGCTAACAAATACAAGAAGGCAAGGGGTGGCAAGAAAGTTGGGGAGAGGGAAAAACAAGATAATTAATTGTCCATTAACAATGCACTTGGTAAAACAACACCCTAACAATCAAAGCCATGACATTGTGGTACAAAGATGAAAACTGCACAAGTAGCATGCATTTCCCAAGGTCCTTCTCTTAATAAAGGCTAATCCAGATGTTAGCATACTTCTACTTTTCAGGAATGTTGTGAAAAACGCACCACTGTGTGCTTAGCTAGCTCCACGTCTGCATGACGCAGACGATCATGACTGGAAGGAAGGGCGCTGACATACTGGCCATGGTGGAGTCCTGCAGAAGCTGGTGTGTCTCTCGTAATGTGGTGTTGACCCTGGACAGGCTGGCAGATGTGTTCAGCAGCTCCTGGCTCAGCCCCGCCACGTCCCTCAGCGTGCTCACCGCGCTCTGGCTTGCAGACGTGGCCAGCTCTTTGGTTTTGGCTCCCTTGTCTCTTATACCTAAAATAAATGTATATAAAAGCATGCACTTCTGGTGCTTACACACAGAGAAAAGAATAAAACGACAACAAATGTAATTTCGCACAGAAATATATTATTGTCATATTACTGATGCTGAACACAAACTGAGGCTTGTCTGTTTGCTTTTTTTTCTTTTGGGCAGTGGTCAATGAACTAAGAGCTTCTTGTTTCTAATGGCAATATTAAAGCTGCATATCATATGCTCTACTATCCCCTTTTAGGGACAAATGAAATAATTTTTGTTAATACTTCTCTGGAATATGATTTCAATAAACAATGAGATCACAAAAGTAATGGCCAATCGCTGTGTGAGCTGTGTCTTACATCTTAATAAGCTGAACTTCTTTATTTGGGTCCTTTTCCATCACTCCTTTCTCAGCTTCATGAAACATGTCCTCCACCTCCTTTCATGTCTGGATAATAAGGATTTGGATCCTAGGTCTGCAGCTAAGGTGGGAATGTCTTAAGTTAAAGGAAGAGGTATTTGCCCATAGCATCAACTGGCTGCTAGAAGTAACAGCAGAATAAAGCCCAAACAGCCACTCAAGGTAAATTGGAATTCAGTTATTCTAGAAAATCTGGGTGAGGATTTTTAAAAGACACTATCATTCATTTTCGAAGCATTTAATCACAAGTGGGGCAAAACATTTACAGCAGAAAAAGCTGGAAAAAGGGTATACAGGTGGCCTTTTTACTTTTCCTGAAACTTTTCTGTAGGCTCGAAATTATTTTCAAATAAAAACGTTATTAAGCATTTAGTCAAAATATACCATGGCATCCTTATAAAAAAAGAAAAGGAAAAAAAAAATCTTCCGGATCAGAAAATGCTCCATTGTTTCAAAGTAAGAAGTAAGCCCAATGCAGCATGCCCAGTTTCCCCAGGTAACTTCCATGCTTACAAACAGGACTTTGGGGCTTCCTGTTTTTAATGGCTTTAAAGCACTTTATAAGACTTTTTCAAAAGATGCTTATTAAGAAAAAAAGGAGGACAGGCACAGTGGCTCACACTTGTAATCCCAGAACTTTGGGAGACCAAGGCAAGAGGGTCGCTTGAGGCCAAGAGTTCAAGGCCAATCTGGGCAACATAGCAAGACACGGTCTCTATAAAACAATTGAAATTTTCAAAGTAAAAAACAACAAAAGAACAAAAGAGAAGTTTGAGGTGCAGCACGATTCATTTGTATTACACATAAAAAAATTATCCTATTTAAAACTTTAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGGACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAN | pathogenic | 287,357 |
Variant at chromosome 18, position 6997871, gene LAMA1 (laminin subunit alpha 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | AAGAAAGACTTTATAAATACTAAAAATAAAGAAAAATAAAGTGCTTAATTTATGCCAACAGCCTTCTAATTTCTTGTATAATTTTATTTCAACCTTAAAACTTGATGAATACTTTACATAAACACAAAAAGTTATTTAAAGAAAACGGACAAGTGGTTTATTTAGAGCAAATCATTCAAAATGAGTTAAAATTTAAATCAAATATTTGTCTTATTTGATATATATAAAATAGTTATATCCCTGGGACCAAGACTGGCAGATATTATACTGATCGTGTATATAGTGATTGGAAAAAAAAGTTAAATATTCTTTTTTTTATAGAGGTAAAAGCTCTCATTTTTCAAAAACACTTTGTGACGTTTGAGGAAAGTATAACATAAAAACATCTCTTAGAGGTCCCTAACCTTTCTGAACTACCATTATAGAGAAAAGACCACTGCAAATCAAGACGGATTCAAGAACCAGCCCCATCCCAGCGCACACATAAACACACGCACACACCTAAGGAAGTCCTAAGTTTGAGGAAAACTCTTATCTAAGAAAAGGCATTTAGGAATGGCCATCCCTTTTATTGCTACCTGGTGCACTGCATAGATTATGTCAAATTCTAACGCATATATAAAGCAAAATTTAAGAATCACACTGTTTTCCAATTAGAATTAAAAGTAGGTCGGGCGTGGTAGCTCATGCCTATAATCCCAGAAATTTGAGAGGTCAAGGTGGGAGGTTCTCTTGAGCTTAGGAGTTCAAGACCAGCCTGCACAACATAGTGAGAGCTCATCTCTATTAAAAATAAAAATAAAAGAACTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGGCAGGAGGATCCCTTGAGCTATGGAGGTTAAGGCTGCAGTGGGCCATGACTGCGCCACTGCATGCCAACCTGGGTGACTGAGGGAGACCCTGTCTCAAAAAAATAATAAAATAAATAAATAAGATAATAAAAATAAATAAGTGCTATAGTAGGATGCTGTCTACTAAGTTAATTTCTTAACTCCTCACCCTTTTTTGACCCAGGCTCTGTTGATGAAAACATAAAACTATGATTTACTGCCAGACATTTAATGTAGCCTTCCAGGGAGGAGAGATTTTGTGCCCTGCAACTTTAGTGCAGTGAAGAATAATACACTTTAAAAATAATATACCTTAAAGAAGATACTGTTCAGATTTATTTTCTGCTTTTCTTCTCTTTTTCTTTTTCTTTTTCTTTTTCTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCACGCGCCACCACATCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCCCCCAAAGTGCTGGGATGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTATTTTCTGCTTTTCTAATAGGGCAGCTGTTTGCAAATACCCAAAGTTGTCTTACAGAAGAGCAAGTGGACTTGGCCTTATCCCAAAAGGCAGAATGAGGGCCACAGAGGGCAGCATTGATGAGGAGTCCTCCAGAGAGCACTGAAATGATGAGAGCTGTCCCACCGTGAAACAAGCTAGCGTGTGAGATAAGTAAGTAAGTGCCTGTCACTGGTCACAGTCAAGGAAAGACTGGACACCTGCCCGCAGGGGCTGATGGAAGTTGGGCTCTCACAATGTGGGGAGGACACATGGAATGACTCCCACCATTCCCAATGACTATATCCCTTAATGATACAAGTGTCTGTTCATCTCTGTATTTCCAGTACCTACCTGGAGATATTTAGTTGTATTTTCCAGGTTTGACAAAATTCCATATGGGACAGGGATAATGCCAGTGAGGTTCAGAGAAAGAACGGCATCACCAATCTCATCCAAGTCATTCAGCAGCACACCTACACACTCATCATCACAGGCTACAAGACAAATTTTTAAAAAGGAGAGTTAAAGTTAATGCGATGTGGTCTGCCCATTTTTTCATGGAGTTGCGCAAGTTGTTTTGTGAAAATGACACATGCGGTCAGAGTACACTCCAAGACCCCGTGCACCACATCTGATCTCATTCTCACTCCAACTGTGCCATGGGTGGCACGGCAGGAAGTGCTAGGCCCCTATTCAATGATGACGCCAAGACTCAGATCAGATAAGTAACTTCCCAGAGGTCACACAGAAAGAAACAGCTGAGGCCAAGAGTGGCGCCCAGTAAGCAAAAGGGTCTTTGCTTACTAAGTGATAAGGTGGTAAGAGAGTTGAAACAACTATGAGCAAGCATGAAAAACAGCAGGGGGAAGAGGGGTGAACACACGCTGACGAAAAGAACTTTATTGACTGTAATGAAAGGCGAGGAAGGCAAGCCAGGGAAGCAAAGGCAAGGAAGTAAGGCAGAACTGGAGAACGGATGCACCTAAAGACAGGCAGGGAGTTATGGCACACATTTCATTCTTCTGCCCCCATCTTTATGCTGCCTGGCTCATCTTTAACTAGGACCCACTGCACTGAATCCCAGCATTCCCTTCCACAGCCTGCTCTGTCACCTCCTCAGGCAGTTTGCAAATGCATCTTTCACAAGTACAAGTGAAGGACACTGGAGAGAATAGTGGGGGTGTTTGTGCTTATAACCCACACAAAAGTCAAAGCAAAAAAGACCTCCAATGCCATGGTCCTAACAGGCCTCCCTATCTTCCCCATTAACCCCTGAGAAGACATCCCAAGCTGACTATCTCATGCACTTGCTGGTAGAATAAATCAGAACTGGAAAAAAAGTTTACAAAAGCCCACGACAGGCCGGGCATGGTGGTTCATGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGCAGGCGGATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCAAGGTGGTGGACACCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGAGGAATCACTTGAGTCCAGGAGGCGGAGGTTGCAATAAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGGGACAGAGCAAGACTCCATTTTTTTGTTTTTGTTTTTTTTTTAAGTCCATGATAGTCACGAGTGGAAGCTATCATGAAATTGGGGTAACACAAATGACAACCCCACAAAGCTGTTTCCTCTCCTGCACTAAATCACTCCTGGCTCCACTAAAGGAAATATTAATGCCACTAAAGGAGAAAGTTGAAATCACTGTGCTGCTCTGAGTGCCAGAGGAATAAACTGCTATCTTAGAACCTCCTGCCTCAGCTGGAAAACACATGATGAAAGGTTCAGTTCAGCAGATGCAACAGTGATCTATGCTTAGAAAATAAGAAAATGAAAATAAAATAGGATGTTTTTATTCTGCAGACACTTTAGCGTGCCGTCACCACTTCTTTCCCGACACATTTGGGAGGAAAAACCATCTTTACACATTTAGAGGAGAAATACTCACAAACACAATCTGTTTCCATCAGAATGTGCCTCGGTTCACACTCATCGCACCGGAGCCCCGAGGCCCCCAGCCTGCAAACGCACTGCCCAGATGTGCGGTCACAGTCACCGTGGACAGAGCCGTGCGGGTTGCAGTCACACTTCTGGCAACTGCCACCTGGTGTTTGAGGGTTCCCATAATAGCTTGAGGAGCACCTACAGAAAGGAAGGGACATAGGTGCAGACAGGATGGTCAATACCAGCTTCTAACTTGCGACAGTAATCATTTCCGCCAAATGAAATGCAAAGCACAGATCCATTCACCTTGGGAAAACTTGTTCTGGAACAGTAATGAGGTCTTATTTCAATCAAGCACATCCAAACTGATAATTGATAATGGCTCCCAGATTACTATAGTAAATATGCCCAATACCTTATAAAAGAAACAGAGTGCCCAGGGATTTCCACATGACAATCCACCCATGTACCTTTCACA | AAGAAAGACTTTATAAATACTAAAAATAAAGAAAAATAAAGTGCTTAATTTATGCCAACAGCCTTCTAATTTCTTGTATAATTTTATTTCAACCTTAAAACTTGATGAATACTTTACATAAACACAAAAAGTTATTTAAAGAAAACGGACAAGTGGTTTATTTAGAGCAAATCATTCAAAATGAGTTAAAATTTAAATCAAATATTTGTCTTATTTGATATATATAAAATAGTTATATCCCTGGGACCAAGACTGGCAGATATTATACTGATCGTGTATATAGTGATTGGAAAAAAAAGTTAAATATTCTTTTTTTTATAGAGGTAAAAGCTCTCATTTTTCAAAAACACTTTGTGACGTTTGAGGAAAGTATAACATAAAAACATCTCTTAGAGGTCCCTAACCTTTCTGAACTACCATTATAGAGAAAAGACCACTGCAAATCAAGACGGATTCAAGAACCAGCCCCATCCCAGCGCACACATAAACACACGCACACACCTAAGGAAGTCCTAAGTTTGAGGAAAACTCTTATCTAAGAAAAGGCATTTAGGAATGGCCATCCCTTTTATTGCTACCTGGTGCACTGCATAGATTATGTCAAATTCTAACGCATATATAAAGCAAAATTTAAGAATCACACTGTTTTCCAATTAGAATTAAAAGTAGGTCGGGCGTGGTAGCTCATGCCTATAATCCCAGAAATTTGAGAGGTCAAGGTGGGAGGTTCTCTTGAGCTTAGGAGTTCAAGACCAGCCTGCACAACATAGTGAGAGCTCATCTCTATTAAAAATAAAAATAAAAGAACTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGGCAGGAGGATCCCTTGAGCTATGGAGGTTAAGGCTGCAGTGGGCCATGACTGCGCCACTGCATGCCAACCTGGGTGACTGAGGGAGACCCTGTCTCAAAAAAATAATAAAATAAATAAATAAGATAATAAAAATAAATAAGTGCTATAGTAGGATGCTGTCTACTAAGTTAATTTCTTAACTCCTCACCCTTTTTTGACCCAGGCTCTGTTGATGAAAACATAAAACTATGATTTACTGCCAGACATTTAATGTAGCCTTCCAGGGAGGAGAGATTTTGTGCCCTGCAACTTTAGTGCAGTGAAGAATAATACACTTTAAAAATAATATACCTTAAAGAAGATACTGTTCAGATTTATTTTCTGCTTTTCTTCTCTTTTTCTTTTTCTTTTTCTTTTTCTGAGATGGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGACTACAGGCACGCGCCACCACATCCAGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTCACCACGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCACCCGCCTTGGCCCCCCAAAGTGCTGGGATGCTGGGATTACAGGTGTGAGCCACCGTGCCTGGCCTATTTTCTGCTTTTCTAATAGGGCAGCTGTTTGCAAATACCCAAAGTTGTCTTACAGAAGAGCAAGTGGACTTGGCCTTATCCCAAAAGGCAGAATGAGGGCCACAGAGGGCAGCATTGATGAGGAGTCCTCCAGAGAGCACTGAAATGATGAGAGCTGTCCCACCGTGAAACAAGCTAGCGTGTGAGATAAGTAAGTAAGTGCCTGTCACTGGTCACAGTCAAGGAAAGACTGGACACCTGCCCGCAGGGGCTGATGGAAGTTGGGCTCTCACAATGTGGGGAGGACACATGGAATGACTCCCACCATTCCCAATGACTATATCCCTTAATGATACAAGTGTCTGTTCATCTCTGTATTTCCAGTACCTACCTGGAGATATTTAGTTGTATTTTCCAGGTTTGACAAAATTCCATATGGGACAGGGATAATGCCAGTGAGGTTCAGAGAAAGAACGGCATCACCAATCTCATCCAAGTCATTCAGCAGCACACCTACACACCATCATCACAGGCTACAAGACAAATTTTTAAAAAGGAGAGTTAAAGTTAATGCGATGTGGTCTGCCCATTTTTTCATGGAGTTGCGCAAGTTGTTTTGTGAAAATGACACATGCGGTCAGAGTACACTCCAAGACCCCGTGCACCACATCTGATCTCATTCTCACTCCAACTGTGCCATGGGTGGCACGGCAGGAAGTGCTAGGCCCCTATTCAATGATGACGCCAAGACTCAGATCAGATAAGTAACTTCCCAGAGGTCACACAGAAAGAAACAGCTGAGGCCAAGAGTGGCGCCCAGTAAGCAAAAGGGTCTTTGCTTACTAAGTGATAAGGTGGTAAGAGAGTTGAAACAACTATGAGCAAGCATGAAAAACAGCAGGGGGAAGAGGGGTGAACACACGCTGACGAAAAGAACTTTATTGACTGTAATGAAAGGCGAGGAAGGCAAGCCAGGGAAGCAAAGGCAAGGAAGTAAGGCAGAACTGGAGAACGGATGCACCTAAAGACAGGCAGGGAGTTATGGCACACATTTCATTCTTCTGCCCCCATCTTTATGCTGCCTGGCTCATCTTTAACTAGGACCCACTGCACTGAATCCCAGCATTCCCTTCCACAGCCTGCTCTGTCACCTCCTCAGGCAGTTTGCAAATGCATCTTTCACAAGTACAAGTGAAGGACACTGGAGAGAATAGTGGGGGTGTTTGTGCTTATAACCCACACAAAAGTCAAAGCAAAAAAGACCTCCAATGCCATGGTCCTAACAGGCCTCCCTATCTTCCCCATTAACCCCTGAGAAGACATCCCAAGCTGACTATCTCATGCACTTGCTGGTAGAATAAATCAGAACTGGAAAAAAAGTTTACAAAAGCCCACGACAGGCCGGGCATGGTGGTTCATGCCTGTAATCCCAGAATTTTGGGAGGCCAAGGCAGGCGGATTGCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCAAGGTGGTGGACACCTGTGATCCCAGCTACTCGGGAGGCTGAGGCAGAGGAATCACTTGAGTCCAGGAGGCGGAGGTTGCAATAAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGGGACAGAGCAAGACTCCATTTTTTTGTTTTTGTTTTTTTTTTAAGTCCATGATAGTCACGAGTGGAAGCTATCATGAAATTGGGGTAACACAAATGACAACCCCACAAAGCTGTTTCCTCTCCTGCACTAAATCACTCCTGGCTCCACTAAAGGAAATATTAATGCCACTAAAGGAGAAAGTTGAAATCACTGTGCTGCTCTGAGTGCCAGAGGAATAAACTGCTATCTTAGAACCTCCTGCCTCAGCTGGAAAACACATGATGAAAGGTTCAGTTCAGCAGATGCAACAGTGATCTATGCTTAGAAAATAAGAAAATGAAAATAAAATAGGATGTTTTTATTCTGCAGACACTTTAGCGTGCCGTCACCACTTCTTTCCCGACACATTTGGGAGGAAAAACCATCTTTACACATTTAGAGGAGAAATACTCACAAACACAATCTGTTTCCATCAGAATGTGCCTCGGTTCACACTCATCGCACCGGAGCCCCGAGGCCCCCAGCCTGCAAACGCACTGCCCAGATGTGCGGTCACAGTCACCGTGGACAGAGCCGTGCGGGTTGCAGTCACACTTCTGGCAACTGCCACCTGGTGTTTGAGGGTTCCCATAATAGCTTGAGGAGCACCTACAGAAAGGAAGGGACATAGGTGCAGACAGGATGGTCAATACCAGCTTCTAACTTGCGACAGTAATCATTTCCGCCAAATGAAATGCAAAGCACAGATCCATTCACCTTGGGAAAACTTGTTCTGGAACAGTAATGAGGTCTTATTTCAATCAAGCACATCCAAACTGATAATTGATAATGGCTCCCAGATTACTATAGTAAATATGCCCAATACCTTATAAAAGAAACAGAGTGCCCAGGGATTTCCACATGACAATCCACCCATGTACCTTTCACAN | pathogenic | 287,390 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 18, position 7008535, gene LAMA1 (laminin subunit alpha 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | AGTTCTCATCTATTTTGACTACGGCAACCAGTACTGCAATTAAAAACAAGGCATGCAACTACAGTCATCCATCACTTAAAGATGGGGATACTGCCTGAGAAATGCATCCCTAGCTGATTTCGTCACGGTGTGAACGTCATAGAGTGCACTTATACAAACCTAGATGGCACAGCCTACTACACGCCTAGGCCATATGGTAGAGCCTATTGCTCCTGGGCCACAAACCTGTCCAGCATGTTACCGTACTGAATACTGTAGGCAGTTGCAACACAACAGGAAATATTTGTGCATCTAACTATAACTAACATAGAAAAGGTACAGTAAAAACACAGTATTATAGTCTTATCAGACCACTGTCCTATATGTGATCTGTTGTTGATGAAAATGTCATTATTTGGTGCACGACTATAATTCCCAAATTGATGCCCACAGATAAATTCATCAAGAAAGGAAAATTTATAAAAGAATTTCCACTGATAAGGTCAGAACCACTAAGCTATGCCGTCCTCAAGGAAATAGGTTTATATTTTATATTTAGCTAAATTTAACCTCTCACTAAACCAAGGCACGGCTATGACTTAGACCGGAAATCTGACACTCAGCGTCCACTTTACTTCTAAACTCAGGCAAGCACCCCCACAAACCAGCATACCAGACACTTCCCGGTGTTGGGGTCACAGGTGTCACTGTGGTTGTTGCAACTGCAGGGAACACAAGGAGCAACCAGAGGGCGTGGTCCCCTGTCACTCCCTGCTGGGAGCTTCCCTCTGTGGTACCCAGGGGCGCAGTCCTGAGGGGGTGCAAAAGGGAGGACAAAAAAGTCTGATTAATGAGTGAGTGAAGGACTTGAATAGACACTTCTCCAAAGGAGACATACAAATGGCCAACAGGTATGTGAAAAGAAGTTCGACATCTCTATCAGAGAAATGCAAATGAAAAAACACAAGGTGATGCCACCGCACACCTGTTAGGGTATCAACTATCAAAAAAAAAAAAAAAACTAACAAGTATTGGTGAGAAACTGGACCTTGTATACTGCTGGTGAGAATGGAAAATGGCACAGGAAAAACCAGTAGCTATACCATTTCCATCCCTCCAAAGATGGAAAATACAAGTACCATATGATTCTGCAAGTCCACTTTTGGGTACACAACCAAAAGAACTGGAAGCAGAATCTCAAAGAGATATTTGAACCCCTATGTTCATAGCGGCATTATTCACAATAGCCAAGATGGGGAAGCCACCCAAGTTTATTCACTGACAGATTAACGAATAAGCAAAATGTGGCATGTATGTACAATGGAATATTATTCAGCCTTAAAAAGGAGGGAAATTCTGACACATGCTACAACATGGATGAGCCTTGAGGACATTATGCTAAGTGAAACAAGCCATTCGCAAAAAGACAAGTTCTGTATTACTCCACTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTATCTCTCTGTCACTCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAGCCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCATGCATATATATATATCATATAAGAGGGCCATAGAGTGGTCAAATACATAGAGACCAAAAGGAGAATGGTGGTTTTGGGGCACTGGGGAGAGAGGAAATGGGGAGCTAGTGTTTAATGAGTGCAGAGTTTGCGTTTCGGATGATAAAAAGTTCTGAGGATGATAGTGGTGACAGTTGTACAACAACGTGACTGTACTTAACACAACTAAACTGTACCCTGAAGAATGGTTAAGATGGAAGATTTTGTTATGTACATTTTACCAAAATTAATTTCTTTTTAATTCAAAAAGAGAAAAAAATGATATAGTAGATACACATAAGTTCTGTTCATCTCTGGGAGTTGCTGTAACAAGCACATTTCAACTCAAACCCAGGAAATAGATTTCGACTAGAGTCTCCGTACCTGACATGAGAATCCCACAGTGCCAGGAGGACAGACACAATTCTCTAAAAGAGATGCAACCTCTTCTTCTGGGTGCAGCTTTTCAGCCTTTCTGCCAACCTCCATTGAAATGTCTGAGATTCTGTGCAGCCATCATGTTAAGAGAGGAAACGCTAACATTTGAAAAACTTTCTAGAAACATAGCACATGACCTAACACTTGCATATATATGAAACCAGAGCTTTCTTCCCTGTTTGGAGTAGTTCCTGCTTGTGATTGTAAGTGAAGTGTGTTAAAGCACATTACTAACTGTCATGACACACTTTAGACATTTTAGAATTTAAAAATAATGTGACACAAGTACACCTAAAAGACCTCTTGAAGTGCTGATTTGGCCAAGACCTAATGGCTTTCTTTTTGGGCTAAAGTATGAGATGAGTAGGTGACAGCATTCTTTATACATCACTACGAAGACATGGGCATTTCAGTTTTCATGTGCAGAAACAGCAATTGTTTTTTTTGCATTTTATCTTCAGCTAAGATTCCAACATTATGTCCTTATATTTTATATCGACATTAGCATGCTAGGTGGATACTTTAAGTTATAATTCGCACATTCCATAATGATATTAATATTTAACAATGTTTTGGTAAGGAACTGAACTACATGGATTAATAAAAATAGTAGGTAATGGAAGTGAAGTGAGTCAAATTCTTTCAGTTTGCTTTCAAATATGAAAATAACGGTCAAAATTCTAGAAGCTCCAAGTACCTGCTCTGCTGTAATCCTTGACCATACGATGCCTTGATGAGGATGTACTCAATATCGCTGAGGACAGACATAAAATCCTCTCGCGTGACAGGTTTTTCAGAAACAGAGTTAAAATATTTCCAAAAATTCTGTAGAATGAGAAACACATTCAATTAAGCTCAGAGGCCAAATTCTGACAGGCATAAAACTTATAAAGAATAAATTCTTTTATAAATTTCTCCAGAAATGAGCCATGTTCTGTGCATGCCACTGAGTGTAACTGACAAAGACCTCCTGAAACCTCCATGGACAGGCGCAGTGTCAGTTCCATTATCAATAGATATGCATTACCTAAGGCAGTGCCAGCCACACAGCAAACATCCAGTAAACATCTGCTGGAAGAATAAACACTTCCCAAATCTGAGCAAGTCCAAAGTCTCCTGTACCACTATCTCTATGCAGGTTGAAAATAGTACGCCAAGATAAAGAATTTAAGATGCAGTGCCCACTAAATTGACATAAAACTAATATACATTTCTTGAGAATTTGAAATTCAAACTGTTTTTGGAGATCTTGCTAATCTCACTGGAATTTTGATCCCAGGGTCTTCTTGCTCGGTCTCTCTGTCGCACAAGCTGGAGTACAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGATTCATCATGTTGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCTCAAAGTGGTGGGATTACAGGTGTGAGCCACCGTACCTGGCTGCTCATTCTCTTATTAATGGCTTTCATCTTTCACTACATCCATAGCAAAGTCAATGTCTTTAAGGAACTTCTATGAAAAGATCCCATTATCACCTCTCTCATTGCTACTTCTTGTTCCTGTCTCACTCCATTCTCTGGGGCTGGTGCATCCATGTAAATGACTTGCTTTCTGATCCGACCACCTTTGATGAGAACTTGAGGCTCAAAATTGGAGGTGCCGACGCCATCCAAAGAATAGAAGGCCACGCTGTACTTCAGTTTGCCACCATAGGCCATGAGCTATCAAATAATAAAGTGTTGTTTACTTCTCTGACAAAGCTTTCATTCAAAAACATTTTATTGCAAGACTGCCACCATAAGAGAGAAATCTTGTATCTTAAAAATACATCACATGGGTGAAATTTGTTGTCTGGAATTTGCTTCCTTCTAATTCCATTTAATTATGGATTATTAAGTTGACCTAAGTTATATAGTTC | AGTTCTCATCTATTTTGACTACGGCAACCAGTACTGCAATTAAAAACAAGGCATGCAACTACAGTCATCCATCACTTAAAGATGGGGATACTGCCTGAGAAATGCATCCCTAGCTGATTTCGTCACGGTGTGAACGTCATAGAGTGCACTTATACAAACCTAGATGGCACAGCCTACTACACGCCTAGGCCATATGGTAGAGCCTATTGCTCCTGGGCCACAAACCTGTCCAGCATGTTACCGTACTGAATACTGTAGGCAGTTGCAACACAACAGGAAATATTTGTGCATCTAACTATAACTAACATAGAAAAGGTACAGTAAAAACACAGTATTATAGTCTTATCAGACCACTGTCCTATATGTGATCTGTTGTTGATGAAAATGTCATTATTTGGTGCACGACTATAATTCCCAAATTGATGCCCACAGATAAATTCATCAAGAAAGGAAAATTTATAAAAGAATTTCCACTGATAAGGTCAGAACCACTAAGCTATGCCGTCCTCAAGGAAATAGGTTTATATTTTATATTTAGCTAAATTTAACCTCTCACTAAACCAAGGCACGGCTATGACTTAGACCGGAAATCTGACACTCAGCGTCCACTTTACTTCTAAACTCAGGCAAGCACCCCCACAAACCAGCATACCAGACACTTCCCGGTGTTGGGGTCACAGGTGTCACTGTGGTTGTTGCAACTGCAGGGAACACAAGGAGCAACCAGAGGGCGTGGTCCCCTGTCACTCCCTGCTGGGAGCTTCCCTCTGTGGTACCCAGGGGCGCAGTCCTGAGGGGGTGCAAAAGGGAGGACAAAAAAGTCTGATTAATGAGTGAGTGAAGGACTTGAATAGACACTTCTCCAAAGGAGACATACAAATGGCCAACAGGTATGTGAAAAGAAGTTCGACATCTCTATCAGAGAAATGCAAATGAAAAAACACAAGGTGATGCCACCGCACACCTGTTAGGGTATCAACTATCAAAAAAAAAAAAAAAACTAACAAGTATTGGTGAGAAACTGGACCTTGTATACTGCTGGTGAGAATGGAAAATGGCACAGGAAAAACCAGTAGCTATACCATTTCCATCCCTCCAAAGATGGAAAATACAAGTACCATATGATTCTGCAAGTCCACTTTTGGGTACACAACCAAAAGAACTGGAAGCAGAATCTCAAAGAGATATTTGAACCCCTATGTTCATAGCGGCATTATTCACAATAGCCAAGATGGGGAAGCCACCCAAGTTTATTCACTGACAGATTAACGAATAAGCAAAATGTGGCATGTATGTACAATGGAATATTATTCAGCCTTAAAAAGGAGGGAAATTCTGACACATGCTACAACATGGATGAGCCTTGAGGACATTATGCTAAGTGAAACAAGCCATTCGCAAAAAGACAAGTTCTGTATTACTCCACTTTTATTTATTTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTATCTCTCTGTCACTCAGGCTGGAGTGCAATGGCACGATCTCGGCTCACTGCAGCCTTCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCATGCATATATATATATCATATAAGAGGGCCATAGAGTGGTCAAATACATAGAGACCAAAAGGAGAATGGTGGTTTTGGGGCACTGGGGAGAGAGGAAATGGGGAGCTAGTGTTTAATGAGTGCAGAGTTTGCGTTTCGGATGATAAAAAGTTCTGAGGATGATAGTGGTGACAGTTGTACAACAACGTGACTGTACTTAACACAACTAAACTGTACCCTGAAGAATGGTTAAGATGGAAGATTTTGTTATGTACATTTTACCAAAATTAATTTCTTTTTAATTCAAAAAGAGAAAAAAATGATATAGTAGATACACATAAGTTCTGTTCATCTCTGGGAGTTGCTGTAACAAGCACATTTCAACTCAAACCCAGGAAATAGATTTCGACTAGAGTCTCCGTACCTGACATGAGAATCCCACAGTGCCAGGAGGACAGACACAATTCTCTATAGAAGAGATGCAACCTCTTCTTCTGGGTGCAGCTTTTCAGCCTTTCTGCCAACCTCCATTGAAATGTCTGAGATTCTGTGCAGCCATCATGTTAAGAGAGGAAACGCTAACATTTGAAAAACTTTCTAGAAACATAGCACATGACCTAACACTTGCATATATATGAAACCAGAGCTTTCTTCCCTGTTTGGAGTAGTTCCTGCTTGTGATTGTAAGTGAAGTGTGTTAAAGCACATTACTAACTGTCATGACACACTTTAGACATTTTAGAATTTAAAAATAATGTGACACAAGTACACCTAAAAGACCTCTTGAAGTGCTGATTTGGCCAAGACCTAATGGCTTTCTTTTTGGGCTAAAGTATGAGATGAGTAGGTGACAGCATTCTTTATACATCACTACGAAGACATGGGCATTTCAGTTTTCATGTGCAGAAACAGCAATTGTTTTTTTTGCATTTTATCTTCAGCTAAGATTCCAACATTATGTCCTTATATTTTATATCGACATTAGCATGCTAGGTGGATACTTTAAGTTATAATTCGCACATTCCATAATGATATTAATATTTAACAATGTTTTGGTAAGGAACTGAACTACATGGATTAATAAAAATAGTAGGTAATGGAAGTGAAGTGAGTCAAATTCTTTCAGTTTGCTTTCAAATATGAAAATAACGGTCAAAATTCTAGAAGCTCCAAGTACCTGCTCTGCTGTAATCCTTGACCATACGATGCCTTGATGAGGATGTACTCAATATCGCTGAGGACAGACATAAAATCCTCTCGCGTGACAGGTTTTTCAGAAACAGAGTTAAAATATTTCCAAAAATTCTGTAGAATGAGAAACACATTCAATTAAGCTCAGAGGCCAAATTCTGACAGGCATAAAACTTATAAAGAATAAATTCTTTTATAAATTTCTCCAGAAATGAGCCATGTTCTGTGCATGCCACTGAGTGTAACTGACAAAGACCTCCTGAAACCTCCATGGACAGGCGCAGTGTCAGTTCCATTATCAATAGATATGCATTACCTAAGGCAGTGCCAGCCACACAGCAAACATCCAGTAAACATCTGCTGGAAGAATAAACACTTCCCAAATCTGAGCAAGTCCAAAGTCTCCTGTACCACTATCTCTATGCAGGTTGAAAATAGTACGCCAAGATAAAGAATTTAAGATGCAGTGCCCACTAAATTGACATAAAACTAATATACATTTCTTGAGAATTTGAAATTCAAACTGTTTTTGGAGATCTTGCTAATCTCACTGGAATTTTGATCCCAGGGTCTTCTTGCTCGGTCTCTCTGTCGCACAAGCTGGAGTACAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTATATTTTTAGTAGAGACGGGGATTCATCATGTTGGACAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCTTCTCAAAGTGGTGGGATTACAGGTGTGAGCCACCGTACCTGGCTGCTCATTCTCTTATTAATGGCTTTCATCTTTCACTACATCCATAGCAAAGTCAATGTCTTTAAGGAACTTCTATGAAAAGATCCCATTATCACCTCTCTCATTGCTACTTCTTGTTCCTGTCTCACTCCATTCTCTGGGGCTGGTGCATCCATGTAAATGACTTGCTTTCTGATCCGACCACCTTTGATGAGAACTTGAGGCTCAAAATTGGAGGTGCCGACGCCATCCAAAGAATAGAAGGCCACGCTGTACTTCAGTTTGCCACCATAGGCCATGAGCTATCAAATAATAAAGTGTTGTTTACTTCTCTGACAAAGCTTTCATTCAAAAACATTTTATTGCAAGACTGCCACCATAAGAGAGAAATCTTGTATCTTAAAAATACATCACATGGGTGAAATTTGTTGTCTGGAATTTGCTTCCTTCTAATTCCATTTAATTATGGATTATTAAGTTGACCTAAGTTATATAGT | pathogenic | 287,396 |
Clinically, how would you classify the variant at chromosome 18, position 7016544, gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Ataxia_-_intellectual_disability_-_oculomotor_apraxia_-_cerebellar_cysts_syndrome'] | CCTGTAGTCCCAGCCACTTGGGGGCCTGAAGCGGGAGGATTGCTTGAGCCCAAGAGGTCAAGGATACAGTGAGCTTTGAGGATACAGTGAGCTTTGATGGTGTCACTGCACTCCAGCCTGGGTGACAGAGTAAGATCCTGTCTCAATTAAAAAAAAAAAAAAAGTAATTTCCTCTTGTTTCCAAAACACAAACTATACCCAAATTTAACTGAAGAAGGCTACATAGAAAACTGGAGGCCTCATGGTTTGGACATAAACCCCCAATAAAGTGATTTATTACTTTCTCTTGGAAGATAGTATACATTGCACAATATTTATTAAAGGACACTCAAATATTTTTTGGATTTTCTTTTCTTTTCTTTTTTTTCTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCCCGATATCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGTCGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCATCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCACCTCGGTCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCGCACCCAGCCATTTTTTGGATTTTCTAACCATCAATGCAACAACTAGGTTCTTGAAGAAAACCTAGAATAAGGTGTCTTAAGGGTGTCCTGTCTTCCACTTTGATTCCTATCATCTGCATTAAGGTGTATTGTTTTTGTTTTTGATTTTTAAGATAGAGTCTTTCTCTGTTGTTCAGGCTGAAGTGCAGTGTTGCCATCACAGCTCACTACAGCCTTGAATCCCTAGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAGTAGCTGAGACCACAGGCGTGTGCCACCACACCAGGCTAAATTTTTTTTTAATCGTTATTTTTTGCAAAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGTCTTGAATTCCTGGCTTCAAACGATCCTCCTGCCTCAGTCTCCCAAAGTGCAGTGATTACAGGTGTGAGCCACTGTGCCTGGCCCACATTGAGTTTTTTTTTTTTTTTTAAATTCACAAAGCTATTCAACAGATTAAAGTCCAGAAAATATATAGAAGAACAGGCCTGAAACTTGCTACAGCAAAGCAACTCTCAGTTAAGCAAGAGCGTGGATGACAGTGCTCACCTGGCACCCCACCTCCGCATCGTAGCCCCAGTGCCCATCCTCACATTCTTCACACTTCACACCCTGTGTGTGAGGGGGGCAGACACACTCTCCAGTTTCTGGGTCGCAGGTATTCTGAGTGTGTGGGCAGTCACAGGCTGAAATAAAGATGAATGCTGGGTTACAGATCTGGGTGATGTCATTAAAGGGCTAAGAGCTGATGCTGTTATTTCCCTTTTATTAAGAGTCCAAGCCACTCTTCTCACTCCTAAAAGACGCCTCACAATTCCCAAGACCCCTCCATGTCTCATGGAGGTAGCCGGCCCTCCATCTCAGGAGATGCTGAGGGAAGCGGGGAAATGGGGACAGGACAGGGGAAATAGAGAAAAGAGTGAAAAAGCCCTCACTAGGTGATCACAGAGGGAGCCAATATTTACTAAGCACTTACTGCAGGCCCAATGCCATGCTGAGGACTTTATATAGAACACTTACACTAACTTCTCAATGCAGATTCTCATTAGCATCCCCATTTTACAGATGAGGAAACTGAGGCCAAGCAAAGTTAAGTAATGAATCTAAGCTCCCACAATTAGTAGGCGGCAGAGCCATGACCAAAACTTAGGCTTGTACCCTGATAGGGACCAGAAACCAGAAAAAAGGTATGAAATCCTCCAGGGAAAGAAGAGAAAAAGTAAAGGCACTTAACCAAAATTAGTTGGAAGTAGAGGGAGGGCCCAAGGAAAGCTCTGGGAATGACTACAAAGTCTCAAACAAGGAAATCAAGGCTTACGTGTACAGCTACCATCCTGGTAGGCGTAGAAGCCATGGGCACACCTGTCACACCTTTTCCCTGCCACACCTGGGACACAGTGACACTGGCCTTCATCCGTGCAGCCATCTGACACGGAGCCTGCCACGCTGCAGTTGCAGGGCCGGCAGCCATGGCCTGAGTCCAGCCCATAATAGCCATGCTGTTTCACCAAAGGGGGAGAAAGTGGAAACCAACATACGTTTTAATAAATGACTCCTCATATTAGTATGTTCCAGAACACACACAGGGTATTTCATAGAATCATAAAGTATTCATGACACCATCCCCATCCCTTTATAGCAAACATCCACTCTCTAGACAGGCACGGCACTTGTCAGCCACACTTTATGACATGGTTTGACTCTGTGTCCCCACCCAAATCTCAAATCGAATTGTAATCCCCATGTGTCAAAGGAGAGAGGTGATTTGATCATAGGGGCAGCTCCCCATGCTGTTCTGGTGATAGTGAATTCTCATGAGATCTGATGATTTTATAAGTGTTGACAGTTACTCTCTCCTGCTGCCTTGTAAAGAAGGTGCCTGCTTCCCCTTCCACCATGATTGTAAGTTTCCTGAGGCCTCCCCAACCATGCGAAACTGTGAGTCAATCAAACCTCCTTTGTTGATAAATTCCCCAGTCTTGGGTAGTATCTCTATAGCAGTGTGAGAACAAACTAATACACTTGGGGACTTAGCTCCTTCTGAGTCATGGATTCAATCGCCTCTGTACCAAGGCTAAGGTGTCAATTAGTCACATGCATCTTACCAAGCACTGGTCACACTGCTGTCCAGTCACGTTTGGTTTGCAGTCACAGAGCCCGGTCTCAAGATGGCACACGGCAGAATGGGAGCCTTTCACATGGCATTCACAGGCTAAACACATGCACACAAAGACATATTAACCCTCACTTCTGAGGATGGTTATCATAAGATCCGTCATCCCCAAAGGAAAAAAAAAATGTAAACTTTCAATGTTTCAAATCACAAAACTAAAAATAATATTATTGGCAATAACTTTAGAAGTTTAGCATTTTTCTGAAGAGTAAACTGAAACAGGGTTAGTGGAAGGATCCATCACAGGAAAAACACATTGAAGCTATTAAGACAATAATTAGCGAATTCGCTTCACCAATTTCATGACTTCCTCGACATATTTTAAATGAGCTACAAATTCCCATGAAAAACATGCAATGGAGATTTCAAAATCAACTTAGCCATTTGCCCTGATTCCAATCAGGTACATATTCAATATTTTAAAGCTCAGTTAAAACGTAATCTAAATAAGTACATATTAATATTATATTTCATAATTTAATGAAAAATATCTTTTCATTAAATATGATATCCCAGTTCTAAGTCATGAGTCATTTGTAGTTTCAGGTCAGATGGTTCCATTTTATCTACAGTTACAACATTGATGCTTAAAGCTACAAAGTTCCCTACCTTTGCAAAGTGATACAATCTTACGGGTCCAAAATATATTTAATCAATATTCACAGGGGAACCCTTAATAAGCACTTCAGTTAGAATATTTAATATGTTGGCTGTGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGAAGGCGGATCACCTGAGATCAGGCGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCGTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCTAGCCTGAGCGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAACATTTAATATGTTGCCTGACAAAATATTCCAGGTACTCTTTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTTTCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTT | CCTGTAGTCCCAGCCACTTGGGGGCCTGAAGCGGGAGGATTGCTTGAGCCCAAGAGGTCAAGGATACAGTGAGCTTTGAGGATACAGTGAGCTTTGATGGTGTCACTGCACTCCAGCCTGGGTGACAGAGTAAGATCCTGTCTCAATTAAAAAAAAAAAAAAAGTAATTTCCTCTTGTTTCCAAAACACAAACTATACCCAAATTTAACTGAAGAAGGCTACATAGAAAACTGGAGGCCTCATGGTTTGGACATAAACCCCCAATAAAGTGATTTATTACTTTCTCTTGGAAGATAGTATACATTGCACAATATTTATTAAAGGACACTCAAATATTTTTTGGATTTTCTTTTCTTTTCTTTTTTTTCTGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAATGCAGTGGCCCGATATCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGTCGTTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCATCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTTGTGATCTGCCCACCTCGGTCTCCCAAAGTGCTGGGATGACAGGCGTGAGCCACCGCACCCAGCCATTTTTTGGATTTTCTAACCATCAATGCAACAACTAGGTTCTTGAAGAAAACCTAGAATAAGGTGTCTTAAGGGTGTCCTGTCTTCCACTTTGATTCCTATCATCTGCATTAAGGTGTATTGTTTTTGTTTTTGATTTTTAAGATAGAGTCTTTCTCTGTTGTTCAGGCTGAAGTGCAGTGTTGCCATCACAGCTCACTACAGCCTTGAATCCCTAGGCTCAAGTGATCCTCCTGCCTCAGTCTCCCAAGTAGCTGAGACCACAGGCGTGTGCCACCACACCAGGCTAAATTTTTTTTTAATCGTTATTTTTTGCAAAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGTCTTGAATTCCTGGCTTCAAACGATCCTCCTGCCTCAGTCTCCCAAAGTGCAGTGATTACAGGTGTGAGCCACTGTGCCTGGCCCACATTGAGTTTTTTTTTTTTTTTTAAATTCACAAAGCTATTCAACAGATTAAAGTCCAGAAAATATATAGAAGAACAGGCCTGAAACTTGCTACAGCAAAGCAACTCTCAGTTAAGCAAGAGCGTGGATGACAGTGCTCACCTGGCACCCCACCTCCGCATCGTAGCCCCAGTGCCCATCCTCACATTCTTCACACTTCACACCCTGTGTGTGAGGGGGGCAGACACACTCTCCAGTTTCTGGGTCGCAGGTATTCTGAGTGTGTGGGCAGTCACAGGCTGAAATAAAGATGAATGCTGGGTTACAGATCTGGGTGATGTCATTAAAGGGCTAAGAGCTGATGCTGTTATTTCCCTTTTATTAAGAGTCCAAGCCACTCTTCTCACTCCTAAAAGACGCCTCACAATTCCCAAGACCCCTCCATGTCTCATGGAGGTAGCCGGCCCTCCATCTCAGGAGATGCTGAGGGAAGCGGGGAAATGGGGACAGGACAGGGGAAATAGAGAAAAGAGTGAAAAAGCCCTCACTAGGTGATCACAGAGGGAGCCAATATTTACTAAGCACTTACTGCAGGCCCAATGCCATGCTGAGGACTTTATATAGAACACTTACACTAACTTCTCAATGCAGATTCTCATTAGCATCCCCATTTTACAGATGAGGAAACTGAGGCCAAGCAAAGTTAAGTAATGAATCTAAGCTCCCACAATTAGTAGGCGGCAGAGCCATGACCAAAACTTAGGCTTGTACCCTGATAGGGACCAGAAACCAGAAAAAAGGTATGAAATCCTCCAGGGAAAGAAGAGAAAAAGTAAAGGCACTTAACCAAAATTAGTTGGAAGTAGAGGGAGGGCCCAAGGAAAGCTCTGGGAATGACTACAAAGTCTCAAACAAGGAAATCAAGGCTTACGTGTACAGCTACCATCCTGGTAGGCGTAGAAGCCATGGGCACACCTGTCACACCTTTCCCTGCCACACCTGGGACACAGTGACACTGGCCTTCATCCGTGCAGCCATCTGACACGGAGCCTGCCACGCTGCAGTTGCAGGGCCGGCAGCCATGGCCTGAGTCCAGCCCATAATAGCCATGCTGTTTCACCAAAGGGGGAGAAAGTGGAAACCAACATACGTTTTAATAAATGACTCCTCATATTAGTATGTTCCAGAACACACACAGGGTATTTCATAGAATCATAAAGTATTCATGACACCATCCCCATCCCTTTATAGCAAACATCCACTCTCTAGACAGGCACGGCACTTGTCAGCCACACTTTATGACATGGTTTGACTCTGTGTCCCCACCCAAATCTCAAATCGAATTGTAATCCCCATGTGTCAAAGGAGAGAGGTGATTTGATCATAGGGGCAGCTCCCCATGCTGTTCTGGTGATAGTGAATTCTCATGAGATCTGATGATTTTATAAGTGTTGACAGTTACTCTCTCCTGCTGCCTTGTAAAGAAGGTGCCTGCTTCCCCTTCCACCATGATTGTAAGTTTCCTGAGGCCTCCCCAACCATGCGAAACTGTGAGTCAATCAAACCTCCTTTGTTGATAAATTCCCCAGTCTTGGGTAGTATCTCTATAGCAGTGTGAGAACAAACTAATACACTTGGGGACTTAGCTCCTTCTGAGTCATGGATTCAATCGCCTCTGTACCAAGGCTAAGGTGTCAATTAGTCACATGCATCTTACCAAGCACTGGTCACACTGCTGTCCAGTCACGTTTGGTTTGCAGTCACAGAGCCCGGTCTCAAGATGGCACACGGCAGAATGGGAGCCTTTCACATGGCATTCACAGGCTAAACACATGCACACAAAGACATATTAACCCTCACTTCTGAGGATGGTTATCATAAGATCCGTCATCCCCAAAGGAAAAAAAAAATGTAAACTTTCAATGTTTCAAATCACAAAACTAAAAATAATATTATTGGCAATAACTTTAGAAGTTTAGCATTTTTCTGAAGAGTAAACTGAAACAGGGTTAGTGGAAGGATCCATCACAGGAAAAACACATTGAAGCTATTAAGACAATAATTAGCGAATTCGCTTCACCAATTTCATGACTTCCTCGACATATTTTAAATGAGCTACAAATTCCCATGAAAAACATGCAATGGAGATTTCAAAATCAACTTAGCCATTTGCCCTGATTCCAATCAGGTACATATTCAATATTTTAAAGCTCAGTTAAAACGTAATCTAAATAAGTACATATTAATATTATATTTCATAATTTAATGAAAAATATCTTTTCATTAAATATGATATCCCAGTTCTAAGTCATGAGTCATTTGTAGTTTCAGGTCAGATGGTTCCATTTTATCTACAGTTACAACATTGATGCTTAAAGCTACAAAGTTCCCTACCTTTGCAAAGTGATACAATCTTACGGGTCCAAAATATATTTAATCAATATTCACAGGGGAACCCTTAATAAGCACTTCAGTTAGAATATTTAATATGTTGGCTGTGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGACAAGGAAGGCGGATCACCTGAGATCAGGCGTTCAAGACCAGCCTGGCCAACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCGTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCATTCTAGCCTGAGCGACAAGTGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAACATTTAATATGTTGCCTGACAAAATATTCCAGGTACTCTTTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCGCCTTTCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTN | pathogenic | 287,423 |
The chromosome 18, position 7034581 genetic variant in gene LAMA1 (laminin subunit alpha 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic | GATTCCAAGCGCATTTTCATATATTTCACATGTAAGGTGGAGCCCACCAAAGTAAAATAGCGAGGGGCCATAAAAGGTCTCAAAATAGGGCTGGCTTGTCTAAAGCTACCCAGGTCACATGCTGGTGATTTGTAAATGTTCAGATATGATCAAGTTCCATCCTCCTTAGAAACACAGTCAATGGCATGAGTATTGCAAGTTTCTTGTTGACTAAGGCAAGAGGGCAGCACTAAGTCAGAATATTGTCCGGTGCTCCAGCCCATTCCTGGTGGAGGAATCTGATTTTTTTAAACAATGTGACTTCTAATATTTCTATTGCCCAAAAAAGACTGAGCCAAACATTGGGCTGCTAAAGCTAAAAATCAAATGTTTGCCATGACATCCCCTTCAGTGCACTGTTTTCCCCTTAGGAAGGAACGAAAGGAAAAAGACAGGAAGAGAGAAGCGTCACCTCACAGGAGGTCCCTGTGTAGCCTTGCGGACATTCACAGTGCTCCACATCAGCGGCCACCACCAGGTCGATGGCATTAGAGCTGGCTATGTCCAGAGAGACGGACTCCAACCTACAAATAGACAGATTGTTATGTGACTCACACGCTCGCAAATACATCTCACATCTCAATGAAGATGGGCTCCTAAAAGATTTAAATCCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACTATTAAAAATACAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGATCCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGATAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAGACTTAAATCCAATAAAAGGGTGATGTGATTTTTGTAAATAACTAAAGGTCTTTCACAACAATATATTATCTGGGAGCCATCATTATTCCCTGGAAATGCCTTCAATGTTTGGTACAAAGTCATGCTGCTGCCCATAGATGACTGTGGGAAAGGTCTGGTGTTGCCTATTTGGAGTTGAAGCACCTCAGAAAAATTAATCCATTCAATTATCACAAATAGAAAGATTACCCTTAAATGTGTCATGCTATGTTTGTGTTAGATGCATACAACTTTTTTTTTTTGAGACAAAGTCTCGTTGTGCTGCCCCAGCTGGAGTGCAGTGCCTTAACCTCAGCTCACTGCAACGTGCACCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGCAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTAGCTGCATACAACTTTTATGCTTGGCACGGCATTGCCAGAAATTGTCCTCCCGAAAGTAATCAAATGACCAACGATGGATACGTTCACTTAAATGGACTGAGTAAAAGCTAAGACCATTAACATTAGGATGGTGAGAACCAGGTGCAACATGGTCCAGACAATCGCTAACTCATCGTGCATTTCCCAGAAACCCCCTTTGAAAGTTTCTCATCCTAATGTCAAGTCTGTCTTCTACTGGATACACTTGATGTGGATAACTGTTCTTACGTTTTCAATAAAATTACATTTATAAACTTAATAATTCTTAAGACAGCCAGATCCTGTAGCTGTGTCCTTAATATAATGAATGTAAAATACGTTGAGCTTTAAATATATATGAATAAACAAACATAAAATGGAAGTACCTTCACCGTAAGTTTTTCCTCCATTTTCAATACATACCTGTAAAGAGCCATTTTTGCAGAATTGTAGTTGGCTCTGATCAAAAGATGTGTCACATTGGCAAGGACAGTCATCAGCTGGTCACGATCAATCTGCCTTTTGCTGTGAAAATCTTGGAAGTTTTCAGGCACAAGTCTAACCACGTTTAGGTACTCTTCATAAGGCTGCAATGACAGACCCTCAGCCTGTGTGCTTAAAGTGAGTCCGTTTCCCTAACATTTAAAAACAAGAGAAAATATATTTGTCATTCAATTTAATGATAAAATAAAAATAAAATCAAATTTTGTATTCAGCAACGTGGTTTTTCATTCGTGCCTAGCTTCTTGTGGCAAACGTGTAATGGTGTGTACAGCTCTTGGCCCAGAATTATCAGAGAAAAGGTGTTTCATTGTATTATTTTTAGAGGGGTTCTGGTAATAAACTGAAAGCCTGTGTACTTCGCTGGGATCTTGGAAAAGAAAGAAAGTCGTGCAGTTGCCCACAGCTTTTATCAAAGCAACCCATCTGACACCTCTAATCTTTAACTAAAGTACAGAAGTAGAAAAAGTATGTAAACATAGCTCCAGCTTTTCATCAAGTTGCTGTTCACAAAAGTGATTTACCGTGTGCGGTCTGCAATTGGTCAGGCTGGAGATGGAGGTGAAGATAGCTCCAGGTGAAAGGACATGAGAGACAAGAACCTGGAGTGGTTTCTGCCCAGACATGCCCCAGACCCTGGGACATTACCACTTGGGGAGTCCTCCTGACTGAGCTGGATCTTTTTATGGAGACTGAGGATGTGGGGATAGGGACAGAGGCTGAGGACAAGTATGGCAACACGTCTACTGTCCTCAGACCGCCAAGTACTGCCTAATCCATTCATCTGAGAGGCAAAGTGGCACAGGGAAGAAGAGACTTCAAAAAGAAGATTCAAGGTCAGAGCAAAAATTTGTCTCCTTTTTACTTAAAATTTTTTTTTTTTTGAGATAGGCTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGGTGCAATCACAGCTCACTATAACCTTGAACTCCTGGGCTCAAGCCATCCTCCTGCCTCACCCTCCCGAGTACCTGGGATTACAGGCACGTGCCACGGTGCCTGGCTAATATTTTTTGAGAGACGGGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTGGCTTCAAACAATCCTCCTGTCTCAGCCTCCCAAAGCACTTACATTATAAGCATGAGCCACCAAGCCCAGCTCCCTTTCTTTTTAAATGTGAAAAGATGGGTACACCCTGGAGATGAAGAGAAGAGTGGCGGGTGCTGTCCTGAGGCAACTCCAGAAATGGGCTCAAAGACAGATTCTCACACTCACCATCTCAGTAGTCCCCACGCAAGTCCAGGGTCTACTGAATGGCCACCTGGCCACCAGCTCCTTGCTGGGATGTCCTCACCTAGTAACTTTCAGTCATAAACTATCAGCCCACTAAGCCCTAAGCTCTATAGCAGAATCAAAGCAAAAACAATCACCTTAATGATGACGTCAGCATGCGACATGAGGTTACTGTCTACCGTCTCTACCGGAATATCGTAGGACACCGTGTATTTCAGGAATCCGCCAAACGCAGTCAGCTGAAATGTTTAAGCGAGAATGAACACGAAAGGGGAAGACAATCACAGCAACAATCAAGTAAGAGGAAGTGGTCACTGGGATCCATCTGCAAACAACTAGGCTACAACTATCCCCTTGACCATGACAGACAAGGAAATTCACATTAAAGGCAGTGAAAGGGGAGTATATTCATAAACATTTTGGTTAATCAATATTACCAACATGCAGGACACTGTTTGAAAGCACAGAAGAAAAATGTACTCTTTGTTAGAGACCACAAGGCAAATTACTATAAACTTTTGTTAATCACACAATAGATATTTACTTCGGTTAAGTAATTTAGGGGATGAGGAGTTTGACCCATGTCTACAATCTCCACATTTTCATTTCAGCATCCTCCTCATAGGACAACAAAGAATATGTCTGATTTGCTAGTTAGAGAAAGGACTAAAGGTGTTTCTTCTGATTAGATGTCCTTCAATATAAAATTAAGATTTTCTTTCTGATGGGTATATGACAGCAATATATTGTTCAGAACCCAACTTTGCACCATAAAATTG | GATTCCAAGCGCATTTTCATATATTTCACATGTAAGGTGGAGCCCACCAAAGTAAAATAGCGAGGGGCCATAAAAGGTCTCAAAATAGGGCTGGCTTGTCTAAAGCTACCCAGGTCACATGCTGGTGATTTGTAAATGTTCAGATATGATCAAGTTCCATCCTCCTTAGAAACACAGTCAATGGCATGAGTATTGCAAGTTTCTTGTTGACTAAGGCAAGAGGGCAGCACTAAGTCAGAATATTGTCCGGTGCTCCAGCCCATTCCTGGTGGAGGAATCTGATTTTTTTAAACAATGTGACTTCTAATATTTCTATTGCCCAAAAAAGACTGAGCCAAACATTGGGCTGCTAAAGCTAAAAATCAAATGTTTGCCATGACATCCCCTTCAGTGCACTGTTTTCCCCTTAGGAAGGAACGAAAGGAAAAAGACAGGAAGAGAGAAGCGTCACCTCACAGGAGGTCCCTGTGTAGCCTTGCGGACATTCACAGTGCTCCACATCAGCGGCCACCACCAGGTCGATGGCATTAGAGCTGGCTATGTCCAGAGAGACGGACTCCAACCTACAAATAGACAGATTGTTATGTGACTCACACGCTCGCAAATACATCTCACATCTCAATGAAGATGGGCTCCTAAAAGATTTAAATCCGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCTAATATGGTGAAACTATTAAAAATACAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGATCCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGTGATAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAGACTTAAATCCAATAAAAGGGTGATGTGATTTTTGTAAATAACTAAAGGTCTTTCACAACAATATATTATCTGGGAGCCATCATTATTCCCTGGAAATGCCTTCAATGTTTGGTACAAAGTCATGCTGCTGCCCATAGATGACTGTGGGAAAGGTCTGGTGTTGCCTATTTGGAGTTGAAGCACCTCAGAAAAATTAATCCATTCAATTATCACAAATAGAAAGATTACCCTTAAATGTGTCATGCTATGTTTGTGTTAGATGCATACAACTTTTTTTTTTTGAGACAAAGTCTCGTTGTGCTGCCCCAGCTGGAGTGCAGTGCCTTAACCTCAGCTCACTGCAACGTGCACCTCCTGGGTTCAAATGATTCTCATGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCATGCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGCAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCAGCCTAGCTGCATACAACTTTTATGCTTGGCACGGCATTGCCAGAAATTGTCCTCCCGAAAGTAATCAAATGACCAACGATGGATACGTTCACTTAAATGGACTGAGTAAAAGCTAAGACCATTAACATTAGGATGGTGAGAACCAGGTGCAACATGGTCCAGACAATCGCTAACTCATCGTGCATTTCCCAGAAACCCCCTTTGAAAGTTTCTCATCCTAATGTCAAGTCTGTCTTCTACTGGATACACTTGATGTGGATAACTGTTCTTACGTTTTCAATAAAATTACATTTATAAACTTAATAATTCTTAAGACAGCCAGATCCTGTAGCTGTGTCCTTAATATAATGAATGTAAAATACGTTGAGCTTTAAATATATATGAATAAACAAACATAAAATGGAAGTACCTTCACCGTAAGTTTTTCCTCCATTTTCAATACATACCTGTAAAGAGCCATTTTTGCAGAATTGTAGTTGGCTCTGATCAAAAGATGTGTCACATTGGCAAGGACAGTCATCAGCTGGTCACGATCAATCTGCCTTTTGCATCTTGGAAGTTTTCAGGCACAAGTCTAACCACGTTTAGGTACTCTTCATAAGGCTGCAATGACAGACCCTCAGCCTGTGTGCTTAAAGTGAGTCCGTTTCCCTAACATTTAAAAACAAGAGAAAATATATTTGTCATTCAATTTAATGATAAAATAAAAATAAAATCAAATTTTGTATTCAGCAACGTGGTTTTTCATTCGTGCCTAGCTTCTTGTGGCAAACGTGTAATGGTGTGTACAGCTCTTGGCCCAGAATTATCAGAGAAAAGGTGTTTCATTGTATTATTTTTAGAGGGGTTCTGGTAATAAACTGAAAGCCTGTGTACTTCGCTGGGATCTTGGAAAAGAAAGAAAGTCGTGCAGTTGCCCACAGCTTTTATCAAAGCAACCCATCTGACACCTCTAATCTTTAACTAAAGTACAGAAGTAGAAAAAGTATGTAAACATAGCTCCAGCTTTTCATCAAGTTGCTGTTCACAAAAGTGATTTACCGTGTGCGGTCTGCAATTGGTCAGGCTGGAGATGGAGGTGAAGATAGCTCCAGGTGAAAGGACATGAGAGACAAGAACCTGGAGTGGTTTCTGCCCAGACATGCCCCAGACCCTGGGACATTACCACTTGGGGAGTCCTCCTGACTGAGCTGGATCTTTTTATGGAGACTGAGGATGTGGGGATAGGGACAGAGGCTGAGGACAAGTATGGCAACACGTCTACTGTCCTCAGACCGCCAAGTACTGCCTAATCCATTCATCTGAGAGGCAAAGTGGCACAGGGAAGAAGAGACTTCAAAAAGAAGATTCAAGGTCAGAGCAAAAATTTGTCTCCTTTTTACTTAAAATTTTTTTTTTTTTGAGATAGGCTCTCTCTCTGTCACCCAGGTTGGAGTGCAGTGGTGCAATCACAGCTCACTATAACCTTGAACTCCTGGGCTCAAGCCATCCTCCTGCCTCACCCTCCCGAGTACCTGGGATTACAGGCACGTGCCACGGTGCCTGGCTAATATTTTTTGAGAGACGGGGGTCTCACTATGTTGCCCAGACTGGTCTCAAACTCCTGGCTTCAAACAATCCTCCTGTCTCAGCCTCCCAAAGCACTTACATTATAAGCATGAGCCACCAAGCCCAGCTCCCTTTCTTTTTAAATGTGAAAAGATGGGTACACCCTGGAGATGAAGAGAAGAGTGGCGGGTGCTGTCCTGAGGCAACTCCAGAAATGGGCTCAAAGACAGATTCTCACACTCACCATCTCAGTAGTCCCCACGCAAGTCCAGGGTCTACTGAATGGCCACCTGGCCACCAGCTCCTTGCTGGGATGTCCTCACCTAGTAACTTTCAGTCATAAACTATCAGCCCACTAAGCCCTAAGCTCTATAGCAGAATCAAAGCAAAAACAATCACCTTAATGATGACGTCAGCATGCGACATGAGGTTACTGTCTACCGTCTCTACCGGAATATCGTAGGACACCGTGTATTTCAGGAATCCGCCAAACGCAGTCAGCTGAAATGTTTAAGCGAGAATGAACACGAAAGGGGAAGACAATCACAGCAACAATCAAGTAAGAGGAAGTGGTCACTGGGATCCATCTGCAAACAACTAGGCTACAACTATCCCCTTGACCATGACAGACAAGGAAATTCACATTAAAGGCAGTGAAAGGGGAGTATATTCATAAACATTTTGGTTAATCAATATTACCAACATGCAGGACACTGTTTGAAAGCACAGAAGAAAAATGTACTCTTTGTTAGAGACCACAAGGCAAATTACTATAAACTTTTGTTAATCACACAATAGATATTTACTTCGGTTAAGTAATTTAGGGGATGAGGAGTTTGACCCATGTCTACAATCTCCACATTTTCATTTCAGCATCCTCCTCATAGGACAACAAAGAATATGTCTGATTTGCTAGTTAGAGAAAGGACTAAAGGTGTTTCTTCTGATTAGATGTCCTTCAATATAAAATTAAGATTTTCTTTCTGATGGGTATATGACAGCAATATATTGTTCAGAACCCAACTTTGCACCATAAAATTGNNNNNNN | pathogenic | 287,442 |
Does the variant impacting LAMA1 (laminin subunit alpha 1) on chromosome 18, position 7043347, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | ATGGTTGCAAAGTTTAAATGATATATTTTTTTAAATGAACTCAATTGAGGGTAAATGTCACCACCACTATCACCATCATCATCTTCATTATTATCATCGTCATCATCCCCTCACCAGGTGCACGTAAGAATCAATTCAGTTGGGTAATTTACCCTCCCCATCGCTGGGGGGCCCACCCATCCCTACTGGTCGATATCCATTTTAACTGCCAGTGGCTGAGAACTTGATGGGGTCACAAGAGTCTTTGAACAGACGCAACCTATTCAGGAGACTCTGGTATTTGCAAGTCAATTTGCCAGTTTTTGAAACGGAAAGAGAACTCTGACATTTACCAAGTTAATGGGAGGACTTGCTTGATCTGTGAGATGATTTATGCAAAAGCCCTCCAAATGTCTTCTAAAAGCTAAGGAGAGCAATTGCTATTTACTGTGTTCCACGCATGGCTTTAAACTGGGCCTTATTTCTTCCTTCACCAAATGCTCAATTATCTGCTCAAATGTCATTTCATCACCCCAACATTGTCACCTCATTACCCCATCTCCCTCCATTCATGAGTCCTAATTTTGCTTTATGTCCATGACACTACCTCTCGACCTGGCATTATATTACCCATGTACCTGTTTGTTTAGTGTTTTTGTGAGCAAGGACTTTGACTACCTTGTTAAGTACACATTCCCAGGTCCTCAAAAACTGCCTGACACATAGTAGGTGCTTGATACGTACTTGGTGAACAAAAGAATCAATAATCATGTTACCAACTGGCTATTACCATTAGTTCCAGTATGTGCAAATCTTCCACACACACACAAAATCAATTACAAGCACAAAAGTGAATCAAGTACTTACCATTGTGTAAGTCAGAATGGAGGTCATCCTTAATACAGACAGAACTGAGGGACCCCACAGGGTCACAATTACAGGGGCGGCAAGGCTCATCCTCATAAGGAGACACCTGAAAGGCAGAGGTTGCCCTGGATTCTCTTACTAGAAATAACAGCAATGTTGGCAATAGTATAAATAAGAAGGTATTGGCTTTTTACTCAAGATGGGACTATTACGATGATTTTGTGCATGGGGGTGGGGGTTAGGTTTGAGGAAGATAAGATGATCCCAAGCCAGGAAGCCCAAACATCTTTTTGATGGTGGCAGTAGTTAGTACCCTTAGCAAAGTGTCATCTTTTTCTATTATCCCTGCTCTCCAGCCCCCCTCGCGCTGCTGTCTCTCAGAGCCACGTTATAACCAGGACACCACAAGGACTCATGTAAGAACTACATATCAAGTCAATTAAAGATTGGCTGAACACGGCCAGGCGTGGTGGCTCACATCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCGGACCACAAGGTCAAGGGATTGAGACCATCCTGGCCGACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGAACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAAATTAAAAAAAAAAGATTGGCTGAACATCTCCTACAGGCAAGAGACAGCTGCTTTAGTTATAGCTGAATTTTCACATCTGTAGTTAGTATTATGACCCAGGATTACATAGCTAATGGACCCCTGAATTCAAGATAAATAACAATGACTGACATCTTATTTTGAGCAAGAAAAGCAGGATAGAGTAGGAAATATATATATAAAAACACTACTGGCATAACAAGGATATAAATGAAATATTACAAAAGTCTCCAATACAGAGGTTAAGACTTGACAAAGTCTCTTTTCCACCTGGGGAAGATGATGAAGATCAGCAATGGCAAAGAAATACTCTTACTTTGTGTGGTCTATAATATCCATCAATACAGGTTTCACAGTTGATTCCCATGGTGTTCTGCAAGCAATTTATGCAAACCCCTCCTCCTCTGAACTGTCCAGCAGTATTCAAACTTTTCTTCTGCTTTGCAACACTTTCATCATAGTAACAGTCTTTGGCTTTATTGTGACAATTACATGCTAGGAGAATATTTTTAACATCTCAATTAATTTACATAGCATGCCTTATACAAAGAAAACTCTTAACCTCCCTAAGTAAGTTCTATGATTTTAGATTAAATTAAAATCCTAGAATAAGTAATTTTAATAAGATATGGGCAGTATTATGGAGGACAATTGGGAAGAGCTATTAATATCAAAATAATAAATGCACATACCCATTTGACCCAGCAAACCATCTCCTGGGATTATATTTCGCAGAAGTACTTGCCCACTTGAGAAGGACACATACAGGGTTAATCACTGCACCATTGTTTGTGTGGACAACAGACTAATAACCATCAAAATAACCGCCGATAGGTGGTTGTTTAATAAATTATACTACATTTGTATAATGGAATTCTGTGCAACTGTTTTTAAAAACAGCATTTCTAATTGCTAATATGGAAAGAATTTCACAATACATTGTTAAATATAAAAAGCGATGTGGGCTGGGCGCCATGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAAGCATGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCGTAGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGATATGTACAATGGCATGCATAGTACATTGTCTTCTGCGTAAGAACTGTGTTGGCTGGAGGGATATGTTAACATATGCGTTATATGCATAACAATTTTAGGAAGGACATACTAGAAAACAATAAAAAGTGCGAAGGAGGGAGATGAAGTGGAAGTCATGCTTTTAACTACATACTTTTACATATTGTTAGATCTAGGAATCTTGTGAATATATTGCTTATTTAAAACTTAAATCCAAATCAATACAGAATATACAACCTGGCATATCCCATGGTAAAAAAACAAAAACAAAAGTAAAATTAATACAGAATAATAGACTATACGGGAAGGGGGACTCATAGATAAAACAGCAAACCCATAAAGATACATTTAGGCCACAATAGTTAAAATTTTAAGGTCATCTGCAGCTTTGGAAACTACTTAAATTTCTAAGAAAACAAGTTACCTGCTAACTATAAAAGTTGTTAAGACACCATAAACTTGGGACGTATTAAGAGGAAAACTGTACTGACCTTCAGATTCTAAGTATACTGACCTTCACATGTATTGCCGGAGGACACGGTTCCCGGCCTCCAGGGCTGCTGATGGTACCCAGGACAGCACCTGTTACAGCTCTCCCCGCAAGTATTATGCTCACATTGACACTGCAGTTTCTACACAATAAGGAAGCCAAAACTGAATTAGAAAATGTATCTGCTTATGTTTCTTAATTTCATGGTAAAAAGAACCTATCTGTCAAATATGTGGCAAGAACCTCACAACAGAGGATATATGATTATCATCAAAGCAAACTGGCATTTAATTTTTAGATGCCAATATATACAAATAACCTGGTTACAAACAGAAATGAAGAGGAATAAAGCAAAACCAGAATACGACTTAGCTAATAAAAACTTTTTTTAAAAATATACATGGAACTTATTAAGGGTTTAGAAACTCCTATTAATAATTTTCTTAGTGTTCATCTACAGATTTTTCAGCATCGATAACAGAATAGTCCTATTCAAGAGGTAAAGAATTACAAAGATTAGAAGAAAATAAGAAGTAACTTCATGCAAGTGTTTTAAAAGGGAAGATGCCAGGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAAGATAATCCCTTGAACCC | ATGGTTGCAAAGTTTAAATGATATATTTTTTTAAATGAACTCAATTGAGGGTAAATGTCACCACCACTATCACCATCATCATCTTCATTATTATCATCGTCATCATCCCCTCACCAGGTGCACGTAAGAATCAATTCAGTTGGGTAATTTACCCTCCCCATCGCTGGGGGGCCCACCCATCCCTACTGGTCGATATCCATTTTAACTGCCAGTGGCTGAGAACTTGATGGGGTCACAAGAGTCTTTGAACAGACGCAACCTATTCAGGAGACTCTGGTATTTGCAAGTCAATTTGCCAGTTTTTGAAACGGAAAGAGAACTCTGACATTTACCAAGTTAATGGGAGGACTTGCTTGATCTGTGAGATGATTTATGCAAAAGCCCTCCAAATGTCTTCTAAAAGCTAAGGAGAGCAATTGCTATTTACTGTGTTCCACGCATGGCTTTAAACTGGGCCTTATTTCTTCCTTCACCAAATGCTCAATTATCTGCTCAAATGTCATTTCATCACCCCAACATTGTCACCTCATTACCCCATCTCCCTCCATTCATGAGTCCTAATTTTGCTTTATGTCCATGACACTACCTCTCGACCTGGCATTATATTACCCATGTACCTGTTTGTTTAGTGTTTTTGTGAGCAAGGACTTTGACTACCTTGTTAAGTACACATTCCCAGGTCCTCAAAAACTGCCTGACACATAGTAGGTGCTTGATACGTACTTGGTGAACAAAAGAATCAATAATCATGTTACCAACTGGCTATTACCATTAGTTCCAGTATGTGCAAATCTTCCACACACACACAAAATCAATTACAAGCACAAAAGTGAATCAAGTACTTACCATTGTGTAAGTCAGAATGGAGGTCATCCTTAATACAGACAGAACTGAGGGACCCCACAGGGTCACAATTACAGGGGCGGCAAGGCTCATCCTCATAAGGAGACACCTGAAAGGCAGAGGTTGCCCTGGATTCTCTTACTAGAAATAACAGCAATGTTGGCAATAGTATAAATAAGAAGGTATTGGCTTTTTACTCAAGATGGGACTATTACGATGATTTTGTGCATGGGGGTGGGGGTTAGGTTTGAGGAAGATAAGATGATCCCAAGCCAGGAAGCCCAAACATCTTTTTGATGGTGGCAGTAGTTAGTACCCTTAGCAAAGTGTCATCTTTTTCTATTATCCCTGCTCTCCAGCCCCCCTCGCGCTGCTGTCTCTCAGAGCCACGTTATAACCAGGACACCACAAGGACTCATGTAAGAACTACATATCAAGTCAATTAAAGATTGGCTGAACACGGCCAGGCGTGGTGGCTCACATCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGCGGACCACAAGGTCAAGGGATTGAGACCATCCTGGCCGACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGAACATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCGTCTCAAAAAATAAAAATTAAAAAAAAAAGATTGGCTGAACATCTCCTACAGGCAAGAGACAGCTGCTTTAGTTATAGCTGAATTTTCACATCTGTAGTTAGTATTATGACCCAGGATTACATAGCTAATGGACCCCTGAATTCAAGATAAATAACAATGACTGACATCTTATTTTGAGCAAGAAAAGCAGGATAGAGTAGGAAATATATATATAAAAACACTACTGGCATAACAAGGATATAAATGAAATATTACAAAAGTCTCCAATACAGAGGTTAAGACTTGACAAAGTCTCTTTTCCACCTGGGGAAGATGATGAAGATCAGCAATGGCAAAGAAATACTCTTACTTTGTGTGGTCTATAATATCCATCAATACAGGTTTCACAGTTGATTCCCATGGTGTTCTGCAAGCAATTTATGCAAACCCCTCCTCCTCTGAACTGTCCAGCAGTATTCAAACTTTTCTTCGCTTTGCAACACTTTCATCATAGTAACAGTCTTTGGCTTTATTGTGACAATTACATGCTAGGAGAATATTTTTAACATCTCAATTAATTTACATAGCATGCCTTATACAAAGAAAACTCTTAACCTCCCTAAGTAAGTTCTATGATTTTAGATTAAATTAAAATCCTAGAATAAGTAATTTTAATAAGATATGGGCAGTATTATGGAGGACAATTGGGAAGAGCTATTAATATCAAAATAATAAATGCACATACCCATTTGACCCAGCAAACCATCTCCTGGGATTATATTTCGCAGAAGTACTTGCCCACTTGAGAAGGACACATACAGGGTTAATCACTGCACCATTGTTTGTGTGGACAACAGACTAATAACCATCAAAATAACCGCCGATAGGTGGTTGTTTAATAAATTATACTACATTTGTATAATGGAATTCTGTGCAACTGTTTTTAAAAACAGCATTTCTAATTGCTAATATGGAAAGAATTTCACAATACATTGTTAAATATAAAAAGCGATGTGGGCTGGGCGCCATGGCACACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGTGTGGTGGTGGGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCATGAAGCATGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCGTAGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGCGATATGTACAATGGCATGCATAGTACATTGTCTTCTGCGTAAGAACTGTGTTGGCTGGAGGGATATGTTAACATATGCGTTATATGCATAACAATTTTAGGAAGGACATACTAGAAAACAATAAAAAGTGCGAAGGAGGGAGATGAAGTGGAAGTCATGCTTTTAACTACATACTTTTACATATTGTTAGATCTAGGAATCTTGTGAATATATTGCTTATTTAAAACTTAAATCCAAATCAATACAGAATATACAACCTGGCATATCCCATGGTAAAAAAACAAAAACAAAAGTAAAATTAATACAGAATAATAGACTATACGGGAAGGGGGACTCATAGATAAAACAGCAAACCCATAAAGATACATTTAGGCCACAATAGTTAAAATTTTAAGGTCATCTGCAGCTTTGGAAACTACTTAAATTTCTAAGAAAACAAGTTACCTGCTAACTATAAAAGTTGTTAAGACACCATAAACTTGGGACGTATTAAGAGGAAAACTGTACTGACCTTCAGATTCTAAGTATACTGACCTTCACATGTATTGCCGGAGGACACGGTTCCCGGCCTCCAGGGCTGCTGATGGTACCCAGGACAGCACCTGTTACAGCTCTCCCCGCAAGTATTATGCTCACATTGACACTGCAGTTTCTACACAATAAGGAAGCCAAAACTGAATTAGAAAATGTATCTGCTTATGTTTCTTAATTTCATGGTAAAAAGAACCTATCTGTCAAATATGTGGCAAGAACCTCACAACAGAGGATATATGATTATCATCAAAGCAAACTGGCATTTAATTTTTAGATGCCAATATATACAAATAACCTGGTTACAAACAGAAATGAAGAGGAATAAAGCAAAACCAGAATACGACTTAGCTAATAAAAACTTTTTTTAAAAATATACATGGAACTTATTAAGGGTTTAGAAACTCCTATTAATAATTTTCTTAGTGTTCATCTACAGATTTTTCAGCATCGATAACAGAATAGTCCTATTCAAGAGGTAAAGAATTACAAAGATTAGAAGAAAATAAGAAGTAACTTCATGCAAGTGTTTTAAAAGGGAAGATGCCAGGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAAGATAATCCCTTGAACCCN | pathogenic | 287,455 |
Does the chromosome 18 mutation at position 9117844 within gene NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | TGTGGTGAGCCGAGATCATGCCATTGAACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATTTATGATCTCTTCAGGCTATTAGCCTCTTGTCATCAAATGTGTGTAAGATTTAAGACTCATCACTGTCAAGTTAATGGATGAGTTCTCAGAGGCAAAGGCTTTATAGAGAAAAGAAGATAGGAGTGTGAACTGAGCCCTGAGGACAGCCTGCAAGGAGTGGATAAAAAGCCAATAAACAGAAAATGTTAGTGTTCAGAAATTAGGAGAAGACTGAATACTTTCCCTACTCTTAAAATTAATCCTTTTATTATAAGTATACAGTCTTTTCTCTCAGAATTTAGTTAAGTAACTCACTGATGTTACTCAAAAATTGTTACTCGATTAAAAAAATTTTCTGAGCTAAGATGACAGTGACTGTCTTCTAAATTTTAGTTTCAGTTAATTTTTCAAAACAAAACCAACACAATCAAAGCCCCCTTGTGCACCTCTGACTGTATCCCTCCCTGCCTTCCAATTATCCTGAAATTGATATTTATCACTCCCATCTTTTGTACGTGTGTCTCACATCCTGTACCTTAGTCTTTTCTTGTTAATTAAAGCAGATGTTCCATGTAAACTTATTTATTAATATTTCTTCAACTGAAATATCATTTGGACCTAGGGTAAAGTTAAATATACTATTGTGTTATATTACTCCGTTTACTTTCTTCTATGTTTGCCTTTGAATTGTCCAACTCTTTGCTAGTTCCATGCTTGGTTTAACCCAGCCAGTGTTCTGCCGTCTGTGGTTAGTAGAACTCAGAAATTGGAGGAATCCAGAACAGTAGTTGAAATACTTGGGGGCGGGGGACAGGGTAGGAGTGGAGGGTAGGAGCAAGAGGGCAAAGAGAAATGAAATGCAGCTGAGAGAATAATCAGATTCCTTCCAAAGCAACTGAACATTGTCAGTCCGCATAGCATCATAAATAGCTTTCTGAAACTACTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGCTGCTCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACCAGCGTGCGCCACCACGCCCAGCTAATTTTTGTGTTCTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTCCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCACACCCGGCCAGAAACTACTTTTTACGGCTGGAGTTTCAGAACTAATTTAGTAAAGGATTGAAAAGGAAGGAGGATACAGTTGACTCATTTGTACAGAGTATATGACTCATTTGTACAGAATGAAAACATGTTTATGAAGGTTCACACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATTTTTTAAGGCTATGATTTACTAAACTTTCTTAAAATTTTAAATTTTAGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGGTAAGTAATTACTTAGATTTCTTTGGAAAGAAAAGACTTGGAAATTGGGGTAAATCCATTGTAAAAATCCAAAATATCTTAAATACCATTGTCTTTGATATATGATGGTCATCGTGAGAATTTACATACAGCTAATTGAATTTACTACATTTCAAAAGATGTTGGTTCCAGTTGAACCTCATGAGTTTAAATTAGTATCAGGAAAACTCTGGGAATAAGAATTTATTTCCAGTGAAATTACTGTGTGAGCCCTAACCTGATTCTCATCACACTTTGGGTTCTCAGTCATGTTGGCTTACTGAGAGTTTGGAGATTGTAACTTGTTGAATCCCAAAATGACACTAGTTTGAAACTCATGGATTTTAGTAATGTAGTAACTAGATTAGCAGCTGGTCTTTATATTTTTAGTTTCCGGAGTTTTAACTATAAATAGAAGTCTGTGAACTCCCCAGATTAGTTGCACAATTTGGAAAGGATAAGATATTATATCTCCCTTTTCTGACAAGGTGCTGTTTTCAGGGATTAATCTAGTATAAAGGCAATATAGTGGACTTGTGTGATGATTTAGAGTTAGTGGTGTAAGAAGTAGCTTCCTGCTATATATCAAGCATCAAATTGGCCACATATTTGAGATCATTGTCCAGAGTGTCTGTTTTCTTTCCTCTTTTGGCTTATGTCCTTTAAAAAGCAGAACTCCGAGAGTTAACATATCAAGAGATTCATTTCTGTATTCACCACACATACATAACATTAATTGATCGTAAGTGTTAATCTCAGTGTGACTCATTTGATTTCCTGTTGACATGCCATTTCTTGTCAGTTTTTGAAGAGGGCCTGCTTCTGCTCTTTTAAGAAGAGATAAAGCTTCTTGCTGTTGGCTATTATGGAAAACGTGGGAAAGAGATGGTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGTCCTTTTGTACCCTCCTAAAGTAATGGGTCTTAACCCTTTTGGATCCCAGATCCCTTTGACAATCTGATAACCTTGCTTTTGGGAAAATACACATATGTTCACATTTAAAATTTTGTGTTTTAATTTCATAAAGGCTTCCAATAATTGGTAATGTTTTGGTAATTCTATCAGAAGATCTTACTCTCTAATGAAGCTGGATAACACTTTTTGTTGTTTGGGTTTTTTTGGTCCTAAAGGTACTTCTCTTATTCTTTAAATGGTCCTTTGTAAATTTTTAAATTCTGCTAACTTTACTTTGGTAATCATACTTATCAAATGTGTGTTTAGACATTCTTTTTGATGGAAGGATAGGGTGGTATATATCATGTTGGAATTAAAATGGAGAGATTAAACAATAAGTAATAGTATAGTAATGTACAGTGTCATTCACACTTGAGAGAATTTGGATAAGTCTGAAAAACTGTTTTTGTTGTGTAGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGGTATGGCTAAATTAACATTATAATTAATTTACCAAATAGGTAATATTTTCTAGATGTATAAAATGATGTTCTTTCTTTTATACAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTACTGGATTCATTTTTGCCTTAGTTCTAAAAGAGAAGAGATTGTGTATGATAATTTCCTTTTATAGAAATTACTCTGATCATCTCCAGTGTCAGAATCTAGGATTTTGGAGCCCTTTAGCCATTTGTATGTTTCCTTGAATTGTCTTTGTGTTTTTGTTCATTCCCTTAATGCATAGAGGTGATTTCTAACCTTGCAGGAAATAAGGAAGGCATTATGGTGAAAGAGGGTATGTGTTTTTTTTTTTCCTTTTGAAGGAAATGGTCAAAGATAAAAGATTCCAAATGTGTATAACTTAGTG | TGTGGTGAGCCGAGATCATGCCATTGAACTCCAGCCTGGGCAACAAGAGCGAAACTCCGTCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATTTATGATCTCTTCAGGCTATTAGCCTCTTGTCATCAAATGTGTGTAAGATTTAAGACTCATCACTGTCAAGTTAATGGATGAGTTCTCAGAGGCAAAGGCTTTATAGAGAAAAGAAGATAGGAGTGTGAACTGAGCCCTGAGGACAGCCTGCAAGGAGTGGATAAAAAGCCAATAAACAGAAAATGTTAGTGTTCAGAAATTAGGAGAAGACTGAATACTTTCCCTACTCTTAAAATTAATCCTTTTATTATAAGTATACAGTCTTTTCTCTCAGAATTTAGTTAAGTAACTCACTGATGTTACTCAAAAATTGTTACTCGATTAAAAAAATTTTCTGAGCTAAGATGACAGTGACTGTCTTCTAAATTTTAGTTTCAGTTAATTTTTCAAAACAAAACCAACACAATCAAAGCCCCCTTGTGCACCTCTGACTGTATCCCTCCCTGCCTTCCAATTATCCTGAAATTGATATTTATCACTCCCATCTTTTGTACGTGTGTCTCACATCCTGTACCTTAGTCTTTTCTTGTTAATTAAAGCAGATGTTCCATGTAAACTTATTTATTAATATTTCTTCAACTGAAATATCATTTGGACCTAGGGTAAAGTTAAATATACTATTGTGTTATATTACTCCGTTTACTTTCTTCTATGTTTGCCTTTGAATTGTCCAACTCTTTGCTAGTTCCATGCTTGGTTTAACCCAGCCAGTGTTCTGCCGTCTGTGGTTAGTAGAACTCAGAAATTGGAGGAATCCAGAACAGTAGTTGAAATACTTGGGGGCGGGGGACAGGGTAGGAGTGGAGGGTAGGAGCAAGAGGGCAAAGAGAAATGAAATGCAGCTGAGAGAATAATCAGATTCCTTCCAAAGCAACTGAACATTGTCAGTCCGCATAGCATCATAAATAGCTTTCTGAAACTACTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGCTGCTCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACCAGCGTGCGCCACCACGCCCAGCTAATTTTTGTGTTCTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTCCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCACACCCGGCCAGAAACTACTTTTTACGGCTGGAGTTTCAGAACTAATTTAGTAAAGGATTGAAAAGGAAGGAGGATACAGTTGACTCATTTGTACAGAGTATATGACTCATTTGTACAGAATGAAAACATGTTTATGAAGGTTCACACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATTTTTTAAGGCTATGATTTACTAAACTTTCTTAAAATTTTAAATTTTAGGGAAGACGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGGTAAGTAATTACTTAGATTTCTTTGGAAAGAAAAGACTTGGAAATTGGGGTAAATCCATTGTAAAAATCCAAAATATCTTAAATACCATTGTCTTTGATATATGATGGTCATCGTGAGAATTTACATACAGCTAATTGAATTTACTACATTTCAAAAGATGTTGGTTCCAGTTGAACCTCATGAGTTTAAATTAGTATCAGGAAAACTCTGGGAATAAGAATTTATTTCCAGTGAAATTACTGTGTGAGCCCTAACCTGATTCTCATCACACTTTGGGTTCTCAGTCATGTTGGCTTACTGAGAGTTTGGAGATTGTAACTTGTTGAATCCCAAAATGACACTAGTTTGAAACTCATGGATTTTAGTAATGTAGTAACTAGATTAGCAGCTGGTCTTTATATTTTTAGTTTCCGGAGTTTTAACTATAAATAGAAGTCTGTGAACTCCCCAGATTAGTTGCACAATTTGGAAAGGATAAGATATTATATCTCCCTTTTCTGACAAGGTGCTGTTTTCAGGGATTAATCTAGTATAAAGGCAATATAGTGGACTTGTGTGATGATTTAGAGTTAGTGGTGTAAGAAGTAGCTTCCTGCTATATATCAAGCATCAAATTGGCCACATATTTGAGATCATTGTCCAGAGTGTCTGTTTTCTTTCCTCTTTTGGCTTATGTCCTTTAAAAAGCAGAACTCCGAGAGTTAACATATCAAGAGATTCATTTCTGTATTCACCACACATACATAACATTAATTGATCGTAAGTGTTAATCTCAGTGTGACTCATTTGATTTCCTGTTGACATGCCATTTCTTGTCAGTTTTTGAAGAGGGCCTGCTTCTGCTCTTTTAAGAAGAGATAAAGCTTCTTGCTGTTGGCTATTATGGAAAACGTGGGAAAGAGATGGTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGTCCTTTTGTACCCTCCTAAAGTAATGGGTCTTAACCCTTTTGGATCCCAGATCCCTTTGACAATCTGATAACCTTGCTTTTGGGAAAATACACATATGTTCACATTTAAAATTTTGTGTTTTAATTTCATAAAGGCTTCCAATAATTGGTAATGTTTTGGTAATTCTATCAGAAGATCTTACTCTCTAATGAAGCTGGATAACACTTTTTGTTGTTTGGGTTTTTTTGGTCCTAAAGGTACTTCTCTTATTCTTTAAATGGTCCTTTGTAAATTTTTAAATTCTGCTAACTTTACTTTGGTAATCATACTTATCAAATGTGTGTTTAGACATTCTTTTTGATGGAAGGATAGGGTGGTATATATCATGTTGGAATTAAAATGGAGAGATTAAACAATAAGTAATAGTATAGTAATGTACAGTGTCATTCACACTTGAGAGAATTTGGATAAGTCTGAAAAACTGTTTTTGTTGTGTAGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGGTATGGCTAAATTAACATTATAATTAATTTACCAAATAGGTAATATTTTCTAGATGTATAAAATGATGTTCTTTCTTTTATACAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTACTGGATTCATTTTTGCCTTAGTTCTAAAAGAGAAGAGATTGTGTATGATAATTTCCTTTTATAGAAATTACTCTGATCATCTCCAGTGTCAGAATCTAGGATTTTGGAGCCCTTTAGCCATTTGTATGTTTCCTTGAATTGTCTTTGTGTTTTTGTTCATTCCCTTAATGCATAGAGGTGATTTCTAACCTTGCAGGAAATAAGGAAGGCATTATGGTGAAAGAGGGTATGTGTTTTTTTTTTTCCTTTTGAAGGAAATGGTCAAAGATAAAAGATTCCAAATGTGTATAACTTAGTGNN | pathogenic | 287,479 |
Evaluate the clinical significance of the mutation at chromosome 18, position 9117903 in gene NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Mitochondrial_complex_1_deficiency,_nuclear_type_7'] | TCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATTTATGATCTCTTCAGGCTATTAGCCTCTTGTCATCAAATGTGTGTAAGATTTAAGACTCATCACTGTCAAGTTAATGGATGAGTTCTCAGAGGCAAAGGCTTTATAGAGAAAAGAAGATAGGAGTGTGAACTGAGCCCTGAGGACAGCCTGCAAGGAGTGGATAAAAAGCCAATAAACAGAAAATGTTAGTGTTCAGAAATTAGGAGAAGACTGAATACTTTCCCTACTCTTAAAATTAATCCTTTTATTATAAGTATACAGTCTTTTCTCTCAGAATTTAGTTAAGTAACTCACTGATGTTACTCAAAAATTGTTACTCGATTAAAAAAATTTTCTGAGCTAAGATGACAGTGACTGTCTTCTAAATTTTAGTTTCAGTTAATTTTTCAAAACAAAACCAACACAATCAAAGCCCCCTTGTGCACCTCTGACTGTATCCCTCCCTGCCTTCCAATTATCCTGAAATTGATATTTATCACTCCCATCTTTTGTACGTGTGTCTCACATCCTGTACCTTAGTCTTTTCTTGTTAATTAAAGCAGATGTTCCATGTAAACTTATTTATTAATATTTCTTCAACTGAAATATCATTTGGACCTAGGGTAAAGTTAAATATACTATTGTGTTATATTACTCCGTTTACTTTCTTCTATGTTTGCCTTTGAATTGTCCAACTCTTTGCTAGTTCCATGCTTGGTTTAACCCAGCCAGTGTTCTGCCGTCTGTGGTTAGTAGAACTCAGAAATTGGAGGAATCCAGAACAGTAGTTGAAATACTTGGGGGCGGGGGACAGGGTAGGAGTGGAGGGTAGGAGCAAGAGGGCAAAGAGAAATGAAATGCAGCTGAGAGAATAATCAGATTCCTTCCAAAGCAACTGAACATTGTCAGTCCGCATAGCATCATAAATAGCTTTCTGAAACTACTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGCTGCTCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACCAGCGTGCGCCACCACGCCCAGCTAATTTTTGTGTTCTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTCCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCACACCCGGCCAGAAACTACTTTTTACGGCTGGAGTTTCAGAACTAATTTAGTAAAGGATTGAAAAGGAAGGAGGATACAGTTGACTCATTTGTACAGAGTATATGACTCATTTGTACAGAATGAAAACATGTTTATGAAGGTTCACACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATTTTTTAAGGCTATGATTTACTAAACTTTCTTAAAATTTTAAATTTTAGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGGTAAGTAATTACTTAGATTTCTTTGGAAAGAAAAGACTTGGAAATTGGGGTAAATCCATTGTAAAAATCCAAAATATCTTAAATACCATTGTCTTTGATATATGATGGTCATCGTGAGAATTTACATACAGCTAATTGAATTTACTACATTTCAAAAGATGTTGGTTCCAGTTGAACCTCATGAGTTTAAATTAGTATCAGGAAAACTCTGGGAATAAGAATTTATTTCCAGTGAAATTACTGTGTGAGCCCTAACCTGATTCTCATCACACTTTGGGTTCTCAGTCATGTTGGCTTACTGAGAGTTTGGAGATTGTAACTTGTTGAATCCCAAAATGACACTAGTTTGAAACTCATGGATTTTAGTAATGTAGTAACTAGATTAGCAGCTGGTCTTTATATTTTTAGTTTCCGGAGTTTTAACTATAAATAGAAGTCTGTGAACTCCCCAGATTAGTTGCACAATTTGGAAAGGATAAGATATTATATCTCCCTTTTCTGACAAGGTGCTGTTTTCAGGGATTAATCTAGTATAAAGGCAATATAGTGGACTTGTGTGATGATTTAGAGTTAGTGGTGTAAGAAGTAGCTTCCTGCTATATATCAAGCATCAAATTGGCCACATATTTGAGATCATTGTCCAGAGTGTCTGTTTTCTTTCCTCTTTTGGCTTATGTCCTTTAAAAAGCAGAACTCCGAGAGTTAACATATCAAGAGATTCATTTCTGTATTCACCACACATACATAACATTAATTGATCGTAAGTGTTAATCTCAGTGTGACTCATTTGATTTCCTGTTGACATGCCATTTCTTGTCAGTTTTTGAAGAGGGCCTGCTTCTGCTCTTTTAAGAAGAGATAAAGCTTCTTGCTGTTGGCTATTATGGAAAACGTGGGAAAGAGATGGTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGTCCTTTTGTACCCTCCTAAAGTAATGGGTCTTAACCCTTTTGGATCCCAGATCCCTTTGACAATCTGATAACCTTGCTTTTGGGAAAATACACATATGTTCACATTTAAAATTTTGTGTTTTAATTTCATAAAGGCTTCCAATAATTGGTAATGTTTTGGTAATTCTATCAGAAGATCTTACTCTCTAATGAAGCTGGATAACACTTTTTGTTGTTTGGGTTTTTTTGGTCCTAAAGGTACTTCTCTTATTCTTTAAATGGTCCTTTGTAAATTTTTAAATTCTGCTAACTTTACTTTGGTAATCATACTTATCAAATGTGTGTTTAGACATTCTTTTTGATGGAAGGATAGGGTGGTATATATCATGTTGGAATTAAAATGGAGAGATTAAACAATAAGTAATAGTATAGTAATGTACAGTGTCATTCACACTTGAGAGAATTTGGATAAGTCTGAAAAACTGTTTTTGTTGTGTAGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGGTATGGCTAAATTAACATTATAATTAATTTACCAAATAGGTAATATTTTCTAGATGTATAAAATGATGTTCTTTCTTTTATACAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTACTGGATTCATTTTTGCCTTAGTTCTAAAAGAGAAGAGATTGTGTATGATAATTTCCTTTTATAGAAATTACTCTGATCATCTCCAGTGTCAGAATCTAGGATTTTGGAGCCCTTTAGCCATTTGTATGTTTCCTTGAATTGTCTTTGTGTTTTTGTTCATTCCCTTAATGCATAGAGGTGATTTCTAACCTTGCAGGAAATAAGGAAGGCATTATGGTGAAAGAGGGTATGTGTTTTTTTTTTTCCTTTTGAAGGAAATGGTCAAAGATAAAAGATTCCAAATGTGTATAACTTAGTGTCAAGATATTCTGAAAATTAATGTAATATTTAAACACTAGAATTACAGAAAAGAAGATC | TCTCCAAAAAAAAAAAAAGACACTTATTTAGGCTTTCCATATATCATGGTAATTTGCTTTCTAAAAGGCTATATGAATTTTTAAGTGTGCTTGTTTCTCTATATGCTCAACAGAATGGAATGCTATCTTAAAAGAAAAAAGATACTTGGTAGTTTGATAACTAGTAATGTTATTTTAAGTTGTATGTTTTTAGTTACTAGTAAGCAGTTTGAATTCTGTGAAACTTTTGTTCATGATCTTTACTCATTTTTTAAGTGCATTTATGATCTCTTCAGGCTATTAGCCTCTTGTCATCAAATGTGTGTAAGATTTAAGACTCATCACTGTCAAGTTAATGGATGAGTTCTCAGAGGCAAAGGCTTTATAGAGAAAAGAAGATAGGAGTGTGAACTGAGCCCTGAGGACAGCCTGCAAGGAGTGGATAAAAAGCCAATAAACAGAAAATGTTAGTGTTCAGAAATTAGGAGAAGACTGAATACTTTCCCTACTCTTAAAATTAATCCTTTTATTATAAGTATACAGTCTTTTCTCTCAGAATTTAGTTAAGTAACTCACTGATGTTACTCAAAAATTGTTACTCGATTAAAAAAATTTTCTGAGCTAAGATGACAGTGACTGTCTTCTAAATTTTAGTTTCAGTTAATTTTTCAAAACAAAACCAACACAATCAAAGCCCCCTTGTGCACCTCTGACTGTATCCCTCCCTGCCTTCCAATTATCCTGAAATTGATATTTATCACTCCCATCTTTTGTACGTGTGTCTCACATCCTGTACCTTAGTCTTTTCTTGTTAATTAAAGCAGATGTTCCATGTAAACTTATTTATTAATATTTCTTCAACTGAAATATCATTTGGACCTAGGGTAAAGTTAAATATACTATTGTGTTATATTACTCCGTTTACTTTCTTCTATGTTTGCCTTTGAATTGTCCAACTCTTTGCTAGTTCCATGCTTGGTTTAACCCAGCCAGTGTTCTGCCGTCTGTGGTTAGTAGAACTCAGAAATTGGAGGAATCCAGAACAGTAGTTGAAATACTTGGGGGCGGGGGACAGGGTAGGAGTGGAGGGTAGGAGCAAGAGGGCAAAGAGAAATGAAATGCAGCTGAGAGAATAATCAGATTCCTTCCAAAGCAACTGAACATTGTCAGTCCGCATAGCATCATAAATAGCTTTCTGAAACTACTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGCTGCTCAGGCTGGAGTGCGGTGGCGCGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAGGCGATTCTCCTGCCTAAGCCTCCCGAGTAGCTGGGACTACCAGCGTGCGCCACCACGCCCAGCTAATTTTTGTGTTCTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTCCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCATGAACCACCACACCCGGCCAGAAACTACTTTTTACGGCTGGAGTTTCAGAACTAATTTAGTAAAGGATTGAAAAGGAAGGAGGATACAGTTGACTCATTTGTACAGAGTATATGACTCATTTGTACAGAATGAAAACATGTTTATGAAGGTTCACACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATTTTTTAAGGCTATGATTTACTAAACTTTCTTAAAATTTTAAATTTTAGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGGTAATTACTTAGATTTCTTTGGAAAGAAAAGACTTGGAAATTGGGGTAAATCCATTGTAAAAATCCAAAATATCTTAAATACCATTGTCTTTGATATATGATGGTCATCGTGAGAATTTACATACAGCTAATTGAATTTACTACATTTCAAAAGATGTTGGTTCCAGTTGAACCTCATGAGTTTAAATTAGTATCAGGAAAACTCTGGGAATAAGAATTTATTTCCAGTGAAATTACTGTGTGAGCCCTAACCTGATTCTCATCACACTTTGGGTTCTCAGTCATGTTGGCTTACTGAGAGTTTGGAGATTGTAACTTGTTGAATCCCAAAATGACACTAGTTTGAAACTCATGGATTTTAGTAATGTAGTAACTAGATTAGCAGCTGGTCTTTATATTTTTAGTTTCCGGAGTTTTAACTATAAATAGAAGTCTGTGAACTCCCCAGATTAGTTGCACAATTTGGAAAGGATAAGATATTATATCTCCCTTTTCTGACAAGGTGCTGTTTTCAGGGATTAATCTAGTATAAAGGCAATATAGTGGACTTGTGTGATGATTTAGAGTTAGTGGTGTAAGAAGTAGCTTCCTGCTATATATCAAGCATCAAATTGGCCACATATTTGAGATCATTGTCCAGAGTGTCTGTTTTCTTTCCTCTTTTGGCTTATGTCCTTTAAAAAGCAGAACTCCGAGAGTTAACATATCAAGAGATTCATTTCTGTATTCACCACACATACATAACATTAATTGATCGTAAGTGTTAATCTCAGTGTGACTCATTTGATTTCCTGTTGACATGCCATTTCTTGTCAGTTTTTGAAGAGGGCCTGCTTCTGCTCTTTTAAGAAGAGATAAAGCTTCTTGCTGTTGGCTATTATGGAAAACGTGGGAAAGAGATGGTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGTCCTTTTGTACCCTCCTAAAGTAATGGGTCTTAACCCTTTTGGATCCCAGATCCCTTTGACAATCTGATAACCTTGCTTTTGGGAAAATACACATATGTTCACATTTAAAATTTTGTGTTTTAATTTCATAAAGGCTTCCAATAATTGGTAATGTTTTGGTAATTCTATCAGAAGATCTTACTCTCTAATGAAGCTGGATAACACTTTTTGTTGTTTGGGTTTTTTTGGTCCTAAAGGTACTTCTCTTATTCTTTAAATGGTCCTTTGTAAATTTTTAAATTCTGCTAACTTTACTTTGGTAATCATACTTATCAAATGTGTGTTTAGACATTCTTTTTGATGGAAGGATAGGGTGGTATATATCATGTTGGAATTAAAATGGAGAGATTAAACAATAAGTAATAGTATAGTAATGTACAGTGTCATTCACACTTGAGAGAATTTGGATAAGTCTGAAAAACTGTTTTTGTTGTGTAGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGGTATGGCTAAATTAACATTATAATTAATTTACCAAATAGGTAATATTTTCTAGATGTATAAAATGATGTTCTTTCTTTTATACAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTACTGGATTCATTTTTGCCTTAGTTCTAAAAGAGAAGAGATTGTGTATGATAATTTCCTTTTATAGAAATTACTCTGATCATCTCCAGTGTCAGAATCTAGGATTTTGGAGCCCTTTAGCCATTTGTATGTTTCCTTGAATTGTCTTTGTGTTTTTGTTCATTCCCTTAATGCATAGAGGTGATTTCTAACCTTGCAGGAAATAAGGAAGGCATTATGGTGAAAGAGGGTATGTGTTTTTTTTTTTCCTTTTGAAGGAAATGGTCAAAGATAAAAGATTCCAAATGTGTATAACTTAGTGTCAAGATATTCTGAAAATTAATGTAATATTTAAACACTAGAATTACAGAAAAGAAGATCNNNN | pathogenic | 287,482 |
The mutation impacting NDUFV2 (NADH:ubiquinone oxidoreductase core subunit V2) on chromosome 18 at position 9119519: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | ACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATTTTTTAAGGCTATGATTTACTAAACTTTCTTAAAATTTTAAATTTTAGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGGTAAGTAATTACTTAGATTTCTTTGGAAAGAAAAGACTTGGAAATTGGGGTAAATCCATTGTAAAAATCCAAAATATCTTAAATACCATTGTCTTTGATATATGATGGTCATCGTGAGAATTTACATACAGCTAATTGAATTTACTACATTTCAAAAGATGTTGGTTCCAGTTGAACCTCATGAGTTTAAATTAGTATCAGGAAAACTCTGGGAATAAGAATTTATTTCCAGTGAAATTACTGTGTGAGCCCTAACCTGATTCTCATCACACTTTGGGTTCTCAGTCATGTTGGCTTACTGAGAGTTTGGAGATTGTAACTTGTTGAATCCCAAAATGACACTAGTTTGAAACTCATGGATTTTAGTAATGTAGTAACTAGATTAGCAGCTGGTCTTTATATTTTTAGTTTCCGGAGTTTTAACTATAAATAGAAGTCTGTGAACTCCCCAGATTAGTTGCACAATTTGGAAAGGATAAGATATTATATCTCCCTTTTCTGACAAGGTGCTGTTTTCAGGGATTAATCTAGTATAAAGGCAATATAGTGGACTTGTGTGATGATTTAGAGTTAGTGGTGTAAGAAGTAGCTTCCTGCTATATATCAAGCATCAAATTGGCCACATATTTGAGATCATTGTCCAGAGTGTCTGTTTTCTTTCCTCTTTTGGCTTATGTCCTTTAAAAAGCAGAACTCCGAGAGTTAACATATCAAGAGATTCATTTCTGTATTCACCACACATACATAACATTAATTGATCGTAAGTGTTAATCTCAGTGTGACTCATTTGATTTCCTGTTGACATGCCATTTCTTGTCAGTTTTTGAAGAGGGCCTGCTTCTGCTCTTTTAAGAAGAGATAAAGCTTCTTGCTGTTGGCTATTATGGAAAACGTGGGAAAGAGATGGTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGTCCTTTTGTACCCTCCTAAAGTAATGGGTCTTAACCCTTTTGGATCCCAGATCCCTTTGACAATCTGATAACCTTGCTTTTGGGAAAATACACATATGTTCACATTTAAAATTTTGTGTTTTAATTTCATAAAGGCTTCCAATAATTGGTAATGTTTTGGTAATTCTATCAGAAGATCTTACTCTCTAATGAAGCTGGATAACACTTTTTGTTGTTTGGGTTTTTTTGGTCCTAAAGGTACTTCTCTTATTCTTTAAATGGTCCTTTGTAAATTTTTAAATTCTGCTAACTTTACTTTGGTAATCATACTTATCAAATGTGTGTTTAGACATTCTTTTTGATGGAAGGATAGGGTGGTATATATCATGTTGGAATTAAAATGGAGAGATTAAACAATAAGTAATAGTATAGTAATGTACAGTGTCATTCACACTTGAGAGAATTTGGATAAGTCTGAAAAACTGTTTTTGTTGTGTAGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGGTATGGCTAAATTAACATTATAATTAATTTACCAAATAGGTAATATTTTCTAGATGTATAAAATGATGTTCTTTCTTTTATACAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGCAGCTGTTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTACTGGATTCATTTTTGCCTTAGTTCTAAAAGAGAAGAGATTGTGTATGATAATTTCCTTTTATAGAAATTACTCTGATCATCTCCAGTGTCAGAATCTAGGATTTTGGAGCCCTTTAGCCATTTGTATGTTTCCTTGAATTGTCTTTGTGTTTTTGTTCATTCCCTTAATGCATAGAGGTGATTTCTAACCTTGCAGGAAATAAGGAAGGCATTATGGTGAAAGAGGGTATGTGTTTTTTTTTTTCCTTTTGAAGGAAATGGTCAAAGATAAAAGATTCCAAATGTGTATAACTTAGTGTCAAGATATTCTGAAAATTAATGTAATATTTAAACACTAGAATTACAGAAAAGAAGATCTGCTCACTAGTATGAAAATTTTTAATATTTTACATCTTTGGCTGTAGGCTGTAAGAAAAATCTGTATAATAGGTGATATTTATACAATTTGATTATGCTACTTTGGAATCAACGACCTATAGAAATGCTATGGATGACCCATTTTATTCAAAGTTACTCTATTCATATAATATTCATTTTTCCTAATAGTTTTGAGCAGTAATACAAATTTCAAGTTTATTCGTATCCTGTTAATACAAATAACTACATTTGTGTGGTGATGTATTACAGCATATCATTTATAAAGTGCCATACACAAACCACATACTATTTGATTCTGATGAGAATCACATAACCATTAAGCTGTGTTATATAATGGAAAATATTTTTGACTTAGAACTAAGACACCTGATTTTTCTCTGAACTTCCTCATTGGCAATGAAAGTTTTGAACCAGGTAGACCTCTTCTAATTATTAAGTTATGATTTCTGAGCGGTAGTGCTAGGACTGAATTCATTTCTAAATCAGTGCATTTTCTACTTGACTGACTATAACAGAGATTTTGTTGTACTTCATTCTTACCACTTTCTAAACTTAATTTGGTTATAACTCTTAGGCTAGACAATCATCTTTCTGAGAGAATAGGAATGTCCTCAATTTATCTAATAGAATCCTAAATGCAAATTTTAGATTTAGTTTATTGATATTTTATTTTATTTGCATTGTATAGTACTATAACACTGGTTTTTCCCTATGAAAAATATTATAAAGCAAGTTTAGTGAGTTACTATCCTGAGTAAACATAGGTGGTTATTTCTTCGATAAATTATGTATTTCTTGGGAAGTTACTTAACATTTTTTTAAATTAAAATAGCCAACTTTATAATGATTTAGGTATATGTTTCTAATTATAATGTTATTATTTTGAAAAAATCATATTTTTAGTAATGGTAAGCCTGTTGGAAATCTTGCTGAGTGGCACGTTAGCAGAGCAAAATAAAAATAAATAAGAAACTGAAAGTGAAAACATTTAAAAAATAAGACAGGCATGGTGGTGCATGCCTGTAGACCCAGGTACTCAGGATGTTGATGTGGGAGGATTGCTTGAGCTTAAGACCAGCCTGGGCAAGATGGTGAGACCCTATCTCTTAAAAAATATGTATTTATATATTGTCCTATTATATTTAGGGTTGGATTTGTGTGGGGGAAAGGCAGGAAGTGTAGGGTATAGGGAATAGACTCAAGATTCTTTGCACTTTACATTTGGGACTTTTATTTTAATGTTACTGCCCCTCCCCCCAACCCATGAAACACCTAACCTTACAACAAAAAATATCCAGAAGCTTAATAATTATTTATTTAACCGTCACTAAGGTGTAGGGAGATGTGCAGAATTCCAGGAAGGAGTCTTTTCCTAATTAGACAGTCAGAGCCTCATTCCAGATTTATTATTCCTTTGGTAGGGTTCCAGCATGTATATTTTGATAGAGAGCTCCCCAGATTCAGGGATACGTCCTTGATTCAGAACTGCCGAATGAAATAGCACAATTACTTTATCTGTCACAAGTGAGCCATGATTAGATGTCTTTTGAGAATATATTTCCTTTAGAATTCCTAATATGAGAAAGTTAACATAC | ACTAAGTGAAAGCTGGCATCCAAGTTGATTCAGACAAAAGTGAAAGTCAAGAAGTTAATAGTACATTAATTCTCCAAATGCATGCCAGCAGAGCGTGGCAGGAAGGTACACAAGTCAGCAGATCTGGGTTGTCCTGGTTCTCCTATTGACTCGTGTGTGTGATGTTAGGTGGGTGAATCTTGGCTTTGAATCTCCATTTGTAAAATAACTCTCCTGAAATAGAGATGGATAGGGTAGAATACCATATTTCTTAAGATCTTTTATAAGTTGATTCCATTGTTGTAAATTATGAATCCTAAAGTATTTCTTTATGAAAAATTTTTTAAGGCTATGATTTACTAAACTTTCTTAAAATTTTAAATTTTAGGGAAGACATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGAGCTTTATTTGTGGTAAGTAATTACTTAGATTTCTTTGGAAAGAAAAGACTTGGAAATTGGGGTAAATCCATTGTAAAAATCCAAAATATCTTAAATACCATTGTCTTTGATATATGATGGTCATCGTGAGAATTTACATACAGCTAATTGAATTTACTACATTTCAAAAGATGTTGGTTCCAGTTGAACCTCATGAGTTTAAATTAGTATCAGGAAAACTCTGGGAATAAGAATTTATTTCCAGTGAAATTACTGTGTGAGCCCTAACCTGATTCTCATCACACTTTGGGTTCTCAGTCATGTTGGCTTACTGAGAGTTTGGAGATTGTAACTTGTTGAATCCCAAAATGACACTAGTTTGAAACTCATGGATTTTAGTAATGTAGTAACTAGATTAGCAGCTGGTCTTTATATTTTTAGTTTCCGGAGTTTTAACTATAAATAGAAGTCTGTGAACTCCCCAGATTAGTTGCACAATTTGGAAAGGATAAGATATTATATCTCCCTTTTCTGACAAGGTGCTGTTTTCAGGGATTAATCTAGTATAAAGGCAATATAGTGGACTTGTGTGATGATTTAGAGTTAGTGGTGTAAGAAGTAGCTTCCTGCTATATATCAAGCATCAAATTGGCCACATATTTGAGATCATTGTCCAGAGTGTCTGTTTTCTTTCCTCTTTTGGCTTATGTCCTTTAAAAAGCAGAACTCCGAGAGTTAACATATCAAGAGATTCATTTCTGTATTCACCACACATACATAACATTAATTGATCGTAAGTGTTAATCTCAGTGTGACTCATTTGATTTCCTGTTGACATGCCATTTCTTGTCAGTTTTTGAAGAGGGCCTGCTTCTGCTCTTTTAAGAAGAGATAAAGCTTCTTGCTGTTGGCTATTATGGAAAACGTGGGAAAGAGATGGTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTAAGATGGTCCTTTTGTACCCTCCTAAAGTAATGGGTCTTAACCCTTTTGGATCCCAGATCCCTTTGACAATCTGATAACCTTGCTTTTGGGAAAATACACATATGTTCACATTTAAAATTTTGTGTTTTAATTTCATAAAGGCTTCCAATAATTGGTAATGTTTTGGTAATTCTATCAGAAGATCTTACTCTCTAATGAAGCTGGATAACACTTTTTGTTGTTTGGGTTTTTTTGGTCCTAAAGGTACTTCTCTTATTCTTTAAATGGTCCTTTGTAAATTTTTAAATTCTGCTAACTTTACTTTGGTAATCATACTTATCAAATGTGTGTTTAGACATTCTTTTTGATGGAAGGATAGGGTGGTATATATCATGTTGGAATTAAAATGGAGAGATTAAACAATAAGTAATAGTATAGTAATGTACAGTGTCATTCACACTTGAGAGAATTTGGATAAGTCTGAAAAACTGTTTTTGTTGTGTAGCACAGAGATACTCCTGAGAATAACCCTGATACTCCATTTGATTTCACACCAGAAAACTATAAGGTATGGCTAAATTAACATTATAATTAATTTACCAAATAGGTAATATTTTCTAGATGTATAAAATGATGTTCTTTCTTTTATACAGAGGATAGAGGCAATTGTAAAAAACTATCCAGAAGGCCATAAAGCAGTCTTCCAGTCCTGGATTTAGCCCAAAGGCAGAATGGGTGGTTGCCCATCTCTGCTATGAACAAGGTACTGGATTCATTTTTGCCTTAGTTCTAAAAGAGAAGAGATTGTGTATGATAATTTCCTTTTATAGAAATTACTCTGATCATCTCCAGTGTCAGAATCTAGGATTTTGGAGCCCTTTAGCCATTTGTATGTTTCCTTGAATTGTCTTTGTGTTTTTGTTCATTCCCTTAATGCATAGAGGTGATTTCTAACCTTGCAGGAAATAAGGAAGGCATTATGGTGAAAGAGGGTATGTGTTTTTTTTTTTCCTTTTGAAGGAAATGGTCAAAGATAAAAGATTCCAAATGTGTATAACTTAGTGTCAAGATATTCTGAAAATTAATGTAATATTTAAACACTAGAATTACAGAAAAGAAGATCTGCTCACTAGTATGAAAATTTTTAATATTTTACATCTTTGGCTGTAGGCTGTAAGAAAAATCTGTATAATAGGTGATATTTATACAATTTGATTATGCTACTTTGGAATCAACGACCTATAGAAATGCTATGGATGACCCATTTTATTCAAAGTTACTCTATTCATATAATATTCATTTTTCCTAATAGTTTTGAGCAGTAATACAAATTTCAAGTTTATTCGTATCCTGTTAATACAAATAACTACATTTGTGTGGTGATGTATTACAGCATATCATTTATAAAGTGCCATACACAAACCACATACTATTTGATTCTGATGAGAATCACATAACCATTAAGCTGTGTTATATAATGGAAAATATTTTTGACTTAGAACTAAGACACCTGATTTTTCTCTGAACTTCCTCATTGGCAATGAAAGTTTTGAACCAGGTAGACCTCTTCTAATTATTAAGTTATGATTTCTGAGCGGTAGTGCTAGGACTGAATTCATTTCTAAATCAGTGCATTTTCTACTTGACTGACTATAACAGAGATTTTGTTGTACTTCATTCTTACCACTTTCTAAACTTAATTTGGTTATAACTCTTAGGCTAGACAATCATCTTTCTGAGAGAATAGGAATGTCCTCAATTTATCTAATAGAATCCTAAATGCAAATTTTAGATTTAGTTTATTGATATTTTATTTTATTTGCATTGTATAGTACTATAACACTGGTTTTTCCCTATGAAAAATATTATAAAGCAAGTTTAGTGAGTTACTATCCTGAGTAAACATAGGTGGTTATTTCTTCGATAAATTATGTATTTCTTGGGAAGTTACTTAACATTTTTTTAAATTAAAATAGCCAACTTTATAATGATTTAGGTATATGTTTCTAATTATAATGTTATTATTTTGAAAAAATCATATTTTTAGTAATGGTAAGCCTGTTGGAAATCTTGCTGAGTGGCACGTTAGCAGAGCAAAATAAAAATAAATAAGAAACTGAAAGTGAAAACATTTAAAAAATAAGACAGGCATGGTGGTGCATGCCTGTAGACCCAGGTACTCAGGATGTTGATGTGGGAGGATTGCTTGAGCTTAAGACCAGCCTGGGCAAGATGGTGAGACCCTATCTCTTAAAAAATATGTATTTATATATTGTCCTATTATATTTAGGGTTGGATTTGTGTGGGGGAAAGGCAGGAAGTGTAGGGTATAGGGAATAGACTCAAGATTCTTTGCACTTTACATTTGGGACTTTTATTTTAATGTTACTGCCCCTCCCCCCAACCCATGAAACACCTAACCTTACAACAAAAAATATCCAGAAGCTTAATAATTATTTATTTAACCGTCACTAAGGTGTAGGGAGATGTGCAGAATTCCAGGAAGGAGTCTTTTCCTAATTAGACAGTCAGAGCCTCATTCCAGATTTATTATTCCTTTGGTAGGGTTCCAGCATGTATATTTTGATAGAGAGCTCCCCAGATTCAGGGATACGTCCTTGATTCAGAACTGCCGAATGAAATAGCACAATTACTTTATCTGTCACAAGTGAGCCATGATTAGATGTCTTTTGAGAATATATTTCCTTTAGAATTCCTAATATGAGAAAGTTAACATACNNNNNNN | pathogenic | 287,486 |
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