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 |
|---|---|---|---|---|---|
Determine if the mutation at chromosome 11, position 68780711 in gene CPT1A (carnitine palmitoyltransferase 1A) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | ACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATCGGGGCCATCTGGCTCTCTCCCCACCTTCTTCTCTCTAGGAGTGCTTGGC | ACCAGCCTGGGTGACAGAACAAGACGCCATCTCAAAAAAAAAAGTCAAAATTCAAAACATTCACAGAAGTTTAAAGAAAAAAGAAGGTCATACATTATGATGTCTTCACAAGTTTACTACTAATTTCTTTCTTTTTTTTTTGAGATGGAGTCTCACTCTTTCGTCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGTTCTCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACTACTAATTTCTAATTTCAGACACACAAACCCGGCTCCATGCCCTATCAAGAACAGCGAGGTGCTCAGCCTGCAGCTGGGCCCTGTCTCCCACACACGCCGTGACTTTCAGGTCATTTTATTCCACTTCATTTATTAGGCCAGCAGGAAAATTTAAAACACTGCAAAAAGATGGTCTTTATAGTCAATGTGAATCTCAAAGGGGCTTGTTGCTTTAAAAGAAAAAGATCTCAAGTCTCATCACAACAAGTGACCACAGTATTTTCTGTGTCAAGTCTACGGATGATGATCCTAGAATTTAGCAACTTTAAACAAGAACCTGACCGGTGAGTTAAGGAAACAAAACTTTCATTTAATTTCTCATGCCAAACACGGAACAGGTCAAACAGTTCAGAGTAACGAATTATTAAAAAAAAAAAAAAAAAAAAAAGGCTGAGTGTGGTGGCTCCCATCTGTAATCCCAGCACTTTGGGAGGCCCAGGCAGGCAGATCCCCTGTGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGGGAAACCTTGTTTCTACAAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAGTCCCAGCTACTTGGGAGGCTGGGGTGGGAGAATGTCTTGAGCCTGGGCGGTCAAGGCTACAGTGAGCTATGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATCGGGGCCATCTGGCTCTCTCCCCACCTTCTTCTCTCTAGGAGTGCTTGGCN | pathogenic | 179,958 |
Located at chromosome 11 position 68781794, the variant affecting gene CPT1A—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATCGGGGCCATCTGGCTCTCTCCCCACCTTCTTCTCTCTAGGAGTGCTTGGCTATGGCGGCCCGCAGGGCGAATAAGCCTAGAAACACGCTAGGCCTCAGTGCACCCCGCTCGGGGAACAAAGGTGACGCTGACGGTGGCCGGCACGTACGGAGCCCTTCCTGTGAATGACTCCCATGGGTAAGATGCTGATCTGGCCCTATCCAGAGGGGGCATCGGGACCGAGGCGCCTACAGACCCACAGGGAGCCCAGGCCCCGCGGCGCCGGCTCAGGCTCCCCACGTCTCCTCCGCTGGGGATTCCAGGCTCTGAGAGGAGGGCATCGGATGAGCGCATCTTCACCCGAGATGCATCTCCTGCCGCCGCTCTTTCCAGCCTTGTCAACACCACAGCAGATACCGAACAACGCCGGCTTGCCCGCACACATCCTCCTCCATCCCGCTCCTGCTCCCAGGCCTGGCCCTCTTTCAGGCCCTCACTACTTGGGCCACCGAAAAGCATCCCTGTGTCCAGGGCCCCTCCTCCCTGCCCAACCAGAAGAATCTCCCACATTAACCTACTCATGCACCCCCGGCCCCACCCCACCCTACACCACCTGAAGCGGCACCCAGTTGCAGAATCAAGCTCAAATATGATTGGGTGCCTGGGACCCTCCCCAGCTTGGCACCGTGGCCCAGCTGCCCAGCCCACTCCACGGCTCCTGCCTGCTCTGCTACCCCGGGGCATGCGGCTCCACCCCCTGGACACCCACTGTCCTCCTGGTCTGCTCCCACCCTCTGCAAGACACAGCCCACCTGCGGCCCCTCCACGCAGCACAGAACCTCTCCTGATCTTTGCAGAAGGGGCCCCAACACCTGCCCCTCCCGCCTTACTCCCAGCGATAGCGTAGCAGTTGTCACACTGCTGGAACGCAGCAGCTCTCAGCTGGGGACAACAGTGTCCCCCTGATGCTGGGCAATGTCTGCGACACTTCTGGTTGTCACACAGGTTGCTGCTGGCAGTCGGTGGGCAGAGGCCAGGGCTGCTGCTCAGCATCCAACGCTACACAGGGCAGTGCCCCCCACAAAGAGGTACCCGGCCCTGAGTGTGCACAGCTCTGAGGTGAGAAACCCTCCTATACAATACACACCACACCT | TGATTGTGCCACTGCACTCCAGTCTGGGTGACAGAGTAAGACCCTGTCTCAAAAAAAAAAAAAAAAACAATGGTAGAGGCCAATCCACAGGTGCAGGCAGGGGGACAGGGGTTTGTGGTTTTCAAATAACCTGGTAATTTTAAGAATTAAAATGATGTCTTAGGTAAAAGACACGCTGCATGTTTATAAACCCAGATTTTCACATGCTTGCTTCTATTTGGCCTAAAAAATGCGGTAGGTAGGAAACACTAGGAAATCCAGCACATAAGGGATAGTTTATTCCAGGAAAAACCGAGCTTCACTTCTGCTGTGAAGCTGCGGCCTGAGAGTCAACTGCCATTTCACTCTTTTGTTCCCTAAGGAGATGGCAGGAGATGCACTGCTGTTCAAGGGACCTAAGTTATGGGAAAGGAAGACAGGGATGCCTTTAATCTAGTGATTTAACTTCATGTGCATTACTAGTACAAGTGAAAAATTCATATTCTATAATCACGCAAATATTACAAAACTAAATTGACTGTGGGGTTTGGATTATCTTTTTTGTTTTTTCTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGTCTCCCGGGTTCAATCGATTTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATGCACCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGCGCCACTGCGCCTGGCCAGGTTTGGATTTTCAAAAGCAACTTCCACATTCAAGTGAAAAGTGTGAAAACTCACCTCCCAAAGGTGGGCCACGATCGGCGCATCTGCCCAGGAGTGTTCAGCGTTGAGGCCCATCTTCCCGTTTTTGAAGACAACAAACGTGAACGACTTGTCAAACCACCTACGTGAAACACACATGTGTGGAACTTAAGTGTTTAAAGAGGCAACAATGAGGAGACATTGCACCTCTCTGCTTCATCCTGGATGGACTAATTCACTTTGCACCTGTCCCTCTAACAGTGAGCAGACACTCAGTCTCTGTGGAGTGAGGGTGAAAGTACAAACAGGACACTGAATCACTCATTTCTTCCCTGTCCCAGACACAAAGATGAGCGCTTATATCCTGGCAGCCTGAAGTCAGGACCTGTTGTTATCGCAAGGCAACTGGGGAGAGGTGGGAGGCTCTTCCCGTGGGCACATGACCCCTTCATCAGCCAATCCTTGGCTCCACCCTGCAGGGGGCGGGGCTGGCCAACACTTTACAGATAAGAAAAAGAGGACTTGAGATAGCCACATGCCAACACCCTGGCCTAACCCTGTGCCTAGCCCTGTTTGCCACTCTCCCCTGCCTGAGTCCAGGGACCTGGCAGCCCTGCATCTCATGAGCATCTCCAAACAAAGGTGGTCATGCACAGAGGAGGGAAGAATCTCAGATTTGCAGCTCAGGCTGTGTATGTGTGATAGTTTTGGCAGAGGGAAGAAAACTGAAGGTTGGCCAGGCGCAGTGGCTCACATCTGTAATCTCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACTTGAGATCAGGAGTTCATAACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACACGCCTGTAATCCCAGCTACTTGGGAGGCTGAAGGAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCAAGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATTTCAAAAAATAAAATAAAATAAAACTGAAGGTTATATTTTTATGCCACCTTCTTTCTTAGCATTATAGATACTTAGGGGTGAGTGTCAGGCACACAGGGTATTTCTTCCAAGCTCATGGGCAAACTCCTGTCTCTCAGAAGGTAAGGACGGTACCTGTCGTAACATCGGCCGTGTAGTAAGAGATTTGGCGTAGCTGTCCATTGACGTATCCGGGTCTTCACTTCTGTATCCTTCTTCAGTTTCATCTAACGTCACAAAGAACGCTGCTTTCTCCACAGCATCAAGAGACTGCTTATTTTTCCCACGTCCAAAATAGGCCTGACGACACCTGGCCCAGGGAACTCTGCAGTGAAGATGAAATACGATTAAAGGCAGCCCGACCTGCAGCGATGGAGCGTGATGTTTGAAATGACACAATCAAACCTTTGCAGTTTTTCAGAATTTCTCGAAGGAAAACTCCATGTTGATGATGTTCCCCATCTGAGACTGTTTGCTGGAAGGACTCTCACCTGCTCCTGGTCTCCAGACCACAGCATGGGGAGCGGTGGGTATTTTTTGTTCAATAAATGCTGACTAAATGAACGGCCAGATTGCAGGCTGGCCCCGTGGGCAAAGCCGCCAGGAAGCAGCAGACCCAGATCACCCTGTTCCACGCTCCCTGACACACCCTCCCTCCCCTCTACAGGAACCACCCTAGGTAAGTTCCGGCAGCCCAGGTCACAGTAAGTGCGTAAGAGTGCGTCCCTCATGCCAGGCTCTGCTCCAAACCTTTTCTGTGTACCAACTTACTGATCTTCTCAATGCTACTGTACCTATTTTTCAGATGAGAAAACTGAAGCACGGAAAGATTAGGTCACAGCTATTTTGAGGCAGAGTCGGAACCCAGGCCATCAGCCCCCAGGTGCATTCCACAGATGCCCATGTGACCCCTCCACAAGGAGGTCTCCGTGCCCGTCTTATTTGAATACACAGAACTGGTGTGATGCCCACTTCCTTCTTGGAAGACCCACCAGCTGGGCTTCCTCGAGTGCTCCCGGGTCCCTCTCACTCCAGCTCCTCCAGGACCCTCTGCCACTGCCCACCCTTCCAGATCGGGGCCATCTGGCTCTCTCCCCACCTTCTTCTCTCTAGGAGTGCTTGGCTATGGCGGCCCGCAGGGCGAATAAGCCTAGAAACACGCTAGGCCTCAGTGCACCCCGCTCGGGGAACAAAGGTGACGCTGACGGTGGCCGGCACGTACGGAGCCCTTCCTGTGAATGACTCCCATGGGTAAGATGCTGATCTGGCCCTATCCAGAGGGGGCATCGGGACCGAGGCGCCTACAGACCCACAGGGAGCCCAGGCCCCGCGGCGCCGGCTCAGGCTCCCCACGTCTCCTCCGCTGGGGATTCCAGGCTCTGAGAGGAGGGCATCGGATGAGCGCATCTTCACCCGAGATGCATCTCCTGCCGCCGCTCTTTCCAGCCTTGTCAACACCACAGCAGATACCGAACAACGCCGGCTTGCCCGCACACATCCTCCTCCATCCCGCTCCTGCTCCCAGGCCTGGCCCTCTTTCAGGCCCTCACTACTTGGGCCACCGAAAAGCATCCCTGTGTCCAGGGCCCCTCCTCCCTGCCCAACCAGAAGAATCTCCCACATTAACCTACTCATGCACCCCCGGCCCCACCCCACCCTACACCACCTGAAGCGGCACCCAGTTGCAGAATCAAGCTCAAATATGATTGGGTGCCTGGGACCCTCCCCAGCTTGGCACCGTGGCCCAGCTGCCCAGCCCACTCCACGGCTCCTGCCTGCTCTGCTACCCCGGGGCATGCGGCTCCACCCCCTGGACACCCACTGTCCTCCTGGTCTGCTCCCACCCTCTGCAAGACACAGCCCACCTGCGGCCCCTCCACGCAGCACAGAACCTCTCCTGATCTTTGCAGAAGGGGCCCCAACACCTGCCCCTCCCGCCTTACTCCCAGCGATAGCGTAGCAGTTGTCACACTGCTGGAACGCAGCAGCTCTCAGCTGGGGACAACAGTGTCCCCCTGATGCTGGGCAATGTCTGCGACACTTCTGGTTGTCACACAGGTTGCTGCTGGCAGTCGGTGGGCAGAGGCCAGGGCTGCTGCTCAGCATCCAACGCTACACAGGGCAGTGCCCCCCACAAAGAGGTACCCGGCCCTGAGTGTGCACAGCTCTGAGGTGAGAAACCCTCCTATACAATACACACCACACC | pathogenic | 179,966 |
Located at chromosome 11 position 68799366, the variant affecting gene CPT1A (carnitine palmitoyltransferase 1A)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTTTAAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGCATTCCCACCTGGGCAACAGAGCAAGACCCTTTCTCAAATAAAAGAAAACAGAAACAAAGGCCAGGAGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGACTGAGGCGGGCTGATCACTTGAGGTTAGGAGTTCCGGACCTGCCTGGCCAACATGATGAAACCCCGTCTGTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGTGACGAGCGAGACTTTGTCTCAGAAACTAAAGAAAATAAAAGAAAACAAAGAAAAAACCAATGTTATGCAAAATTGCTCCACAGACTGCTTCCCAGGTCTGCCTGAAGAAGCCACCGTCCCAGTCCGTGGCACTAACCTGGTGTTCCGCAGGTGTTGTCTCTATTCCCTGGCACATGTGTCCTGAGGCCACCCAGAGGCAGTGCCCCCCAACCACCTCACAGCTGCTGTCCCTTCACAGCCTGCTGGACCCAGGGATCGCTTCCTTTCAGCTTTGTGCTGAAACACACGTACCTACAGAACAGTGCCCATGCAAGGGCCTCGTGTGCGGAGAGCTGTGCAGAGAGCTGACGTTTACCAGTCCAGCACACCGGTGCAGCCAGCGAATATGCCCGGCCCCCTGAGGCTAGAGAGACCCCTCCAGGCACTGCCCATCCACCCACCATGCCACGTCTAGCGCCACCTGCTGGTTCTGTCAGGGTCGCTTTGGACACCTTCTCTTCCGTGTTAGTTGTTCCTCAAAGCTAGACTCCCTCCCTTGCTTTGTCTGCCGGAGGCCTGCTCTTGCCCTCCCAGTACGTGGAAGCCCAGCCAGCTCCCCGCACACAGGGTGCCAGCTAAGACGCTTCGTTGGAGGAGATGCTCCTGGGACCACCGAGCCACACTCAACCCCAGGGAGGGGCGATCAGCACCGCCCTATCCCACACCATCCCTGCATCCACCAGCGAGCTCGGGAAGGATGCCCTTGGAATCAAGATAAACCAAAGAGGAGGATGGGAGCAGGTCTCTGGGGCAGCATGGCACTGCTGCAGGAGAAACAGCTCACGGGAGGACTCTCCGGGGAAGAGGGAGAGGGAGAAGCCTCCTGCGTGCAAAACACAGCATCGTGCTGGTGTACCTGCACTCAGGGTAAAACTGTCACTGTAGGCTGGGTGTGGTGGCTCATGCCTATGATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACTCTGTCTCTACAAAAAAATCCAAAAACCAAGAAACTGTCACTGTAACTACACGTCAGTCCTAACACACACACACTCCACTCTGCACAGAGGTAAAACTATAGCTGGAACTTCCTAGGGTGTGATTTTGGCTAATCCAAACTGTCATTTCAGCCCTGTTATCCCTGCCCCTCAAAATTAGCGTCTTCATACGGAAAAATTTCATCAAGAAAAACTGTGTATACAGACTTACGTAATTTGTAGCCCACCAGGATTTTAACTTCAAATACCACTGTAATCTTGGTCCAAGACCGACAGCAAAATCTTGAGCAAGTGCTGTCATCCGTTTGAAGTCTTCTTCCTTCATAAGAGGCCTCACCGACTGTAGATACTGGGATTATTGGGGGAAAAAAAAATCACCCAAGTTAAAACATATTAATCAAAGCCTATGTTTGCCTCACTTGTGCCTTAGGAAAAGTTCTAACACATTGAAAAGGTTTTAGGCTGGGCATGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGCCAGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTAAACAACATGGTGAAACCCCATCTCTACAAAAAAAAACAAGACAAAAATTAGCTGGACATGGTGGTGCATGTCTGTGGTCCCAGCTACCTGGGGGGCTGAGGTTGGGAGGATCGCTTGAGCCCAGAAGGTTGCGGCTGCAGTGAGCCATGATCATGCCACTGCAACCCAGCCTGGGCAACAGAGTGAGACCCTATCTCAAAAAAAAAAAAGAAAAAGTTTAGACTCTTCCCCCAAGTTGGTCTTGGCAGTCCTTAGACAGGTAAACTCCCTTCAATGCTAAATGGTGTCATAGGGTAATGATAATTTAACAATTAAACTTTTTCTTCCTTTATTAGCTTTAAAAGTGTCCCAAATCCTGCATCACCAGAAAATCACCATTAAATTTTTAGAATTTAAAATAAATTCTAGAGTTGACAAGAAAAGTTAACAAGGAAATTTCAAGAATGTCTCTTATCTATTATTTGGCCCTTAATAAAAGATCTGTTCTGACCTAAGTAAGTTTTGATGACCTGCGATGGTGACCATGAGATGGGGCAGAGTCATGCTGAGAGCTGGGTGCTGGGGCTGGGCAGGTGCTCAGGCAGCAGGATGGGAACGAGGGGCTGGAATAGGTCACGGAACCAGGCTAAGGCCAGTGCCCCAGGTTCAGGGTTTCCAGCCCCCACCCCGCCTCGTCCTTTTACATGTGCTACTTTGGTTGAACAAATGCTCAGAGGTGGAAACACAGAGAGCAATTGTTTAAAAAGACACTCAAAAGCTTCTGCTACACACCTAAGCAAGCTCTTACAGAAAGTAACAGTGGTCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGAGAGGCTGAGGTATGAAGAGTGCTTGAGCCCAAGCAATCTTGACCAGTTCAAGACCACCCTGGGCAACAGAGTGAGACCCCCCATCTCTGCAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTGATCCCAGCTACTTGGAAGGTTGAGGTGTGAGGATCACTTGGGCCCAGGAGTTCAAAGCTGCAGTGAGCCATGATCACACCACTGCATTCCAGCCTGGGTGAGATGCTGTTTCCCCCAGCAACAAAAAGTAAAACTGTTGCTAACCCCACAATTTGTCATGACATATTTTAATCCGACAAGTTGTTTGTCTGCTGTAAAAAACAAAGCTTGGTGCAACAGTAATCTCTCTATAGTCCCTCCCTGTACATTGAAAAGTAAGACCCCACTCCCTTAAAAGGGCCAGCTGTAGCTGGGCACGGTGGCTTATGCCTGTAACCCCAGCACTTTGGGAGGCTGAATCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAGAAAGTATTTGCAGGCATAGTGGTGCACACCTGTGGCCCCAACTACTTGGGAGGCTAAGGCAGGAGGATCACTCGGGCCCAGGAATTCAAGGTTGCAGTGAGCTAGGACGGTGCCACTGCATTCCAGCCTGGGCAAGAGAGTGAGACTCTGTCTCCAAAAAAAAGGGGGAGGGGGCAGGTGTCAAGCATCTTGAGGCTTATTCAAAGTAAAATGCCCGTGAATGAGACAGAAAATCATGCCCTGAATGAGCTGAAGTGGAACCCCGAGCTACGCAACACAGACAGAGGTCACTGAAGGTCAAGCATCTCTTGCTCACCCCATCCTGCCAGTGGAACAGGGGCCGTCATCAGCCCTGATTTGCAAGCGTGGGCACAGAAGAGGAGAGATGGGGTGGGCCAGGTATGGTAGCTTGTGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGCAGATCACTT | GTTTAAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGCATTCCCACCTGGGCAACAGAGCAAGACCCTTTCTCAAATAAAAGAAAACAGAAACAAAGGCCAGGAGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGACTGAGGCGGGCTGATCACTTGAGGTTAGGAGTTCCGGACCTGCCTGGCCAACATGATGAAACCCCGTCTGTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGTGACGAGCGAGACTTTGTCTCAGAAACTAAAGAAAATAAAAGAAAACAAAGAAAAAACCAATGTTATGCAAAATTGCTCCACAGACTGCTTCCCAGGTCTGCCTGAAGAAGCCACCGTCCCAGTCCGTGGCACTAACCTGGTGTTCCGCAGGTGTTGTCTCTATTCCCTGGCACATGTGTCCTGAGGCCACCCAGAGGCAGTGCCCCCCAACCACCTCACAGCTGCTGTCCCTTCACAGCCTGCTGGACCCAGGGATCGCTTCCTTTCAGCTTTGTGCTGAAACACACGTACCTACAGAACAGTGCCCATGCAAGGGCCTCGTGTGCGGAGAGCTGTGCAGAGAGCTGACGTTTACCAGTCCAGCACACCGGTGCAGCCAGCGAATATGCCCGGCCCCCTGAGGCTAGAGAGACCCCTCCAGGCACTGCCCATCCACCCACCATGCCACGTCTAGCGCCACCTGCTGGTTCTGTCAGGGTCGCTTTGGACACCTTCTCTTCCGTGTTAGTTGTTCCTCAAAGCTAGACTCCCTCCCTTGCTTTGTCTGCCGGAGGCCTGCTCTTGCCCTCCCAGTACGTGGAAGCCCAGCCAGCTCCCCGCACACAGGGTGCCAGCTAAGACGCTTCGTTGGAGGAGATGCTCCTGGGACCACCGAGCCACACTCAACCCCAGGGAGGGGCGATCAGCACCGCCCTATCCCACACCATCCCTGCATCCACCAGCGAGCTCGGGAAGGATGCCCTTGGAATCAAGATAAACCAAAGAGGAGGATGGGAGCAGGTCTCTGGGGCAGCATGGCACTGCTGCAGGAGAAACAGCTCACGGGAGGACTCTCCGGGGAAGAGGGAGAGGGAGAAGCCTCCTGCGTGCAAAACACAGCATCGTGCTGGTGTACCTGCACTCAGGGTAAAACTGTCACTGTAGGCTGGGTGTGGTGGCTCATGCCTATGATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACTCTGTCTCTACAAAAAAATCCAAAAACCAAGAAACTGTCACTGTAACTACACGTCAGTCCTAACACACACACACTCCACTCTGCACAGAGGTAAAACTATAGCTGGAACTTCCTAGGGTGTGATTTTGGCTAATCCAAACTGTCATTTCAGCCCTGTTATCCCTGCCCCTCAAAATTAGCGTCTTCATACGGAAAAATTTCATCAAGAAAAACTGTGTATACAGACTTACGTAATTTGTAGCCCACCAGGATTTTAACTTCAAATACCACTGTAATCTTGGTCCAAGACCGACAGCAAAATCTTGAGCAAGTGCTGTCATCCGTTTGAAGTCTTCTTCCTTCATAAGAGGCCTCACCGACTGTAGATACTGGGATTATTGGGGAAAAAAAAATCACCCAAGTTAAAACATATTAATCAAAGCCTATGTTTGCCTCACTTGTGCCTTAGGAAAAGTTCTAACACATTGAAAAGGTTTTAGGCTGGGCATGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGCCAGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTAAACAACATGGTGAAACCCCATCTCTACAAAAAAAAACAAGACAAAAATTAGCTGGACATGGTGGTGCATGTCTGTGGTCCCAGCTACCTGGGGGGCTGAGGTTGGGAGGATCGCTTGAGCCCAGAAGGTTGCGGCTGCAGTGAGCCATGATCATGCCACTGCAACCCAGCCTGGGCAACAGAGTGAGACCCTATCTCAAAAAAAAAAAAGAAAAAGTTTAGACTCTTCCCCCAAGTTGGTCTTGGCAGTCCTTAGACAGGTAAACTCCCTTCAATGCTAAATGGTGTCATAGGGTAATGATAATTTAACAATTAAACTTTTTCTTCCTTTATTAGCTTTAAAAGTGTCCCAAATCCTGCATCACCAGAAAATCACCATTAAATTTTTAGAATTTAAAATAAATTCTAGAGTTGACAAGAAAAGTTAACAAGGAAATTTCAAGAATGTCTCTTATCTATTATTTGGCCCTTAATAAAAGATCTGTTCTGACCTAAGTAAGTTTTGATGACCTGCGATGGTGACCATGAGATGGGGCAGAGTCATGCTGAGAGCTGGGTGCTGGGGCTGGGCAGGTGCTCAGGCAGCAGGATGGGAACGAGGGGCTGGAATAGGTCACGGAACCAGGCTAAGGCCAGTGCCCCAGGTTCAGGGTTTCCAGCCCCCACCCCGCCTCGTCCTTTTACATGTGCTACTTTGGTTGAACAAATGCTCAGAGGTGGAAACACAGAGAGCAATTGTTTAAAAAGACACTCAAAAGCTTCTGCTACACACCTAAGCAAGCTCTTACAGAAAGTAACAGTGGTCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGAGAGGCTGAGGTATGAAGAGTGCTTGAGCCCAAGCAATCTTGACCAGTTCAAGACCACCCTGGGCAACAGAGTGAGACCCCCCATCTCTGCAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTGATCCCAGCTACTTGGAAGGTTGAGGTGTGAGGATCACTTGGGCCCAGGAGTTCAAAGCTGCAGTGAGCCATGATCACACCACTGCATTCCAGCCTGGGTGAGATGCTGTTTCCCCCAGCAACAAAAAGTAAAACTGTTGCTAACCCCACAATTTGTCATGACATATTTTAATCCGACAAGTTGTTTGTCTGCTGTAAAAAACAAAGCTTGGTGCAACAGTAATCTCTCTATAGTCCCTCCCTGTACATTGAAAAGTAAGACCCCACTCCCTTAAAAGGGCCAGCTGTAGCTGGGCACGGTGGCTTATGCCTGTAACCCCAGCACTTTGGGAGGCTGAATCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAGAAAGTATTTGCAGGCATAGTGGTGCACACCTGTGGCCCCAACTACTTGGGAGGCTAAGGCAGGAGGATCACTCGGGCCCAGGAATTCAAGGTTGCAGTGAGCTAGGACGGTGCCACTGCATTCCAGCCTGGGCAAGAGAGTGAGACTCTGTCTCCAAAAAAAAGGGGGAGGGGGCAGGTGTCAAGCATCTTGAGGCTTATTCAAAGTAAAATGCCCGTGAATGAGACAGAAAATCATGCCCTGAATGAGCTGAAGTGGAACCCCGAGCTACGCAACACAGACAGAGGTCACTGAAGGTCAAGCATCTCTTGCTCACCCCATCCTGCCAGTGGAACAGGGGCCGTCATCAGCCCTGATTTGCAAGCGTGGGCACAGAAGAGGAGAGATGGGGTGGGCCAGGTATGGTAGCTTGTGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGCAGATCACTTN | benign | 180,005 |
Is chromosome 11, position 68799370, gene CPT1A (carnitine palmitoyltransferase 1A) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGCATTCCCACCTGGGCAACAGAGCAAGACCCTTTCTCAAATAAAAGAAAACAGAAACAAAGGCCAGGAGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGACTGAGGCGGGCTGATCACTTGAGGTTAGGAGTTCCGGACCTGCCTGGCCAACATGATGAAACCCCGTCTGTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGTGACGAGCGAGACTTTGTCTCAGAAACTAAAGAAAATAAAAGAAAACAAAGAAAAAACCAATGTTATGCAAAATTGCTCCACAGACTGCTTCCCAGGTCTGCCTGAAGAAGCCACCGTCCCAGTCCGTGGCACTAACCTGGTGTTCCGCAGGTGTTGTCTCTATTCCCTGGCACATGTGTCCTGAGGCCACCCAGAGGCAGTGCCCCCCAACCACCTCACAGCTGCTGTCCCTTCACAGCCTGCTGGACCCAGGGATCGCTTCCTTTCAGCTTTGTGCTGAAACACACGTACCTACAGAACAGTGCCCATGCAAGGGCCTCGTGTGCGGAGAGCTGTGCAGAGAGCTGACGTTTACCAGTCCAGCACACCGGTGCAGCCAGCGAATATGCCCGGCCCCCTGAGGCTAGAGAGACCCCTCCAGGCACTGCCCATCCACCCACCATGCCACGTCTAGCGCCACCTGCTGGTTCTGTCAGGGTCGCTTTGGACACCTTCTCTTCCGTGTTAGTTGTTCCTCAAAGCTAGACTCCCTCCCTTGCTTTGTCTGCCGGAGGCCTGCTCTTGCCCTCCCAGTACGTGGAAGCCCAGCCAGCTCCCCGCACACAGGGTGCCAGCTAAGACGCTTCGTTGGAGGAGATGCTCCTGGGACCACCGAGCCACACTCAACCCCAGGGAGGGGCGATCAGCACCGCCCTATCCCACACCATCCCTGCATCCACCAGCGAGCTCGGGAAGGATGCCCTTGGAATCAAGATAAACCAAAGAGGAGGATGGGAGCAGGTCTCTGGGGCAGCATGGCACTGCTGCAGGAGAAACAGCTCACGGGAGGACTCTCCGGGGAAGAGGGAGAGGGAGAAGCCTCCTGCGTGCAAAACACAGCATCGTGCTGGTGTACCTGCACTCAGGGTAAAACTGTCACTGTAGGCTGGGTGTGGTGGCTCATGCCTATGATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACTCTGTCTCTACAAAAAAATCCAAAAACCAAGAAACTGTCACTGTAACTACACGTCAGTCCTAACACACACACACTCCACTCTGCACAGAGGTAAAACTATAGCTGGAACTTCCTAGGGTGTGATTTTGGCTAATCCAAACTGTCATTTCAGCCCTGTTATCCCTGCCCCTCAAAATTAGCGTCTTCATACGGAAAAATTTCATCAAGAAAAACTGTGTATACAGACTTACGTAATTTGTAGCCCACCAGGATTTTAACTTCAAATACCACTGTAATCTTGGTCCAAGACCGACAGCAAAATCTTGAGCAAGTGCTGTCATCCGTTTGAAGTCTTCTTCCTTCATAAGAGGCCTCACCGACTGTAGATACTGGGATTATTGGGGGAAAAAAAAATCACCCAAGTTAAAACATATTAATCAAAGCCTATGTTTGCCTCACTTGTGCCTTAGGAAAAGTTCTAACACATTGAAAAGGTTTTAGGCTGGGCATGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGCCAGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTAAACAACATGGTGAAACCCCATCTCTACAAAAAAAAACAAGACAAAAATTAGCTGGACATGGTGGTGCATGTCTGTGGTCCCAGCTACCTGGGGGGCTGAGGTTGGGAGGATCGCTTGAGCCCAGAAGGTTGCGGCTGCAGTGAGCCATGATCATGCCACTGCAACCCAGCCTGGGCAACAGAGTGAGACCCTATCTCAAAAAAAAAAAAGAAAAAGTTTAGACTCTTCCCCCAAGTTGGTCTTGGCAGTCCTTAGACAGGTAAACTCCCTTCAATGCTAAATGGTGTCATAGGGTAATGATAATTTAACAATTAAACTTTTTCTTCCTTTATTAGCTTTAAAAGTGTCCCAAATCCTGCATCACCAGAAAATCACCATTAAATTTTTAGAATTTAAAATAAATTCTAGAGTTGACAAGAAAAGTTAACAAGGAAATTTCAAGAATGTCTCTTATCTATTATTTGGCCCTTAATAAAAGATCTGTTCTGACCTAAGTAAGTTTTGATGACCTGCGATGGTGACCATGAGATGGGGCAGAGTCATGCTGAGAGCTGGGTGCTGGGGCTGGGCAGGTGCTCAGGCAGCAGGATGGGAACGAGGGGCTGGAATAGGTCACGGAACCAGGCTAAGGCCAGTGCCCCAGGTTCAGGGTTTCCAGCCCCCACCCCGCCTCGTCCTTTTACATGTGCTACTTTGGTTGAACAAATGCTCAGAGGTGGAAACACAGAGAGCAATTGTTTAAAAAGACACTCAAAAGCTTCTGCTACACACCTAAGCAAGCTCTTACAGAAAGTAACAGTGGTCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGAGAGGCTGAGGTATGAAGAGTGCTTGAGCCCAAGCAATCTTGACCAGTTCAAGACCACCCTGGGCAACAGAGTGAGACCCCCCATCTCTGCAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTGATCCCAGCTACTTGGAAGGTTGAGGTGTGAGGATCACTTGGGCCCAGGAGTTCAAAGCTGCAGTGAGCCATGATCACACCACTGCATTCCAGCCTGGGTGAGATGCTGTTTCCCCCAGCAACAAAAAGTAAAACTGTTGCTAACCCCACAATTTGTCATGACATATTTTAATCCGACAAGTTGTTTGTCTGCTGTAAAAAACAAAGCTTGGTGCAACAGTAATCTCTCTATAGTCCCTCCCTGTACATTGAAAAGTAAGACCCCACTCCCTTAAAAGGGCCAGCTGTAGCTGGGCACGGTGGCTTATGCCTGTAACCCCAGCACTTTGGGAGGCTGAATCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAGAAAGTATTTGCAGGCATAGTGGTGCACACCTGTGGCCCCAACTACTTGGGAGGCTAAGGCAGGAGGATCACTCGGGCCCAGGAATTCAAGGTTGCAGTGAGCTAGGACGGTGCCACTGCATTCCAGCCTGGGCAAGAGAGTGAGACTCTGTCTCCAAAAAAAAGGGGGAGGGGGCAGGTGTCAAGCATCTTGAGGCTTATTCAAAGTAAAATGCCCGTGAATGAGACAGAAAATCATGCCCTGAATGAGCTGAAGTGGAACCCCGAGCTACGCAACACAGACAGAGGTCACTGAAGGTCAAGCATCTCTTGCTCACCCCATCCTGCCAGTGGAACAGGGGCCGTCATCAGCCCTGATTTGCAAGCGTGGGCACAGAAGAGGAGAGATGGGGTGGGCCAGGTATGGTAGCTTGTGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAGG | AAGAGACCAAATGGAAAGTAAATCATAAATGTCTGACTGCTAACATGTTTTAAAAACCAAAACTATGGGCTGGCCATGGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGTTGAGACAGGAAGATCGCTTGATGCCAGGAGTTTGAAGCCAGCCTGGGCAACATAGCAAGGTTCCATCTCTCCAAAAAATTTTAAGAAATTAGCCAGGTGTGGTGGCTCACGCCTGTAGTCTCAGCTACTTGGGAGGCTAAGACAGGAGGGTTACTTGAGCCCAGGGGTTCCAGGCAACAGTGAGCTATGATCGTGCCACTGCATTCCCACCTGGGCAACAGAGCAAGACCCTTTCTCAAATAAAAGAAAACAGAAACAAAGGCCAGGAGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGAGACTGAGGCGGGCTGATCACTTGAGGTTAGGAGTTCCGGACCTGCCTGGCCAACATGATGAAACCCCGTCTGTACTAAAAATGCAAAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGCTTGCAGTGAGCCGAGATCGCTCCACTGCACTCCAGCCTGGGTGACGAGCGAGACTTTGTCTCAGAAACTAAAGAAAATAAAAGAAAACAAAGAAAAAACCAATGTTATGCAAAATTGCTCCACAGACTGCTTCCCAGGTCTGCCTGAAGAAGCCACCGTCCCAGTCCGTGGCACTAACCTGGTGTTCCGCAGGTGTTGTCTCTATTCCCTGGCACATGTGTCCTGAGGCCACCCAGAGGCAGTGCCCCCCAACCACCTCACAGCTGCTGTCCCTTCACAGCCTGCTGGACCCAGGGATCGCTTCCTTTCAGCTTTGTGCTGAAACACACGTACCTACAGAACAGTGCCCATGCAAGGGCCTCGTGTGCGGAGAGCTGTGCAGAGAGCTGACGTTTACCAGTCCAGCACACCGGTGCAGCCAGCGAATATGCCCGGCCCCCTGAGGCTAGAGAGACCCCTCCAGGCACTGCCCATCCACCCACCATGCCACGTCTAGCGCCACCTGCTGGTTCTGTCAGGGTCGCTTTGGACACCTTCTCTTCCGTGTTAGTTGTTCCTCAAAGCTAGACTCCCTCCCTTGCTTTGTCTGCCGGAGGCCTGCTCTTGCCCTCCCAGTACGTGGAAGCCCAGCCAGCTCCCCGCACACAGGGTGCCAGCTAAGACGCTTCGTTGGAGGAGATGCTCCTGGGACCACCGAGCCACACTCAACCCCAGGGAGGGGCGATCAGCACCGCCCTATCCCACACCATCCCTGCATCCACCAGCGAGCTCGGGAAGGATGCCCTTGGAATCAAGATAAACCAAAGAGGAGGATGGGAGCAGGTCTCTGGGGCAGCATGGCACTGCTGCAGGAGAAACAGCTCACGGGAGGACTCTCCGGGGAAGAGGGAGAGGGAGAAGCCTCCTGCGTGCAAAACACAGCATCGTGCTGGTGTACCTGCACTCAGGGTAAAACTGTCACTGTAGGCTGGGTGTGGTGGCTCATGCCTATGATCCCAGCACTTTGGGAGGCCGAGGTGGGAGGATCACTTGAGCCCAGGAGTTTGAGACCAGCCTGGTCAACATAGTGAGACTCTGTCTCTACAAAAAAATCCAAAAACCAAGAAACTGTCACTGTAACTACACGTCAGTCCTAACACACACACACTCCACTCTGCACAGAGGTAAAACTATAGCTGGAACTTCCTAGGGTGTGATTTTGGCTAATCCAAACTGTCATTTCAGCCCTGTTATCCCTGCCCCTCAAAATTAGCGTCTTCATACGGAAAAATTTCATCAAGAAAAACTGTGTATACAGACTTACGTAATTTGTAGCCCACCAGGATTTTAACTTCAAATACCACTGTAATCTTGGTCCAAGACCGACAGCAAAATCTTGAGCAAGTGCTGTCATCCGTTTGAAGTCTTCTTCCTTCATAAGAGGCCTCACCGACTGTAGATACTGGGATTATTGGGGAGAAAAAAAAATCACCCAAGTTAAAACATATTAATCAAAGCCTATGTTTGCCTCACTTGTGCCTTAGGAAAAGTTCTAACACATTGAAAAGGTTTTAGGCTGGGCATGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGTCAAGGCCAGTGGATTGCTTGAGCTCAGGAGTTCAAGACCAGCCTAAACAACATGGTGAAACCCCATCTCTACAAAAAAAAACAAGACAAAAATTAGCTGGACATGGTGGTGCATGTCTGTGGTCCCAGCTACCTGGGGGGCTGAGGTTGGGAGGATCGCTTGAGCCCAGAAGGTTGCGGCTGCAGTGAGCCATGATCATGCCACTGCAACCCAGCCTGGGCAACAGAGTGAGACCCTATCTCAAAAAAAAAAAAGAAAAAGTTTAGACTCTTCCCCCAAGTTGGTCTTGGCAGTCCTTAGACAGGTAAACTCCCTTCAATGCTAAATGGTGTCATAGGGTAATGATAATTTAACAATTAAACTTTTTCTTCCTTTATTAGCTTTAAAAGTGTCCCAAATCCTGCATCACCAGAAAATCACCATTAAATTTTTAGAATTTAAAATAAATTCTAGAGTTGACAAGAAAAGTTAACAAGGAAATTTCAAGAATGTCTCTTATCTATTATTTGGCCCTTAATAAAAGATCTGTTCTGACCTAAGTAAGTTTTGATGACCTGCGATGGTGACCATGAGATGGGGCAGAGTCATGCTGAGAGCTGGGTGCTGGGGCTGGGCAGGTGCTCAGGCAGCAGGATGGGAACGAGGGGCTGGAATAGGTCACGGAACCAGGCTAAGGCCAGTGCCCCAGGTTCAGGGTTTCCAGCCCCCACCCCGCCTCGTCCTTTTACATGTGCTACTTTGGTTGAACAAATGCTCAGAGGTGGAAACACAGAGAGCAATTGTTTAAAAAGACACTCAAAAGCTTCTGCTACACACCTAAGCAAGCTCTTACAGAAAGTAACAGTGGTCAGGTGTGGTAGCTCACACCTGTAATCCCAGCACTTTGAGAGGCTGAGGTATGAAGAGTGCTTGAGCCCAAGCAATCTTGACCAGTTCAAGACCACCCTGGGCAACAGAGTGAGACCCCCCATCTCTGCAAAAAAAAAAAAAAAAAATACAAAAATTAGCTGGGTGCGGTGGCATGTGCCTGTGATCCCAGCTACTTGGAAGGTTGAGGTGTGAGGATCACTTGGGCCCAGGAGTTCAAAGCTGCAGTGAGCCATGATCACACCACTGCATTCCAGCCTGGGTGAGATGCTGTTTCCCCCAGCAACAAAAAGTAAAACTGTTGCTAACCCCACAATTTGTCATGACATATTTTAATCCGACAAGTTGTTTGTCTGCTGTAAAAAACAAAGCTTGGTGCAACAGTAATCTCTCTATAGTCCCTCCCTGTACATTGAAAAGTAAGACCCCACTCCCTTAAAAGGGCCAGCTGTAGCTGGGCACGGTGGCTTATGCCTGTAACCCCAGCACTTTGGGAGGCTGAATCAGGAGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAGACCCTGTCTCTACAAGAAAGTATTTGCAGGCATAGTGGTGCACACCTGTGGCCCCAACTACTTGGGAGGCTAAGGCAGGAGGATCACTCGGGCCCAGGAATTCAAGGTTGCAGTGAGCTAGGACGGTGCCACTGCATTCCAGCCTGGGCAAGAGAGTGAGACTCTGTCTCCAAAAAAAAGGGGGAGGGGGCAGGTGTCAAGCATCTTGAGGCTTATTCAAAGTAAAATGCCCGTGAATGAGACAGAAAATCATGCCCTGAATGAGCTGAAGTGGAACCCCGAGCTACGCAACACAGACAGAGGTCACTGAAGGTCAAGCATCTCTTGCTCACCCCATCCTGCCAGTGGAACAGGGGCCGTCATCAGCCCTGATTTGCAAGCGTGGGCACAGAAGAGGAGAGATGGGGTGGGCCAGGTATGGTAGCTTGTGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGTGGGCAGATCACTTGAG | benign | 180,006 |
The mutation impacting IGHMBP2 (immunoglobulin mu DNA binding protein 2) on chromosome 11 at position 68906222: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | CGTCCCCTGCTTGGCCACCTCCCGAGTTGTCAGTCTCATCACTTCCTGGGCAGCGCGTTCCGTTTGGGGACCCTTAAGAAGCACTTTGATTTCCCGACCCGAGACCCCCCACTAAGCTTACACTCCTGGGCCCTGGCCCCGACCCCAGTTCCACCCGCAGCGAGTTAGCAGCCCTTTCCCTTATTCATTCAGTAAACATGGTTTGCGCCCATTCTCAGTCAGGCCCCGGCAGCATGAGTCAGGTGCACTGGCTGCCCCCGATCCGGCCAGCGGCGGGCTGGGCATAAGCAGAGAGTCCCTTCCCCTCCAGTGCGTCCAGGGCCGGCTGCGTGCGTGTCGCGGGGAAAGAGCCTGGAGGAGGAAGGCCCTTCCCTGGGGAGGGTCATGGTGGCTTCAAGGAGGGAGTGGTGCCTGAAGGAAAATTGGAGTTAAGCTGGTGGGTGCGGAGTAGGGTGGGGAGCCGTCCTGAGAGGTGTGGGGAGCCATGTGAGAGCCGGGCTTGTTTCCGAATGGGACTATTTACTTGTCCAAAACAATCAGAGCTAACACTTACGTACTTTCCATGCGTTAATTCTTTTACACCTCATCCCATGCCAACCCTACAGTGTAAGTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTAGACAGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAGCTTCCATCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGGCTGGGACTACAGGCGCGCCACCACGTCCTGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGGTCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCGCAGTGTAGGTTTCTGTTACTGTCATTTTCCGTCTAAGGAGATGGAGACAGAGAGGGGTTAAGTAACTTGCCCCGGGGTGACACAGTGTAGCCCGATTTGCTGTCAGGCAGTCTGCTTCCAGAGTTTGCAGTCAGCCATATGTGGGTAGGATTTGTCTGAGATGCTTTTGATCATGGCAATGGAGAGCTTTTGCAGTTATGTTGAGTTTCTTAGAATCCCAGCTGTTTCATTTATGGCTGTGTGACTTTGCAGGTTCTGTCTCTGAGCCTTACTTACTTCATCTGTAAAACTGGGATGATTCCCACCTCACAGGCTTGCTCTGAGAATGAAACGATCCCCTGTCAGTCAGGTGCTCAGCGTGGTGCCAAGGACAGAGTCAGCCCCCATGGCAGTGGCTCTTTCTGAGGATGCTGAGCAGACTGGCAGGGCGAGCCTGGGAAGGGCCTGGCTAAGGAGCTAGTCTTCTGTTCTGTGTATGAAGGATGGGCCATCAGCGGGGTTAAGCAGGTGAGGGAGGCGAATAGCTTTGCATTTTAGGAGGATTTCTTGGGTCTCCTGCTTTTGATTGGACGTGGAGAGGCCAGAGGTAAGGTAGTTGAGAGGCTCTGTTTAGTCCAGGTGAGCAGTGATGTGGATTTGAACCGGGGCTGTGGCAGCCAGGATGAGAGGCAGAGAAGTCCAGGTAGAAATGGGAGGGGCCTGATAGGACTTAGTGACAGATGGGAGGAGAGAGGGGAATGCTGATTGAAAGATCTGTCTCAGGTAACTGAGAGAAGGGTTGTGGCATTAACTGCCCTAGGGGGATGTAGGAGGAGCGGGATTGGGAGTGGAGCCAATTCGGAGTTCCATTGGGACATATTTAGTGCCTGTGAGTAGATCTTTATCTATGTTTCTTTCTCTTTTACTTTTCCTGGGTGGGTGGAAGTAGAAACTAGTAAAAATCCTGAAGCATCAATACCGGGTGTCTTCCAGGTCCTGGCAGGAGAACATCTCTCTGAAAGAGCTCCAGAGCCGAGGCGTGTGTTTGCTGAAGCTGCAGGTATCCAGCCAGCGCACTGGGCTGTACGGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGTAACAGCTTTACTTCTGGTGTGTGCGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTACATGTTGAAATAATATTTTTCATATATTGGGTTAAATAAAAAATATCTTATTAAAATAATTTACCCATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCATGCGCCACCGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCAACTTCAGGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCAGCCTCTTTTAAATTTCTTAATATGGCTACTAGAAAACTTAAAACTACACGTGACTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGATCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTGCAAAAAAATAGAAAAATTAGCCAGATGTGGTGGTGTGTGCCTGTAGTTCCTGCTACTTGATGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAAATCACGCCACTGCACTCTAGCTTGGGGGCAAAGTGAGACCCTCTCTCAAAACAGACAAAAACAAAAGAAAAACTACATGTGACTCTCTTTATGTTTCTATGTAATGGGCAGCCTTGGTCCAGCTGGTAAACATGCAGGATGTGTACTTCTGTATTCCCAACCCTTTCTTGTGCCAAGCATGCTTTGGCTAAACTTGTGCCAGCCTGGTTGGAAAGGAGGGACAGTTAGAAGAAGCTTCTTAACCACACGCCTGGGATGCTTGTGTTAGACAACCACAGCCTTGGAAGCCTGGAGGAAGCAGCGTTGCCAGGGCTGTACTTTTTACTATGGAAGTGTCTCTGCCTTGTTTTGGTGGTGACGGAGTTTTAAATTTCATATTTTGATTTCGTAGACTTTAGCCCAACAATTACTGGAATACTGGCTGGATTTGGAGAAGATGAGATGAGGGTATTGAGAGAGGAGAGGGCCAGGAGGGGAACCTGTAGGTTGGAGTCAGACCTGAGCAGAGTTTGAGATTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCGCTCAGGCCGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAACTTACTTTCTTTTTTTTTTTTTAACTGTTACTGATTGCATTTACTAAAGAAAGTAACAAAGATAAAATATTTGAAGTATAGTGGATTTTATTACAGAAAATGATATTGAAGCTTTCCCCAGTGTCTTGTGTCACTGAGTCTTTGTTTTTGCAGGTGATATCGTGGGCCTGTACGATGCTGCTAATGAGGGCAGTCAGCTGGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGC | CGTCCCCTGCTTGGCCACCTCCCGAGTTGTCAGTCTCATCACTTCCTGGGCAGCGCGTTCCGTTTGGGGACCCTTAAGAAGCACTTTGATTTCCCGACCCGAGACCCCCCACTAAGCTTACACTCCTGGGCCCTGGCCCCGACCCCAGTTCCACCCGCAGCGAGTTAGCAGCCCTTTCCCTTATTCATTCAGTAAACATGGTTTGCGCCCATTCTCAGTCAGGCCCCGGCAGCATGAGTCAGGTGCACTGGCTGCCCCCGATCCGGCCAGCGGCGGGCTGGGCATAAGCAGAGAGTCCCTTCCCCTCCAGTGCGTCCAGGGCCGGCTGCGTGCGTGTCGCGGGGAAAGAGCCTGGAGGAGGAAGGCCCTTCCCTGGGGAGGGTCATGGTGGCTTCAAGGAGGGAGTGGTGCCTGAAGGAAAATTGGAGTTAAGCTGGTGGGTGCGGAGTAGGGTGGGGAGCCGTCCTGAGAGGTGTGGGGAGCCATGTGAGAGCCGGGCTTGTTTCCGAATGGGACTATTTACTTGTCCAAAACAATCAGAGCTAACACTTACGTACTTTCCATGCGTTAATTCTTTTACACCTCATCCCATGCCAACCCTACAGTGTAAGTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTAGACAGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAGCTTCCATCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGGCTGGGACTACAGGCGCGCCACCACGTCCTGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGGTCTGCCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCGCAGTGTAGGTTTCTGTTACTGTCATTTTCCGTCTAAGGAGATGGAGACAGAGAGGGGTTAAGTAACTTGCCCCGGGGTGACACAGTGTAGCCCGATTTGCTGTCAGGCAGTCTGCTTCCAGAGTTTGCAGTCAGCCATATGTGGGTAGGATTTGTCTGAGATGCTTTTGATCATGGCAATGGAGAGCTTTTGCAGTTATGTTGAGTTTCTTAGAATCCCAGCTGTTTCATTTATGGCTGTGTGACTTTGCAGGTTCTGTCTCTGAGCCTTACTTACTTCATCTGTAAAACTGGGATGATTCCCACCTCACAGGCTTGCTCTGAGAATGAAACGATCCCCTGTCAGTCAGGTGCTCAGCGTGGTGCCAAGGACAGAGTCAGCCCCCATGGCAGTGGCTCTTTCTGAGGATGCTGAGCAGACTGGCAGGGCGAGCCTGGGAAGGGCCTGGCTAAGGAGCTAGTCTTCTGTTCTGTGTATGAAGGATGGGCCATCAGCGGGGTTAAGCAGGTGAGGGAGGCGAATAGCTTTGCATTTTAGGAGGATTTCTTGGGTCTCCTGCTTTTGATTGGACGTGGAGAGGCCAGAGGTAAGGTAGTTGAGAGGCTCTGTTTAGTCCAGGTGAGCAGTGATGTGGATTTGAACCGGGGCTGTGGCAGCCAGGATGAGAGGCAGAGAAGTCCAGGTAGAAATGGGAGGGGCCTGATAGGACTTAGTGACAGATGGGAGGAGAGAGGGGAATGCTGATTGAAAGATCTGTCTCAGGTAACTGAGAGAAGGGTTGTGGCATTAACTGCCCTAGGGGGATGTAGGAGGAGCGGGATTGGGAGTGGAGCCAATTCGGAGTTCCATTGGGACATATTTAGTGCCTGTGAGTAGATCTTTATCTATGTTTCTTTCTCTTTTACTTTTCCTGGGTGGGTGGAAGTAGAAACTAGTAAAAATCCTGAAGCATCAATACCGGGTGTCTTCCAGGTCCTGGCAGGAGAACATCTCTCTGAAAGAGCTCCAGAGCCGAGGCGTGTGTTTGCTGAAGCTGCAGGTATCCAGCCAGCGCACTGGGCTGTACGGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGTACAGCTTTACTTCTGGTGTGTGCGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTACATGTTGAAATAATATTTTTCATATATTGGGTTAAATAAAAAATATCTTATTAAAATAATTTACCCATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCATGCGCCACCGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCAACTTCAGGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCAGCCTCTTTTAAATTTCTTAATATGGCTACTAGAAAACTTAAAACTACACGTGACTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGATCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTGCAAAAAAATAGAAAAATTAGCCAGATGTGGTGGTGTGTGCCTGTAGTTCCTGCTACTTGATGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAAATCACGCCACTGCACTCTAGCTTGGGGGCAAAGTGAGACCCTCTCTCAAAACAGACAAAAACAAAAGAAAAACTACATGTGACTCTCTTTATGTTTCTATGTAATGGGCAGCCTTGGTCCAGCTGGTAAACATGCAGGATGTGTACTTCTGTATTCCCAACCCTTTCTTGTGCCAAGCATGCTTTGGCTAAACTTGTGCCAGCCTGGTTGGAAAGGAGGGACAGTTAGAAGAAGCTTCTTAACCACACGCCTGGGATGCTTGTGTTAGACAACCACAGCCTTGGAAGCCTGGAGGAAGCAGCGTTGCCAGGGCTGTACTTTTTACTATGGAAGTGTCTCTGCCTTGTTTTGGTGGTGACGGAGTTTTAAATTTCATATTTTGATTTCGTAGACTTTAGCCCAACAATTACTGGAATACTGGCTGGATTTGGAGAAGATGAGATGAGGGTATTGAGAGAGGAGAGGGCCAGGAGGGGAACCTGTAGGTTGGAGTCAGACCTGAGCAGAGTTTGAGATTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCGCTCAGGCCGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAACTTACTTTCTTTTTTTTTTTTTAACTGTTACTGATTGCATTTACTAAAGAAAGTAACAAAGATAAAATATTTGAAGTATAGTGGATTTTATTACAGAAAATGATATTGAAGCTTTCCCCAGTGTCTTGTGTCACTGAGTCTTTGTTTTTGCAGGTGATATCGTGGGCCTGTACGATGCTGCTAATGAGGGCAGTCAGCTGGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCN | pathogenic | 180,047 |
Variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), chromosome 11, position 68908180—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | GCAGGTATCCAGCCAGCGCACTGGGCTGTACGGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGTAACAGCTTTACTTCTGGTGTGTGCGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTACATGTTGAAATAATATTTTTCATATATTGGGTTAAATAAAAAATATCTTATTAAAATAATTTACCCATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCATGCGCCACCGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCAACTTCAGGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCAGCCTCTTTTAAATTTCTTAATATGGCTACTAGAAAACTTAAAACTACACGTGACTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGATCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTGCAAAAAAATAGAAAAATTAGCCAGATGTGGTGGTGTGTGCCTGTAGTTCCTGCTACTTGATGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAAATCACGCCACTGCACTCTAGCTTGGGGGCAAAGTGAGACCCTCTCTCAAAACAGACAAAAACAAAAGAAAAACTACATGTGACTCTCTTTATGTTTCTATGTAATGGGCAGCCTTGGTCCAGCTGGTAAACATGCAGGATGTGTACTTCTGTATTCCCAACCCTTTCTTGTGCCAAGCATGCTTTGGCTAAACTTGTGCCAGCCTGGTTGGAAAGGAGGGACAGTTAGAAGAAGCTTCTTAACCACACGCCTGGGATGCTTGTGTTAGACAACCACAGCCTTGGAAGCCTGGAGGAAGCAGCGTTGCCAGGGCTGTACTTTTTACTATGGAAGTGTCTCTGCCTTGTTTTGGTGGTGACGGAGTTTTAAATTTCATATTTTGATTTCGTAGACTTTAGCCCAACAATTACTGGAATACTGGCTGGATTTGGAGAAGATGAGATGAGGGTATTGAGAGAGGAGAGGGCCAGGAGGGGAACCTGTAGGTTGGAGTCAGACCTGAGCAGAGTTTGAGATTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCGCTCAGGCCGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAACTTACTTTCTTTTTTTTTTTTTAACTGTTACTGATTGCATTTACTAAAGAAAGTAACAAAGATAAAATATTTGAAGTATAGTGGATTTTATTACAGAAAATGATATTGAAGCTTTCCCCAGTGTCTTGTGTCACTGAGTCTTTGTTTTTGCAGGTGATATCGTGGGCCTGTACGATGCTGCTAATGAGGGCAGTCAGCTGGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCTTGGACCGAGAGAATTCCTACAGACTGTTAAAACTTGCCAATGATGTCACTTACAGGCGACTGAAAAAGTAAGTGGATGGGACTGGAAATCCTAAGTACCATCTTCCTTCAACACAGCTAATCCATTCTTACATGCCTGTCGCACAAAAGAGAGCAACAAGTCATGGTGTGGGTGTGGCCCTCATGGGAGTTGGTGGCAGCATTGGGGCAGAGGCTCGGGCACTGAATTGCAGGTGTTCTAATTTTAGTTTTCTCCCTTGGCAGAGCCCTGATTGCTCTAAAGAAGTATCATTCTGGCCCAGCCTCCTCACTCATAGAAGTGCTCTTTGGCAGATCTGCTCCCAGTCCTGCCAGTGAAATACGTAAGAACTTCTGAGTTTTCTTTTTTGGTTGAAATCACTACTGAAAGTATAGAGAACAGTGTGACCTTGGGCCGTTTTAATAAGAGTTTGAGAAAGTATGACTAGAAGAAGTCTCCCTGAACATCTTTGTAGGAGTGTCTCGGAGGGCCTTGCATGAACTGGACCGTCCTCCTTGTACTCAGTCCTAATGAACTGGCTCGTTCCATTGAGGTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAAACTCCGCCTCCCGGGTTCAAGTGATTCTTTTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACGCCTGGCTAATTTCTGTACTTTTAGTAGAGATGAGGTTTCACCATATTGACCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCGCCTGGCCCCATTGAGTTTTTAGTTAAAAAAATTTTTTTTTGGCGGGGGGGGTGGAGGGGGGGGGCGGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTATAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTTGCCATCTTGGCCAGGCTGTTCTCAAACTCCTGATCTCAAGTGATCTACTCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCGTGCCTAGCCTCCATTGAGTTTTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTC | GCAGGTATCCAGCCAGCGCACTGGGCTGTACGGACGGCTGCTGGTCACCTTTGAGCCCAGGCGATACGGGTCCGCGGCAGCTCTTCCCAGTAACAGCTTTACTTCTGGTGTGTGCGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTACATGTTGAAATAATATTTTTCATATATTGGGTTAAATAAAAAATATCTTATTAAAATAATTTACCCATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCATGCGCCACCGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCAACTTCAGGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCAGCCTCTTTTAAATTTCTTAATATGGCTACTAGAAAACTTAAAACTACACGTGACTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGATCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTGCAAAAAAATAGAAAAATTAGCCAGATGTGGTGGTGTGTGCCTGTAGTTCCTGCTACTTGATGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAAATCACGCCACTGCACTCTAGCTTGGGGGCAAAGTGAGACCCTCTCTCAAAACAGACAAAAACAAAAGAAAAACTACATGTGACTCTCTTTATGTTTCTATGTAATGGGCAGCCTTGGTCCAGCTGGTAAACATGCAGGATGTGTACTTCTGTATTCCCAACCCTTTCTTGTGCCAAGCATGCTTTGGCTAAACTTGTGCCAGCCTGGTTGGAAAGGAGGGACAGTTAGAAGAAGCTTCTTAACCACACGCCTGGGATGCTTGTGTTAGACAACCACAGCCTTGGAAGCCTGGAGGAAGCAGCGTTGCCAGGGCTGTACTTTTTACTATGGAAGTGTCTCTGCCTTGTTTTGGTGGTGACGGAGTTTTAAATTTCATATTTTGATTTCGTAGACTTTAGCCCAACAATTACTGGAATACTGGCTGGATTTGGAGAAGATGAGATGAGGGTATTGAGAGAGGAGAGGGCCAGGAGGGGAACCTGTAGGTTGGAGTCAGACCTGAGCAGAGTTTGAGATTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCGCTCAGGCCGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAACTTACTTTCTTTTTTTTTTTTTAACTGTTACTGATTGCATTTACTAAAGAAAGTAACAAAGATAAAATATTTGAAGTATAGTGGATTTTATTACAGAAAATGATATTGAAGCTTTCCCCAGTGTCTTGTGTCACTGAGTCTTTGTTTTTGCAGGTGATATCGTGGGCCTGTACGATGCTGCTAATGAGATGCTGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCTTGGACCGAGAGAATTCCTACAGACTGTTAAAACTTGCCAATGATGTCACTTACAGGCGACTGAAAAAGTAAGTGGATGGGACTGGAAATCCTAAGTACCATCTTCCTTCAACACAGCTAATCCATTCTTACATGCCTGTCGCACAAAAGAGAGCAACAAGTCATGGTGTGGGTGTGGCCCTCATGGGAGTTGGTGGCAGCATTGGGGCAGAGGCTCGGGCACTGAATTGCAGGTGTTCTAATTTTAGTTTTCTCCCTTGGCAGAGCCCTGATTGCTCTAAAGAAGTATCATTCTGGCCCAGCCTCCTCACTCATAGAAGTGCTCTTTGGCAGATCTGCTCCCAGTCCTGCCAGTGAAATACGTAAGAACTTCTGAGTTTTCTTTTTTGGTTGAAATCACTACTGAAAGTATAGAGAACAGTGTGACCTTGGGCCGTTTTAATAAGAGTTTGAGAAAGTATGACTAGAAGAAGTCTCCCTGAACATCTTTGTAGGAGTGTCTCGGAGGGCCTTGCATGAACTGGACCGTCCTCCTTGTACTCAGTCCTAATGAACTGGCTCGTTCCATTGAGGTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAAACTCCGCCTCCCGGGTTCAAGTGATTCTTTTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACGCCTGGCTAATTTCTGTACTTTTAGTAGAGATGAGGTTTCACCATATTGACCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCGCCTGGCCCCATTGAGTTTTTAGTTAAAAAAATTTTTTTTTGGCGGGGGGGGTGGAGGGGGGGGGCGGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTATAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTTGCCATCTTGGCCAGGCTGTTCTCAAACTCCTGATCTCAAGTGATCTACTCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCGTGCCTAGCCTCCATTGAGTTTTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCNNNNNNN | pathogenic | 180,053 |
Is the genetic change at chromosome 11, position 68908294, within gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'IGHMBP2-related_disorder'] | CGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTACATGTTGAAATAATATTTTTCATATATTGGGTTAAATAAAAAATATCTTATTAAAATAATTTACCCATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCATGCGCCACCGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCAACTTCAGGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCAGCCTCTTTTAAATTTCTTAATATGGCTACTAGAAAACTTAAAACTACACGTGACTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGATCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTGCAAAAAAATAGAAAAATTAGCCAGATGTGGTGGTGTGTGCCTGTAGTTCCTGCTACTTGATGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAAATCACGCCACTGCACTCTAGCTTGGGGGCAAAGTGAGACCCTCTCTCAAAACAGACAAAAACAAAAGAAAAACTACATGTGACTCTCTTTATGTTTCTATGTAATGGGCAGCCTTGGTCCAGCTGGTAAACATGCAGGATGTGTACTTCTGTATTCCCAACCCTTTCTTGTGCCAAGCATGCTTTGGCTAAACTTGTGCCAGCCTGGTTGGAAAGGAGGGACAGTTAGAAGAAGCTTCTTAACCACACGCCTGGGATGCTTGTGTTAGACAACCACAGCCTTGGAAGCCTGGAGGAAGCAGCGTTGCCAGGGCTGTACTTTTTACTATGGAAGTGTCTCTGCCTTGTTTTGGTGGTGACGGAGTTTTAAATTTCATATTTTGATTTCGTAGACTTTAGCCCAACAATTACTGGAATACTGGCTGGATTTGGAGAAGATGAGATGAGGGTATTGAGAGAGGAGAGGGCCAGGAGGGGAACCTGTAGGTTGGAGTCAGACCTGAGCAGAGTTTGAGATTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCGCTCAGGCCGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAACTTACTTTCTTTTTTTTTTTTTAACTGTTACTGATTGCATTTACTAAAGAAAGTAACAAAGATAAAATATTTGAAGTATAGTGGATTTTATTACAGAAAATGATATTGAAGCTTTCCCCAGTGTCTTGTGTCACTGAGTCTTTGTTTTTGCAGGTGATATCGTGGGCCTGTACGATGCTGCTAATGAGGGCAGTCAGCTGGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCTTGGACCGAGAGAATTCCTACAGACTGTTAAAACTTGCCAATGATGTCACTTACAGGCGACTGAAAAAGTAAGTGGATGGGACTGGAAATCCTAAGTACCATCTTCCTTCAACACAGCTAATCCATTCTTACATGCCTGTCGCACAAAAGAGAGCAACAAGTCATGGTGTGGGTGTGGCCCTCATGGGAGTTGGTGGCAGCATTGGGGCAGAGGCTCGGGCACTGAATTGCAGGTGTTCTAATTTTAGTTTTCTCCCTTGGCAGAGCCCTGATTGCTCTAAAGAAGTATCATTCTGGCCCAGCCTCCTCACTCATAGAAGTGCTCTTTGGCAGATCTGCTCCCAGTCCTGCCAGTGAAATACGTAAGAACTTCTGAGTTTTCTTTTTTGGTTGAAATCACTACTGAAAGTATAGAGAACAGTGTGACCTTGGGCCGTTTTAATAAGAGTTTGAGAAAGTATGACTAGAAGAAGTCTCCCTGAACATCTTTGTAGGAGTGTCTCGGAGGGCCTTGCATGAACTGGACCGTCCTCCTTGTACTCAGTCCTAATGAACTGGCTCGTTCCATTGAGGTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAAACTCCGCCTCCCGGGTTCAAGTGATTCTTTTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACGCCTGGCTAATTTCTGTACTTTTAGTAGAGATGAGGTTTCACCATATTGACCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCGCCTGGCCCCATTGAGTTTTTAGTTAAAAAAATTTTTTTTTGGCGGGGGGGGTGGAGGGGGGGGGCGGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTATAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTTGCCATCTTGGCCAGGCTGTTCTCAAACTCCTGATCTCAAGTGATCTACTCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCGTGCCTAGCCTCCATTGAGTTTTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCTGCATTTTCCTTTGGAAATTCTAAATGCAGTCACATTTCAGTAATGCTTTATTTCTATGAAATATTTACTGAAGGGCTCCTATGCGTCACAAACTGAATTAGAAATGTATTTAC | CGTATTGACCTAGACAGACATTGAAATTTACTGGCATTCAGACCGTGACTTGTACCCTCGTAAAGACTGGATTAAAATGACCAGTTGGAGAATAAAGCGTTGCAATGAAGAACTCTTAATCAGAAGTCCAACAATTGATGTGGGTTTTAGTTGTCTAGATCAGCGTTGTCCAAAATGGTAGCCATTAGCCATGCGTGGTCATCAAATGTTTGAAGTGTGGCTTGTAATTGCCGCAGATACAGAATACACACCAAATTTGGAAGATTATGTTAAAAAAACAATTGGGAATATCTTGAGTAATTTTTCTGAATACTGATTACATGTTGAAATAATATTTTTCATATATTGGGTTAAATAAAAAATATCTTATTAAAATAATTTACCCATTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCCCAGTCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCGGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTAGAGGCATGCGCCACCGTGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGTTCAGGCTGGTCTCGAACTCCCAACTTCAGGTGATCCGCCTGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAGTGCACCCAGCCTCTTTTAAATTTCTTAATATGGCTACTAGAAAACTTAAAACTACACGTGACTGGGTGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGTGGATCACTTGATCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCCATCTCTGCAAAAAAATAGAAAAATTAGCCAGATGTGGTGGTGTGTGCCTGTAGTTCCTGCTACTTGATGGGCTGAGGCAGGAGGATCGCTTGAACCTGGGAGGTTGAGGCTGCAGTGAGCTGAAATCACGCCACTGCACTCTAGCTTGGGGGCAAAGTGAGACCCTCTCTCAAAACAGACAAAAACAAAAGAAAAACTACATGTGACTCTCTTTATGTTTCTATGTAATGGGCAGCCTTGGTCCAGCTGGTAAACATGCAGGATGTGTACTTCTGTATTCCCAACCCTTTCTTGTGCCAAGCATGCTTTGGCTAAACTTGTGCCAGCCTGGTTGGAAAGGAGGGACAGTTAGAAGAAGCTTCTTAACCACACGCCTGGGATGCTTGTGTTAGACAACCACAGCCTTGGAAGCCTGGAGGAAGCAGCGTTGCCAGGGCTGTACTTTTTACTATGGAAGTGTCTCTGCCTTGTTTTGGTGGTGACGGAGTTTTAAATTTCATATTTTGATTTCGTAGACTTTAGCCCAACAATTACTGGAATACTGGCTGGATTTGGAGAAGATGAGATGAGGGTATTGAGAGAGGAGAGGGCCAGGAGGGGAACCTGTAGGTTGGAGTCAGACCTGAGCAGAGTTTGAGATTTTTTTTTTCTGAGATGGAGTCTCACTCTGTCGCTCAGGCCGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGTGCCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGCTTTCACTGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCCACCTCTGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGTGCCCGGCCTAACTTACTTTCTTTTTTTTTTTTTAACTGTTACTGATTGCATTTACTAAAGAAAGTAACAAAGATAAAATATTTGAAGTATAGTGGATTTTATTACAGAAAATGATATTGAAGCTTTCCCCAGTGTCTTGTGTCACTGAGTCTTTGTTTTTGCAGGTGATATCGTGGGCCTGTACGATGCTGCTAATGAGGGCAGTCAGCTGGCCACTGGGATCTTGACCCGGGTCACCCAGAAGTCGGTCACGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCTTGGACCGAGAGAATTCCTACAGACTTAAAACTTGCCAATGATGTCACTTACAGGCGACTGAAAAAGTAAGTGGATGGGACTGGAAATCCTAAGTACCATCTTCCTTCAACACAGCTAATCCATTCTTACATGCCTGTCGCACAAAAGAGAGCAACAAGTCATGGTGTGGGTGTGGCCCTCATGGGAGTTGGTGGCAGCATTGGGGCAGAGGCTCGGGCACTGAATTGCAGGTGTTCTAATTTTAGTTTTCTCCCTTGGCAGAGCCCTGATTGCTCTAAAGAAGTATCATTCTGGCCCAGCCTCCTCACTCATAGAAGTGCTCTTTGGCAGATCTGCTCCCAGTCCTGCCAGTGAAATACGTAAGAACTTCTGAGTTTTCTTTTTTGGTTGAAATCACTACTGAAAGTATAGAGAACAGTGTGACCTTGGGCCGTTTTAATAAGAGTTTGAGAAAGTATGACTAGAAGAAGTCTCCCTGAACATCTTTGTAGGAGTGTCTCGGAGGGCCTTGCATGAACTGGACCGTCCTCCTTGTACTCAGTCCTAATGAACTGGCTCGTTCCATTGAGGTTTTTTTTTTTTTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATTGCAAACTCCGCCTCCCGGGTTCAAGTGATTCTTTTGCCTCAACCTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACGCCTGGCTAATTTCTGTACTTTTAGTAGAGATGAGGTTTCACCATATTGACCAGGCTGGTCTCGAACTCCTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCGCCTGGCCCCATTGAGTTTTTAGTTAAAAAAATTTTTTTTTGGCGGGGGGGGTGGAGGGGGGGGGCGGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTATAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGCTCAAGTGATTCTCATGCCTCAGCCTCCTGAATAGCTGGGATTACAGGCACACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTGGAGACAGGGTTTTGCCATCTTGGCCAGGCTGTTCTCAAACTCCTGATCTCAAGTGATCTACTCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCTACCGTGCCTAGCCTCCATTGAGTTTTAAAATAATGTTCTTTTTAGTGTATATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCTGCATTTTCCTTTGGAAATTCTAAATGCAGTCACATTTCAGTAATGCTTTATTTCTATGAAATATTTACTGAAGGGCTCCTATGCGTCACAAACTGAATTAGAAATGTATTTACNN | pathogenic | 180,059 |
Considering the variant on chromosome 11, location 68911565, involving gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | ATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCTGCATTTTCCTTTGGAAATTCTAAATGCAGTCACATTTCAGTAATGCTTTATTTCTATGAAATATTTACTGAAGGGCTCCTATGCGTCACAAACTGAATTAGAAATGTATTTACTGTGTCTTAGGGACTCTGGAATGGCTTGGCTAGAGCACGGGAACGTGGGGTTCAATGGCCTGTTACTAGCTGCACACCCTGCCGTCTTCCATGTTGGCTTCAGTCTCACAAGTCAGGGTCAGCAAACACCCTTTGCTTATGAGCTGCTCCTTATCCGATAGGCGTCTCTGTGTAGTGGGCACCATGTAGCGAATGCCATGGCTGCAGGGCTGAGCACAGCACCACCTGCTCTCAAGAGCACAGCATAAGAAGCAGGTCTTGGCCAGGCGCGGTGGCTCACACCTTTAGTCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACACGGTGAATCCCCGTCTCTACTAACAACACAAAAAATTAGCTGGGCATGGTGGCACTCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGCAGATCTTTAGTCTTGGTCGTGGAAGATTCAAAATAGAAACACGATCCTAGAATTTGTTAATCATTGTTTTTGTCATTTGTCTTTATCATTTTATGGGCACTTTAAAGAGGGACATTATGTTAGAAAGGAATATGCTCTAGGAAACATTTCCTTCATTCCTGTTACTCTAGAGCAGGGGTTTTTCCTGTAAAGGGATGGATTGTGAATGTTTTGACTCTGTGGGCCATATCATACGTACCGTCTACAGCTGCCTGCTGTAGACGGTATGTAAATCAATGGGTGTGGCTGTGCTCCAGTAAAACTCACCAAAACCGGCAGCTGACTGGATGTGGCCCACAGTTTGCCGATTCCTGTTCAAGGAGAAACCTTGTGAAAATAAAGCAGACTTAATTTTGTGTTGATTGGGTTGCCCCTGGGGAGGTCCGGCGTGTTCCTGACAGGCATCACTCATCCCCCGGGGCACACACTCTCTGAGGAGGAACACCCACAGAGCTCCCCAGAGCACCTGAGCCTCACGCTGCTGCTTCTTCCACAGACCCGCTGACATTCTTCAACACCTGCCTGGACACCTCCCAGAAAGAAGCGGTTTTATTTGCGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCCTGGCACTGGGAAAACCACGACTGTGGTTGAGATCATTCTTCAAGCTGTGAAACAAGGCTTAAAGGTGGGCAGTGCATGCCACTTCCCTGTCAGAGCCCGTCCGCTCCTGGTCTGTTGTGTTCAGTGGGTGCTCAGCGACCTTTCAGCCTCAGTTCTGGTGGGATGGGTCAGGAACATTACTGAGCATTTATTGATTGAGCCTTGGACTGCCCCTGTTTGATTTCCAGCATCCCCGTGAGTCTTGGGGAGCACGCGCAGGAGCCGTAGCCTGGGTTGTTGAGGAAGGCTCCTGGAGCCCTTTGAGGCGTGGCAGCCTTCGTGTCGGCCAGGCCCTGGGTCAGGGTTTATTTGTTCACCACGCTTGCTGTGCTCGTGCTCCTCCGTGTGCACGCCCGTGCAGGGGCCTGGAGTTGGCCTGGGCCCGGTCTGTGCCCGTCAGGAGCTCAGCGTCTGGTTGAGGTGTTAACAGCTAATCAGATAGTCTGGTTAATGGATACGATGCACATGTCCAGTGCACAGATGAATGATTTTCTGAGATGTGGAATATAACATTGTACATTATTATTCACTTACATTTTAAATTTTTTTTATTTTTATTTTTTGGAGACGGAGCCTCACTCTGTCACCCAGGCTAGAGTCTGGAGTGCAGGGGCGGGATCTTGGCTCCCTGCAACCTCCGCCTCCCGGGTTTAAGTGATTCTCCTACCTCAGCCTCCCGAACAGCTGGGATTATAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGTCTGGTCTCACTCCTGACTTCAGTTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTACGATTACAGGCATGAGCCACTGTGCCCGGCCCAGTTACATTTTTAATGGCTGAAAAAGGATCTTTTATCATCATCTGCATCAGCTTGAGTCATTGTGGATCTTGGCACATGGAGAGTTTTTTTTTTTTTAATTTATTTATTTATTTTTAATTATACTTTAAGTTCTAGAGCTTTTTGAAAAAACTTTCTGGTTTATAAAAATGTTGGATAATGATGAGAATTGGAATAATGGCCAGTTTTGTAGTTTGATGTTTACTGGGTGCTGCCTACCACCAGGCATCGTTCTGAGCACCCATTTAATCCTCACTGAAACCCTGTGCCAAGGCAGGTGGTTAGTGGCCCCAGTTTGTAGACAAGGAAGCCGGGTGTGGTGGCTCACACCTGTATTCTCAGTACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCG | ATAAATCTTTTATTTTGAAATGTAATGATATTTCTTTTAGCTTAGTACTTTGTGAAAATAGAGGAAAGCTGATCATACTTTATGCTTGATAGCAATTTTAGGTTGGAAAAATCTTTTTTTTTTTTTTTTGAGACGGAGACTTGCTCTGTCACCAAGAGTGGGGTGCAGTGGTGCGACCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTGTATTTTTTAGTAGAGACAACATGGTTTCACCATGTTGGTCGGGCCGGTCTTGAACTCCTGACCTCAGGTGATCTACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCGGTCTGTGCACTTTTTATGTCCTTTGCTGTTCTTGGAGAACGTCATTTTTGGGAGGAGTTTGTTGTCTCATCCAGTCACTGCCCATGATTTAACAGTCCTGTGAGTATTGGACTTGGCCCATTTGTAAAGCGGTGGCTTTGGCCAAGCCTCATGCAAGGGTTACCCCACAGCTATTTTCTATCATACTGTGCTAGGCAAGCCAGTGTTGTGTTAGCTTCAAACACACAGGACGACTTTGTAGCACTCTTTCAGCATGCAGTCCCTCAAGATGTGTTGTTTTTAAATACTCATTTTCTTTCTGCATTTTCCTTTGGAAATTCTAAATGCAGTCACATTTCAGTAATGCTTTATTTCTATGAAATATTTACTGAAGGGCTCCTATGCGTCACAAACTGAATTAGAAATGTATTTACTGTGTCTTAGGGACTCTGGAATGGCTTGGCTAGAGCACGGGAACGTGGGGTTCAATGGCCTGTTACTAGCTGCACACCCTGCCGTCTTCCATGTTGGCTTCAGTCTCACAAGTCAGGGTCAGCAAACACCCTTTGCTTATGAGCTGCTCCTTATCCGATAGGCGTCTCTGTGTAGTGGGCACCATGTAGCGAATGCCATGGCTGCAGGGCTGAGCACAGCACCACCTGCTCTCAAGAGCACAGCATAAGAAGCAGGTCTTGGCCAGGCGCGGTGGCTCACACCTTTAGTCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACACGGTGAATCCCCGTCTCTACTAACAACACAAAAAATTAGCTGGGCATGGTGGCACTCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGATGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAGCAGATCTTTAGTCTTGGTCGTGGAAGATTCAAAATAGAAACACGATCCTAGAATTTGTTAATCATTGTTTTTGTCATTTGTCTTTATCATTTTATGGGCACTTTAAAGAGGGACATTATGTTAGAAAGGAATATGCTCTAGGAAACATTTCCTTCATTCCTGTTACTCTAGAGCAGGGGTTTTTCCTGTAAAGGGATGGATTGTGAATGTTTTGACTCTGTGGGCCATATCATACGTACCGTCTACAGCTGCCTGCTGTAGACGGTATGTAAATCAATGGGTGTGGCTGTGCTCCAGTAAAACTCACCAAAACCGGCAGCTGACTGGATGTGGCCCACAGTTTGCCGATTCCTGTTCAAGGAGAAACCTTGTGAAAATAAAGCAGACTTAATTTTGTGTTGATTGGGTTGCCCCTGGGGAGGTCCGGCGTGTTCCTGACAGGCATCACTCATCCCCCGGGGCACACACTCTCTGAGGAGGAACACCCACAGAGCTCCCCAGAGCACCTGAGCCTCACGCTGCTGCTTCTTCCACAGACCCGCTGACATTCTTCAACACCTGCCTGGACACCTCCCAGAAAGAAGCGGTTTTATTTGCGCTGTCTCAGAAAGAACTTGCCATCATCCATGGACCTCCTGGCACTGGGAAAACCACGACTGTGGTGAGATCATTCTTCAAGCTGTGAAACAAGGCTTAAAGGTGGGCAGTGCATGCCACTTCCCTGTCAGAGCCCGTCCGCTCCTGGTCTGTTGTGTTCAGTGGGTGCTCAGCGACCTTTCAGCCTCAGTTCTGGTGGGATGGGTCAGGAACATTACTGAGCATTTATTGATTGAGCCTTGGACTGCCCCTGTTTGATTTCCAGCATCCCCGTGAGTCTTGGGGAGCACGCGCAGGAGCCGTAGCCTGGGTTGTTGAGGAAGGCTCCTGGAGCCCTTTGAGGCGTGGCAGCCTTCGTGTCGGCCAGGCCCTGGGTCAGGGTTTATTTGTTCACCACGCTTGCTGTGCTCGTGCTCCTCCGTGTGCACGCCCGTGCAGGGGCCTGGAGTTGGCCTGGGCCCGGTCTGTGCCCGTCAGGAGCTCAGCGTCTGGTTGAGGTGTTAACAGCTAATCAGATAGTCTGGTTAATGGATACGATGCACATGTCCAGTGCACAGATGAATGATTTTCTGAGATGTGGAATATAACATTGTACATTATTATTCACTTACATTTTAAATTTTTTTTATTTTTATTTTTTGGAGACGGAGCCTCACTCTGTCACCCAGGCTAGAGTCTGGAGTGCAGGGGCGGGATCTTGGCTCCCTGCAACCTCCGCCTCCCGGGTTTAAGTGATTCTCCTACCTCAGCCTCCCGAACAGCTGGGATTATAGGCGTGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCACATTGGCCAGTCTGGTCTCACTCCTGACTTCAGTTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTACGATTACAGGCATGAGCCACTGTGCCCGGCCCAGTTACATTTTTAATGGCTGAAAAAGGATCTTTTATCATCATCTGCATCAGCTTGAGTCATTGTGGATCTTGGCACATGGAGAGTTTTTTTTTTTTTAATTTATTTATTTATTTTTAATTATACTTTAAGTTCTAGAGCTTTTTGAAAAAACTTTCTGGTTTATAAAAATGTTGGATAATGATGAGAATTGGAATAATGGCCAGTTTTGTAGTTTGATGTTTACTGGGTGCTGCCTACCACCAGGCATCGTTCTGAGCACCCATTTAATCCTCACTGAAACCCTGTGCCAAGGCAGGTGGTTAGTGGCCCCAGTTTGTAGACAAGGAAGCCGGGTGTGGTGGCTCACACCTGTATTCTCAGTACTTTGGGAGGCTGAGGCGGGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCCGGGTGTGGTGGCACACACCTGCAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAACTGAGATCGCACCATTGCACTCCAGCCTGGGCAATAAGAGCAAAACTCCATCTCCAAAAAAAAAAAAAAAAAAAAAAAAACCAAAAAAACCACGAGGAAACTGAGAAACAAGGTCAAATGCCCAGCACTCAGAGTGGCAGAGCCAGCAATGGAACTCGGGCAGAGCGCAGGGAAGCCTGTCACTTGCTTAAAAGATTACGTCCAGCGGTTTTCCAATGTGTGAGTGTCTTTGCACATGTTTGAAAACTGGTAAGAAAAGATGACTTATTGGAAGGGAGCAGATTGGTGGTTTTAATTGGGTGCCGACTATTCACTAAAAGTGAGCCAAGACACACCTGTGTGCACGCTTTGGTGGAGATATGCCTTTGGACATGCCAGTGGGGTTGGAGGCGATGCTGGGCATAGAGAGTGGGTGGCTGAGCCTCCTTCCTGAGCTGCTGTTTGTTTTGAGCTTAAGGGCCTGTAGAGACTCTGCCTCCTCTGCTGGTTGCCACCTCCTCTTTTTTTTTTCCTCAGAGATGGGGTCTCACTATGTTGTCCAGGGTGGTCTTAAACTCCTGACCTCGCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACTTGGCCAGCGN | pathogenic | 180,071 |
Located at chromosome 11 position 68917800, the variant affecting gene IGHMBP2 (immunoglobulin mu DNA binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'IGHMBP2-related_disorder', 'Neuronopathy,_distal_hereditary_motor,_autosomal_dominant'] | GGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAGAAATCACAAATAAGGAAAGGTTACATCTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTGGCCAGGCTGGTCTCGATTTCCTGAGCTCGTGATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACCAGTTCCATCTTTTTGAGATATTAAAGTAAGTTGAGGTTTTGATTATGGGTTGAAAAAATTTTTTTTAATCTCTTGAAAAATGTAGAATAATATGTGAAGCTCAGTCTCTCTATTCGTAAGCTCCTACAACCCAAATCCTGGGGCGGGCAAGCGCTTTTTCTTCCCCAAGATCAAATGCCTGTGTGCAGGGCAGGGCTGGTCCAATTTCTGGTCTCCTCTGAGTTAAAAACGTGGTCTCTTTCCAGGACTTAAAATGTCTCTTCCTGTGACTTCAAGGCAAGTGAGGATGTAAGGTGCTTAGTTGCGTGTGTGTATCTGTGTCTCTTTCAAGGAAGATTTCTGAGTGTTTTTTACGGAGTTTATTGAACTGGACTGAATGATAGAAGCACTTCATAAATAGAGTTGAAGAAGTACAAAGTTGGACTGAAGTAAGTGTATCTCCTTTGTTTTTCTTTATAGGTGAAAAACAAAAAGACCCAGGATAAGAGAGAGAAAAGTAATTTTCGAAATGAAATTAAGCTGTTAAGAAAAGAACTGAAGGAGAGGGAAGAAGCAGCTATGCTCGAGAGCCTCACTTCGGCAAACGTGGTCCTTGCAACAAACACAGGTGAGGGGGCGTCTCCATCCTGCCTGTGTGGCCTCGAAGAAGGAGTTGGGGTGTGTTCCCTCTTCTGTTTTCTGGAAGAGTTTGTTTAGAATTGGTATTTCTTTCTTAAAAGTTGGGTAGGGTTCACTAGGGAAGGCCTCCGTACCTGCAGTTTTCTTCATGGAGAGGTTTTGAACTACAAATTCAACTTCTTCAATAGATAAAGGGCTGTTCAGGTTGTTTTTCTTCCATGAGCTTGTAGCTTTCAAGAAGTTTGTCCATTTTATCTAAACGGTTGAATTTAGAGGCATGAAGTGGTTCCTAATATGCCCTTATTCTTCTTTTACTGTCTGCAGGATCTGTCATGATATAACCTGTATTATTCCTGATACTGGTTTGTGTGCTCTTTTTTTTCCTGCTCTTCTGGCTGGAGGGTTTTTTTTTTTAAATTTAGATTTTATATATACATACATATATATTTTAAGAGACAGGGTCTCTGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCATTTTGGGATGCCAATGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCTGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTTGTGGTATGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGTAGGAGAATTGCTTGAATCCTGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGCCTCAAAAAAATAAAAACCCCAAAACCAAAAAAACAAAGCAAAACAAAAAAAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCCCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGTGGACCCACCGCGCCCGGCCTGGCTGCAGGTTTCAATTGATCTTCCCAAAGAACCAGCTTTTGCTTTTTCTCTATTGTTTTTCTGTTTCATGTATTTCCACATTGATCTTTATCGTTTTCTGTTTTCTTGGGCTTGTTCTTTTTCTTGCTTCTTAATGTAGAAGCTGAGATCATTGATTTGAGACCTTTCTTTTTTTCTGATACGAGCATTTAGCTCCATAAATGTCTCCCTAAGTACTGCTTTTGTGGCATCCCACAAATTCTGATCTGTTATATTTCATTCATTTCAAAATGCTATCTCATTTGCCTTTTGGTTTTTTAGAAGTGTTATATAGTTTCTAGATAGTTGGGAAATGTCCAGATATCTTTCTGTTGTTGATCTCTCCTCTCCTCTCCCCTCCCCTCCCCGTCCCCGTCCCCGTCCTGTGTGGGATCTCACTGTGTTGCTCCTCTCCTCTCCTCTCCTCTCTTCTTCTCTCCTCTCCTCATCCCTGTCCCCATCCCCATCCCCGTCGCCTTCCCTATCCCCATCCCCATATGGGATCTCACTATGTTGCCCAGGCTGGACTCAAACTCCTGGGCTCAGGTGATTCTCCCAGCTCAGCCTCCTGAGGAGCTGGGGCTCCCTGCATGTGCCACTGCACCTGGCTTACTTTCTGTTATTGGTTTCTAATTTAGTTCCATGTGGTCAGAGGACATACTCTCATGACTTGGATAGTTCATCGAGACTTACTTTATGGTCCAGAATCTGGTCTCTGTCTTTGTGAGTGTTCCATGCACACTTGATAGAACGTGTGTTCTGATTTTATTGAGTGTTCTGTAAGTAGTCAGATCATGATGGTTGATGATGTGGTTCAAGTCTGCTGTATTGAGAGAGGGACGTTGAAATCTCTGAATATAACTGGACATGTCTGTTTTTCCTGCAGTTCTATTGGTTTTTGCTTCATATCTTTGGAAACTCTTTTACTGGGGTCATAAATGTGGGGCTATGTTTTCTTGATTAATTAACAAATTTATCATTATGAAATGACCTTCTTTATCCCTGATAATATTCTTTTTTTGA | GGATTACAGGTGTGAGCTACTGTACCCAGCCAGGGCTGCCCATTTTTGATAGAGAACTATACTTAGCATTTAACAGAGTCTCAACTGTCTTCAGAGCACTTGGTTAGTAGGTGTGAGGAATTGTAAAGAAAACATTTTCCGGCCGGATACAGTGGCTCACACGTGCAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGAACAGTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCCACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGCATGGTGGCGGGCACCTGTATTCCCAGCCACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCATGGTCACTCCACTGCACTCCAGCCTCGGTGACAAAGCAAGACTCCGTCTCAAAAAAAAAACCAAACATTTTCCTGGGTGTCTTTCTGTCTGGTCCTGTTGTCTTGCTAGTAGTGGCAATGGGAGAAAAGTAGCCTGAACATAAACATTGAAAAAATTGGCATCCTCCTAGAGCTTTCCGTCCATTCCACCTTCTCCTTGTGAAAGAGGACACCAGTCGGCTGGAGAAGTAGGGTGGTGGTAGGTTTCTTCCATTTGAGAGGGCCTTTTCCCCCCAGCCCGACACTCCGACACTTTTGAGCTCTTTGGTTCTCCCGTGGACGCTTTGTTGTAGTGTCTGTGCTCACGTCCTGTCCTGTGTGCTCACTGTCGGTACTGGTACTCCTTGGTGTCTTAGTCTCAGAGGAGTGATGGCAGCAGGGAGGGTGCTGGAGCCAGTCTTTGCTCTAATGTCTGTGCTCACATCTTGTCCTGTGTGCTTACGGTCAGCACCTGCACCCTCGGTGTCCTAACCTCGGAGGAGTGGCGGCAGCAGAGAGGGTGCTGGGAGCCAGTCTTTGCTATGGGCCCGTGGCATCGAGGCTGCTTGCGTGGCTGCTTGCATGGCAGCGTGGGGATGGGCCGCCTGCTGGGAGGGGGAGGAAGGATAGATGCATGTCATGCAGGTTCGAGGTGGTGGAGGAATATGCATGATGTTTGCTCATCACAAATGTGGGTGATTTCATTTCCTGTTGAAATTGGTGCTTTTGAGGATTTTCTTTCTCTGTAAATTATACACAGTAAAATACCTCCTGTCACCCCTGCTAAAACTCCATCCCCCAAAGTAGAAATCACAAATAAGGAAAGGTTACATCTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGAATCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACACACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACAGCGTTTCACTGTGTTGGCCAGGCTGGTCTCGATTTCCTGAGCTCGTGATCTGCCTGCCTCGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGACCAGTTCCATCTTTTTGAGATATTAAAGTAAGTTGAGGTTTTGATTATGGGTTGAAAAAATTTTTTTTAATCTCTTGAAAAATGTAGAATAATATGTGAAGCTCAGTCTCTCTATTCGTAAGCTCCTACAACCCAAATCCTGGGGCGGGCAAGCGCTTTTTCTTCCCCAAGATCAAATGCCTGTGTGCAGGGCAGGGCTGGTCCAATTTCTGGTCTCCTCTGAGTTAAAAACGTGGTCTCTTTCCAGGACTTAAAATGTCTCTTCCTGTGACTTCAAGGCAAGTGAGGATGTAAGGTGCTTAGTTGCGTGTGTGTATCTGTGTCTCTTTCAAGGAAGATTTCTGAGTGTTTTTTACGGAGTTTATTGAACTGGACTGAATGATAGAAGCACTTCATAAATAGAGTTGAAGAAGTACAAAGTTGGACTGAAGTAAGTGTATCTCCTTTGTTTTTCTTTATAGGTGAAAAACAAAAAGACCCAGGATAAGAGAGAGAAAAGTAATTTTCGAAATGAAATTAAGCTGTTAAGAACTGAAGGAGAGGGAAGAAGCAGCTATGCTCGAGAGCCTCACTTCGGCAAACGTGGTCCTTGCAACAAACACAGGTGAGGGGGCGTCTCCATCCTGCCTGTGTGGCCTCGAAGAAGGAGTTGGGGTGTGTTCCCTCTTCTGTTTTCTGGAAGAGTTTGTTTAGAATTGGTATTTCTTTCTTAAAAGTTGGGTAGGGTTCACTAGGGAAGGCCTCCGTACCTGCAGTTTTCTTCATGGAGAGGTTTTGAACTACAAATTCAACTTCTTCAATAGATAAAGGGCTGTTCAGGTTGTTTTTCTTCCATGAGCTTGTAGCTTTCAAGAAGTTTGTCCATTTTATCTAAACGGTTGAATTTAGAGGCATGAAGTGGTTCCTAATATGCCCTTATTCTTCTTTTACTGTCTGCAGGATCTGTCATGATATAACCTGTATTATTCCTGATACTGGTTTGTGTGCTCTTTTTTTTCCTGCTCTTCTGGCTGGAGGGTTTTTTTTTTTAAATTTAGATTTTATATATACATACATATATATTTTAAGAGACAGGGTCTCTGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCATTTTGGGATGCCAATGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCTGCCTAGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGAGTTGTGGTATGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGTAGGAGAATTGCTTGAATCCTGGAGGTGGAGGTTGCAGTGAACCAAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGCCTCAAAAAAATAAAAACCCCAAAACCAAAAAAACAAAGCAAAACAAAAAAAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGGGATCCCCCTGCCTCAGCCTCCTAAAGTGCTAGGATTACAGGTGGACCCACCGCGCCCGGCCTGGCTGCAGGTTTCAATTGATCTTCCCAAAGAACCAGCTTTTGCTTTTTCTCTATTGTTTTTCTGTTTCATGTATTTCCACATTGATCTTTATCGTTTTCTGTTTTCTTGGGCTTGTTCTTTTTCTTGCTTCTTAATGTAGAAGCTGAGATCATTGATTTGAGACCTTTCTTTTTTTCTGATACGAGCATTTAGCTCCATAAATGTCTCCCTAAGTACTGCTTTTGTGGCATCCCACAAATTCTGATCTGTTATATTTCATTCATTTCAAAATGCTATCTCATTTGCCTTTTGGTTTTTTAGAAGTGTTATATAGTTTCTAGATAGTTGGGAAATGTCCAGATATCTTTCTGTTGTTGATCTCTCCTCTCCTCTCCCCTCCCCTCCCCGTCCCCGTCCCCGTCCTGTGTGGGATCTCACTGTGTTGCTCCTCTCCTCTCCTCTCCTCTCTTCTTCTCTCCTCTCCTCATCCCTGTCCCCATCCCCATCCCCGTCGCCTTCCCTATCCCCATCCCCATATGGGATCTCACTATGTTGCCCAGGCTGGACTCAAACTCCTGGGCTCAGGTGATTCTCCCAGCTCAGCCTCCTGAGGAGCTGGGGCTCCCTGCATGTGCCACTGCACCTGGCTTACTTTCTGTTATTGGTTTCTAATTTAGTTCCATGTGGTCAGAGGACATACTCTCATGACTTGGATAGTTCATCGAGACTTACTTTATGGTCCAGAATCTGGTCTCTGTCTTTGTGAGTGTTCCATGCACACTTGATAGAACGTGTGTTCTGATTTTATTGAGTGTTCTGTAAGTAGTCAGATCATGATGGTTGATGATGTGGTTCAAGTCTGCTGTATTGAGAGAGGGACGTTGAAATCTCTGAATATAACTGGACATGTCTGTTTTTCCTGCAGTTCTATTGGTTTTTGCTTCATATCTTTGGAAACTCTTTTACTGGGGTCATAAATGTGGGGCTATGTTTTCTTGATTAATTAACAAATTTATCATTATGAAATGACCTTCTTTATCCCTGATAATATTCTTTTTTTGANNNNN | pathogenic | 180,082 |
Does the chromosome 11 mutation at position 68933300 within gene IGHMBP2 (immunoglobulin mu DNA binding protein 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | GGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCTGCACCCAAGAGCTCCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGAGGACGCTTATTCAGTGGCTTCTTCCAGGGAGAGGTTCTCGAGATGTCCTTAAAGGAGGTCTTCATCCTCTGGAAAGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAA | GGGGTTGTCCTTCCTGGGGCGCCTGAGGGTGCAGGCTGCAGAGTGGGAGGGCAGCTACAGCTGCACCCAAGAGCTCCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGAGGACGCTTATTCAGTGGCTTCTTCCAGGGAGAGGTTCTCGAGATGTCCTTAAAGGAGGTCTTCATCCTCTGGAAAGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCA | pathogenic | 180,104 |
Does the genetic variant at chromosome 11, position 68933375, impacting gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Neuronopathy,_distal_hereditary_motor,_autosomal_dominant_1'] | CCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGAGGACGCTTATTCAGTGGCTTCTTCCAGGGAGAGGTTCTCGAGATGTCCTTAAAGGAGGTCTTCATCCTCTGGAAAGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAG | CCCGACCCACCACCTCAGAAGAGGCCAGGCTCCTGCTTGTTCCCGGCTCCTGCCTGCTTCGTGGAGCAGGAAGCCCAGGTCTGCAGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGAGGACGCTTATTCAGTGGCTTCTTCCAGGGAGAGGTTCTCGAGATGTCCTTAAAGGAGGTCTTCATCCTCTGGAAAGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAA | pathogenic | 180,107 |
Is the variant located on chromosome 11 at position 68933459, gene IGHMBP2 (immunoglobulin mu DNA binding protein 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | AGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGAGGACGCTTATTCAGTGGCTTCTTCCAGGGAGAGGTTCTCGAGATGTCCTTAAAGGAGGTCTTCATCCTCTGGAAAGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTG | AGCCACAGATCTGGCGGCTGCAGCTGCACGCGGAAAGGCAGATCCTACCTGTTCCCGGCTCCCCTAAGAGCACCGGGAGACGCAGATCCACAGCTGCAGTTTGGGCGGCTGTAGCCCCGCCCTTCTGGAGCAGGAGGCCTGGGTCTGTAGCTGTGACCCTGTGTCTGGGCTGCAGCGGCCACTCTACCTCAGAAGGGGCGGGGCTCCCACTGGCTTCATGGAGTGTGCAGCCACAGCCAGGGTTCCCTGCTGCAGCCGGCATGATGGCAGCAGCCACTGCCATCAGAACCTCCCTGGGAGCAGGGAGGACAGGCGTGGGAGGACGCTTATTCAGTGGCTTCTTCCAGGGAGAGGTTCTCGAGATGTCCTTAAAGGAGGTCTTCATCCTCTGGAAAGCCTTTGGGTGGAGGAAGTTTGGAACTGTGCCCTTGAGCAGGGACCCTGTTGTGTAGGAGGGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTTGGGGGAAGACGTTGGGTGGTGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCATTCCCTGGAGACAGTAGGATGGTTTCGGGGAAAACATTGGGTGGCGTTCCCTGGAGAGAGTAGGATGGTTTCGGGGGAAGACGTTGGGTGGCATTCCCTGGAGAGAGTAGAATGGTTTCGGGGGAAGACGTTGGGTGGCGTTCCCTGCAGAGAGTAGGATGGTTTTTGGGGGAGGACGTTGGGTGACGTTGCGCTGAGTGTTTTGGGTTTGCAGTTGGTACTGATCATCGCGTCCTGTCCTCATTTTGTTGGAATTAAAAATACGTTAATCACAGAGGTCTGGTAAGTTTCCAGAGGGAAGGTCTCTGAAGTGGAGCTGGGTACTGCCCCAGGGTTTTGGTGGGGTTGGTGAGCCGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGN | pathogenic | 180,109 |
Variant in gene IGHMBP2, located at chromosome 11 position 68934445: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | CGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTAC | CGTAGTGGTGCAGAGGGTGGGCTCTGGCACCAGGTGGCCCGGGCAGGTCCTGGCTCTGCAGCTCACCCGGGCAGCTGTGGGCTGGCAGCCTCCTCTGTCTCACCCTTCTTACATGTAATATGGGAGTCATAACAGTAGCCACCTCATGAGGTTGTTATAAGGATGAAGGGAGTTAATCCACATCTGGCACACCCAGCAGTGCCTGGCGCCTGGGCAGTGCTCAGCCGCTGCAGCCGTTCTTGGTGGGAGTGGACTTGACTGCTCACAGTTGGAGCATGTTGGAGTGTGTTCGTTCCCTGTTATGGCTGTGACAAATGACCACAAGCTTAGTGGCTGACAACAACAGATTTTCTGACCTCCAGAAACGACAATCTGGGGGTCAGATGTCCAAAATCAGACTCACCGGCTTAAAATCAAGGTGTGGGTGGGGTTGCTTCTTCTGGAGGATCCAGGGGAAAACCCATCTCCTGGTCTTTTCCGGCTCCTAGAGGCCACTGCTTGACTTGTTGCCCTTTCCTCTGTCTATGAAGCCAGCCGTGTTACGTCTTCAAATCTCTCCCCTCGGTGACCTTCTCTGACTGACCCTCGCATGCCCCCTTATAAGACCCTTGGGTTATCACCTGGGTCATCCAGGGTCGCCTCCCCATCCCAGGATCCTTAACTTCATCTCAGCTGCAGCGTCCCTGTTGTCCTGTAAGGGAACATTCACGGGCCTTGGCGATTGGATGTAGGTGCCTTTGGGGCTGTGATTCAGCCAAACCCGCCCCTTGGTTACTTCTGGGTCAGAATCCAGGGGAGAGTTGGGTCCTGAGGTTTGGGGCCTGTCCTCCTCACTTGCTGTGGTTCACACCTGGACTCTGGGGCTCAGGCCTGCCTTCCCCCTTTCTCCCTCCTGGGCGCAGGGCTGCGCTGGCAGGACTGTCACTCAGCCTGATGGAACGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACTGACGGTGCAGTACCGCATGCACCAGGCTATCATGCGCTGGGCCTCAGACACCATGTACCTTGGGCAGCTCACAGCCCACTCTTCCGTGGCAAGGCACCTCCTGAGGTGAGTAGCTCGGCACCACCCGCCGCCCCATCCTTCTGCCCTGGCTAATCCTCTGCGTCACCTGTTTCTACGCAGCAAGCTAAAGTGAAGCTTTCTGCATGAAAGTCGACTCTGAGGCTAGCTTTTTGGAAGAGAGGGTGGCCTTGCCCTGGAGAGCTGGGTCAGGCCCGCTCCCTCCCTTCTGATGTCCTGATGTGCTCATTGTCCTCCCCTACCTAAGCCTTTTCCTCGTGGGAGGGGTCGGTTCTGTTGGGTGGGGCCTCAGTGCTGCACTGTGGCCCCCTGATGTGCTCCCTCTCTGCCTGTGTGCCAGGGACCTCCCAGGTGTGGCTGCCACAGAAGAGACGGGTGTGCCCCTGCTCTTGGTGGACACCGCCGGCTGCGGGCTGTTTGAGCTGGAGGAGGAGGACGAACAGTCGAAAGGGAACCCTGGTGAGCTTGCTTGCAGATGGCCAGCTTTTTTGTTTAAACATACCTCCAGCTCTTTAAAAATAAAAGGCACTTTAATTGCCTAATTCCGGGAGGAGCTGAGAGCAGTTGTTGATGGCCGTGAAAAAACGGAGCCCCACACTGCAAGAGGCTGAGCAGCATCGTTTTCTCCAGGGTGAGCAGACCGCTCCTGGGTGAGATGGGCCTGGCAGCATTTTACGGCCTTCTCCTGAATGGTGGCCCAGCTCTGCCTGGCTGGTCTGGTGATGGGAACTGTCATTGCTCAGCTGACACCACCATCTCCCCAGTTCCACGTTGAACAGGATGCACGGCCATAGGAGTCAAAAGGCCTTCATTGCTGATGTGAAATTCAAGTTAGCTGGGCATGGCTGGTCCTGGGGCCCTGGGACACAGATGATTAGCTCCCAGGAAGCCACCTGAGTGGAGGATCAGCTGGCCATGATAGACAGAAACGTGCCCGAAACACGTGTTGGTGGTGGATGCCCACTTGGGGCGACCTTGTGCTGCTCACCCGTTCTTTCCCTCCAGGCGAAGTCCGCCTCGTCAGTTTGCACATCCAGGCTCTGGTGGACGCTGGTGTTCCAGCCCGTGACATTGCTGTGGTCTCGCCATACAACCTCCAGGTACGAGGGTTTCCTTTTGTCCCTCTACAGAGCAGCTGGGGCTCACACAACCTAGAGGGTGAAAGAAAAAGGGTGATTTGTTGGCTGTGGTGACCGAAAAGTTCAGGGGTAGGGCTGACCTTATTGTGACTGGATCCAGGGCCCAAATGATGTCGTCAGGGGCCCCTCTGCGTGTTCGTCTGCCCGCCCCACCTTGCCCCGCCCTGCCCGGTGCCCCAGCCTTCTGCACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACNNNN | benign | 180,126 |
A genetic alteration at chromosome 11, position 68936833, in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Distal_spinal_muscular_atrophy'] | CACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGC | CACTGGCTTGTGTTCTGGCCAGATTTGCTGGGTGACCCCGGCAGCCTCAGGCTGACACAGTCCTTCCACGGGCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCN | pathogenic | 180,167 |
Assess the variant on chromosome 11, position 68936904, impacting IGHMBP2 (immunoglobulin mu DNA binding protein 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Inborn_genetic_diseases'] | GCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCT | GCAGCCCTGGCGGAACAGCCTGTCCTTTTCTGGCATTTCCCACAGGAGTCTCAGCCTTGAGCCTTGCTGGTCTGGCTCAGGTCGTGTTCCCATGCGTATCTCATTTGGTAGGAAAAATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTN | pathogenic | 180,172 |
The chromosome 11, position 68937019 genetic variant in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | AATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGC | AATGTACCTTCTGGAGTATCGGGAGGATCTGTGGAAGTGGCCATCATACCTTCCTGGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCN | pathogenic | 180,178 |
Variant in IGHMBP2 (immunoglobulin mu DNA binding protein 2), chromosome 11, position 68937074—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Neuronopathy,_distal_hereditary_motor,_autosomal_dominant'] | GGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTA | GGTGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTANNNN | pathogenic | 180,182 |
Evaluate if the mutation on chromosome 11 at position 68937076 in IGHMBP2 (immunoglobulin mu DNA binding protein 2) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | TGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAGAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTAGA | TGTGCAGGCATCACACATAGGGCTGTCTGAGGCTGGCGGCTGTCATAAGCCAAAAGAAATGATCAAATGCCAGGGACAGGGTGTGGTATTGGCGTGCATGCGTGCCCGTGAGGAGGGCGAACGGGAAGCCTTTCCCCATGGGGCTCCTGCAGGCTCCGCTTCCCAGGTCCTGGCTGTTTCACAGCGTGAGGCCCTCTGCTGAGCTGAAGGGCAGGGTCTTGCTGCGCTGGCATGGGTGGGTGAGGAAACCACAGCCCGGCTGGTGTTTCAGGTGGACCTGCTCAGACAGAGCCTTGTGCACAGGCACCCTGAGCTTGAAATCAAGTCTGTCGATGGCTTCCAAGGCCGAGAGAAGGAGGCCGTGATACTGTCCTTCGTCAGATCCAACAGGAAAGGTACGGAGCCCTCGCCAGAGTCCTTTGGGGACAGCACAGAAGTGAATTTATTGATTGAGGGGCATATTGGGTGTCTGCTGGGTGCCACACTGGTTTCTGGCAGTGTGCTCATGGTGCACCTTCTGTCCTTAGTAAGTTCACGTCAGGCAAAGCACAGGCAAGAGAGTCTGCAGAGGCTCAGAGGCGTGAGTGTGCTGTCAGGGAGCAGGTGGCTGGGGTGGCAGCTGGGGGCGCAGGGTGGGCTGGGAATGATCAGGACATCCTGCCGAGGAGGTGAAGCCCCCTGCAGCCCAGAGCTGGCCTTTAGCCTCCATGCACGGAGCCGCGGGGTGTGGTGGTCGTGGCTGTGGTTTCTGTGCTGCTGTGGTGTGTGGGCTTTCCCATTTGGGATGAGCATTGTTCCCAGAAGCAGGTTTAGTGAACGGGCTTTGTGAGACATTCTCAGAAGGCAGAAAGCAGGTGAGGCCTGGCTAGAAGCTATGGGGGAAAGAAGGGAAGGTCCTGGAAGGTTTCTTGTGCTTTCTCCCTGGTGCCAGCTGCAGCCACACCCCAGGCGGCCCCTGAGGCTGGGCTTAGAAGGAAAGGAGCGACAGAACCCAGTCGGGTTCCCCAGAGCCCCACTCAGTCAGCCGTGGCAGCCAGATGCCAGGGCAGGTGTGGCATCACGGTGCCACGCGTGGCCGGGCACCCGTGTGGATGGTGGGCCACGCGCAGGGGACTACACTTTTGGTGGTGGTTACTGATAAGGGCGTAGGAGCCTGACTGTGTTTCTTAGTCTGAAACCTGCTTCTCACTCCCCTCTGGCCTTTTGTAGGTGAAGTTGGTTTTCTTGCTGAGGACCGGAGGATCAACGTGGCTGTCACCCGTGCCCGACGCCACGTGGCGGTCATCTGTGACTCCCGTACTGTCAACAACCATGCATTTTTGAAGACCCTGGTGGAGTATTTCACACAGCATGGGGAAGTACGCACGGCCTTTGAGTATCTTGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCCAGGGTTCCAGCCACGCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCAGGAGGGAGGCCAGGAGGCTGCAGCACCTGCCAGACAGGGCCGGAAGAAGCCGGCTGGGAAGTCTCTGGCCTCTGAAGCTCCATCTCAGCCCAGCCTCAACGGAGGCAGCCCAGAGGGAGTGGAGAGCCAAGATGGCGTGGACCACTTCCGGGCCATGATAGTGGAGTTCATGGCCAGCAAGAAGATGCAGTTGGAGTTTCCTCCTTCCCTCAATTCCCACGACAGGCTGCGGGTCCACCAAATAGCCGAGGAGCACGGGCTGAGGCACGACAGTTCCGGGGAAGGGAAGAGGAGGTTCATCACTGTGAGCAAGAGGGCCCCGCGACCCCGAGCAGCCCTGGGACCCCCAGCAGGGACCGGTGGCCCAGCCCCTCTCCAGCCAGTGCCCCCTACCCCTGCGCAGACAGAGCAGCCTCCCAGGGAGCAGCGTGGCCCAGACCAGCCTGATCTGAGGACGCTGCACCTGGAGAGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAGCAAGGAGCAGCAGGCCTCAGGGCAGCAGAAACTTCCAGAAAAGAAAAAAAAAAGCCAAAGGTAAGTCAACTAATAAGAACTTGGGGCAGTGTCCCCTCACTGGGGTGCTGGCCCCACTTGGAGCCCACCTGCCACCATCAACAGAAGGAAGGGCTTCCTCCTGGTGGCACCGTGCCCGTGTCATTTTAGCTTTATTTTCAGTCATGCCACTCCCAGCTCCGTCTGGGCTCCCCTAGGTCGGTGATCAGGTCACGGGCACCTTCTTTTCCCAGACCCTGTGTGGGACTCGGCAAGTAGGCAGCACTCAGAGCATGTCTGCAGCAGCAGGAGGGGCCTGGAAGAGCAAACATGGATGGCTCCCTGGAGCCCCTCGGGAATGGAGCGATCACGGGGTCCCATGCAACATGTGGCCCTGGAGGGTGGAGGTCTTGCACAGCGAAAGGGTGCACTCTGCCTGGAAGTTGTCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTAGANN | pathogenic | 180,183 |
A mutation at chromosome position 68939544 on chromosome 11 in gene IGHMBP2 (immunoglobulin mu DNA binding protein 2): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease_axonal_type_2S'] | TCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTAGAGTTGAGGCTGGGCATGTCCTGGCGAGCTGCCTGGAGGAGTCAGGCCTGATCTGAAGGCAGTGGGGTACCCTCTAGGGTGTCAGCAGGGCTGTGATGTCACCAGTCTTGGCTGCAGTGTGGATTAGGTAGGCGGAGGCTGGGAGGCAGTGGGAAGTGGCCGCAGGGACCGTGTGGTCAGTCAGGGTGGTGCCATTTCCTGTGTGCACACTCGGGGGCTCCCGCCACACCAGGGTGCAGACCACCCCGCCGCTCTCCCGCCAGGCAGCCTGCAGGGTGAAGGACTGACATGGCGGGAGGAGTGGCCTTCTCTGTTGGGGCGCCTGTGGCCCCCCAGCTCTTTGATAGGCAGAGCTGCAGGATCTGCCTCCTTGCCCCTGTGAGCCCAGCAGTGATTCTTGTGTCCTCCCCAGATCCATGGCTGCGGTGAGAGGGCTCGCGCCCATGCCCGGCAGAGAATCAGCCGGGAAGGGGTCCTCTATGCCGGCAGCGGGACCAAGAACGGATCCCTGGACCCAGCCAAGAGGGCCCAGCTGCAGAGGAGGCTGGATAAGAAGCTGAGTGAGCTCAGCAACCAGAGGACCAGCCGGAGGAAGGAGAGGGGGACGTGACCGGCCGCATCCTTGCACGCCCCGCGGAGCTCTCTCCATGGTAGCCCAGGGCGCTGGCAGACCATGCTCCGCCTCCACCAGGGCCACAGAGGAGCGGAGGGGCCTATGGGGGAGGAGCGGAGGGCCCTGTTGGGGAAGGTTGGGTTTTTGGACCCCAGGGATAAGCTTTTCCGATGTCACAATGTGGAGGAAAGCACCTGGGGGACAACAGTGCTCGTGCAGGTGGGGCTTGGGAAATGCACGTCCCTTCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCTCTGGATCCTGGGGAAGGTTCCAGTCCCTGGAGAATACCCAGGGCCTCAAACTTGAAGTCACTCCTCCAATGTCTGGGACTTGCCAGCTCAGCCCGTTAGGATGAGGGTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCAGGGAGCAGGGAGTGGCGTTTGGCTTGCACGTTCCCATGTGGCCAGATGCTGGGGCCACTTTCCTTCTGTCTGCTGGTGACTGCAGTGTTCCCCCTCCTCCTCACCACGGGGCTCCTGTGAGTCTGGGGGGCACCTCTTTCTGGCCTGTGCACCTCTCTCTGGCTTATAAAGGTGCCTGGCCTGTGCCAGCCCCTCCTTGTTGCGCCTCACCGTGGGGACCAGGTGAGCCGGCTCTCCCACGTGGTTGTCCCGGGAAAGCTGCCCCACAGCCTCAGCATCTTCAGCACTTACCGATCCAGAGCCTCCCGGCCTTCTCCGGTGTCCTGTACCAACTCTTCTATTTAAGAGAACCTCAGATGATGTACCTGAGCCTCAGGGTTTTGTTTCAGAGGGATATAAATTATTTAAAAATTAAATGAAAACGTTGCACACTGCCCCAGTGTGTCTGCTGCGGGTCTAAGGGGCGCGCCCTTTGCCTGTTCTGCTCAGCTGCTGTGCCCTCCCCGCCGCGTCTCTCAAGCCCCCTCTCCTTCTGACCTCTCTGCGGCAGACTCTCCCGGTGCAGGCTCCTCTCTCCTTAAATCCCATTCATGTCCTTTTATGTCCCCGATGGTTCTGAGTGAGGTTGAGCTTCCCTGACCTGCACCTAGGGTGGCTGTCCCCCAGAGGCCATTTACGCAGCGCATTCGGCTAATGTGTCCTCAGGCCAGGCCTGCACGCTTTGACTGCCGTGTTCTTGCTGGTCCTGGGCGACTCTCCCTTCCTACCCGGACTGACGCCCCACCCTGGGCCACTAGAGCCCCTCCTCCTCCCCCTGTCCTGTCCTTGTCTGTTCCCGTCAAGTGGCTTTTGGACTGAATTGTTTGGGAAGGGGACCAGGACTCTACTGCATTTTGTGTCAAGTGCGGCAGAGTTAATCTGGTTGCTTCCATAAGTGCTGAGCACCATGCACAGAAGGCTGCAGTTCTCATGCTCTTTGAGGACCCGTGGCTGTGGGAGGCATTTGTGTAATGATGCTCTTGGGGGATGAGGGCACCATTGGAAGCATCTCCCGGTTGACACAGCACACAGGGACAGGTGTTCTTCCTGCAGGGGCGGGGGCGGGGGTGCCTGCTTAAGCTCCCCAACTTCCCAGAATCCAAACAGCTGATAAGAGTCCTGCCCTGGGGTTGACACGGATGCTGAAAGATGTTGGCTCTTGGGTGGGAGACAGCCGACAGCCACACTCCCTGCCTCCTAGGTAGCCTGTCTGCAGGAGAGAAGGAGGCCAAAGAGAAACAGACCCAAAAATGGGGGTGGGAGAGTGACCTGATGACACTGTTTGAGCACCTGGATGTAGCCATGCCTGACCTCCACCCCATTCTTCCTGGTGTCCTGAGCTAGTAAATCCCCTTTTTTAGCTGAAGAAGTCTGCCTTGGGTTTT | TCCTGGGCAAAATGCTCAGAACCACAGGGGCTGGCTGAGCGCAAAACCATTCTTGCCCTTGGGCCATGTGGAGTCCCTGGGTGGGCTCTGCCCCGTTTGCCACATCCTGCATTGTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTAGAGTTGAGGCTGGGCATGTCCTGGCGAGCTGCCTGGAGGAGTCAGGCCTGATCTGAAGGCAGTGGGGTACCCTCTAGGGTGTCAGCAGGGCTGTGATGTCACCAGTCTTGGCTGCAGTGTGGATTAGGTAGGCGGAGGCTGGGAGGCAGTGGGAAGTGGCCGCAGGGACCGTGTGGTCAGTCAGGGTGGTGCCATTTCCTGTGTGCACACTCGGGGGCTCCCGCCACACCAGGGTGCAGACCACCCCGCCGCTCTCCCGCCAGGCAGCCTGCAGGGTGAAGGACTGACATGGCGGGAGGAGTGGCCTTCTCTGTTGGGGCGCCTGTGGCCCCCCAGCTCTTTGATAGGCAGAGCTGCAGGATCTGCCTCCTTGCCCCTGTGAGCCCAGCAGTGATTCTTGTGTCCTCCCCAGATCCATGGCTGGGTGAGAGGGCTCGCGCCCATGCCCGGCAGAGAATCAGCCGGGAAGGGGTCCTCTATGCCGGCAGCGGGACCAAGAACGGATCCCTGGACCCAGCCAAGAGGGCCCAGCTGCAGAGGAGGCTGGATAAGAAGCTGAGTGAGCTCAGCAACCAGAGGACCAGCCGGAGGAAGGAGAGGGGGACGTGACCGGCCGCATCCTTGCACGCCCCGCGGAGCTCTCTCCATGGTAGCCCAGGGCGCTGGCAGACCATGCTCCGCCTCCACCAGGGCCACAGAGGAGCGGAGGGGCCTATGGGGGAGGAGCGGAGGGCCCTGTTGGGGAAGGTTGGGTTTTTGGACCCCAGGGATAAGCTTTTCCGATGTCACAATGTGGAGGAAAGCACCTGGGGGACAACAGTGCTCGTGCAGGTGGGGCTTGGGAAATGCACGTCCCTTCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCTCTGGATCCTGGGGAAGGTTCCAGTCCCTGGAGAATACCCAGGGCCTCAAACTTGAAGTCACTCCTCCAATGTCTGGGACTTGCCAGCTCAGCCCGTTAGGATGAGGGTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCAGGGAGCAGGGAGTGGCGTTTGGCTTGCACGTTCCCATGTGGCCAGATGCTGGGGCCACTTTCCTTCTGTCTGCTGGTGACTGCAGTGTTCCCCCTCCTCCTCACCACGGGGCTCCTGTGAGTCTGGGGGGCACCTCTTTCTGGCCTGTGCACCTCTCTCTGGCTTATAAAGGTGCCTGGCCTGTGCCAGCCCCTCCTTGTTGCGCCTCACCGTGGGGACCAGGTGAGCCGGCTCTCCCACGTGGTTGTCCCGGGAAAGCTGCCCCACAGCCTCAGCATCTTCAGCACTTACCGATCCAGAGCCTCCCGGCCTTCTCCGGTGTCCTGTACCAACTCTTCTATTTAAGAGAACCTCAGATGATGTACCTGAGCCTCAGGGTTTTGTTTCAGAGGGATATAAATTATTTAAAAATTAAATGAAAACGTTGCACACTGCCCCAGTGTGTCTGCTGCGGGTCTAAGGGGCGCGCCCTTTGCCTGTTCTGCTCAGCTGCTGTGCCCTCCCCGCCGCGTCTCTCAAGCCCCCTCTCCTTCTGACCTCTCTGCGGCAGACTCTCCCGGTGCAGGCTCCTCTCTCCTTAAATCCCATTCATGTCCTTTTATGTCCCCGATGGTTCTGAGTGAGGTTGAGCTTCCCTGACCTGCACCTAGGGTGGCTGTCCCCCAGAGGCCATTTACGCAGCGCATTCGGCTAATGTGTCCTCAGGCCAGGCCTGCACGCTTTGACTGCCGTGTTCTTGCTGGTCCTGGGCGACTCTCCCTTCCTACCCGGACTGACGCCCCACCCTGGGCCACTAGAGCCCCTCCTCCTCCCCCTGTCCTGTCCTTGTCTGTTCCCGTCAAGTGGCTTTTGGACTGAATTGTTTGGGAAGGGGACCAGGACTCTACTGCATTTTGTGTCAAGTGCGGCAGAGTTAATCTGGTTGCTTCCATAAGTGCTGAGCACCATGCACAGAAGGCTGCAGTTCTCATGCTCTTTGAGGACCCGTGGCTGTGGGAGGCATTTGTGTAATGATGCTCTTGGGGGATGAGGGCACCATTGGAAGCATCTCCCGGTTGACACAGCACACAGGGACAGGTGTTCTTCCTGCAGGGGCGGGGGCGGGGGTGCCTGCTTAAGCTCCCCAACTTCCCAGAATCCAAACAGCTGATAAGAGTCCTGCCCTGGGGTTGACACGGATGCTGAAAGATGTTGGCTCTTGGGTGGGAGACAGCCGACAGCCACACTCCCTGCCTCCTAGGTAGCCTGTCTGCAGGAGAGAAGGAGGCCAAAGAGAAACAGACCCAAAAATGGGGGTGGGAGAGTGACCTGATGACACTGTTTGAGCACCTGGATGTAGCCATGCCTGACCTCCACCCCATTCTTCCTGGTGTCCTGAGCTAGTAAATCCCCTTTTTTAGCTGAAGAAGTCTGCCTTGGGTTTTN | pathogenic | 180,200 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 68939657, gene IGHMBP2 (immunoglobulin mu DNA binding protein 2). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_distal_spinal_muscular_atrophy_1', 'Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_axonal_type_2S', 'Distal_spinal_muscular_atrophy', 'Inborn_genetic_diseases'] | GTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTAGAGTTGAGGCTGGGCATGTCCTGGCGAGCTGCCTGGAGGAGTCAGGCCTGATCTGAAGGCAGTGGGGTACCCTCTAGGGTGTCAGCAGGGCTGTGATGTCACCAGTCTTGGCTGCAGTGTGGATTAGGTAGGCGGAGGCTGGGAGGCAGTGGGAAGTGGCCGCAGGGACCGTGTGGTCAGTCAGGGTGGTGCCATTTCCTGTGTGCACACTCGGGGGCTCCCGCCACACCAGGGTGCAGACCACCCCGCCGCTCTCCCGCCAGGCAGCCTGCAGGGTGAAGGACTGACATGGCGGGAGGAGTGGCCTTCTCTGTTGGGGCGCCTGTGGCCCCCCAGCTCTTTGATAGGCAGAGCTGCAGGATCTGCCTCCTTGCCCCTGTGAGCCCAGCAGTGATTCTTGTGTCCTCCCCAGATCCATGGCTGCGGTGAGAGGGCTCGCGCCCATGCCCGGCAGAGAATCAGCCGGGAAGGGGTCCTCTATGCCGGCAGCGGGACCAAGAACGGATCCCTGGACCCAGCCAAGAGGGCCCAGCTGCAGAGGAGGCTGGATAAGAAGCTGAGTGAGCTCAGCAACCAGAGGACCAGCCGGAGGAAGGAGAGGGGGACGTGACCGGCCGCATCCTTGCACGCCCCGCGGAGCTCTCTCCATGGTAGCCCAGGGCGCTGGCAGACCATGCTCCGCCTCCACCAGGGCCACAGAGGAGCGGAGGGGCCTATGGGGGAGGAGCGGAGGGCCCTGTTGGGGAAGGTTGGGTTTTTGGACCCCAGGGATAAGCTTTTCCGATGTCACAATGTGGAGGAAAGCACCTGGGGGACAACAGTGCTCGTGCAGGTGGGGCTTGGGAAATGCACGTCCCTTCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCTCTGGATCCTGGGGAAGGTTCCAGTCCCTGGAGAATACCCAGGGCCTCAAACTTGAAGTCACTCCTCCAATGTCTGGGACTTGCCAGCTCAGCCCGTTAGGATGAGGGTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCAGGGAGCAGGGAGTGGCGTTTGGCTTGCACGTTCCCATGTGGCCAGATGCTGGGGCCACTTTCCTTCTGTCTGCTGGTGACTGCAGTGTTCCCCCTCCTCCTCACCACGGGGCTCCTGTGAGTCTGGGGGGCACCTCTTTCTGGCCTGTGCACCTCTCTCTGGCTTATAAAGGTGCCTGGCCTGTGCCAGCCCCTCCTTGTTGCGCCTCACCGTGGGGACCAGGTGAGCCGGCTCTCCCACGTGGTTGTCCCGGGAAAGCTGCCCCACAGCCTCAGCATCTTCAGCACTTACCGATCCAGAGCCTCCCGGCCTTCTCCGGTGTCCTGTACCAACTCTTCTATTTAAGAGAACCTCAGATGATGTACCTGAGCCTCAGGGTTTTGTTTCAGAGGGATATAAATTATTTAAAAATTAAATGAAAACGTTGCACACTGCCCCAGTGTGTCTGCTGCGGGTCTAAGGGGCGCGCCCTTTGCCTGTTCTGCTCAGCTGCTGTGCCCTCCCCGCCGCGTCTCTCAAGCCCCCTCTCCTTCTGACCTCTCTGCGGCAGACTCTCCCGGTGCAGGCTCCTCTCTCCTTAAATCCCATTCATGTCCTTTTATGTCCCCGATGGTTCTGAGTGAGGTTGAGCTTCCCTGACCTGCACCTAGGGTGGCTGTCCCCCAGAGGCCATTTACGCAGCGCATTCGGCTAATGTGTCCTCAGGCCAGGCCTGCACGCTTTGACTGCCGTGTTCTTGCTGGTCCTGGGCGACTCTCCCTTCCTACCCGGACTGACGCCCCACCCTGGGCCACTAGAGCCCCTCCTCCTCCCCCTGTCCTGTCCTTGTCTGTTCCCGTCAAGTGGCTTTTGGACTGAATTGTTTGGGAAGGGGACCAGGACTCTACTGCATTTTGTGTCAAGTGCGGCAGAGTTAATCTGGTTGCTTCCATAAGTGCTGAGCACCATGCACAGAAGGCTGCAGTTCTCATGCTCTTTGAGGACCCGTGGCTGTGGGAGGCATTTGTGTAATGATGCTCTTGGGGGATGAGGGCACCATTGGAAGCATCTCCCGGTTGACACAGCACACAGGGACAGGTGTTCTTCCTGCAGGGGCGGGGGCGGGGGTGCCTGCTTAAGCTCCCCAACTTCCCAGAATCCAAACAGCTGATAAGAGTCCTGCCCTGGGGTTGACACGGATGCTGAAAGATGTTGGCTCTTGGGTGGGAGACAGCCGACAGCCACACTCCCTGCCTCCTAGGTAGCCTGTCTGCAGGAGAGAAGGAGGCCAAAGAGAAACAGACCCAAAAATGGGGGTGGGAGAGTGACCTGATGACACTGTTTGAGCACCTGGATGTAGCCATGCCTGACCTCCACCCCATTCTTCCTGGTGTCCTGAGCTAGTAAATCCCCTTTTTTAGCTGAAGAAGTCTGCCTTGGGTTTTTGTCACTTGCTGCCAAAGAATCTTTGCTGACCCAGTCATGCCCACATCTGTTTATCTTATTGGGCATACCCCTCCCAGCATGGAGGCAGTATGGAATTAGTGTCGCCCCACTC | GTGCCCACCCCGCAGGAGCTGGCTAGGCGTGCAGTGGGAGTTGGCCAGGCATACGCTGGCAGAGCGTGTAGCGGTCTTGGGGAACTCCTGCTACTGCCATTTTCCTCAGCAAGAGCATGCAGGAGTTCCAGCTTGCATTGATTCATTGAATTCCTGAAGCGAAGCTACACCAGCACATGGGTGGCTTTGAAAGGGGCCTCCCAGAGCCTGGGGCTCCAGAGGAATTCACTCCCCAAACCTTTGTTGAGCAGCTACTGTATGCCACGCTTTGTGCTAGAGGACAGGACTGATGCCACCCCTGCCCCCAGGCACTGACAGGGTAGCAGAGGGAAGACACATGAGCTGCTTTTTAATTTTTTTTAGAATTAATAGAGACGGGGTCTCACTCTGTCACTATGTTGCCCAGGCTAGTTTTGAACTCCTGGCCGCAAGCAGTCCTCCTACCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCGTGCTTAGCCATGAATTGATTTTAAAACCTTAAATGAGGGGCCAGGTGTTGTCTTTCCGTTTGCCTGAGTGACGCGGGTCTTCTCCAGGACATCCGGCCACAGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTGCCGCCGTTAAGGCTGATAACACCTGCGGCTTTGCCAAGTGCACAGCCGGCGTCACAACCCTGGGCCAGTTCTGCCAGCTCTGCAGCCGCCGCTACTGCCTCAGCCACCACCTGCCCGAGGTATGTCGGCCTCCCCTCCTGCGATCAAACAGTGGGGAGGGGTGGTGGGTTCCGTCTCCAGGAAGCAGACCCTGGGCAGACTTGTTCCAGTCGGAACAGTTAGCTCCTTACAATCTCCAGATACCTTCAGAAACAGAAATCAGACACTGACTCATGATCGGTTTTCAGCACATCAGGGCACAAGCAAACAAAATGCCTTATTTGCTGAGCTGCAGCCACGTTAGTGGGAATTCTGGGCAGAGGGAATTTTGTCCCAGTGTCCTTGGGTTCTGTCAGTGGCCTAATCTGGTCTGTTTGGCATAGGGGAGGTGGGAGGCAGAGCCTCCAGCCCGTCATCTGAGCTGGCCATGGCCCGGCTGCTGTGTCATTCATTCCTTGAGCCGGGGTTGATGAGAACCCCCTGGGCCAGGTGTGGGCGCCTGTGGAAAGCCGAGGTCTGAACCAGCCTTGTCTCTACCCTGGAGGATGCTGGGCCTGGTGGGGGACCTGGGTAAGAGACCAGCATACAGTACCAGGTGTTGAGTGCTCTGAGGAAGAAAACCCAGGGCCAGGGTGGCAGCAGGGTCACCCACCCAGATGCAGCAGTCAGGGTGGGCTTCCTGGAGGAAGTAACACTGGAGCTGAGACCTGTGGGACAGAAGGTGGGAGCTGGGCTGGGAAGGACAGGGCCGATGGCGGGTGGGCAGGCAGGCTATCCACCCTTAGAACATGCATAAAGCCCCAGGCCCAGTCAGAGAGTTGGGAGTAGAGTGTGAGGCAGATGGCTAGAGTTGAGGCTGGGCATGTCCTGGCGAGCTGCCTGGAGGAGTCAGGCCTGATCTGAAGGCAGTGGGGTACCCTCTAGGGTGTCAGCAGGGCTGTGATGTCACCAGTCTTGGCTGCAGTGTGGATTAGGTAGGCGGAGGCTGGGAGGCAGTGGGAAGTGGCCGCAGGGACCGTGTGGTCAGTCAGGGTGGTGCCATTTCCTGTGTGCACACTCGGGGGCTCCCGCCACACCAGGGTGCAGACCACCCCGCCGCTCTCCCGCCAGGCAGCCTGCAGGGTGAAGGACTGACATGGCGGGAGGAGTGGCCTTCTCTGTTGGGGCGCCTGTGGCCCCCCAGCTCTTTGATAGGCAGAGCTGCAGGATCTGCCTCCTTGCCCCTGTGAGCCCAGCAGTGATTCTTGTGTCCTCCCCAGATCCATGGCTGCGGTGAGAGGGCTCGCGCCCATGCCCGGCAGAGAATCAGCCGGGAAGGGGTCCTCTATGCCGGCAGCGGGACCAAGAACGGATCCCTGGACCCAGCCAAGAGGGCCCAGCTGCAGGAGGCTGGATAAGAAGCTGAGTGAGCTCAGCAACCAGAGGACCAGCCGGAGGAAGGAGAGGGGGACGTGACCGGCCGCATCCTTGCACGCCCCGCGGAGCTCTCTCCATGGTAGCCCAGGGCGCTGGCAGACCATGCTCCGCCTCCACCAGGGCCACAGAGGAGCGGAGGGGCCTATGGGGGAGGAGCGGAGGGCCCTGTTGGGGAAGGTTGGGTTTTTGGACCCCAGGGATAAGCTTTTCCGATGTCACAATGTGGAGGAAAGCACCTGGGGGACAACAGTGCTCGTGCAGGTGGGGCTTGGGAAATGCACGTCCCTTCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCTCTGGATCCTGGGGAAGGTTCCAGTCCCTGGAGAATACCCAGGGCCTCAAACTTGAAGTCACTCCTCCAATGTCTGGGACTTGCCAGCTCAGCCCGTTAGGATGAGGGTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCAGGGAGCAGGGAGTGGCGTTTGGCTTGCACGTTCCCATGTGGCCAGATGCTGGGGCCACTTTCCTTCTGTCTGCTGGTGACTGCAGTGTTCCCCCTCCTCCTCACCACGGGGCTCCTGTGAGTCTGGGGGGCACCTCTTTCTGGCCTGTGCACCTCTCTCTGGCTTATAAAGGTGCCTGGCCTGTGCCAGCCCCTCCTTGTTGCGCCTCACCGTGGGGACCAGGTGAGCCGGCTCTCCCACGTGGTTGTCCCGGGAAAGCTGCCCCACAGCCTCAGCATCTTCAGCACTTACCGATCCAGAGCCTCCCGGCCTTCTCCGGTGTCCTGTACCAACTCTTCTATTTAAGAGAACCTCAGATGATGTACCTGAGCCTCAGGGTTTTGTTTCAGAGGGATATAAATTATTTAAAAATTAAATGAAAACGTTGCACACTGCCCCAGTGTGTCTGCTGCGGGTCTAAGGGGCGCGCCCTTTGCCTGTTCTGCTCAGCTGCTGTGCCCTCCCCGCCGCGTCTCTCAAGCCCCCTCTCCTTCTGACCTCTCTGCGGCAGACTCTCCCGGTGCAGGCTCCTCTCTCCTTAAATCCCATTCATGTCCTTTTATGTCCCCGATGGTTCTGAGTGAGGTTGAGCTTCCCTGACCTGCACCTAGGGTGGCTGTCCCCCAGAGGCCATTTACGCAGCGCATTCGGCTAATGTGTCCTCAGGCCAGGCCTGCACGCTTTGACTGCCGTGTTCTTGCTGGTCCTGGGCGACTCTCCCTTCCTACCCGGACTGACGCCCCACCCTGGGCCACTAGAGCCCCTCCTCCTCCCCCTGTCCTGTCCTTGTCTGTTCCCGTCAAGTGGCTTTTGGACTGAATTGTTTGGGAAGGGGACCAGGACTCTACTGCATTTTGTGTCAAGTGCGGCAGAGTTAATCTGGTTGCTTCCATAAGTGCTGAGCACCATGCACAGAAGGCTGCAGTTCTCATGCTCTTTGAGGACCCGTGGCTGTGGGAGGCATTTGTGTAATGATGCTCTTGGGGGATGAGGGCACCATTGGAAGCATCTCCCGGTTGACACAGCACACAGGGACAGGTGTTCTTCCTGCAGGGGCGGGGGCGGGGGTGCCTGCTTAAGCTCCCCAACTTCCCAGAATCCAAACAGCTGATAAGAGTCCTGCCCTGGGGTTGACACGGATGCTGAAAGATGTTGGCTCTTGGGTGGGAGACAGCCGACAGCCACACTCCCTGCCTCCTAGGTAGCCTGTCTGCAGGAGAGAAGGAGGCCAAAGAGAAACAGACCCAAAAATGGGGGTGGGAGAGTGACCTGATGACACTGTTTGAGCACCTGGATGTAGCCATGCCTGACCTCCACCCCATTCTTCCTGGTGTCCTGAGCTAGTAAATCCCCTTTTTTAGCTGAAGAAGTCTGCCTTGGGTTTTTGTCACTTGCTGCCAAAGAATCTTTGCTGACCCAGTCATGCCCACATCTGTTTATCTTATTGGGCATACCCCTCCCAGCATGGAGGCAGTATGGAATTAGTGTCGCCCCACTCNN | pathogenic | 180,206 |
Mutation at chromosome 11, position 70473241, within SHANK2 (SH3 and multiple ankyrin repeat domains 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autism,_susceptibility_to,_17'] | AGAAAGATTTTAAATTGCTAAATTTTATGTGTTCATTCTAGAGCTGTTCCAGACCTAATCAAGAAAAAAAGGAAAAAAAAAAAACAAAACCATGTTTTATAATTAGAGATGGGCTGAGCTAGTTCTGAAATAATAATAAAACCAAAAACCTGACATTCGAGTATCCTCCAAATGGGGGAGAATGTGCTGGAAGCCTGACTGTGTGTTTTGCGGCCCATGTGCATCTGGTGACCTCTTTTGGAAATTCGAGGTATTGTTATGGGGTGGAGGGACTCCGGGGAAAGAAAGGGGCGGGGCTCAAGAAAGCCTTGCCAGAGAGGCTGACCTGGCAGCCCAGGAGACCTCCCTGCTTTCCTCTCCTCACGCCTCTGCTTTCACTCTGATCCTGCCGCCCACCTTCTGTTCTCAACCCTGGGTTCTGTCTATACTCCATACCCACTGGGTCCTCAAAGAAGCTGTTGTACTGTTAAGACAAGCTGGTGGGATTCCTAGACACCCAGAGCGATAGGGGAAAAGCCTCTAAGTACCATCTTCCCTGGCCTCCGAGAGCAAAAGGACTGTCTCAGCAGAGATGCTCACCCTTGGCTGGGCACAGAACTGAGGATGCTGTGCCCGCCCAGCTCCCAGAGGAGACGCTGTCTCACTGGCAGCCGCATGTGCCCGCCATGAGCCATGCGTCTTCTTGTCCTTCATGTCAAAGTGGATGCTCACCTGCTCTGATCTTTGCAGAGCTCAAGACATCTTCAATTAAAAAGAATTCTGAGAGGCAGAGAAGCCCTTATTCTCCATCCTGGATGGGTGCTCATGGCAGACAACTGCTCTTGTCCTGGAGACCTGGAGCTTGGGCAGTTGCACGCTGGCTGGCTCCCTTGGCCAGGTCTCCCCTCCATTGTGGAATCGTGACTTTGTGCTTTGACTAACTCCATGTGACATCTGCTTGGCCACCTTGGAATTATGCTAACAGATTTGCAGAAATAAAGAAAGCTAAGCAAAGCTGGGCACGATCCCATCCAAACTCCCAGCACTGCCAGGAACCTCATGGCCAAAGAGCCATGGATGCAAACCACAGGAGGAGATGGGGAAAAGAATCTGTGTAGGAAAAAGTTTCTCTGCCTTTCAGGCCCATGATGGGGCACTGGACAAATGCATCTGGGAGCATCTCACTGCAAGCCAAGTGCAGGAGAAAGAGGGGCAGGTGAGCATCAGGTGTCCTCTGAGAGGCCACAGGACTGAGGAAAGGCCTCATGCCGGGGCCTGGGGTGGTGAGAGCTGCCCGGAAAGCAGAGGACGGAGGTCTCAGGAGGTATCTAGAGTGCACTGGTGTCTGCCTACAAGAGCTAGGATCCCGTGCAAAATTGACGGGGAGCCTCTCGGACCCGGCAAAGCGAGGCCACCTGCATGCTGGGCGGCAGGCTGAGAATCTTTTTCCATGTTAGAAAAACTCCCTCCCCTTGTCCCATGTGTGATAGAAACTGCCCAAGACACCCACATGGTGAGCCAGGGGTCTGAAGACCCAGCCATGTTGTGGACACAACTCAGTATTTCTTTGGGTACCAGGAGACAAACCCATGGAGTGGGGTTGATGCTCACAGACTTCGCTTGGCATTCAGATGTTTCAGCACGAGCCCATCTCTACTTATAACAAGAGCAGTCTGCGAGGTGGAGAGCAGCCGTCCTTATCTGTCCAGCAGCTGTTTCAAAGCCCTTTCTATGTTCATTCTGTGCCCGACTCGAGTTACCCCAAGATCGATGAGGTCCTCCTTCTGCAGGTTTGGTAAGTGACTGCCATCGATCTCATTGTCCATGAAGGCCTCTTTATGTTCACCCAAGTTTAGACTTTCCAGCCAATCGGCCACATCTGGTTTAGTCCACAGGTGGACAGGTTTAGTTGTAAAAGGCTTATTTGAGATTGGCTGTTGCAGTATCGAGGGGGATGGCGACCTACTGCGTCCCGCTGGGTTCAAGCCAAATAGATCCCCAGAAGGGGGCTGGCTTGGAAGGCTAAAGACATCTGAGAGAGCGGGAGAAGGAGAGGCGGTGGCAGCAGACAGGGGGGCGGGCAGGGTCTCTTTGTTCATCTCTGTTGGCGAGACCACAGGGCTTGGGGCACGTCTTGTTCCTGAGGTCCTGCTTTCATAGTCGGGGGGCCGGCTCTGCAGGGTGATGGGCTGGGAGGTGCCGGGGCGAACAGTGAAGGTGACCGTCGTGCTCCGTGTACCTGAGATGGTGCTCATGATCTCCGGGCTTCTGAAACAGCAACACAGAGAAAACCATCACAAGGCAGGTCACCGAGTCAGGGCAGCTGGCTGCAGATCACCCAGGAAGGCGAGGGAGACGCCCAAACCATGCCAGAGTGTCTAGTGGCAGATCCACTGGCAGTGAACGAATGATTTGCCATGCCAGGGTGGGGGAGGGGGAGAAAGGGGCCAGAGCAAAGTTGGAGACACCAGAGCACACCACGTCAGCCCACTCACCTGAACTGGGACAGAGGGGCTGGGGGACCTGCCTGTGCTGGGGGGAGCACACCACGTCAGCCCACTCACCTGAACTGGGACAGAGGGGCTGGGGGACCTGCCTGTGCTGGGGGGCAGGGCCGGGGGACCCTCGGGAGGGTGGCCACTGAGGCATTTGGAAGGGGTCCCTTGAAGAGGGCACGGAGACAGGGACAGAGTGGGGTCCTGTCACCTGGGTAGAACGTGCCAGGCAACATCTCCAGCGCCTCAGCTTCAGCAGGTGGGAAGGAGCACACCTGGAGGACAGGCCCCTCAGCCGCCTGGCAGCCTTAGGCTTTTTGGGTAAATGGACAAGAGCAGGGCAGGATCCTTCCCAGGTGGCCCCTTTCAGTAACTGGAACCCCTGTAGCTACGCAGGGCACTCAGGGGTTGAGATCACCCGGAAACCCAGACAGCAGGGCGTGGCTTGTGTGGCCAGTGTGGGCTGCGCTCACCTTCCTGAGGCAGCACTGTCCAGCGCCCACCCAGTGGACAGTTTTGTTGCAGAAGGAGCTGGGGTACCCTGTGTTATTTTTAGCCCCTTTCATGTGAGAGGCTCACTGGTAGGACACACGGGCCTTACTGAAAAGCAGAACGCGTGAGGAGCCCTGTCTTCCCCAGGGTGGCCATGGGCGTCCCCGAGGGTCCCCTGTGCCTTGCCGCTCTGGCTGGGCAGGCAAAGCCCTCAGAGCTCAAGTCAGGGAGGACGACCCTTCTAGCTCCAACCTTTACTGGCCCCAGGGTGGTGGCCAGATGACTCCCACAGGCAGGAGGTCCCATCTCAGTGCCAGAGAAGTCCAAGTCCTCACGCTTACCCACGTGGAGGTGGCCTTTCACACACCACTCCCTCACGGGCTCTGGCCAAGGCCTGTGGCAGGCACTCTCCACACCAAGAGAACTGCCACTCTGGGCCCTAGTGCATGTTTTGCTGTCCCCACACTGAAAGCCCATTCATCCTATTGTCCCTAGGAAAGCCACAGCCACTGGGGAGGGGAGGAGAGGTGTGGGTCTCTTGCCTTTTGGGCCCATTCACGTGGATATGAACGGCCCACCCACCGCTTCTGAAAAGATCCATCCTACCACGGCTCTCTCTTCAAGACCTGGACTTGAGAGATGTCTGCTGGAGCCCTGGCTCTGTCAGATGCCAGCTTGGGTGCACTTTTCTCCTGTCTCCACATCTTCCCACATGAAGTGGGCTCCTCTCCCTCCTATGTGGTGGGTTACCCTGGGTGGAGGGGCTCTGGAGAGCATGAGGAGTGCACTGGTGTGACATCGTGACCGTGAATGGTGGTGGGCTGCAGTGTCTCAGTGAAAGGGTCATGGGCAAGAGGGGGAGAGCTGCAAACAGTAGAGATGCTGCCGTGTGGGGAGACTCCCTGGAGGGCAAGACTGAAGCCCCTGCCCGTCTGCTGGGGGCCAGTTCATCGACTTGCACTGGGGCTGTCTTTGGAGCTCAATGGCTGACCAGTTAGAGCAGCACTTCCCAAAGAGGAGCCCACAGACCCTTCATAGAAACCACCTGGGACACTGGTGGGCCGTGAGGACTCCTGAGCTCGTCTCAAACCTGTGGAAGCAGGAGTGCTGTGCATGGGGACCAGGTGTCT | AGAAAGATTTTAAATTGCTAAATTTTATGTGTTCATTCTAGAGCTGTTCCAGACCTAATCAAGAAAAAAAGGAAAAAAAAAAAACAAAACCATGTTTTATAATTAGAGATGGGCTGAGCTAGTTCTGAAATAATAATAAAACCAAAAACCTGACATTCGAGTATCCTCCAAATGGGGGAGAATGTGCTGGAAGCCTGACTGTGTGTTTTGCGGCCCATGTGCATCTGGTGACCTCTTTTGGAAATTCGAGGTATTGTTATGGGGTGGAGGGACTCCGGGGAAAGAAAGGGGCGGGGCTCAAGAAAGCCTTGCCAGAGAGGCTGACCTGGCAGCCCAGGAGACCTCCCTGCTTTCCTCTCCTCACGCCTCTGCTTTCACTCTGATCCTGCCGCCCACCTTCTGTTCTCAACCCTGGGTTCTGTCTATACTCCATACCCACTGGGTCCTCAAAGAAGCTGTTGTACTGTTAAGACAAGCTGGTGGGATTCCTAGACACCCAGAGCGATAGGGGAAAAGCCTCTAAGTACCATCTTCCCTGGCCTCCGAGAGCAAAAGGACTGTCTCAGCAGAGATGCTCACCCTTGGCTGGGCACAGAACTGAGGATGCTGTGCCCGCCCAGCTCCCAGAGGAGACGCTGTCTCACTGGCAGCCGCATGTGCCCGCCATGAGCCATGCGTCTTCTTGTCCTTCATGTCAAAGTGGATGCTCACCTGCTCTGATCTTTGCAGAGCTCAAGACATCTTCAATTAAAAAGAATTCTGAGAGGCAGAGAAGCCCTTATTCTCCATCCTGGATGGGTGCTCATGGCAGACAACTGCTCTTGTCCTGGAGACCTGGAGCTTGGGCAGTTGCACGCTGGCTGGCTCCCTTGGCCAGGTCTCCCCTCCATTGTGGAATCGTGACTTTGTGCTTTGACTAACTCCATGTGACATCTGCTTGGCCACCTTGGAATTATGCTAACAGATTTGCAGAAATAAAGAAAGCTAAGCAAAGCTGGGCACGATCCCATCCAAACTCCCAGCACTGCCAGGAACCTCATGGCCAAAGAGCCATGGATGCAAACCACAGGAGGAGATGGGGAAAAGAATCTGTGTAGGAAAAAGTTTCTCTGCCTTTCAGGCCCATGATGGGGCACTGGACAAATGCATCTGGGAGCATCTCACTGCAAGCCAAGTGCAGGAGAAAGAGGGGCAGGTGAGCATCAGGTGTCCTCTGAGAGGCCACAGGACTGAGGAAAGGCCTCATGCCGGGGCCTGGGGTGGTGAGAGCTGCCCGGAAAGCAGAGGACGGAGGTCTCAGGAGGTATCTAGAGTGCACTGGTGTCTGCCTACAAGAGCTAGGATCCCGTGCAAAATTGACGGGGAGCCTCTCGGACCCGGCAAAGCGAGGCCACCTGCATGCTGGGCGGCAGGCTGAGAATCTTTTTCCATGTTAGAAAAACTCCCTCCCCTTGTCCCATGTGTGATAGAAACTGCCCAAGACACCCACATGGTGAGCCAGGGGTCTGAAGACCCAGCCATGTTGTGGACACAACTCAGTATTTCTTTGGGTACCAGGAGACAAACCCATGGAGTGGGGTTGATGCTCACAGACTTCGCTTGGCATTCAGATGTTTCAGCACGAGCCCATCTCTACTTATAACAAGAGCAGTCTGCGAGGTGGAGAGCAGCCGTCCTTATCTGTCCAGCAGCTGTTTCAAAGCCCTTTCTATGTTCATTCTGTGCCCGACTCGAGTTACCCCAAGATCGATGAGGTCCTCCTTCTGCAGGTTTGGTAAGTGACTGCCATCGATCTCATTGTCCATGAAGGCCTCTTTATGTTCACCCAAGTTTAGACTTTCCAGCCAATCGGCCACATCTGGTTTAGTCCACAGGTGGACAGGTTTAGTTGTAAAAGGCTTATTTGAGATTGGCTGTTGCAGTATCGAGGGGGATGGCGACCTACTGCGTCCCGCTGGGTTCAAGCCAAATAGATCCCCAGAAGGGGGCTGGCTTGGAAGGCTAAAGACATCTGAGAGAGCGGGAGAAGGAGAGGCGGTGGCAGCAGACGGGGGCGGGCAGGGTCTCTTTGTTCATCTCTGTTGGCGAGACCACAGGGCTTGGGGCACGTCTTGTTCCTGAGGTCCTGCTTTCATAGTCGGGGGGCCGGCTCTGCAGGGTGATGGGCTGGGAGGTGCCGGGGCGAACAGTGAAGGTGACCGTCGTGCTCCGTGTACCTGAGATGGTGCTCATGATCTCCGGGCTTCTGAAACAGCAACACAGAGAAAACCATCACAAGGCAGGTCACCGAGTCAGGGCAGCTGGCTGCAGATCACCCAGGAAGGCGAGGGAGACGCCCAAACCATGCCAGAGTGTCTAGTGGCAGATCCACTGGCAGTGAACGAATGATTTGCCATGCCAGGGTGGGGGAGGGGGAGAAAGGGGCCAGAGCAAAGTTGGAGACACCAGAGCACACCACGTCAGCCCACTCACCTGAACTGGGACAGAGGGGCTGGGGGACCTGCCTGTGCTGGGGGGAGCACACCACGTCAGCCCACTCACCTGAACTGGGACAGAGGGGCTGGGGGACCTGCCTGTGCTGGGGGGCAGGGCCGGGGGACCCTCGGGAGGGTGGCCACTGAGGCATTTGGAAGGGGTCCCTTGAAGAGGGCACGGAGACAGGGACAGAGTGGGGTCCTGTCACCTGGGTAGAACGTGCCAGGCAACATCTCCAGCGCCTCAGCTTCAGCAGGTGGGAAGGAGCACACCTGGAGGACAGGCCCCTCAGCCGCCTGGCAGCCTTAGGCTTTTTGGGTAAATGGACAAGAGCAGGGCAGGATCCTTCCCAGGTGGCCCCTTTCAGTAACTGGAACCCCTGTAGCTACGCAGGGCACTCAGGGGTTGAGATCACCCGGAAACCCAGACAGCAGGGCGTGGCTTGTGTGGCCAGTGTGGGCTGCGCTCACCTTCCTGAGGCAGCACTGTCCAGCGCCCACCCAGTGGACAGTTTTGTTGCAGAAGGAGCTGGGGTACCCTGTGTTATTTTTAGCCCCTTTCATGTGAGAGGCTCACTGGTAGGACACACGGGCCTTACTGAAAAGCAGAACGCGTGAGGAGCCCTGTCTTCCCCAGGGTGGCCATGGGCGTCCCCGAGGGTCCCCTGTGCCTTGCCGCTCTGGCTGGGCAGGCAAAGCCCTCAGAGCTCAAGTCAGGGAGGACGACCCTTCTAGCTCCAACCTTTACTGGCCCCAGGGTGGTGGCCAGATGACTCCCACAGGCAGGAGGTCCCATCTCAGTGCCAGAGAAGTCCAAGTCCTCACGCTTACCCACGTGGAGGTGGCCTTTCACACACCACTCCCTCACGGGCTCTGGCCAAGGCCTGTGGCAGGCACTCTCCACACCAAGAGAACTGCCACTCTGGGCCCTAGTGCATGTTTTGCTGTCCCCACACTGAAAGCCCATTCATCCTATTGTCCCTAGGAAAGCCACAGCCACTGGGGAGGGGAGGAGAGGTGTGGGTCTCTTGCCTTTTGGGCCCATTCACGTGGATATGAACGGCCCACCCACCGCTTCTGAAAAGATCCATCCTACCACGGCTCTCTCTTCAAGACCTGGACTTGAGAGATGTCTGCTGGAGCCCTGGCTCTGTCAGATGCCAGCTTGGGTGCACTTTTCTCCTGTCTCCACATCTTCCCACATGAAGTGGGCTCCTCTCCCTCCTATGTGGTGGGTTACCCTGGGTGGAGGGGCTCTGGAGAGCATGAGGAGTGCACTGGTGTGACATCGTGACCGTGAATGGTGGTGGGCTGCAGTGTCTCAGTGAAAGGGTCATGGGCAAGAGGGGGAGAGCTGCAAACAGTAGAGATGCTGCCGTGTGGGGAGACTCCCTGGAGGGCAAGACTGAAGCCCCTGCCCGTCTGCTGGGGGCCAGTTCATCGACTTGCACTGGGGCTGTCTTTGGAGCTCAATGGCTGACCAGTTAGAGCAGCACTTCCCAAAGAGGAGCCCACAGACCCTTCATAGAAACCACCTGGGACACTGGTGGGCCGTGAGGACTCCTGAGCTCGTCTCAAACCTGTGGAAGCAGGAGTGCTGTGCATGGGGACCAGGTGTCTNN | pathogenic | 180,277 |
Evaluate this variant at chromosome 11, position 70486126, gene SHANK2 (SH3 and multiple ankyrin repeat domains 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GAGAGACTGAAGATGCTGCCACCTGGGGAACAGCAAAATGGTGCACACCACAGGGAAGGAGAACCAAGAACCATAAGCCATCACGGGAGCCAATGGGGCTCCCCAAAGCCACAGACTGCTGAGCCCTGATACGGTTTGGATCTGTGTTCCCACCCAAATCTCATATGTGAAATTGTAGTCTCCAGTGTTGGAGGAGGTGCCTGGTGGGAGGTGATCAGATCATGGTGGGGGAGTTCTCATGAACGGTTTAGCACCATCTTCCCTGGCTACTGTACATAGTGAGCTCTCATGAGATCAGGTTGTTTAAATAGACTGTGGTACCTCCCCCGACTCCCTCTTGCTCCCCCTTTGGTGATCACTGAAAGTTTCTTGAGGCTTCTCCAGAAGCCAAGCAGAAGCCAACATCATGCTTCCCATATAGCCTGCAGAACTCGAGCCAATTAAACCTCATTTTTTTATAAATTACCCAGTCTCAGCTATTTCTTTATAGCAGTGCAAGAATGATCAAATATAGGCTCCTTCCAGACAGCCTCAGATAGAGCCCTCTGGTTGCGTCTAGAAATGACTCCTGACTTATTCTACGTTCAGTTCCAATGGAAATAATGTAAACCCTGCACAATACTGTGAAGGGCTGACATGGACACAGCTAGAGGCTTCTGCCCCTGGGACAGGATGGGCTGGCAGGGAAGAATGTACTGCACTTAGAGTTCACCAGTACAGCCATGACCCTGTGCCTCCCAAGCCCGCAAACCTGGTAGTGATGGGAGGGGAAGAAGAACCCACACGTGTATTCAGACACCTGCACCCACCGCCCACCCACTCGCTGCCCTCTTGGGGCAGCTAGTCTCCTGCAACCAACTCGAAGCTTGGTTTGGGCTTTGGCGAGGCTCTAAACGGCCTTCTAGGTGGTCCTGGCAGAGATCTGGAGGGCACAGAAGAGAGAGTAGAGCTTCTCTTTGGAAGCCAAGGTGAGGAGGGCTTCCAGCAACCTCATTTCATTACAAGTCTTTATGAAGGAGTGCTGTGTCCCACCAGGATGGCTGTGATCATTACTCGGCTATCCCGGAGTCCAGGAGCATGAGAAAAAGAAGTGTTACTGCATTAACAGACGTGGCCCACACAGGCTTTACGAATTCCCCTCTTCGTGTCCGCTGGGGCTGCTACCCGAGGGCCTTTCCTGGTCAGCAGGGACAGTGCACGCAGAGCGGTGTGCATGTGCACCAACCGCGGACTTACCTTGGAGCGAGGCTGGCGGACTTGGCTCCCATTGGTGAATCCAGTCCTTCCCCCGGCTTTGCCAATTTCTCTCGGTTCATTTGCTGTAGGATAGAGTTCAATTCACTAATAACGTTTGCCTTTGGGCCTGAGAGAATCGGGCTTTTGATCTCTGTGACGTCGCCCCACAACTTGGAGGTCCTTGGCTGGAGAACCTTGGCCATCCCAGGCTGGGCACTGCCCGGCGGGGGCGGGGGAGCGGGCGGGGGGATAACAAAGCTATCTACATCTTCTTCCACGAGCGCGTCTTGATAAAGTGCATTGCTTTTGTGAATGATGGGCTTCATTTTTGGCTTAGGAGGTACTGGGGGTTTGTCAACCATAAATGCTTGCCCATCTGCATAGACTGTGCAGGTGTCCACATTCTCTCCACCTTCGGAAGACAGGGTGGAGATGCTAGACACGGTGGAGATAGTGCTGGTCGTCTCGAGGTGGTGGTCGCTGCTACTCCGGCTGTCCACCTCCTCGATCCCAGAGTCGGCGACGGCGTCAAAGCTTTCAGGGGGTGGCAGGAATGAGGCAGGCAGACAGTTTGAAAGACTGGCTGGCTTCTTGCTGTCTGCAGAGTTGGTTGGTTGGCTGGAGTTCAACGAAGGGGACTGAGGGGTGTCGCTTTTCTTCTGCTTCACTAAGTCTGAGAGAGCCGGGACAGAAGCTGCCCGGTCATCGGGGATATCAAAACTATTTGCAAATTCCAGGGGAGGAGGCAATGGCTCTGTAAAAATAAAATCCTCATCCAAGTCCACGGATGCCAGAGGGGGAGGAGGGATGCGGAATGGCAAAATCACCGCCTCTTCCATGGAGCCCACCGCGACGATGGTTCTGCCGGGCACGGTGGTGGGCTCGGGGGCAGCGGAGATCTGTAAAGCACCTTCGGTTTCGGAAACACCTTCTGGCACCTCGGACGGCGAGCTGTCTGGCTTCATCTCCACCTCTGCCTTCTCGTCCTCTTCCTGCAGGGCGTTGTCCAGCTTAGTGGCGTCCACGGTGTGCACCATCAGCAGGCCAGCCGACTTCTGCTGGGACGTGTCCATGATGTCGATCAGCATGTTCTTCTTGTCATCGCCTTTCCGGTCTCGGCCCAGGTCGGTCTCGTACTTGTTCTCCGTCTCCTGCCGCCTCAGGGGTCCCCGGGTGTTCTGCCTGGTGACCGTAGGGAAGCCGGCATCCAGGCTGGGCCGCATTTTGGTATCAATGTAAAGAGGTTTGTTGAGGTCGGCCTTGGGGGCCTCCCCTTTGGGTCCCTGTTGAGACTCCTTCATGGCTCGGTCCCTTGCGGAGAGTGCCAGGGCCAGCGGGGAGCTGGGATCAAGCAGCCGCCCTGTGAGTGGGTGGACATAATTCCCGGGGCCGGCTGTGCCGCTGCTCGCGGAGGGCACTGCTGGGCTGCTCTCGGGCCCCTGGGCTTTGGACGTGGAATTCAGCGGCCTCCCAGCCTCACCCGGAGCACTGGCCTCGGCGCCACCCACGAAATGGTTTTCGGGCTCCCTGGGCGTGGCACTCGGCATGGGGGATGACAGCTGCTCAGCGCTGTCCTCGTCAGCAAAATCCCCCTCCTCGGGGAACATGGAGGGCCGCGTCCTGGGGGCGGGTGGCCCCAGGCCCACATCCTCATCCCCCAGGTCTGTGGAGAGGAAGGCCGGGGAGTTCCTCCTGGCTTCCAGCCGCTTCTCACGGTCGCGGACGGCTCCGGCGATGGCGGCGGCAAAGGGGCTGCTGACGGTCAGGCTTTCGTCAGGCCGCAGCTGGCTCGGTGGCTCCGGGGCCTGGGGGTCGATCTCCATGCTGCTGCCCTGGCTGCTCTTGCCGCTGCTGCTGGTGGACGGCTCCTTCACGATGATGGTCGGGATAGGGATGGAGCACGTCTTCTCGGGGCTGTCCTCCACGTTGGACTGCTTCACCAGCATCCCCTTCCGCCTGGCGGGCTTGGCGGGGACGTAGACGGCTTTGCTGGCGATCTTCCCCACCTCTGAGTATGGGTTTTCTGGCATCTGGCCTCTCTTGTTGCGGAAGTTGGCTTGCGGGCCGGCATTCCGACTGTAGAGGTCTTCAGAGTCCAAGGAGTAGCGGTCCAGCTCTCTCCTGAAGTACATCCCCTTCTCCCTCATCATGGTGGCCACGGTGTCGGACCTGGTGGCGGGGGACACCTTGGCGGCAGAATTCTGATTGAACGCAGGCTTAATCGTCCCGTAGACTCTTGGAGTTGGGGACTTGGGGCAGTTGTAAGTGGTTGGGGAAGGTGGTGGTGGGGACGGGGGCACAGACTGCGGTGGAGGGGGGATGTCCTCAGAGGTGTCCGGCATGGACAGGCTTCTGGTGAACTTCAGCATTGGAGGAGCCAGAAACTGCCGCTCTTCCTCTGTTATTCCTACAAGCAGAAAACAGGTTTAGCTTTAAGTCACAATAGCAACAAAGCCTAAGTTCCTAGGAACGTGCGATACGCTACATCTCCACAAACTCACAAATTCAGATGATGAACCGGATGTTCAGGAAACACAGCACAAGCCACGATGCCGAGTGGTTAGTCACATGGCCCGTCGTGAGCCAAAGGACAAGAAAGGGAAGAACAGAAAGGCACTGGGGATGCTGTGAGTACGCTGCTGCTGTGGGGCCTCCAGGCACAGGCTGCAGCAGGGGAGCTGTGTGAGGCCAGGGCAGGAGGGCCCCTGACGCTGAGCCGTGTGCCAGTCTGCAGGCCAAGTGGGCAGCTCGCCTTGGGGCTGCTTGTGCGTGTGTGTGTGCGCTTACGTGTGCTTGTGCTGGCATTGTGGCATTGTGCTTGGGGCGGGGTTGGCTAGACCAGGAGGTATCCTTCCACCAT | GAGAGACTGAAGATGCTGCCACCTGGGGAACAGCAAAATGGTGCACACCACAGGGAAGGAGAACCAAGAACCATAAGCCATCACGGGAGCCAATGGGGCTCCCCAAAGCCACAGACTGCTGAGCCCTGATACGGTTTGGATCTGTGTTCCCACCCAAATCTCATATGTGAAATTGTAGTCTCCAGTGTTGGAGGAGGTGCCTGGTGGGAGGTGATCAGATCATGGTGGGGGAGTTCTCATGAACGGTTTAGCACCATCTTCCCTGGCTACTGTACATAGTGAGCTCTCATGAGATCAGGTTGTTTAAATAGACTGTGGTACCTCCCCCGACTCCCTCTTGCTCCCCCTTTGGTGATCACTGAAAGTTTCTTGAGGCTTCTCCAGAAGCCAAGCAGAAGCCAACATCATGCTTCCCATATAGCCTGCAGAACTCGAGCCAATTAAACCTCATTTTTTTATAAATTACCCAGTCTCAGCTATTTCTTTATAGCAGTGCAAGAATGATCAAATATAGGCTCCTTCCAGACAGCCTCAGATAGAGCCCTCTGGTTGCGTCTAGAAATGACTCCTGACTTATTCTACGTTCAGTTCCAATGGAAATAATGTAAACCCTGCACAATACTGTGAAGGGCTGACATGGACACAGCTAGAGGCTTCTGCCCCTGGGACAGGATGGGCTGGCAGGGAAGAATGTACTGCACTTAGAGTTCACCAGTACAGCCATGACCCTGTGCCTCCCAAGCCCGCAAACCTGGTAGTGATGGGAGGGGAAGAAGAACCCACACGTGTATTCAGACACCTGCACCCACCGCCCACCCACTCGCTGCCCTCTTGGGGCAGCTAGTCTCCTGCAACCAACTCGAAGCTTGGTTTGGGCTTTGGCGAGGCTCTAAACGGCCTTCTAGGTGGTCCTGGCAGAGATCTGGAGGGCACAGAAGAGAGAGTAGAGCTTCTCTTTGGAAGCCAAGGTGAGGAGGGCTTCCAGCAACCTCATTTCATTACAAGTCTTTATGAAGGAGTGCTGTGTCCCACCAGGATGGCTGTGATCATTACTCGGCTATCCCGGAGTCCAGGAGCATGAGAAAAAGAAGTGTTACTGCATTAACAGACGTGGCCCACACAGGCTTTACGAATTCCCCTCTTCGTGTCCGCTGGGGCTGCTACCCGAGGGCCTTTCCTGGTCAGCAGGGACAGTGCACGCAGAGCGGTGTGCATGTGCACCAACCGCGGACTTACCTTGGAGCGAGGCTGGCGGACTTGGCTCCCATTGGTGAATCCAGTCCTTCCCCCGGCTTTGCCAATTTCTCTCGGTTCATTTGCTGTAGGATAGAGTTCAATTCACTAATAACGTTTGCCTTTGGGCCTGAGAGAATCGGGCTTTTGATCTCTGTGACGTCGCCCCACAACTTGGAGGTCCTTGGCTGGAGAACCTTGGCCATCCCAGGCTGGGCACTGCCCGGCGGGGGCGGGGGAGCGGGCGGGGGGATAACAAAGCTATCTACATCTTCTTCCACGAGCGCGTCTTGATAAAGTGCATTGCTTTTGTGAATGATGGGCTTCATTTTTGGCTTAGGAGGTACTGGGGGTTTGTCAACCATAAATGCTTGCCCATCTGCATAGACTGTGCAGGTGTCCACATTCTCTCCACCTTCGGAAGACAGGGTGGAGATGCTAGACACGGTGGAGATAGTGCTGGTCGTCTCGAGGTGGTGGTCGCTGCTACTCCGGCTGTCCACCTCCTCGATCCCAGAGTCGGCGACGGCGTCAAAGCTTTCAGGGGGTGGCAGGAATGAGGCAGGCAGACAGTTTGAAAGACTGGCTGGCTTCTTGCTGTCTGCAGAGTTGGTTGGTTGGCTGGAGTTCAACGAAGGGGACTGAGGGGTGTCGCTTTTCTTCTGCTTCACTAAGTCTGAGAGAGCCGGGACAGAAGCTGCCCGGTCATCGGGGATATCAAAACTATTTGCAAATTCCAGGGGAGGAGGCAATGGCTCTGTAAAAATAAAATCCTCATCCAAGTCCACGGATGCCAGAGGGGGAGGAGGGATGCGGAATGGCAATGGCAAAATCACCGCCTCTTCCATGGAGCCCACCGCGACGATGGTTCTGCCGGGCACGGTGGTGGGCTCGGGGGCAGCGGAGATCTGTAAAGCACCTTCGGTTTCGGAAACACCTTCTGGCACCTCGGACGGCGAGCTGTCTGGCTTCATCTCCACCTCTGCCTTCTCGTCCTCTTCCTGCAGGGCGTTGTCCAGCTTAGTGGCGTCCACGGTGTGCACCATCAGCAGGCCAGCCGACTTCTGCTGGGACGTGTCCATGATGTCGATCAGCATGTTCTTCTTGTCATCGCCTTTCCGGTCTCGGCCCAGGTCGGTCTCGTACTTGTTCTCCGTCTCCTGCCGCCTCAGGGGTCCCCGGGTGTTCTGCCTGGTGACCGTAGGGAAGCCGGCATCCAGGCTGGGCCGCATTTTGGTATCAATGTAAAGAGGTTTGTTGAGGTCGGCCTTGGGGGCCTCCCCTTTGGGTCCCTGTTGAGACTCCTTCATGGCTCGGTCCCTTGCGGAGAGTGCCAGGGCCAGCGGGGAGCTGGGATCAAGCAGCCGCCCTGTGAGTGGGTGGACATAATTCCCGGGGCCGGCTGTGCCGCTGCTCGCGGAGGGCACTGCTGGGCTGCTCTCGGGCCCCTGGGCTTTGGACGTGGAATTCAGCGGCCTCCCAGCCTCACCCGGAGCACTGGCCTCGGCGCCACCCACGAAATGGTTTTCGGGCTCCCTGGGCGTGGCACTCGGCATGGGGGATGACAGCTGCTCAGCGCTGTCCTCGTCAGCAAAATCCCCCTCCTCGGGGAACATGGAGGGCCGCGTCCTGGGGGCGGGTGGCCCCAGGCCCACATCCTCATCCCCCAGGTCTGTGGAGAGGAAGGCCGGGGAGTTCCTCCTGGCTTCCAGCCGCTTCTCACGGTCGCGGACGGCTCCGGCGATGGCGGCGGCAAAGGGGCTGCTGACGGTCAGGCTTTCGTCAGGCCGCAGCTGGCTCGGTGGCTCCGGGGCCTGGGGGTCGATCTCCATGCTGCTGCCCTGGCTGCTCTTGCCGCTGCTGCTGGTGGACGGCTCCTTCACGATGATGGTCGGGATAGGGATGGAGCACGTCTTCTCGGGGCTGTCCTCCACGTTGGACTGCTTCACCAGCATCCCCTTCCGCCTGGCGGGCTTGGCGGGGACGTAGACGGCTTTGCTGGCGATCTTCCCCACCTCTGAGTATGGGTTTTCTGGCATCTGGCCTCTCTTGTTGCGGAAGTTGGCTTGCGGGCCGGCATTCCGACTGTAGAGGTCTTCAGAGTCCAAGGAGTAGCGGTCCAGCTCTCTCCTGAAGTACATCCCCTTCTCCCTCATCATGGTGGCCACGGTGTCGGACCTGGTGGCGGGGGACACCTTGGCGGCAGAATTCTGATTGAACGCAGGCTTAATCGTCCCGTAGACTCTTGGAGTTGGGGACTTGGGGCAGTTGTAAGTGGTTGGGGAAGGTGGTGGTGGGGACGGGGGCACAGACTGCGGTGGAGGGGGGATGTCCTCAGAGGTGTCCGGCATGGACAGGCTTCTGGTGAACTTCAGCATTGGAGGAGCCAGAAACTGCCGCTCTTCCTCTGTTATTCCTACAAGCAGAAAACAGGTTTAGCTTTAAGTCACAATAGCAACAAAGCCTAAGTTCCTAGGAACGTGCGATACGCTACATCTCCACAAACTCACAAATTCAGATGATGAACCGGATGTTCAGGAAACACAGCACAAGCCACGATGCCGAGTGGTTAGTCACATGGCCCGTCGTGAGCCAAAGGACAAGAAAGGGAAGAACAGAAAGGCACTGGGGATGCTGTGAGTACGCTGCTGCTGTGGGGCCTCCAGGCACAGGCTGCAGCAGGGGAGCTGTGTGAGGCCAGGGCAGGAGGGCCCCTGACGCTGAGCCGTGTGCCAGTCTGCAGGCCAAGTGGGCAGCTCGCCTTGGGGCTGCTTGTGCGTGTGTGTGTGCGCTTACGTGTGCTTGTGCTGGCATTGTGGCATTGTGCTTGGGGCGGGGTTGGCTAGACCAGGAGGTATCCTTC | benign | 180,286 |
Assess the variant on chromosome 11, position 71094679, impacting SHANK2 (SH3 and multiple ankyrin repeat domains 2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autism,_susceptibility_to,_17', 'Neurodevelopmental_disorder'] | ACCCCTTTTGCAGAGTGAGGTGATCCAGAAAGCAGCACCAGGACCACCCTCCCCCAGGTCAAGGCAACCCACACCCTGAGTACCCAGTGCTTCTCCTGGGCTCCCCAGAATTAAGAAGGGTATAACCTGGCCGGGTGTGGTGGCTGACGCCTATGATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACCCGGGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATGAAAAATACAAAAAAAATAGCCAGCGTGGTGGCAGGTGTCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCAAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAGCTCAGTCTCAAAAATAAAGGGGGGGGGGGGCAGGTATAACTTTAGACAACTACATTTCTAGTTCTGAAATAGCAAACAGTGCCCAGAAATGCAGGGCAGGCTGACATTTGGGAGACGAGGAGACCTGCAGCACTCAGACCCTTCCTCGGCCTGGTCAACATTTTGTGCCAGTGGTGTGGCATGGGCAGCAATACAGTGACTGCAACATTTGCGGAAGAGAGAAAAGGTGCATGGTTTAACCTACATGCCCAGTGGAAAACCACCTCATTCCGCACGCTGAGGGTGGCGAACCTAGCAAGCATCGCGTCTTCAAGAATGCTCCTGATTTCCGAGGAAGCCAACGGGTACGGTGTGGCTCTGCGTCCCCACTCAAATCTCAATTCAAATTGTAACCCCCAGTGCTGGAGGTGGGGCCTGATGGGAGGTGATGGGTCATGGGGGCGGATTCTCAGGAATGGCTTAACACCACCCACTCAGTGCTGCTTTCGTGATAGTGAGTGAGTGCTCATGAGATCTACTGTTTAAAAGTGTGGCATCTCCTCCCTCTCTGTCTTCCTCCCACTCCGGTCACAGGAACTGCCTGCTCCCGCTTCACCTTCCACCATGATTGGAAACTTCCTGAGGCCTCCCTGGAAGCAGAAACTGCTCTGCTTCCTGTACAGCCTGCAGAATCATGAGCCAATGAAACCTCTTCTTATAAATTACTCCGATCTCACATTTCTTTATTGCAACGCAGGAACAGACTCACACACCAACAGAAGGGGTGCAGCTGAAATGAAGTGAAAGTCCTGAGACTTTAGGGACAGCGAGGCCCCCGTCTTGGGGGTCAACCTGCAGCGGCACGTCCCATCCCTGCTGGTGTGGGCTCTGGTGGAGGATGCCTGGGCGTGCACCACCCTGTCCAGAGGCGCCGTGGCTGCAGTGTGAGGCAGGGGCACGGAGCAGTAAGACAGCAGCAGGGGAAGGTGAGGCGCGGAACCCACAACAGGGCAGGCTCCCACGGACCCGCCACAGGGTGCTGGGGGGATCTACCATGTGGCTCTGTGTCCCCTCCCAAATCTCAATTCGAATTGTAACCCCCAGTGCTGGGGGTGGGGCCTGGAGGGAGGTGATGGGTCATGGGGGCGGATTCTCAGGAATGGCTTAACACCACCCACTCAGCGCTGCTCTCATGATCATGAGTGAGTCTTCCTGTGGATGGGGTTGGGGTTCACCACTGGCCTTACGGGTTGAAAAGACAAGTCCCTTGACTGAATAGAAGGTGAAAGATGACTTCTTGGGAACCATTAATTCTGAAAGCATCGACAACCAGGAGAGAGAACAGGAAAATCTGAAACCTGGCTTCACTTCCAAGCTCCAGCCGGAACACTGTGCACGGACTCCTAGGGTGGGCCGGAACACTGTGCACGGACCCCCTAGGATGGGCACTGCGGGGATGGGATGGGGCAGCCGCACGGAATCAGAGCACGGGGTGGCACCCAAGTAAGATGGGCCCGAGTTTACCTTCAGGGCAACTTGGTTCCTCGCTCGGGCAGCTTTGTGTAGGGCGGTCATCCCATCTTTGGCACGGAAGTCCAGGTGAGCTCCACCATTTTTGAGAGCTTTGATGACCTCCACAGAGTCGTCCAGCTGAGCGGCTAAGGTCAGGGGGGTCTCTGAGGAACCCAAACACACACACTTTAGAACCAACATTTGTCACACTGCTCACAAAGCCATATTCAGATGCCCAAAACTAAGCTGAAAGAACTGACTCCCCTCCTCCACCTCCAGGGTGTTTACAGCTCCCACCACCTGGGAACCCCAAGAGTCCAGGCGGGCAGCGTGGCTCAGGCACCCCCGTGCGATGCAGTGACACGCAGGGCCACGCGTACAACACAGCGGTGGCAGAGGCAGGGATTCAACAGGACTGCTGTGTGGGCCACAGTCCAAGAGGCTCCCTTGCTGCCCTTCCCTCTGAGTACACAGAATCCTGTGGTACCATCTGGGTGCTTCCCGTACAGAAGGAGTGACGGACTAAAGCCCTCATTAGAGATGGGAAAGGCAGACACCCACCTTTCCTCATTCAATGTCACATTTATGGGCATCTTGGGAGATGCCAGCCATGGGCTGCAGGGACACAAACACAAATGAGACATGAAGTCCGTGCCCCCTGGAGCTCCCAATCTGGGTAAGTGGAAACCTTCCTTCATTAACGCGGCGCAGGATGACCCAGGAGGCAGGGCAGAGGCCCAGCAGACAGAAGGATGCCGTCTGCCTTTGTAGGGACAAGGGTCCCGTGCAGATGACCCTGGACCAGTCTGCAGATGAGCGTGGCTAAGGACGTCAGTGTCTATTACAACAAATCTTTCCGTCCACTCTTCATCTTTCTAATATGCCCACCATGGCCACTGCTAAACAAGAGGAACTACTTTGAGGTCCTCTTTTGAGAGTTCCTCATTTGAGAGGCTCTTAACGTTCCAGAAAAGTGCACAGAGTACCAGGACAACACACAAGTTCCCATGACCCAGAAACACCAACAATGAATATTCACTCGGTCTCGAAGCACATTCCAGTGAAAGAAAACTCGGATGCCTTTCACAAGGCGTGTGTCTTGCTGACCCCTCACCCCATCCCATCCCCCTCCATCCCAGAAAGGGCACCTGCCTTGTGAGTGTGCACTGACTATTCCCATCTATTTTTAATTGTGATGTTTACTTATCCATACATGGGTACCCTCCTGAGGACTTTTAACATTCACCCTAGGAACCACTCTGCAGCTTGGCACTTCATGGTGATATGCACATGCTTAACCCCTCCATGTCAGGAGTGTGCTGTGTGTAGACATGCCAGCATCTTCATTCATCCTGTCTCCATGTGAAAAGCAGGCTTCCTGTCTTCCCCAACTAGGATGCTGTGTGTAGACATGCCAACATCTTCATTCATCCTGTCTCCATGTGAAAAGCATGCTTCCTGTCTTCCCCAACTAGAATGCCGTGTGTAGACATGCCAGCATCTTCATTCATCCTGTCTCCATGTGAAAAGCAGGCTTCCTGTCTTCCCCAACTAGGATGCCGTGCGTAGACATGCCAGCATCTTCATTCATCCTGTCTCCATGTGAAAAGCAGGCTTCCTGTCTTCCCCAACTAGGAACGATGTTCTCATGAATGAATGCCATTGCACATGACTCTGTTGCATACCCTCCTGATGCAGAAGTTTTAAAGAAAAATAGAAATTTTCTGGGACTAAGGGACTTCAGTGGCAGTGGGGGATGTTTCTTGCATAGAAAACAGCTACAAGGCAAGGAAGGCTCAGCAAGGGGTGTGGGGATTGAGACCAGTTGGAACATGGCCAGAGTTCCACATGTGCACAGAGAGGTGGAAATGGGGCAGACGCCAGAGAAAAACAAACTCAAGGGGTGACCCCTGCCTGCTAGAGAGAGGAACAGTCAGCCCCTCATTCTCTGTCTCTTCCCTGGTGGCATCCAGGCTGAAGCACGAGTGTCCGAGGGCATCTGGGGAGTTTATTCCTTGGAGCATAAAGGCCACCATGGGAGAGTGGACAGTCAGGGAAGTGACTGATCCTCGAAGGGCACGAAAAGACTGGGGCTGTCGGGAGCCACCAATATCGACGCTGAACATTCAAATCTTACAGCGACTTAATGAGCGTGTGACACTCGTTCGGGGCAAGGTTAGCCTTCAAAACAGTTAGGATTTT | ACCCCTTTTGCAGAGTGAGGTGATCCAGAAAGCAGCACCAGGACCACCCTCCCCCAGGTCAAGGCAACCCACACCCTGAGTACCCAGTGCTTCTCCTGGGCTCCCCAGAATTAAGAAGGGTATAACCTGGCCGGGTGTGGTGGCTGACGCCTATGATCCCAGCATTTTGGGAGGCTGAGGCAGGTGGATCACCCGGGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTATGAAAAATACAAAAAAAATAGCCAGCGTGGTGGCAGGTGTCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGATCCAAGATTGCACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAGCTCAGTCTCAAAAATAAAGGGGGGGGGGGGCAGGTATAACTTTAGACAACTACATTTCTAGTTCTGAAATAGCAAACAGTGCCCAGAAATGCAGGGCAGGCTGACATTTGGGAGACGAGGAGACCTGCAGCACTCAGACCCTTCCTCGGCCTGGTCAACATTTTGTGCCAGTGGTGTGGCATGGGCAGCAATACAGTGACTGCAACATTTGCGGAAGAGAGAAAAGGTGCATGGTTTAACCTACATGCCCAGTGGAAAACCACCTCATTCCGCACGCTGAGGGTGGCGAACCTAGCAAGCATCGCGTCTTCAAGAATGCTCCTGATTTCCGAGGAAGCCAACGGGTACGGTGTGGCTCTGCGTCCCCACTCAAATCTCAATTCAAATTGTAACCCCCAGTGCTGGAGGTGGGGCCTGATGGGAGGTGATGGGTCATGGGGGCGGATTCTCAGGAATGGCTTAACACCACCCACTCAGTGCTGCTTTCGTGATAGTGAGTGAGTGCTCATGAGATCTACTGTTTAAAAGTGTGGCATCTCCTCCCTCTCTGTCTTCCTCCCACTCCGGTCACAGGAACTGCCTGCTCCCGCTTCACCTTCCACCATGATTGGAAACTTCCTGAGGCCTCCCTGGAAGCAGAAACTGCTCTGCTTCCTGTACAGCCTGCAGAATCATGAGCCAATGAAACCTCTTCTTATAAATTACTCCGATCTCACATTTCTTTATTGCAACGCAGGAACAGACTCACACACCAACAGAAGGGGTGCAGCTGAAATGAAGTGAAAGTCCTGAGACTTTAGGGACAGCGAGGCCCCCGTCTTGGGGGTCAACCTGCAGCGGCACGTCCCATCCCTGCTGGTGTGGGCTCTGGTGGAGGATGCCTGGGCGTGCACCACCCTGTCCAGAGGCGCCGTGGCTGCAGTGTGAGGCAGGGGCACGGAGCAGTAAGACAGCAGCAGGGGAAGGTGAGGCGCGGAACCCACAACAGGGCAGGCTCCCACGGACCCGCCACAGGGTGCTGGGGGGATCTACCATGTGGCTCTGTGTCCCCTCCCAAATCTCAATTCGAATTGTAACCCCCAGTGCTGGGGGTGGGGCCTGGAGGGAGGTGATGGGTCATGGGGGCGGATTCTCAGGAATGGCTTAACACCACCCACTCAGCGCTGCTCTCATGATCATGAGTGAGTCTTCCTGTGGATGGGGTTGGGGTTCACCACTGGCCTTACGGGTTGAAAAGACAAGTCCCTTGACTGAATAGAAGGTGAAAGATGACTTCTTGGGAACCATTAATTCTGAAAGCATCGACAACCAGGAGAGAGAACAGGAAAATCTGAAACCTGGCTTCACTTCCAAGCTCCAGCCGGAACACTGTGCACGGACTCCTAGGGTGGGCCGGAACACTGTGCACGGACCCCCTAGGATGGGCACTGCGGGGATGGGATGGGGCAGCCGCACGGAATCAGAGCACGGGGTGGCACCCAAGTAAGATGGGCCCGAGTTTACCTTCAGGGCAACTTGGTTCCTCGCTCGGGCAGCTTTGTGTAGGGCGGTCATCCCATCTTTGGCACGGAAGTCCAGGTGAGCTCCACCATTTTTGAGAGCTTTGATGACCTCCACAGAGTCGTCCAGCTGAGCGGCTAAGGTCAGGGGGGGTCTCTGAGGAACCCAAACACACACACTTTAGAACCAACATTTGTCACACTGCTCACAAAGCCATATTCAGATGCCCAAAACTAAGCTGAAAGAACTGACTCCCCTCCTCCACCTCCAGGGTGTTTACAGCTCCCACCACCTGGGAACCCCAAGAGTCCAGGCGGGCAGCGTGGCTCAGGCACCCCCGTGCGATGCAGTGACACGCAGGGCCACGCGTACAACACAGCGGTGGCAGAGGCAGGGATTCAACAGGACTGCTGTGTGGGCCACAGTCCAAGAGGCTCCCTTGCTGCCCTTCCCTCTGAGTACACAGAATCCTGTGGTACCATCTGGGTGCTTCCCGTACAGAAGGAGTGACGGACTAAAGCCCTCATTAGAGATGGGAAAGGCAGACACCCACCTTTCCTCATTCAATGTCACATTTATGGGCATCTTGGGAGATGCCAGCCATGGGCTGCAGGGACACAAACACAAATGAGACATGAAGTCCGTGCCCCCTGGAGCTCCCAATCTGGGTAAGTGGAAACCTTCCTTCATTAACGCGGCGCAGGATGACCCAGGAGGCAGGGCAGAGGCCCAGCAGACAGAAGGATGCCGTCTGCCTTTGTAGGGACAAGGGTCCCGTGCAGATGACCCTGGACCAGTCTGCAGATGAGCGTGGCTAAGGACGTCAGTGTCTATTACAACAAATCTTTCCGTCCACTCTTCATCTTTCTAATATGCCCACCATGGCCACTGCTAAACAAGAGGAACTACTTTGAGGTCCTCTTTTGAGAGTTCCTCATTTGAGAGGCTCTTAACGTTCCAGAAAAGTGCACAGAGTACCAGGACAACACACAAGTTCCCATGACCCAGAAACACCAACAATGAATATTCACTCGGTCTCGAAGCACATTCCAGTGAAAGAAAACTCGGATGCCTTTCACAAGGCGTGTGTCTTGCTGACCCCTCACCCCATCCCATCCCCCTCCATCCCAGAAAGGGCACCTGCCTTGTGAGTGTGCACTGACTATTCCCATCTATTTTTAATTGTGATGTTTACTTATCCATACATGGGTACCCTCCTGAGGACTTTTAACATTCACCCTAGGAACCACTCTGCAGCTTGGCACTTCATGGTGATATGCACATGCTTAACCCCTCCATGTCAGGAGTGTGCTGTGTGTAGACATGCCAGCATCTTCATTCATCCTGTCTCCATGTGAAAAGCAGGCTTCCTGTCTTCCCCAACTAGGATGCTGTGTGTAGACATGCCAACATCTTCATTCATCCTGTCTCCATGTGAAAAGCATGCTTCCTGTCTTCCCCAACTAGAATGCCGTGTGTAGACATGCCAGCATCTTCATTCATCCTGTCTCCATGTGAAAAGCAGGCTTCCTGTCTTCCCCAACTAGGATGCCGTGCGTAGACATGCCAGCATCTTCATTCATCCTGTCTCCATGTGAAAAGCAGGCTTCCTGTCTTCCCCAACTAGGAACGATGTTCTCATGAATGAATGCCATTGCACATGACTCTGTTGCATACCCTCCTGATGCAGAAGTTTTAAAGAAAAATAGAAATTTTCTGGGACTAAGGGACTTCAGTGGCAGTGGGGGATGTTTCTTGCATAGAAAACAGCTACAAGGCAAGGAAGGCTCAGCAAGGGGTGTGGGGATTGAGACCAGTTGGAACATGGCCAGAGTTCCACATGTGCACAGAGAGGTGGAAATGGGGCAGACGCCAGAGAAAAACAAACTCAAGGGGTGACCCCTGCCTGCTAGAGAGAGGAACAGTCAGCCCCTCATTCTCTGTCTCTTCCCTGGTGGCATCCAGGCTGAAGCACGAGTGTCCGAGGGCATCTGGGGAGTTTATTCCTTGGAGCATAAAGGCCACCATGGGAGAGTGGACAGTCAGGGAAGTGACTGATCCTCGAAGGGCACGAAAAGACTGGGGCTGTCGGGAGCCACCAATATCGACGCTGAACATTCAAATCTTACAGCGACTTAATGAGCGTGTGACACTCGTTCGGGGCAAGGTTAGCCTTCAAAACAGTTAGGATTT | pathogenic | 180,300 |
Benign or pathogenic: chromosome 11, position 71435202, gene DHCR7 (7-dehydrocholesterol reductase) variant? Disease(s) if pathogenic? | benign | TCCTTCATTCTGGAAGGGGGCAAAGGCCAGGCCAGCTTCCCAGGGATCAGGCACTGTGGCTTCACTGGGAACAGAATGCTCTCTGTACATGGAGAATGGTAGAGGCTGGCACTGTCTAATCTGAGCTCCTGGATCACCCTGTTCTCGCCCAGAGAGAAGCTGGCTCCATCTGGGGATGAGTGAGGGCAGACGTGTCTGGTGGGACAGAGCCTGGGCCACAGCCTTGCACCTGCAGAACCCATTGTACAAACACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCAC | TCCTTCATTCTGGAAGGGGGCAAAGGCCAGGCCAGCTTCCCAGGGATCAGGCACTGTGGCTTCACTGGGAACAGAATGCTCTCTGTACATGGAGAATGGTAGAGGCTGGCACTGTCTAATCTGAGCTCCTGGATCACCCTGTTCTCGCCCAGAGAGAAGCTGGCTCCATCTGGGGATGAGTGAGGGCAGACGTGTCTGGTGGGACAGAGCCTGGGCCACAGCCTTGCACCTGCAGAACCCATTGTACAAACACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACNNNNNNNNNNNN | benign | 180,311 |
Variant at chromosome position 71435453, chromosome 11, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Inborn_genetic_diseases', 'Smith-Lemli-Opitz_syndrome'] | ACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCA | ACACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCACAGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCA | pathogenic | 180,316 |
Clinical significance of chromosome 11, position 71435454, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['DHCR7-related_disorder', 'Smith-Lemli-Opitz_syndrome'] | CACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAG | CACAGTGCATGGAAGAGGAACCTGCAGCCCAGCACAAAGCTGCTCAAACAGAAACCAAACCAAAAGCTAACCTCAGCCAATTCAGAGGCAGGTCCACATCTGAACCAAGAGCTCTCCCAGCAAATTGGCCTGGAAAGCCCTTCTCACATCAAGGCAGGAAGATAATAATGACCCTCATCTTTCAAAAGAGGAAGCTGAGACACTGAGAGGGTAGGTCCCCTGAAGGTCATACAGCTCTTAAATGCTGGGGCCAGGATTCCAACGCAGGCAGGGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGN | pathogenic | 180,317 |
Gene DHCR7 (7-dehydrocholesterol reductase) variant at chromosome 11, position 71435725—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTG | GGAGGCCCGGATCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTC | pathogenic | 180,347 |
Variant chromosome 11, position 71435736, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Disease(s)? | pathogenic; ['DHCR7-related_disorder', 'Smith-Lemli-Opitz_syndrome'] | TCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCC | TCTGAGCTCACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCN | pathogenic | 180,348 |
Is the genetic change at chromosome 11, position 71435745, within gene DHCR7 (7-dehydrocholesterol reductase) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | ACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCA | ACAGTGACCACACCCCAGCCTCTGTGAACTGAATTTACGCAATGTCTGGGAAGAAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAN | pathogenic | 180,349 |
Clinical significance of chromosome 11, position 71435798, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | AAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAG | AAAAGGCAGGGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGN | pathogenic | 180,353 |
A mutation at chromosome position 71435807 on chromosome 11 in gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAG | GGTCCACTCCGCTCAGAGCCATGCAGGGCAGTGTGCTCCCGTCTCCCCGGCATTTGAATCACTCTTGTGGTGTGTGTCCAGCACAGATGCACGGGACCCCTCAGGCCCATATCCTCAAACAGGTAGTGGTGGGGCACCAGTGCACGAACACTAGGGCTCAGCAGTCAGCCTGGGCGGGTCACAGTTCCGATACCCTCCAGGCTGTCTGGGAGGCGGCCTGGCTGTGGGACCAGTTCTCATGTGAAGCAATGAAGCCACTCTGAGCTTGGCCCCCTGCCCTGGCATGGGCACTGGGCTGCCTGTGTGAAACTCTTGTTTCTCCAGGTGCAAGACAAACCTGGCACTCTTTCTGGCTTCTCCATTCACTTGCCGGGGGCAGGTGGCCAAGCCTGGTTTCATCTCCTTGGGGGGGAATGGAATACTCTCCACATTCAACCCAAAAACAGCCCCAGCAAAGGGCTGACATGGGAGGGAGAGGGGCAGGGTGGCGCCACGCACCCACGGGCACCCAATGCTTTGACGCCGAGACCCAAGCATCTCTCTCAGACATCCCTTCTCATACCAGAAACAGAGCCCACGTATACCAGTCAGACCTGCAGTCAGGCCCATTCACGAGTCAGGCCCATTCACCAGTCAGAAACCACACAGCCACTTATTTGAACAGGGGAAGTTTAATATAAAGATGAACTCTACTCGGAGCATAGAGTTTAAAAAGAGTTCTACACAACACCCTAGGGATGAGGAAGAATGCCTCAGGGAAGAAAGCACAGAAAAGGAGGTGCCCTCCCGAGGCTGGGACTGAGACCTCCTCGCTGGAGAAGGTGTGGGAGGCCCCTGAGGGTGAAGTTCCCCGGGTTGCTCGAGCCAGAGTCTGCACAGTCATAGGGCAAGCAGAAAATTCTTTCGAGAGGGTGGGCGCTCACAGGGAATCGGGAAGCAGAGCCCACCTGCCTACACCTGAAAGGCCACAGCCGGTGCTGGGACCTCTCTGAGGTCTGCAGACTCCAGGCAGAGCACTCCTGGCAGCTGTGCAGCAGGAGCAGGAAGGAAACGACATGAAAGCCCCTTTCTCCCCAGTGTCCCAGTTCAACACCGTGCACGCTACCAAGGAGAAACGGCGCACGGGCCCCACCCACGACTGCAGAGCAGGCAGGGGAGGGGGATCTAGAGCTGAAAGGCAATACATGGATAACGCGCACGCCCCACTCCCACTTTTATTTAGCAAGAGTAAATGCAGCCTAATGACAGGGCGTGGGAAGACCTCCTGCTCACCAGTGTGGGCAGAGTGTAGCGTGGCCTGGGCTCCTAATACAGGTAAATTGTCTCCAAAGGACTAGTAAAGGTGACTGGGTCATCCTCCTGCCCCAGGGACACTGATTAGAGAAAATCCGTCTGTGCTGGCAATACGGCAGTGCTGGACACTCGGAATTCCCTTGAAGGCAAAAGCAAGGAACAGAGCGTGATTAGGTACTGGACACCTGCCAAGTGCTGGGCTCTCTCCAGTTTACAGATGAGGAAACTGAGGCTCCTCGAGTTGGAGCTGGGATGCCAGCCCCCATGGACCTGGCAGAACACGCTCTTGACAGCCCCACAGGGCTTCTCCCTAGGGCGTGCCCTTAGAAGATTCCAGGCAGCAGGCGGTAAGGCACTGCGGCGGTGTAGCGCTCCCAGTCCCGGCCGTACTTGCTGGCGCAGCGGTGCTCGTCCCGGAGGCAGCGGTGGGTCAGCAGGATGGCCATGTAGATGATGTAGAAGTAGGGCAGCAGGTGGCCGCCGCCACAGGCCAGGCAGTAGGCCAGGCTGCCCATCAGGTCGCCGACGTAGTTGAAGTGGCGGGCCACGCCCCAGAAGCCCGACACCAGCAGCTTGCTGTGGTGCCTCTGCCCATCGGCGGATGTGTAGGAGCACTCGATGACCTTGGGCTTCCTGCCCCAGATGAGGCAGCGCCCATCCGTGCGGCGGAACAGGTCCTTCTGGTGGTTGGCCACCCGGAAGATGTAGTAGCCCACCAGGCCCAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGN | pathogenic | 180,354 |
Determine whether the variant at chromosome 11, position 71437822, in gene DHCR7 (7-dehydrocholesterol reductase) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | CAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAA | CAGCAGCAGGACGCCCACGGCGTGCGGGGTGGACAGCTGCACGGGGTGGTACACCAAGTACAGACCCTGGGGGGCGAGGGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAAN | pathogenic | 180,366 |
Is the genetic variant on chromosome 11, position 71437900, gene DHCR7 (7-dehydrocholesterol reductase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGAT | GGGGAAGGGGTCAAGCGGTGCTTTGCCCAGGGAGAGGACAGGAGTGTGGGCTCGGGGGCCCAGCGGCCTGGGGTCAAACCCCAGCTCTGCCTCTGACACACGCCTTGCCTCCGTGTTCTCTTCTGTGAATAAAAGCACCAACCTTGAGGGCTGTTGTGGTCATTAAATGAGTAACTCTACCTGCCTTCTACCTGTCTGTGTGTGTATGTGTGTGTGTATATATACCCCCTATATATATGACATATAGCATAAACATCAAATATGTAACAGTATTAAAAATATAATCTGAATTTAATATTGTGATGGTCAATTTAACGTGTCCACTTGGCCAGGCCATTGTTCCCAGATATTTGGTCAAACACTAGTTGTAAAGGCATTTTTCAGATGAGGTTCATATGTTAATCAGTCAACCAGGCAGAGTGGATGACCCTTCACAATGGGGGTGGGCCTCATCCAATCAGTTGACAGCTTTAAGAGACAGAAGACCCACCTTCCCCAAAGAAGAGGGAATCTGCTAAAAAGTGGCCTTCTGGCCATGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACGAGATCAGGAGTTTGAGACCAGCCTGACTAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAATTAGCTGGGCGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCTAGCCTGTGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGTGACCTTCTATTTAAGCACAGCATCAACTCTTCCCTGGGGCTCCAGGCTGCCCTGAAGATCTTGGACTTGTCACTCTTCAATCACATGAGTTGAAAAATACATCTCTTTCTTACACGTATACCCTCCACCCCTCTATTGATTCTGCTTCTTGGGAGAAACCTAATATATAGTATAAAAAATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATN | pathogenic | 180,374 |
Benign or pathogenic: chromosome 11, position 71438906, gene DHCR7 (7-dehydrocholesterol reductase) variant? Disease(s) if pathogenic? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | ATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATTGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCC | ATGTACATCTCGAGACACACACAGAGGCTAAAGCAAGTAAGAGCTATTATATAGTGGGACCTATTGCTACGTTTTCACATCCTTGGAAAATGGAGTTTATAAAACCAGGGAACCAGCAGACCTGCAGCCAGCCAGGTGGAGAAATGGGGCCGGGTGGGCCATGCGGGGGGCTCCAAGGACCTGGTGTGAGCATGGGGCCAGCTGGGGCTCTGCACCCTCCACCTGGTACTGGCCCCCTCTGCTGTGGGAATCCTGGTTTTCCAGGACACCCGCACCTCCATCCCACAGGACTGGCTGTCACAGGTGATGCCGGGCCTGTCACATCCTGAATAGGTGACAGCCTCTCCACGTTGGTTCTCTCCACTTGGGCACAGCCTCTTGGGGCAGGCCACCCCACCGTTCTGCTAAGCAAGTGCCCTGGGGTGAGTTATTTCTGTCCCCAGGGGGCTCGTTGCTCTTGAAATGGGCAGGTGGCATCTGGTCAAGCAGCCACCTTACCTGGGAGCCCAGCACTCTCCCCAAATCAGAGCAGGGCTGCTCTCGTTGAGCTGGGAGGGGAGTGGGGGGCTTGATGCCAATGACAAGGCCACTTGCTATCCCCTACTGTCCTGGAACTCCCAGGGCAGCCCTGCCCCAGTGCCCAGCACATCCTAGGAGGCAGGAATGAAGAGGACCCCTCCTGCCAGTGCCCGCACTGACCCACCTCCACCTCCACTGCCCCATCCAGCCCTGAGCCGGCATCTGCCCTACTTTGCAGATGTTAGGGACATACTCAAGGCCACCTCCCTGGCTGCTGGCCCAAGCTGGCTGAGCTGGCTAATACACGAGGCCTTCCCTTCTTCCTAGAAACAGGGGGCAGCTTTGGTGCCCCCAAGGACAGACGCTTCTGCAAGGAGAAAGCTTAGCATGTGTCTGCCAAATGCCCCGCTGGGCCAGCTCTGCCCACCTCCTCACCTGCAGCGTGTAAAGATAAGGCAGCCAGACACAGTCGCCCCAGCCCAGGTACCACCCGAAGTGGTCATGGCAGATGTCAATGGTCTTCAGGTACCAGGTTTCGTTCCAGAAGAAGTCAATCACGTAGATGGCCTGCAAGACAGAAGCAGCCGCTGACCACCCCCGGCCCTCCTGGGGCCCCCATGGACCTCGGGGAAATCACACTCCACGCAGATGCAGCAGGGGGTGCTCGGGAGCTGCTCAGCAACTTCCTCAATGCTGGGGCTGTTCCTTCCCTGCGGCTGGGGCTGTTCCTGCCTGGGTCATGGGCAGGGCTAAGGGCTTCCTTGTCCTCAGAACCACCCCGAGCCCATGGCCCTGGCATCTCTCCCAGCCCAGGTTCTCAGGGCTTGCAATGGCGCGTGCCAAGGGGAAGGGATACATTCATCCCATCCAGGTCAACCTCCTGCCCGAGCAACGTCCACAGCTCCTGACAGGCCTCCCTCACCCTCTCGGGTTCTCCTAGCCAGCTCCCGCTGGCTCCCTGGGTGACGCTTCCGAATGCACCTGATCGCTGCCACCCTGCACCCCAGCTCAGCACACACTTTCTGGGTCTTGCTGCTTTTAAGATAAAGAGGAAGACTTCCATGAGGCCTCCAGCCTCACCTGGCTCTGAGCTCCTGAACGCTCTCTGGTCAGGATGCGGGATGTTTCTGAGTGTCCCAGACTTGCCACCCTCTCTCCCTACAGGGGGTTCCTGGAGCATGCACTCTTGCCTCCACTCTACCAGGTTAACTCCCACACACCCCCAGATTCTACCCAGGTGTAATCCCCAAGGGAGACCTTCCTGGACCACGCCTGGCTGCGTAGAACCTGCCTCCTCCCCTCCCAGGGCTGGCAGAGACAGGCACCCAAGGATGGCTTCCTTCACCAAGTGCTCGCCGGCTGCTTCCTGGTGACACCTGGGGAGGGCAGCTGACTCTCTTTTACAAGCAGTAGATTAAGGTCATGGGAATACGCTCTGGCTTGCGGGTTCCCCCAGAGCCTGCCGGCATCGGCGTTTCACCCTCTCCAGCCATGACAGGCACCTGCAGGACGTTGACCAGGACCATGGCATGGTCACATGGCTGTGGAGCTCCCGCTGCTTCGCTGCGAAGGACAGGTTGATGAGGGTCCAGGCGACGATCCCGGGGCGCCCATTGAAGAACAGCTTGAAGTCAAACCACTTCCCGATCCGAGGGTTAAACTCGATGCCCATCATGTAGTTGTAAAAGAAATTGCCTGTGAATTTGCTTAAAAATATAAATAAAAGATACATTTAGTGGATGAGCATATCTCACAAGATGAAGCCACCTTACTTAGCGAGAGCCCAGCACTGGCCCAGGGTCCTAAAGGGTAACGTGAGACGGCGCAGGCAGAAGCTGGCCATGAGCCGCTGGGACCCCCACGGCTGGAATGCTTGTCGGCTGGTTCCTGGCGCCCTCATTCACTTTGCTTTGCATTCAGCTGCTGCTCAGCAGAGACTTCCTTAGGCAGAAGCCCAGGGGCACCTGCTCTGCACCCGGGAAGGGTGGGAGACCGGCCCTGGGCTGGTACCTGGGTTTCTCTCTACCCTTCTCCAGATGCCCTTGACGCATGGCACAGGTGAGCTGAAGAACTGGCTTGATTGCACTGAGATTACGTTCTGGGGCCCAAGCACACGGTTTGAAGCCGACGCAGGGCACGTGGGCCCTCATGGGTGAGTGACATTATAAATCACGCCAACGTAGAGAATGACAAACGCACCCTGGGCCCGGCTTCCAGCATGTGCAGGACAAGTTCTTTGACCAGTTACCTGAATCCCCCAATCCCCGGAGGGCCAGAGCATCAGCCGAGATAACCCCTGTGGAGACCCTGACTAGGTCTAGCTGGCTGAGGACACACAACAATTTCTGTGTTAACTAGAAAATCCTATTTTCATGTCCAGTTCCCTCAGGTAGGGTAAGTAGAAAGAAGCAAAACACACAAAGTCTACATGATTATAAGGTAGCGAGGATGATTTCCAGGAGCCATTGAAGGCCAGCCTCGTTATCTGATAACACACAAGCTACAAAGTGTCATCCTCCAGAAACATTTCCCAAGAGCCTAGGTGTAAACCACACTGGGGTTTTTTGGATCCCCCAAACTGAACTGTAAGTCCCACTGCCTACAACTGTCCACAAGAGAACCCCCCAAACATTGGTTTATGATGGATGGATGGATAGATAACAGGGTGAGTGGGTGGAAGGATGGATGAATGGGATGGGGAGAGGAGCAGGTGGATGGATATATGATAGGCAGGGTTGAGCTGGGGTGCAGGGTGGCAGGGATCAGGTGTGTTCAGAAGTGTCACCCAGGAAGCCAGAGGGAGCAGGCTAGGAGGGCCTGAGAGGGTAAGGGAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCN | pathogenic | 180,388 |
Variant in gene DHCR7 (7-dehydrocholesterol reductase), located at chromosome 11 position 71442257: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['DHCR7-related_disorder', 'Smith-Lemli-Opitz_syndrome'] | GAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGGAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTT | GAGGCCGGTCAGGAGCTGCGGACATTGCTCAGGCAGGAGGTTGACCTGGATGAGATGATGCATTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGGAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 180,433 |
Variant chromosome 11, position 71442319, gene DHCR7 (7-dehydrocholesterol reductase): benign or pathogenic? Disease(s)? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | TTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGGAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCG | TTCCTTCCCCTCGGCACATGCCATTACAGGCCCTGATAGAGTGGATGGATGGGTAAATGGATGGATGACGGGCAGGTGGATGGGTGGGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATAGGTGGATGGACAAATAGATGACGGGTGGGTAGACAGACGGGGTGGAGGGTGGATGGGCAGGTGGATGAGATGGATGATGGATGGGTGGGTGGGTAGGTGGAAGGATGGGGAGATGGGCAGGTGGATGGGTGTGTGGCTAGATGTGTAGGTGGGTGGGTAGGTGGATGGGCAGATGGATGAATGGGTGATGGGAGGGTAGATGGATGGATGATGGGTGGGTGGATGTGGGTGATGGATAGGTGGATGGATGATGCATTGGTGGGTGGGTGAATGGGATGGGGCAATGGGTAGGTGGATGATGGGTGAGTAGGTAGATGAATGGGTAGGGGGGTGGATGGGTGGGTGGGGAGATGGGCAGGTGAATGGATGAGTGGACAGAGATGAGTGGCTCACCACTGTCCAGCCATGGGAATGGGTACAAGCCAGCAGGGCTCTCCTGGGAAGCTGTTAATTAAAGCCACAGGGACAATAAGACTCTTCACTAAGGTTGTTTTGGGCCTCACCAGCTTATCCAAAGAAAGAGGCAATGGGCTGCCTGTGCCCCAAGCCAGAAGTTTTTCCTGGCTTCCTTACCCCCACGCCAGCCCTAAAGGCAATGACTTGGCCACCACAGCTGACCTGGCCATCTTCAGCTGCATTCTTGCCAAGGCTGGAGAAGCCACCAAACATTCAGAAAGGATGTTCCCCAGGGTGAAGCAAGTTCCATCCCCCTCCTCCTCTTCCACGGATTCTCAGTGCTCAGGGCTTTACAACCACCTGCCCCAGGCAGCAAGAAAGGCCAGGGGTGAAGTTTGCACTTTCTACATCAGGCTGGACCCGCTGCTAAGAACATACCAGTCTCTGGCGCTGGTGGGGAAGAAGTAGCCCTTGACCATGGCGAAGGTGGAGACGGCATAGCCAAGGATGTTGGCGCACCACAGCAGTGGGATCCAGTTGTCGAAGATGATGGTGGGCGAGAACCAGGACAGGAGATGAGCGTTTGCAAACCAGAGCAGGTGCGTGAGGAGCCAGGCTTGCAGGCCATTGATCTGATACTTGTTCACAACCCCTGCAGATGAAGGATTCAGAAATGAAGGCGCTTTCCCAACCCGCAGTGAGGAGCTTGGCTGGGCTGAAGCATGCCTGGCGGGGGCCCTGGTCACTTTCTGGGCCTCTGCTGCTGCGGACCCTCATCTGGGGCCCCAGGAACCATCTCTGAGGCCCCTATACCCTTGGCCAAGGAACTACCTGCTCCTAGGAAGAGGGAGGGGAGGCTGAGTCCATCCTTTGGTTCTGCATCTCGTTAACTGGCCATAGGCTGAGTGACAGGTGTGCAGTCTGATAGGGAGGTCAGGGCTGAGGGGCAGAAGCAAGTGAGGATGCCCCTGTGGTATGCCTGGCCCCCTCTGTAATTGTTGGGGAGCACCTCAGCCCATCCACCCCTCAAAACAGGGAGCTTCTGGGGGCAGAGTTGGGATGCGGTTCCAGTCTGCACCCACGTGAGAGGCACAAAGCCAGGCTCCTCGTGGGTTCTCAATGATGGCAAGGAATGAACAGACAAGGTCTCCCACGGACAGCCCCGAGGAATGGTGGTCTCTGCATGGTGGTCTCTGCAGGAAGCTTCATGGGCCGAGTGCATCCCCTGCTATGGGGCTGGGAAGGAGCTGGGCCATCCATTCCCTCCTTACCCAGGAAAGTGATTTCTAACCTGGGTGTGGGATGGCCCCAGCTGCCCTCAATGGTTTTGAGGCCTGGTGCTGTGAAAAATCCAAGCAAAATGGATTTCTATCCTGTGACAAGTCTTAGGGACAAAGCAGCGCTGGGGAGGACTGGCCCCTGAGAGAAAGGGATGAGAACGGGAGCCTGGGGAGGGTGGAAGGGAGGAGGCTACCTGCAGGAGTCACGGCCCCCTCCTGGATGCCTCCTACGTAGCCGGGTAGAAACTTATGCAGAAGTCAGGGAGAGACGTGTACAGAAGCACCTGAAACACACAAGCAGCCTGATCACCCCCCGCCTGGAGGGCACCTGCAAAGGGGGACGCATAGCAGGAACATGAGAATCACAATCATAGTCTTTTTCTTCCTGAAGCACTTATGGCTCCTGGAAGCTCAAACTGCTGGGCTGTGGGTTTTGAAGGGGGTTCTGAGACAATAAACTCATCAACCAGGGAAGGTGCCAAGGCGTTCTCCCCCAGGGCTCCATTCGCCCCTCAGGAGAGCGCACAGGTCCCTCCCAGTCACCTTTTTAAAATGGAGAATCCCATAAAATTCAACTTTTTATATATATATATAAATCTATCTTTGAGATGAGGTCTTGTTCTACCACCCAGGCTGGAGTGTAGTGGTGCAATCATAGCTCACCGCAGCGTTGTCCTCCTGAGCTCAAGTGATCCTTCCACCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGN | pathogenic | 180,437 |
Gene DHCR7 (7-dehydrocholesterol reductase) variant at chromosome position 71444848 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Smith-Lemli-Opitz_syndrome'] | GTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGGCCAGGGAAGCCACTCAACATGCCTGCTCTACTGTAGTTGATTAACTGGTGGCACTATCTGTGGCCCCCATGGAAGGCCCAGAGCTCAGAATATGAGCGGAGGTAGGTCTTTCACAACCACCAAGGCCAGTGGTTTCCCCAGTTCCAGGTCGGAGAGGATACTCACCCTGCACGAAGTCCCCATGGTTCTATGGCGAAATGGGAGCTGTGACAATAGGTCATACCCCCAGATGGTGGGAAGGCCCCAGCTGCCCTTTAAGCCTTTATCTTTTTTTCTAAGTTGTTGACTGACCATGATTTCTAGTTTCTTTTTATAATTCCTTACTTTATAAAGTGGAAAACTGTTTACCTTTCATTAGTCTTGACAAAAAAAAAAAAATCTTTTTTAAAAAGGTCCTTCATTCCTTTGGGTCCATACAATTCCAAAGGCTGGAAAGCTCTGAGACCACACTTTACTTTCTAGCTGGGAGAACAGGCAAGATCCTTACCAGGCACGGCCCCACTGCCCTTGAGATGCGGTTCTGTCATTGGTGACGCCATCTAGACTCTTGGCTTTGGGAATGTTGGGTTGCGATTTTGCAGCCATTGGGCCCTGCAAGAAAGAGAACCTTGCTTACATTATCCCTCAAATAACAGACACCACCTTTCCCTGTTGCATCCACCACTGCTCCTGGGCCTGGCAGGGCTGGCCTCCTGTGCACATCTTCCCGGTACCTTGTTCCTGACAGCAGATTCCAGGCAGGGAAGAGATCATCTTGTCTTAGACTCTCTTCCTTGGACCCTGCAATCACCTCCCACGTGACCTTGCTATGGCTGCTCTTGCTAGTCTCAGTTCATTCTCCAAACATGGCAGAATGCCCCCCCTCTTACAGCACAAGCTGGCTCCTGCCTCCCTCCTACACACCACTCTCCCCTATTCTCCTTTGGCTCCAGGAACACAGGGGTCTTCACTCATCCTTGAACACAGTTTAAATTGTCTGTGGCACTGACTTCCTCTGCTTAGAGCACGTTTGCAGGTGTCCTTGTTCAGGGCTCATGTAAAATGTCCCCTCCTGGGGAGATCTTCCCTCTCAGCCAATCTGAAGCAGCTGCTCCCCAGCTTCCCTGCCAAGGCCCTCCACTGGGTACTTTATTTTCTTAGTAACTCTCCCCATCGCCTAGAAGTATTCATTTGTGTGTGTGTATTGTCTGTCTCCCCTCACTAGAATGTAAGCTTCCCAAGGGCAGGAATTGTGTGTCCTCTTCATTGTTCTACTACCAGGGCCTAGAACAGTGGCCCATGTAGGACCATCAATAATCACCCTTCAAAAAAAAGGGGAAGAGAACACAGAATGTCTCTAGGTACCCACAGCTGCTCTACATGGTTATAATTTGGGGGAAGCAGTGACATCCCCACTTCCAGAACAAGTTCATAACTGTGAAGCTTTAAAATATCTGAGATTTTTTAAAAGATGCTCTTGAAAGCTTTTAGAGAAAAAACAGGAGTAAAAATCACAGTAGGCTTAGATTTCTCAACAGCAAGCTGGATTCTAGAAGACAATGATGAAAAACTTCAAAATTTTGAGGAAAACTTTTTGCAACCTAGAATTCTACTCCTATGTGAACTATTACTCAAGGACAACAACATAGGATCCAGGAAACTGGAGACCCAAGAGAGCTGCTGAAGCCATGTCCACAAAAGGGCAGGGGCAAGTCCCAAGAGGACAGCTATGCAGCAGGACTAACCAGAAACCAGTCCACATTGGTACAAGATGAATGGCTAGGAAAGAGAGGAAATGAAAATGATGAATTTTGTTGCATCTGAATGTGTAGGAAAATTATTGATATATGTGACAGCTCGGTTAGAGCATCCAGAAAAAAATGAATGAGAGATGCATAGAAACCTTACCAAATGAAAAAAAAAAAAAAAAAAAAAGGAAGGCAACTGTTAACTCCAGGAAAAATAAAAAGTCATATAAGGAAGGAAAAAAAGAAACCAAGCCATTATTATAGGACCTTACTTGGCTCAACAGTGAATAATGGTAATTTTGTCATAACAATGTATACTCTGACTATTTATTGACTATTGTATGCACAGAAGGGAATTTGCAAAGTTAGGGGTACTAAAAGGAAATTACTTAGAAACAAGTAGGTACAAACAACAACACAAAAGTAGCTGAAAGAATGAAAAGTGTTTGCTGCTGGCAAGCAAGACTGTCGGATGTGGGATGTGGTAGAGAGTATTTCTTCTGAAGCCTTTTAACACTGATTTTTAAAAAAATGTGTGCATGAATTACTTTAATAAAAATTCACACACATTTAAAAAATTTCAACGATGAAAGACATTTTCCTTATGCAGTGTGAGAACTTCAGTACCCGCACTTCATTCAATTTACACAAGTTAGTTTATGCAGTTCCTATGATGCACAAAACAAGACGAAGAGTTCTTGATAGGAAGAGACCGTGTCTCTCTCCGGCCCCAAATACTGAATACAGAGCCTGGCGAGTGCCAGTCACTCTCCTTATATCTGTAAAATCAAAGTGGATGAA | GTGTGCACCACCACACCCGGCTAAAATTCACCCTTTTAAAGTGCACAATTCAGCGGCATTTAGCGCATTTACATGGTTGGTTGTACACCTATCACTGCTAATTCCAGAACTTTTCATCACCACAGAAGAAAATGTTGTTCCAATCTCCGGTCACTCTGAATTCCCTGTCCCTGCCGCCCCTGGCTGCCACTGAGCTTTCTGCCTCTGTGGATTTGCCTGTACTGGGTATTGCATATAAAGGGAACCACACAGTATGCAGCCTCTGTGACTGGCTTCTCTCGCTCAGCAGTGTCTTCAAGGGTCATCCGCCTACTGGCATCAGAGCTTCATTCCCTTCCGCTGCCAAATAGTGTCCCACAGTGGGCACAGTGTTCTGTTCTGTGGGTCCATTCATCTACTGATGGACAGGTGGGGGTTCCTGCTTTGTGGCTATTTGTGATTCACACTGCCCCTGTCATTTTTCACTCAAAGGGACCAAGAGATCTGAACTGAGAAGTATTCTGGAGCCCAGAAGCTTGGACCCTGGGGAGAAACAGCTAATCATGATCTGAGCCTTCCTCCCGCCCAGGAAGGAAAACCCAGGCCTGTCTCTTTCTAGCACCGTTTCCCTGGAAACCTTTTCCTGGGTTCAGGCAATCAGCACCACCCATGTGTGCACCAGGTTTACAACAACCCCTTCCTGGAACTCCCTCTGGACTGGGAGGCCAGTGGGGACACCATGGAGCTGAGGACGTCCTGGACCTGCCTCGACTGCCTGTGGGGAAACATGGCCCTCGCTTCTCTGAGTGGCATCTCATGACTGAGAGAGTCCCTTTGGGGACTGAGATGCTCCTTTCCAGACCTGGTGCAAGGCGTGACTCCTGCTGACAATGGGGCTTCCTCAGGACAGCACTGCCCTCCCACGGGGTTTTGCTCCTATCCTCAGCTTGTCCCTGCAGAGCTGGGCGTGCCCAGCAACTGCATGCAGGCATGCCGTGAAGGTGTATCAAACGCTGATGTGACAGGTGCCTCCTGCCTTACAGCTGAGGATGAATCTGAACATGTCAGAGTCCAGGGAATGCCCTGCTGGGTCCCGGGAACCCAGATGTCAACCTGAGCCAGGATCCATGTCCCAGACAAATGGAAGGACTACCCCAGCAGGAGGGCACGCTCCCCACCTGCTGTGTCCCAACCCCAGGGCAGGGGCTGCTGACCTGGAAGGTGACCCACAAGGTATAGAGCTGGGCGGCTTTCCTCGTTATAGGTGGAGTCTTGGCCCAGATGTCCGAGAGCCGAGCATGTCCGGTGACGATGTCCACCACAGGGCCAGTCAGGGCGCAGCTGTACTGGTCACAAGCCATGATGAAGTAGTAGACGATGAAGGGGGCGAACAGCAGTAGGAAGATGACGCTCGCCAGTGAAAACCAGTCCACCTCCCTGCGAGGACGGATGCAGGCAGTCACACTGGGGCCCATCTGCCCTGGGCCCCACCAGGACCCTAAGAGGCTCTGTGTGGGAGAACTGTTGCTCAAACCCACCAGTACCCCATGACAGAAGGCATTAGCTCCTAGCACGGGCCCTCCTTGCGGCCAGGGAAGCCACTCAACATGCCTGCTCTACTGTAGTTGATTAACTGGTGGCACTATCTGTGGCCCCCATGGAAGGCCCAGAGCTCAGAATATGAGCGGAGGTAGGTCTTTCACAACCACCAAGGCCAGTGGTTTCCCCAGTTCCAGGTCGGAGAGGATACTCACCCTGCACGAAGTCCCCATGGTTCTATGGCGAAATGGGAGCTGTGACAATAGGTCATACCCCCAGATGGTGGGAAGGCCCCAGCTGCCCTTTAAGCCTTTATCTTTTTTTCTAAGTTGTTGACTGACCATGATTTCTAGTTTCTTTTTATAATTCCTTACTTTATAAAGTGGAAAACTGTTTACCTTTCATTAGTCTTGACAAAAAAAAAAAAATCTTTTTTAAAAAGGTCCTTCATTCCTTTGGGTCCATACAATTCCAAAGGCTGGAAAGCTCTGAGACCACACTTTACTTTCTAGCTGGGAGAACAGGCAAGATCCAGGCACGGCCCCACTGCCCTTGAGATGCGGTTCTGTCATTGGTGACGCCATCTAGACTCTTGGCTTTGGGAATGTTGGGTTGCGATTTTGCAGCCATTGGGCCCTGCAAGAAAGAGAACCTTGCTTACATTATCCCTCAAATAACAGACACCACCTTTCCCTGTTGCATCCACCACTGCTCCTGGGCCTGGCAGGGCTGGCCTCCTGTGCACATCTTCCCGGTACCTTGTTCCTGACAGCAGATTCCAGGCAGGGAAGAGATCATCTTGTCTTAGACTCTCTTCCTTGGACCCTGCAATCACCTCCCACGTGACCTTGCTATGGCTGCTCTTGCTAGTCTCAGTTCATTCTCCAAACATGGCAGAATGCCCCCCCTCTTACAGCACAAGCTGGCTCCTGCCTCCCTCCTACACACCACTCTCCCCTATTCTCCTTTGGCTCCAGGAACACAGGGGTCTTCACTCATCCTTGAACACAGTTTAAATTGTCTGTGGCACTGACTTCCTCTGCTTAGAGCACGTTTGCAGGTGTCCTTGTTCAGGGCTCATGTAAAATGTCCCCTCCTGGGGAGATCTTCCCTCTCAGCCAATCTGAAGCAGCTGCTCCCCAGCTTCCCTGCCAAGGCCCTCCACTGGGTACTTTATTTTCTTAGTAACTCTCCCCATCGCCTAGAAGTATTCATTTGTGTGTGTGTATTGTCTGTCTCCCCTCACTAGAATGTAAGCTTCCCAAGGGCAGGAATTGTGTGTCCTCTTCATTGTTCTACTACCAGGGCCTAGAACAGTGGCCCATGTAGGACCATCAATAATCACCCTTCAAAAAAAAGGGGAAGAGAACACAGAATGTCTCTAGGTACCCACAGCTGCTCTACATGGTTATAATTTGGGGGAAGCAGTGACATCCCCACTTCCAGAACAAGTTCATAACTGTGAAGCTTTAAAATATCTGAGATTTTTTAAAAGATGCTCTTGAAAGCTTTTAGAGAAAAAACAGGAGTAAAAATCACAGTAGGCTTAGATTTCTCAACAGCAAGCTGGATTCTAGAAGACAATGATGAAAAACTTCAAAATTTTGAGGAAAACTTTTTGCAACCTAGAATTCTACTCCTATGTGAACTATTACTCAAGGACAACAACATAGGATCCAGGAAACTGGAGACCCAAGAGAGCTGCTGAAGCCATGTCCACAAAAGGGCAGGGGCAAGTCCCAAGAGGACAGCTATGCAGCAGGACTAACCAGAAACCAGTCCACATTGGTACAAGATGAATGGCTAGGAAAGAGAGGAAATGAAAATGATGAATTTTGTTGCATCTGAATGTGTAGGAAAATTATTGATATATGTGACAGCTCGGTTAGAGCATCCAGAAAAAAATGAATGAGAGATGCATAGAAACCTTACCAAATGAAAAAAAAAAAAAAAAAAAAAGGAAGGCAACTGTTAACTCCAGGAAAAATAAAAAGTCATATAAGGAAGGAAAAAAAGAAACCAAGCCATTATTATAGGACCTTACTTGGCTCAACAGTGAATAATGGTAATTTTGTCATAACAATGTATACTCTGACTATTTATTGACTATTGTATGCACAGAAGGGAATTTGCAAAGTTAGGGGTACTAAAAGGAAATTACTTAGAAACAAGTAGGTACAAACAACAACACAAAAGTAGCTGAAAGAATGAAAAGTGTTTGCTGCTGGCAAGCAAGACTGTCGGATGTGGGATGTGGTAGAGAGTATTTCTTCTGAAGCCTTTTAACACTGATTTTTAAAAAAATGTGTGCATGAATTACTTTAATAAAAATTCACACACATTTAAAAAATTTCAACGATGAAAGACATTTTCCTTATGCAGTGTGAGAACTTCAGTACCCGCACTTCATTCAATTTACACAAGTTAGTTTATGCAGTTCCTATGATGCACAAAACAAGACGAAGAGTTCTTGATAGGAAGAGACCGTGTCTCTCTCCGGCCCCAAATACTGAATACAGAGCCTGGCGAGTGCCAGTCACTCTCCTTATATCTGTAAAATCAAAGTGGATGAANNNNN | pathogenic | 180,466 |
Variant chromosome 11, position 72108662, gene ANAPC15: benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_63', 'Inborn_genetic_diseases'] | ATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAACCCAGATTTTTGTCACCCCAGGCCTTGCCCCCAGACATCCCTTGTGAAGGACTCCCATCTAAGGAGAAGGAAGCACCTCCACTCTGGGGACTGTGATGCTGGATGGTGTGTGAGCTCCTGCCCTCCTGTCCCAAGTCATCTGCACATTATTTTCTGCCGGATGACGAAAGAAACAGCTAAGAGGAAGGTCTCTGGAACCCAGCAAATTTGGGTCCAGCTCTTACTCTGCCTCTTGTTAGCTACGTGACCTTGAGCAAAGCATGCATCCTCTGAACCTTAGCTTCTTCAGAATGGAAATCACAATACTGATCCTGACTTCTTAGGTTCTGAGGTCAGAGGAAATGTGAGAACACTCATGGGAAGCTAAGCCAGGACCTGGCATGAAGTAAGCCAGATCCTGGTGGGGTCTTGACTGGGAGAACAATTCCCCCCACCCTCACCTCCAGCTCCCCCTATCCCCACAGGTGGAGCTCATCGTGGGCAGCTCAGAGGACGTGATCCCGTGCCTACGCACCCAGTATCAGCTGAGTCGGGCAGACCTGGTGCTCCTGGCACACCGGCCACGATGTTACCTGAGGGACCTGCAGCTGCTGGAGGCCCATGCCCTACTGCCAGCAGGTGCCACCGTGCTGGCTGACCATGTGCTCTTCCCTGGTGCACCCCGCTTCTTGCAGTATGCTAAGAGCTGTGGCCGCTACCGCTGCCGCCTCCACCACACTGGCCTTCCAGACTTCCCTGCCATCAAGGATGGAATAGCTCAGCTCACCTATGCTGGACCAGGCTGAGGTCCAGGCCCAGGGGTACTTACTGATGCCCACCCCCACCCCCACCCAAGCAGGGACCTCAAAATCCCCTCCCTTTCCTGTTTGGGGCCTTGACACACGCTGGGCTCAGGGCTAGGGAGTCTCTCTTCCCACCTCTGACCTCTTTCAGCCTCTACACTGACCTCAAGTGTCAAGTTCTATCAGGCTGCTTGGTCTCACTAGGCCCCCTCTTTCCAGAGAGAACCATGGACTGACAGCAAGAAGCCTGAGCTCCCGACCCAGCTCTGTCACTGATTTGCTGAGTGACTCCAAGGGAATCCCCACCTTGCTCTGAGATTTAATCTTCTCTCTTAACACGAAGGAAGCTGGATGGGAGAGCTCCAGGGGCCTCCCAGTTCTCGGCCTCAGAAAGCCTCCCATCCTCAGCCCATGCCATTCTGGGTGGGATCAGAGGAAGTGGCAATGAGTTAGACGCCCTGCAGGAATAGCTGGATGCAAGCTGGGCCAGAGAAAATGGCACAGAACCCTGGACCCAGGGCCAGGGATGCCCTGGCCTTCCCTAACTCTGGCCCACCTAGCCAATTAGGTGTGGCTGATGTCCCTTGAGTGCCCTCTTCCTAAAGCCCAAAAGAAGATGCTGGACTCCTCTGGGCCCCACCAACAAATAGGGAATAGACATGGGTGGAAAATCACTCCTTTGTCTTTATTAAAGAAACTTAGACCAGACCTGGCAATCAAGGGGTGAGGTACTGGCCAGGAAGGTGGAGTAGGTTTCAGGCCCTGGGGATTTCAAGTGCAGACTGATGGCCTGGGAGGGGCCAAAGAGACCAGATCCTGGCAGCAGCTGAGGAGGTGCCCAAGGGCACTTTCAGGCACTGGGGCCATCAGCTGGTTCTGTGGGCAGGGGTTGGGGGTTGGGATGCAGGGTAGTTTGGGCTGGCCTGGAATCTCCCTGAGGCCACCCTGCCTTGTCTACCTAGATCATCCACTGGTCCTGATCCTGTTCGTTGCCTTCCATGTCCACCTGGAGAGGAGGCTGGGTGTGGGTGGGGAGGGGCCTCAGCCAGCCTCAGCCCCAGATCCTGCCCCTGGCTGGATCCAGGGTTTCTGTACCCCTTGGCCATCAACTGGGTCAGGAGCAAGGGTCCAGGAACAGAGGCCCTCCCCCATACCCCTTGCCTACCTCATTGACCTCTCCATCATCCGGTGACTCATTGTAGTCATTCATCTCGTCCATGTCCTGCATATCCTCATCATCCTCTGAGTCCTCTTCACTATCCTCATCATCTTCATCATCCTCTTCTTCCTCGTCATCATAGTGCTGGTGGGCAGGACAGAGCCTGTAAGCCCTACAGGCCTGCATGGACCAGTTCAAGAACTGACCCACTTGAGCCTCTCTCTAGGGCCAATGAATGACCCCCTACCCCGACACTCCCTCCTTGAGTCTAGCAGGCTGGTGCATGTTCTGCAGGACCTTAATGCTAGGCCCAATGCCCACCCCTTCTATCTCCCCTTTTAGGCTTTTACCCAGATCTGAGAACCACAACTGCTCTGGGTCAGAGACAGGACATTCAGAATTAGAGCAGAGCCTCGGTCCACTGCGGCCCCCACACAGGCCCCACCTGCTAGAGCCACTCACCTCTGAGGCTGGCTTGCCAATAGGAACCAGGTTGTTGTCTTTCTCCGCGATGCTTTGGAGCTGTGGGCAAAGGCACAGAGGAACAAGGCCAGAGCCCAAGTAGGGCAGGTCAGGGGCATGGGACTGGCCCATTCTGCCCAGAAGACAACCCACACGTGTTGGGGAG | ATCTCAATCCCAGCATAAGTGCTTTTAGGGTCTTATTTAAGAAATTCGGCTGTGTGGTGGCTGGTGCCTGTAATCCCAGCACTTTGAGAGGCCGAGGTGGGCAGATTGCTTGAGCTCAGGAGTTTGAGACCGGCTTGGGCAACATGGCAAAAACCCATCTCTACAAAAAATACAAAAATTACCCAGGCATGGTGGCACATGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCTGAGGCTGCAGTGAGCTGTGATTGTGCCACTGCACTCCAGCATGGGTGACAGAGCAAGAACCTGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAAGAAAAGAAATTCACTGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGACTAGCCTGGGTAACAAAGCAAGACCCCCGTTTCTACAAAAAATTTAAAAATTAGCCGGGTGTGGTGGTGAGTAACTGTGGTTCCAGCTACTGGAAATGCTGAGGTGGGAGGATTGCCTGAGCCTGGGTGGTCAAGGCTGCAGTGAGCCGTGATCATGCTACTGCACTCCAGCCTGGGCAACACAGCAAGACTTGGTCTCAAAAATAAATAAATAAAAGTTCATCCAATTCCAAGATCAGAAATACATTTGATGAGCAATAAAAGGGGAATGAAACTACAAATTCTAACAGAGACCTTTCATAAATCTGAAAGATAGGGTGGTTGTTTCTGCCTGGGACTTCATGGAGAAAGAGCAACATTTGAACTGAATCTGGAAGTTCTGAGTTGGCCAGGCAGATGGCGATGGGGGTGGGAAGGGCAAAGCCAGCCACATATACACATGTGGCATGAAGGAATGAGACAGCTTGATGGATTCTGGGCACAGTTGTTTGGGATGGCTGTGATACAGGCCACAGGTGGGAAGTACTGAGAGATGAACCTGGAAAGGTAGGATAGGATCAGGTCCAAGGTCCTGAATGCCAGGCTGAGAATCCCAAGTTCAATCCCAAAGGCCTTCAGCTCACAGGAGCCAAGGAGTAATAAGGTCAGATTTGTTGGAAAGATTCCAGGGCTGGTGTGAAGACTACACTGTAGGAGACGGGGACCAGGAGGGCAGCTGGGGCTATGGTACAAGAGACAGATGAGACCCCGGCTGGTTGGGAGCTGCAGTGAGGCAGGTAGGCATTTGAGATATCTTTTATCAGGGGCCCTGCATCCATCTCCCATGTCTTCTGCAACAGCCATCTCCCCTCATAGGTCAGATCCTGATGCGGCTGGTGGAGGAGAAGGCCCCTGCTTGTGTGCTGGAATTGGGAACCTACTGTGGATACTCTACCCTGCTTATTGCCCGAGCCCTGCCCCCTGGGGGTCGCCTTCTTACTGTGGAGCGGGACCCACGCACGGCAGCAGTGGCTGAAAAACTCATCCGCCTGGCCGGCTTTGATGAGCACATGGTCAGCCTCCCATCTCCCCAACCCAGATTTTTGTCACCCCAGGCCTTGCCCCCAGACATCCCTTGTGAAGGACTCCCATCTAAGGAGAAGGAAGCACCTCCACTCTGGGGACTGTGATGCTGGATGGTGTGTGAGCTCCTGCCCTCCTGTCCCAAGTCATCTGCACATTATTTTCTGCCGGATGACGAAAGAAACAGCTAAGAGGAAGGTCTCTGGAACCCAGCAAATTTGGGTCCAGCTCTTACTCTGCCTCTTGTTAGCTACGTGACCTTGAGCAAAGCATGCATCCTCTGAACCTTAGCTTCTTCAGAATGGAAATCACAATACTGATCCTGACTTCTTAGGTTCTGAGGTCAGAGGAAATGTGAGAACACTCATGGGAAGCTAAGCCAGGACCTGGCATGAAGTAAGCCAGATCCTGGTGGGGTCTTGACTGGGAGAACAATTCCCCCCACCCTCACCTCCAGCTCCCCCTATCCCCACAGGTGGAGCTCATCGTGGGCAGCTCAGAGGACGTGATCCCGTGCCTACGCACCCAGTATCAGCTAGCTGAGTCGGGCAGACCTGGTGCTCCTGGCACACCGGCCACGATGTTACCTGAGGGACCTGCAGCTGCTGGAGGCCCATGCCCTACTGCCAGCAGGTGCCACCGTGCTGGCTGACCATGTGCTCTTCCCTGGTGCACCCCGCTTCTTGCAGTATGCTAAGAGCTGTGGCCGCTACCGCTGCCGCCTCCACCACACTGGCCTTCCAGACTTCCCTGCCATCAAGGATGGAATAGCTCAGCTCACCTATGCTGGACCAGGCTGAGGTCCAGGCCCAGGGGTACTTACTGATGCCCACCCCCACCCCCACCCAAGCAGGGACCTCAAAATCCCCTCCCTTTCCTGTTTGGGGCCTTGACACACGCTGGGCTCAGGGCTAGGGAGTCTCTCTTCCCACCTCTGACCTCTTTCAGCCTCTACACTGACCTCAAGTGTCAAGTTCTATCAGGCTGCTTGGTCTCACTAGGCCCCCTCTTTCCAGAGAGAACCATGGACTGACAGCAAGAAGCCTGAGCTCCCGACCCAGCTCTGTCACTGATTTGCTGAGTGACTCCAAGGGAATCCCCACCTTGCTCTGAGATTTAATCTTCTCTCTTAACACGAAGGAAGCTGGATGGGAGAGCTCCAGGGGCCTCCCAGTTCTCGGCCTCAGAAAGCCTCCCATCCTCAGCCCATGCCATTCTGGGTGGGATCAGAGGAAGTGGCAATGAGTTAGACGCCCTGCAGGAATAGCTGGATGCAAGCTGGGCCAGAGAAAATGGCACAGAACCCTGGACCCAGGGCCAGGGATGCCCTGGCCTTCCCTAACTCTGGCCCACCTAGCCAATTAGGTGTGGCTGATGTCCCTTGAGTGCCCTCTTCCTAAAGCCCAAAAGAAGATGCTGGACTCCTCTGGGCCCCACCAACAAATAGGGAATAGACATGGGTGGAAAATCACTCCTTTGTCTTTATTAAAGAAACTTAGACCAGACCTGGCAATCAAGGGGTGAGGTACTGGCCAGGAAGGTGGAGTAGGTTTCAGGCCCTGGGGATTTCAAGTGCAGACTGATGGCCTGGGAGGGGCCAAAGAGACCAGATCCTGGCAGCAGCTGAGGAGGTGCCCAAGGGCACTTTCAGGCACTGGGGCCATCAGCTGGTTCTGTGGGCAGGGGTTGGGGGTTGGGATGCAGGGTAGTTTGGGCTGGCCTGGAATCTCCCTGAGGCCACCCTGCCTTGTCTACCTAGATCATCCACTGGTCCTGATCCTGTTCGTTGCCTTCCATGTCCACCTGGAGAGGAGGCTGGGTGTGGGTGGGGAGGGGCCTCAGCCAGCCTCAGCCCCAGATCCTGCCCCTGGCTGGATCCAGGGTTTCTGTACCCCTTGGCCATCAACTGGGTCAGGAGCAAGGGTCCAGGAACAGAGGCCCTCCCCCATACCCCTTGCCTACCTCATTGACCTCTCCATCATCCGGTGACTCATTGTAGTCATTCATCTCGTCCATGTCCTGCATATCCTCATCATCCTCTGAGTCCTCTTCACTATCCTCATCATCTTCATCATCCTCTTCTTCCTCGTCATCATAGTGCTGGTGGGCAGGACAGAGCCTGTAAGCCCTACAGGCCTGCATGGACCAGTTCAAGAACTGACCCACTTGAGCCTCTCTCTAGGGCCAATGAATGACCCCCTACCCCGACACTCCCTCCTTGAGTCTAGCAGGCTGGTGCATGTTCTGCAGGACCTTAATGCTAGGCCCAATGCCCACCCCTTCTATCTCCCCTTTTAGGCTTTTACCCAGATCTGAGAACCACAACTGCTCTGGGTCAGAGACAGGACATTCAGAATTAGAGCAGAGCCTCGGTCCACTGCGGCCCCCACACAGGCCCCACCTGCTAGAGCCACTCACCTCTGAGGCTGGCTTGCCAATAGGAACCAGGTTGTTGTCTTTCTCCGCGATGCTTTGGAGCTGTGGGCAAAGGCACAGAGGAACAAGGCCAGAGCCCAAGTAGGGCAGGTCAGGGGCATGGGACTGGCCCATTCTGCCCAGAAGACAACCCACACGTGTTGG | pathogenic | 180,527 |
For chromosome 11, position 72225181, gene INPPL1: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | GACCCGGGCTCCGTCAACAGGTTCAACGTAGCAAAGTGAAAGTTCTCTCCCAGGTTAAAGGGATTCTCCCACGGCGGCCCAGGAGATGGTGGCGGCGGGCGCCCGGCTGGAGGCCTGCGCCTTTAAGGAGCCAGGGGGCGGAGGGGCGGGGCAGGAAGACGACTCCCCGGAGACGCCGCCACCGGCTAGGTCTTTTTTTGGGAGGGGGCGGGCCAGACCCTTTTATGGGCTCCGCCCCCTTTGCGGCTGCCGCGTCCCCCTTCCGCCCTCGGCTGGAGGGGAGGAAGCTAGGGGGGCGTTGCAGCGGACCCCGTCTGGGAGCTCCCCGCTGGGCGTCCGGCCCGCGGAGGCGCGAGTTTGCTGACTCGGAGGGAGCCGCTGGGGCGGGGGCGAGTGCTAATAATACCCGTTCGTTCCGCAGCCGCGCTTTACAGTTTACACAGCTGTCACCTTCGTTTCTCCTTAATTAATAATAAAAATAGCCGCCGTTCGGGAGCGCGGGCTGGGCGCCAGGCCCGGTGCCGAGCGCGGTACGAGCTCGGCCCCCAGAGCCGGCCCTCGCCACAGGATCCCCATTTTCCAGAGCGGGAAGCCGACGCTCAACCCCGCGCCGCGACTTGCCCGAGGTCACCCAGTGGGCCAGCGGCTCCGGGACCGAGGCGCGGGGCGGGGTGAGGCGAGGCGCGGTGCTGCCCCCGGCTCCCCGGGGCGGCGCGGGGCGGGGCGGGCGGCGCGGAGGGCGGGGGCGCGCGCGGATGGCCATCTTAAGTGGCCGCCTGGAGCCCAGGGCCGCTGTCCGGGGAAGGGGGCGCCGGAGCAGCCCGGGAGGTGGGGGTCTGCGTGCGGCGGCCGGGATCCCGGGAGGGAACTTTCTACTAGACGGGCCAGGGATCCTCCTGGCTTCGGACTGCTGAACCCCCTCAAGGCCCGGCCTGCGGGTGTGGGGGGTGGTGCTGGGGAACTTGGCCGAGAGGGGGAAGGGCTCTGCGGGGCTGGGAGGGGCTGCGTGAGAGGCTCGAGAACGTCGCACCTCGTCTGGGCCCCCCGCCAGAGTAAGAATCTTCAGAAGCCTGGTTAGCCAGGGAATCTCCCCGCAGGCTTTGCCGGGGGACGGTTCCCGTGGAGTTGGGGGTTCAGATCTAAGAGGGGGCTGCATTTCGCAGGAGTTGGGGGCCCCGCCCGCTTGGGTGGAGGGAAGAGGATGGGTAGGGGGTGGTCCTGGATCCTTCGCAGGTTTGGGGAACTCGATGCAGCCAAGCTGTAAGGGGGACGAGAGGAAGAGCCATGGAGTGGAATCAGACCTTTATGGGGCTTAGGGGTCATATCATTGGGAGAACTGAGAAGCGCTGAATTCTCCAGGGGGTGCCTGGATCCCGAAGTGTCGGGGCCAGGATGGGGGGACTCGGATTTCGATGGGGATTTGGGGACTGGATCTCCTCGGGTGAATGATGGGGGCAGGATCATTGTGGGGTCTGGGAGGTCCCGGGCCCTTCGGGAAGGTGGGGGCACCGTCCCCGCAGGAGGAGCTGGGGGCAGGGGCGGCCCGGGCTGCGGGCCGAGCGGAGGGGGAGGGGGCGGCAGCCGGCCCTGCGCTCCGCTCCTGCCCCTCCCCCGCCGCCTCTGAACAAACTTTTCTTTCTCTTCAAGTTGAGGCCGGCGCTGCAGGCAGCGGCGGCTGCGCGGTGAACGAGGCGGCCTGCGCGGCGGAGTGCTGAGTCCCGATCCCCGGCTCTGTCCGGCCCACGGATCCTCAAGCCCGGGCCCCGGGCCCGGCCCCAGCCTCAGCCCTGAGCGTCTCGGGGCGGATGGCGCGGGGCGGCGGGGGCGGGCGGTGCTGAGCCCTGCGCGGGCCATGGCCTCGGCCTGCGGGGCGCCGGGCCCGGGGGGCGCCCTGGGCAGCCAGGCCCCCTCCTGGTACCACCGCGACCTGAGCCGGGCGGCCGCGGAGGAGCTGCTGGCCCGGGCGGGCCGCGATGGCAGCTTCCTGGTCCGAGACAGCGAGAGCGTGGCGGGGGCCTTCGCGCTCTGCGTCCTGTGAGTGGGGCGGGGGCTCCTTGCGGGCTGGCGTGGACCGGGAGCGCGGGCACGGCCGGGTGTGGAAAGGGCCCGGGTGAGGGTTTCTGGGGCGGTGGGACGCCAGACCCGCCTCCACCCCCCAGAGTGGGAGCCTTGGCTTTCTCCTGGGTCTGAGGAGGGACGCAGGGGCACTTCCTGCTGTGTGTCTGGGGGCACTTTCAGGAGCCTTGAGGGTAGAGAATATGGGGTTCTGTGGCCCAGTGTGACTGTGATGACGAAAAATTCGGGCATTCCCCGGCAGACCCCTTCAGGCATCCTCCAGGTAGAAGGGAGCAGGGGAGAGGATGTGCATTCCACGTTGTGTGCAGTCCCGTTTGGATAGGGACTGAGTGGTGAGCAGGAGAGGGAGTCGGGGCAGAGGGACTGACGGGGTGTGTGGGGATGCCTGGCAGCTTCCTTAGGGCCCCTTTCGGTGCTTTGGGGTTCTGCCTGGCCGTGTATGGGTGGTGGGGGCGGTGATGGGTGGTGTAGAGAGGAAGGCTTGGGGAAGCAGAGGCTGAGGCTGTATGGGACCTTGCCATTATTTCTGAACCAATGAGTGAGTGTTTGAGCCCTGGCTCTGGGCTTGAGCCCTGGTTACCTGGCTGCCCTAGCCCTGAGCTATGAGTGCTGAGTGAGAGCAGAGCCAGACTTGGTGCTTCTCTGAGTGGGCCAGGTCCTGTGGCTGTGCCTTTCAGCCCAGTGTGGTTGGTAGTGGTGCTGGGGTGAGTTAGCACTCTTGGTTTTGCAGCCTTCTAGCGGCTTTGTACCTCCTGCCCTGCAGTCTGACATTGAGTTGGCTTCTGTGGGCCCAGTGAGTGGGAATCTGTGGGGGCTGCTTTATTTAGATCAGTTATTTAGATCTTTATTTAGATCTTTCTTAGCTCTGTGAACCCCCTCCCAAACTCCTGTCCCACTGTACCTTCCTTACCCCTTTGTTCTCCTGACATCTTTGGTCGGGGCGCACATTAGCCTAGACCAGGGGAGACCTTTTTTTTTTTTTTTTTTTTTGAGAAAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTTCTGCCTCTGCCTCGCCAGTAGCTGGGATTACAGGCGCTCGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCCCGGCCTCTCAAAGTGCTAGGATTACAGGTGGAGCCACCTCGCCCAGCTGGGGAGACATTTTTAATTGTCACAACTGGGATGGTGCTATTGACATCTAGTGGGTAGAAGCCGGGGATACTGCTAAACATTCTACAGTGCACAAGAGAGTCCCCCACAACAAAGAACTGTGCAATCCAAAATGTCAGTGGTATGGAGGTTGAAAAACTCTAGCCTAGGCAATTGACCCAACAAGGAAGGGGCCCTATAAGTCTTAGCTTAGGCCTCAAGTCTGAGGCCCAGTAGGGGGAGACTAAGGAGGGACAGACTAGGCAGATGAATATCCCCAAGTCCTGCTTCCCAGCCCCCTCTGAGGCATACCCCCTAATTAGGCTGGGGAGGGAGGCAGGTGCTGGGTCAGCTGTTGAGTGGGAGGGGGACAGCTGGGGCCTGTGTCTGGGTGAGGAACATTATTGTCCCAGGAGGGGGAGAATCCTGGCCTCATTGCCAAGGGAGGCTGTGAATGGGGTGAGGGGTCTGTCTGTGAGTGGGGGCTTCAGGTTTGCCAGCTGACTCTGGCTCTTCCCCGCATCTCAAGAGCCTGGGGGTAAGGATCAGACGTGGGCGATCAGACGTGGGCAATATCTTAGATTTGCCAAATACACACATACTTGCTTACCTGTATACATTCCGGGTGTTCATGGATAACATGCAAGACACGCCCCTGCCCCAGCAGGCACAGGCAATCTGACCAGCAAGCTAGGATACTGGCCCTGGCTTCTGCCATGGTTTAAAATCCCAACTCCACCTTTTACTTACTC | GACCCGGGCTCCGTCAACAGGTTCAACGTAGCAAAGTGAAAGTTCTCTCCCAGGTTAAAGGGATTCTCCCACGGCGGCCCAGGAGATGGTGGCGGCGGGCGCCCGGCTGGAGGCCTGCGCCTTTAAGGAGCCAGGGGGCGGAGGGGCGGGGCAGGAAGACGACTCCCCGGAGACGCCGCCACCGGCTAGGTCTTTTTTTGGGAGGGGGCGGGCCAGACCCTTTTATGGGCTCCGCCCCCTTTGCGGCTGCCGCGTCCCCCTTCCGCCCTCGGCTGGAGGGGAGGAAGCTAGGGGGGCGTTGCAGCGGACCCCGTCTGGGAGCTCCCCGCTGGGCGTCCGGCCCGCGGAGGCGCGAGTTTGCTGACTCGGAGGGAGCCGCTGGGGCGGGGGCGAGTGCTAATAATACCCGTTCGTTCCGCAGCCGCGCTTTACAGTTTACACAGCTGTCACCTTCGTTTCTCCTTAATTAATAATAAAAATAGCCGCCGTTCGGGAGCGCGGGCTGGGCGCCAGGCCCGGTGCCGAGCGCGGTACGAGCTCGGCCCCCAGAGCCGGCCCTCGCCACAGGATCCCCATTTTCCAGAGCGGGAAGCCGACGCTCAACCCCGCGCCGCGACTTGCCCGAGGTCACCCAGTGGGCCAGCGGCTCCGGGACCGAGGCGCGGGGCGGGGTGAGGCGAGGCGCGGTGCTGCCCCCGGCTCCCCGGGGCGGCGCGGGGCGGGGCGGGCGGCGCGGAGGGCGGGGGCGCGCGCGGATGGCCATCTTAAGTGGCCGCCTGGAGCCCAGGGCCGCTGTCCGGGGAAGGGGGCGCCGGAGCAGCCCGGGAGGTGGGGGTCTGCGTGCGGCGGCCGGGATCCCGGGAGGGAACTTTCTACTAGACGGGCCAGGGATCCTCCTGGCTTCGGACTGCTGAACCCCCTCAAGGCCCGGCCTGCGGGTGTGGGGGGTGGTGCTGGGGAACTTGGCCGAGAGGGGGAAGGGCTCTGCGGGGCTGGGAGGGGCTGCGTGAGAGGCTCGAGAACGTCGCACCTCGTCTGGGCCCCCCGCCAGAGTAAGAATCTTCAGAAGCCTGGTTAGCCAGGGAATCTCCCCGCAGGCTTTGCCGGGGGACGGTTCCCGTGGAGTTGGGGGTTCAGATCTAAGAGGGGGCTGCATTTCGCAGGAGTTGGGGGCCCCGCCCGCTTGGGTGGAGGGAAGAGGATGGGTAGGGGGTGGTCCTGGATCCTTCGCAGGTTTGGGGAACTCGATGCAGCCAAGCTGTAAGGGGGACGAGAGGAAGAGCCATGGAGTGGAATCAGACCTTTATGGGGCTTAGGGGTCATATCATTGGGAGAACTGAGAAGCGCTGAATTCTCCAGGGGGTGCCTGGATCCCGAAGTGTCGGGGCCAGGATGGGGGGACTCGGATTTCGATGGGGATTTGGGGACTGGATCTCCTCGGGTGAATGATGGGGGCAGGATCATTGTGGGGTCTGGGAGGTCCCGGGCCCTTCGGGAAGGTGGGGGCACCGTCCCCGCAGGAGGAGCTGGGGGCAGGGGCGGCCCGGGCTGCGGGCCGAGCGGAGGGGGAGGGGGCGGCAGCCGGCCCTGCGCTCCGCTCCTGCCCCTCCCCCGCCGCCTCTGAACAAACTTTTCTTTCTCTTCAAGTTGAGGCCGGCGCTGCAGGCAGCGGCGGCTGCGCGGTGAACGAGGCGGCCTGCGCGGCGGAGTGCTGAGTCCCGATCCCCGGCTCTGTCCGGCCCACGGATCCTCAAGCCCGGGCCCCGGGCCCGGCCCCAGCCTCAGCCCTGAGCGTCTCGGGGCGGATGGCGCGGGGCGGCGGGGGCGGGCGGTGCTGAGCCCTGCGCGGGCCATGGCCTCGGCCTGCGGGGCGCCGGGCCCGGGGGGCGCCCTGGGCAGCCAGGCCCCCTCCTGGTACCACCGCGACCTGAGCCGGGCGGCCGCGGAGGAGCTGCTGGCCCGGGCGGGCCGCGATGGCAGCTTCCTGGTCCGAGACAGCGAGAGCGTGGCGGGGGCCTTCGCGCTCTGCGTCCTGTGAGTGGGGCGGGGGCGCGGGCACGGCCGGGTGTGGAAAGGGCCCGGGTGAGGGTTTCTGGGGCGGTGGGACGCCAGACCCGCCTCCACCCCCCAGAGTGGGAGCCTTGGCTTTCTCCTGGGTCTGAGGAGGGACGCAGGGGCACTTCCTGCTGTGTGTCTGGGGGCACTTTCAGGAGCCTTGAGGGTAGAGAATATGGGGTTCTGTGGCCCAGTGTGACTGTGATGACGAAAAATTCGGGCATTCCCCGGCAGACCCCTTCAGGCATCCTCCAGGTAGAAGGGAGCAGGGGAGAGGATGTGCATTCCACGTTGTGTGCAGTCCCGTTTGGATAGGGACTGAGTGGTGAGCAGGAGAGGGAGTCGGGGCAGAGGGACTGACGGGGTGTGTGGGGATGCCTGGCAGCTTCCTTAGGGCCCCTTTCGGTGCTTTGGGGTTCTGCCTGGCCGTGTATGGGTGGTGGGGGCGGTGATGGGTGGTGTAGAGAGGAAGGCTTGGGGAAGCAGAGGCTGAGGCTGTATGGGACCTTGCCATTATTTCTGAACCAATGAGTGAGTGTTTGAGCCCTGGCTCTGGGCTTGAGCCCTGGTTACCTGGCTGCCCTAGCCCTGAGCTATGAGTGCTGAGTGAGAGCAGAGCCAGACTTGGTGCTTCTCTGAGTGGGCCAGGTCCTGTGGCTGTGCCTTTCAGCCCAGTGTGGTTGGTAGTGGTGCTGGGGTGAGTTAGCACTCTTGGTTTTGCAGCCTTCTAGCGGCTTTGTACCTCCTGCCCTGCAGTCTGACATTGAGTTGGCTTCTGTGGGCCCAGTGAGTGGGAATCTGTGGGGGCTGCTTTATTTAGATCAGTTATTTAGATCTTTATTTAGATCTTTCTTAGCTCTGTGAACCCCCTCCCAAACTCCTGTCCCACTGTACCTTCCTTACCCCTTTGTTCTCCTGACATCTTTGGTCGGGGCGCACATTAGCCTAGACCAGGGGAGACCTTTTTTTTTTTTTTTTTTTTTGAGAAAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTAGTGCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGATTCAAGTGATTCTTCTGCCTCTGCCTCGCCAGTAGCTGGGATTACAGGCGCTCGCCACCAAGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCCCGGCCTCTCAAAGTGCTAGGATTACAGGTGGAGCCACCTCGCCCAGCTGGGGAGACATTTTTAATTGTCACAACTGGGATGGTGCTATTGACATCTAGTGGGTAGAAGCCGGGGATACTGCTAAACATTCTACAGTGCACAAGAGAGTCCCCCACAACAAAGAACTGTGCAATCCAAAATGTCAGTGGTATGGAGGTTGAAAAACTCTAGCCTAGGCAATTGACCCAACAAGGAAGGGGCCCTATAAGTCTTAGCTTAGGCCTCAAGTCTGAGGCCCAGTAGGGGGAGACTAAGGAGGGACAGACTAGGCAGATGAATATCCCCAAGTCCTGCTTCCCAGCCCCCTCTGAGGCATACCCCCTAATTAGGCTGGGGAGGGAGGCAGGTGCTGGGTCAGCTGTTGAGTGGGAGGGGGACAGCTGGGGCCTGTGTCTGGGTGAGGAACATTATTGTCCCAGGAGGGGGAGAATCCTGGCCTCATTGCCAAGGGAGGCTGTGAATGGGGTGAGGGGTCTGTCTGTGAGTGGGGGCTTCAGGTTTGCCAGCTGACTCTGGCTCTTCCCCGCATCTCAAGAGCCTGGGGGTAAGGATCAGACGTGGGCGATCAGACGTGGGCAATATCTTAGATTTGCCAAATACACACATACTTGCTTACCTGTATACATTCCGGGTGTTCATGGATAACATGCAAGACACGCCCCTGCCCCAGCAGGCACAGGCAATCTGACCAGCAAGCTAGGATACTGGCCCTGGCTTCTGCCATGGTTTAAAATCCCAACTCCACCTTTTACTTACTCNNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 180,569 |
Gene CLPB (ClpB family mitochondrial disaggregase) variant at chromosome position 72294455 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | GGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACAGAAGAATGATAAAAGTACAGTGTTCTGGGACCAATCAG | GGTGTCCAGACCCTCTGCTTTGTGACTAACATGCAGACTGAATAAACTGCATGTTTATTCCAGGCTCGTTTAGCTGGACGAGCAGTACAGACAGGGCTGAGGCTGACTCCATGGCCATGTGGGCAGAGGTCAAACCCATGATCTCTCTTCCTACAGCTTCCTAATGTCTGCGATGTTGGTCTTTTGAAGGAGGCCCCCACAGAGCTGAGCTTGCTTGGTTATCTGGGACTGCTGCTCAGTCTGAGTAGGGGAGGGTAATGAACCAGTCAGGCCTCCTCCTGGAGGTGCCCAACACTGGCCTAGTCCCCAAGGCTGACGAAACATGGTCTGGCCTGACCCCAGGACGTGGGGTGAGGAGGAACACTGGGCATAATATAGTAGCGGAAACAGGCAAGCCTCTATGGGTCCCTTCCCCTTAGAATTTTAGGGTAGGGAACGAGGAGGCTACAGACTAAATTGCAGAACTATCTGCACCTGGGCCTCTGAGCTCTTCCTCCACTCCCAGTGGAGCCATTCTGGGGACTGAGTTGCATGAGGACTAGCAGAGGGTGGCAGTTCAGTCTGGTCCCTGTCTTCTTCCAGCCAGCTGTGTTCTTAGCTGCCATACTTCTGAGCTTCCTGGGAACATGAGAAAGTCTGGCGACTATGGGGGATGGGGATCATTCTGAAGGAAATAAGGGACCTCCATCCCTCCTTGCCTTGAAGGGGGTGGAAAGGCAGCTCCTCTCCTGAAGGCTTGTTAGCAGGTTATGGGCCCACAACAAAGGGGCCAGAGTAGGGCGAAATTCCTCCTTCAGGTTTTGGGGCTGAGAAGGGGTCTTCATGGGCTGTGAGGAGGTAAGCAGGCCTGAGACTGGGTAGAGATGGGAGCGGCATGAGGGGAAGGTAAGTCAGTTGCCATGCCACAGCCAAGGGGCCTTTATTGGATGGTGAGGGCACATAGGAGCAGGCAGGTGGCTGCTAGATGGTGTTGCACACCTTCTCAGGGTGCAGTGGTGCCCGGATGTCCAGTCTGCGAGTCTTGCTGTCCTTGTCGATGATCTCCAGACGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACAGAAGAATGATAAAAGTACAGTGTTCTGGGACCAATCAGNNNNNNN | benign | 180,622 |
Is the genetic variant on chromosome 11, position 72295503, gene CLPB (ClpB family mitochondrial disaggregase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGGCAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACAGAAGAATGATAAAAGTACAGTGTTCTGGGACCAATCAGTTGAAGGGTACAGAGCCCCGCTCACTCAGCGAACCTCAAGGGCATGACCGTACAACAGCACTTTATGTCATTTATAACAAAAGCAATGATCAGGGACTCCTTGAGAGCAAGCAATAGAGTGACAATGCCGAACACGGACAGGGACTTCTACTTTCATCACAGATGCTCTGCTTAGTGCTTTTTGTGTACAACCCCACTCCTTCTACTAGGAAAGTGGCTCCTTGACAACAGAGGCTGGGTCTTGTTCATCACTGTGTCCCAGAACAGCGTCCGGTACAGAGTAGGTGTTTGACACCTGCTTGCTGGAGGCTGGAATCTTCACATCCACCCTTGGAGGTAGGTGCAGTTAGGACCCCTACAAAGAAACTGAGGCTCAGAGAGGATCATAACTTGTTCGAGGTTTCACAGCTAGGATACAGTAGAGGCGAGACTTGAACTATCTGACCTCAGAGCCCATGCCCTTCCTCTGCACCAGGCTACAGAGGTCAGACCAATGGTGCTGGATGAATGAGGCCTCGTGCTATTTTCTTTCCTTCGACAGAATTTTCTCAGAATTCTGCCAAATTCAGTTTGATCCTCACTGGAGAGATGCAACTGGGACAGGTGCTAGGGAGGAGATCTACCTGAGATTTCTTTTGGGAAGCAGAGAAAGCACAGCTCCCGCCAAGCCAGAAACCGTGGCTCTGGGGATATACATCACTGACCTCAGCCTGTTGGCTCCTGCCTGAGCCAGGGATGCTGGGCCCTGCCCGAGCTTCAGGGTTAGCCCTTGCTTCTAAAGCCAGTGTAATGGTAAACCCAGTCCTACTCCTTAGGAGCAAAGGAGAAAGGACTGTGCATCAACCGAGCTAGCTTACTGCATGCTGGGTGTAGTTTCCAGCCTTGCTTTCCACTGGACCTTGGCAGAGGCCTTTGAGAAACTGTTAATTCCCAAAGGGTCTATACACAAGGGGCCTGGTAATCCACATCCTGGAGCTGGTCACTCTGCTGTCCCTGCCTTGGGGCAGGAAAAGGGAAGCAAGGGTGCAAGCAGATGTCCTTGAGCTTT | CGCAGCTTGGGGAGGCGCTTCTCAGCCTGGGGTGAGGGCAGTTCTGGGCTTTTGAGTAGCTGCTTGTCTGAGTCCTCCACCGTGATGCGCAAAGTACAGCCCCCTGGCAGCAGGTCCTGCTCATAGGCTGCTGCCAGCTGGTTCACCACACGGCGTTCTACCTGTCGGTGGGGAGGTGAAGTGGTCACTCCCTCGGCCTGGACCCAGCTTGGAGGTCGGCCTCCATCACTTACTGCTAGGGCAACTCAGAGACCTCCTTTGAGCCTGAGCCTCAGCTTTCTCATTTGCCAATTGGGGCTAATAACAGCTAGCTCGCAGGACTGCGCTCAAGTTTCTGAGGCTCCCAGCCCAGTTCCCTGGTCCTAGTGGGGTTCATACTGGGCTACCCTCCAGCAGGGGTTTTACTTGGTGATCATGTGTTTATGGTTCTGAATGGGCATCCACTCTGGGTGTGAATATCCAGCAACCAAGCTATAGGGAGGCAGGCTGAGAGCTCAGGGACTGGGTCTGGGGGGCCCTGGGGAGGGAGGTGTGGAGGCGCCTCATTTCTCAGGCTCCTGTGCTCACCTCATGTTTGATGGAGCGGGCGCCATAGTGCACATTGTAGCCGTCGACCAGCACATCTGCCACCTCGCGGTCCCAGAGCAGCGTGATGTTGTGCCTTTGCTTGGCCTGAGATGGGTCAGATAGAAGCATGCCTGCATGTGGCCCACTGCTTTCCATCTCTTGCCACTCTGGCCTGAGGCCAGGGCCACTGGCCCCACACCACTGTGCTCCACCTTTTATGTGTGTGGGGGTGCCCCCAGTCCAGTGTTCCAGATTTCCAGTGGCTGGCTATCCCGCCCCCACCCATGGGCAGTTCCCTCTTACTCTCTTGGCCCAGAAGTTTAGTTCCTTGTTGACGAGTTGGATGAGCTCCGAGTGGCAGAAGGGGAGGAAGTAGACGATCTCATTGATCCGTCCCAGAAACTCATCCCTCCGGAAGTGAGCCTGAAGGGCCAGGTTAGGGGTGGGATGAGCTCAGTGACCCAGAGCGGGTTAGGGAAATTACCAGACACCAGGGGAAGACTGGGGAAATTATGGGGCTTCCAGATCTTTAGGATGGCTAAGATCACCCTCCCCCAACCTTAGGCTCCAGCAGGAAGTGCCAAGAAAGACCTCTTACTTTCAGGATAGGGCGAATCACATTCTCCTTGAAGTTCTTTGAGATGGTGATCTTGTCACTTATCTGGACATCCCCTGTGGAGAAGAATCATAAACTGCTTATTCCCCACATTCAGGGAACTTTGGGGGCTGTGCCTGCCCCTTGGCCTGCCCATGGAAAGAGCCCTGGTCCTGTCCATCTGTGTGGTCCTGGTCAAGGTCTAAGGCTCTCTGGGCTTCAGCCTGGTCTCCTCCTCTGACCAGGCACTTTCGGAGGCCTTTCCAGCTCTCAAGTGTATGAAGTCTGCGATTCCTCAGGGTGGGAGTTGTGTGAGGGAGGGAGAGGAGAGGAAACGTCAGGATTAAGACTTGAGTCCTGACTTGGAGGAAGGGGGCTGCAGGGCTCGATCTTGAATGGAAAAGGTGACAGACACAGCTTCCTGCCGGATGTGCTCCTTTTTTTCAGCACTCTCCATGGCCCACCTACGCAGGAAGCTGCCCTGGGTGAACAAGGCTGTGTCCACTGCCATAGAGTTTTCGATCTGCTGTCCCCTTCTTGCACCAAAGCATCTGTGTCTCTTGCATGTGCATCTCCTCAGTCCCCTAAGACACTGAGCAGCTTCTGGCCCCCCACCCTGGTGTAGCTCTGTCCATTCCTGCCTGGAGCCCTCTTATCACCCAACAGACTTGAGGCTTTCTTGAAGTGGGGTCTCTGTCTCTTTTGTCTCAACCCCCACTACTTGGTATGGTGTCTGATATCTGCTCAGTGTCAGCTAGGGACAGAGCTGCCCACTAGAACCTTCACCTGGGCCCAGGGCCCCAATCCCATCCTTCCCCAGGAGATAGGCTGGTGGCTTGGTCACTGGACCAGACTGCTCAGGTCAGCCGCCATACCCAGGTTTTCGCAAATACGGTTACGGCTCATCTCCAAAGCTTCCTGCCTCAGCTGCAGCGCGTGCTGTGCGATCTCGTCGCTGGCCACATTGGAGGTCATGATGAAGATGGCGTCCTTGCAATCAATGGTCTTCCCTTTTCCATCTGTCAGCCGGCCCTGGGAAGGGAAGGAAGGGAGTGTACAGTCAGGGAGCTATGTGCCTGGGCAGGCCTTAGCACTCTCAGTTCTCACCTCCTTCAGGAGGCCTCCCCAGAGCCCTGTGTCTCCCTCCAGCCCCAGCAGCCAGCTGCTTCCTCCTCTGGGTTCTCCGAGCACTAGACTTGCACCTTGGCTGCTGTGCTCACCGCCCTGCGCTGCAACTGCTCTCCCTACTGAGTGCCTCCAGGTGAGGCTGCAGTTGCTCTCTGGCATCTCTTGGGGCACCCAACTATCCCTGGCATGCAGAAGTCAGTCACAGTTAGCCATTCATTTGTGCAACCAACACATTTTTTGGAGGCCCGCTGTGGGCCAGGATCTGTGGTGGGGTACTGGGGTCCCACTGAGCCTACAACATGCTCCCAGTATAGAGAAGCAGTGAGATACAGGAAACAAGCACTGACCATCCAATATGTTACGTATGATAATAAAGGGAAGCCCAGCATGCTGCAGGAATTCAGAGGAGGGTACTTTACATGGCTACTGTCAGGACTAGATGTGGTTATCTGGTGAAAATTCTTAGTAAACCATGCTGTTCAAATGTTCAGAGCTATTATTACTGTAGTAGGTGATATATAATGAAACAGGACAACCTCTTTTATCTTTGGAGCTGCCGCCTGGCCTAACAGGGATAAAAAATGAGATTGCTTCTTTAACCACCTTGGGAAGTTTCCTTGGAATCTTCAGCTCTTTCTAGAAGGGACAAAGGAGGCATCTATACTGGAGAAAGATGCACCAAAGAAGGAGAAAAGGAGCAAACAGTATAGGGCAGAGACAGAAGAATGATAAAAGTACAGTGTTCTGGGACCAATCAGTTGAAGGGTACAGAGCCCCGCTCACTCAGCGAACCTCAAGGGCATGACCGTACAACAGCACTTTATGTCATTTATAACAAAAGCAATGATCAGGGACTCCTTGAGAGCAAGCAATAGAGTGACAATGCCGAACACGGACAGGGACTTCTACTTTCATCACAGATGCTCTGCTTAGTGCTTTTTGTGTACAACCCCACTCCTTCTACTAGGAAAGTGGCTCCTTGACAACAGAGGCTGGGTCTTGTTCATCACTGTGTCCCAGAACAGCGTCCGGTACAGAGTAGGTGTTTGACACCTGCTTGCTGGAGGCTGGAATCTTCACATCCACCCTTGGAGGTAGGTGCAGTTAGGACCCCTACAAAGAAACTGAGGCTCAGAGAGGATCATAACTTGTTCGAGGTTTCACAGCTAGGATACAGTAGAGGCGAGACTTGAACTATCTGACCTCAGAGCCCATGCCCTTCCTCTGCACCAGGCTACAGAGGTCAGACCAATGGTGCTGGATGAATGAGGCCTCGTGCTATTTTCTTTCCTTCGACAGAATTTTCTCAGAATTCTGCCAAATTCAGTTTGATCCTCACTGGAGAGATGCAACTGGGACAGGTGCTAGGGAGGAGATCTACCTGAGATTTCTTTTGGGAAGCAGAGAAAGCACAGCTCCCGCCAAGCCAGAAACCGTGGCTCTGGGGATATACATCACTGACCTCAGCCTGTTGGCTCCTGCCTGAGCCAGGGATGCTGGGCCCTGCCCGAGCTTCAGGGTTAGCCCTTGCTTCTAAAGCCAGTGTAATGGTAAACCCAGTCCTACTCCTTAGGAGCAAAGGAGAAAGGACTGTGCATCAACCGAGCTAGCTTACTGCATGCTGGGTGTAGTTTCCAGCCTTGCTTTCCACTGGACCTTGGCAGAGGCCTTTGAGAAACTGTTAATTCCCAAAGGGTCTATACACAAGGGGCCTGGTAATCCACATCCTGGAGCTGGTCACTCTGCTGTCCCTGCCTTGGGGCAGGAAAAGGGAAGCAAGGGTGCAAGCAGATGTCCTTGAGCTTT | benign | 180,626 |
Variant at chromosome position 72373006, chromosome 11, gene CLPB (ClpB family mitochondrial disaggregase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['3-methylglutaconic_aciduria,_type_VIIB'] | TTATTGCTCATTACTCTCTAAGATGAATCTTCTGCTGTGTGCCTGCTTCACCCTAACATGTTCGTCTATCAGCGTGAAACATAATTTTTCTGTTTCTCATATCTGAGTGGTTTTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTTACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACAACCCACTACACCTGGCTAATTAAAAAATATATATATTGGGCAGGGCGTGGTGGCTCATTACTAATCCTGGCACTTTGGGAGGCCAAGGTGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAATAAAAAATTTTGCCAGGCATGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCATAGGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGAGAGCTGAGATCATGCCACTCACTGGACTCCAGCCTGGGCAACACAGCAAGACTCTGTCTCAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAGTTGTGTAGAGATGGGGTCTCACAATGTTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAGTCCTCCTGGTTTAGCCTTCCAAAGTCTTGCGATTATAGGCATGAGCCACCACACTCGACCACTCTGTATGTTTTGAATATAGCACACCCCTTCTCTACTCACATTCAATTGCACTCACCTGTCAACCCTCCATACAGCTGTCCAAAACCTTCCTATACTTGGAGGCTCAAATGTCATTTTATTTCCTTGACTTCTCAGCCACAGATTCTCTTCTCTGAGCTCTGATAGTCCTTGTTATCTGAACCTCTGACTGGACCCTTTGTCAAATATTGTTTTGGTAATGTCTTACATCTTTATTATTACTAATTATTGTTCTTGCAAGCACCTTACATTTGCACAATGCCTTGTATTTTCTCAAGCGCTTTCGTAAGTACTCCAATTTGGGCCTTAAAATAAGCCTATGGTGTAGGAAATATTATTCTCTACAGATGCGAAAATCAAGCTCAGAGAGCGAAGAAGAACTGCCAAGGTCACACAGTTAGGTAATGGCTAAGCCATTCCTTGGACTCTAAATAATATTTGGCTCTTTGAGGGTTAATGGTTTGCTACCAGAGGAAAGCATTTGGAAGGCTGTGTCAAAGACTGACATTCCGTTAAGAATATGAGGAGGAGGATGTAGAAACACAGGTTTACATTCACAGAATTTCTTCTATGTTCTGGGGTTTAGGTTAGGCGTAAATGTACTATGCTGCCTCCCAATAACCTTTATTTTACAAATAAGGAGACAGTGCCTCTGGCAGGTATAGAAAATTGCTCCAGGTGTCAGAGCTATTAAGTGTTCTGCACACATATAATACCATGGCTTAAACACATAGCCTCTCTAGGAGTGAAGCTTAAAGTGGCAAAATAAGATCTCTGGTAGGGAGGTGAAGGCCCAGATGAGTTTTTTAAGCAGTTCAAGCACAACACCACAACTAATACCTGTAGTCCAAATCATGCTTCCCAAAGGGTAGGAGCCTATTATTAGAAACGCAAAACCTCGGGTCCCACCCCAGACATACTCAATCAGAATCTCTGAGGGTAGGGTCCAGGAACCTGTGTTTTAACAAGCTCTCTAGGGGATTCTTATTTCCTTGGGAGCCTTATTATTCTCATCTGAGTTTTTGCTCTCCAAGAGCATGCATTCTCTCTGCTATGCTTGGGTTAGGCTGGGCACACAGTGGGTGCTGGGTAGTTAACTTATACTGAGTAAAAGAGATAGTCAGATGAGACCATCCTTGGCATGTCCTGGGGAGGGGGAGAAATATTATACAGAGCAGTTCCATTACCGCCAGCGGGGAGTCCTAGCCATCTCCTGAACTCCAGGGCACTTGTCCACTGGTTTGTGATGTGCCGGCTTGCACCGTCCTGTCCCCCATCTGAAGACACAGAGATGGGGAGGTCAGCTGGAGCAGGCCAGGTCCTGCAGGCCCTGGAGCTCTGGGAAGGGGGCACTCAGGCTGGTGGGGTTGTTCCAAGCCCTCTACCCCCAGAAGGGCCCTATGCCAACCCAGCTTCTGCCCCACTCATCTTTATTCAGCTGCCACTTGGAGCTGAGAAGAGAGGCTGATTTATAGCCTGCTCTGGCTGCGTCTCTGCCGTGTTTTATTGTTTTAATTGTACATATGAGAGGCACTCAAAATGCTTGCTTGCATTTCTGACAGCCCCAGACACCCAATGTTTATAACAGTTACTTATAAGCAGCCAGCGGCAACCCCGGCTGGGCGACTTGTTTACTGTTACCACTAATTTATTACCTCCTCCATCTGAGGATTACGGCCCCCACCCATCAGCCAGCCACAAGTGGAACACTCCTGGAGTGGGCATGGGTAGGGCTCAAGGCACTGAATGGAATGTGGTTGAGATCAGGGAATAGGTTGGCAGAGGAACAGCTATGATCCTCATACTTCTCTCTACATTTATTCCATCTCACAGACATTCTAAGCTGTGCCCTCTGCTTTTTTATTTTTCCCCATCCTCTTCATCCTCCAAAGCCCAACTCAAATCCCACTTCTTTCAAGAATATCACATTGGGTGCAGTGGCTTACCCCTGTAATGCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCTGCAGTTAGAGACTAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAGTATTAGTAAAATAAAAATAAAAATTAGCCGGGCGTGGTGGTGGCGCCAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCCAGTCTGGGTAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAACATTACTTGCTCTGATAGTGAGCCTAGAGCTTCTAAACATTAGAAATCACATGGCTGACAGGGGCACCGGAGGCCAGATAATCCAATGACCCATGGCGAGAATCCCCTTTACAGAATCCATGATGGGCAGACATCTCAGCTGTTAGTACCCCTTGAGTGGTGAGTTGCTCAATACCTCCTAGGCAGGCTTCCTGCTTTACACTTTGCCAAAACCCACCTCCATAGAGAAATTCTTTATTAAATGTCACTGTGCTTTAAATATATATGATTATCTCTAATCATCCTAACAACCCTATAAGATGGGTATTGTTTTTACTATGTTACAGATGAGAAAATTGAAATTCAGAGACTTTAAGTCATTTACTCAAGATCACACATCTAGTAATAGAGCTTAGATGAATCATTCAGATATCTGGTACTGAAGCCCAATCTTTCTCTAGGACACCAATGTGCCTCTGAAGATGCCACTCTGAGGGCTGGAGGGAAAGCAAAGAACAATCAGGCCAACAAGATTTCCATACCAAGCATCCTTGGGTTACCTGAACCAGTAAGACTGCCCTCTACCCAGAAACACCAACTTTGACAAAAGTGGACCCAGCTAAGTAGGCTTCTTGCTAAAGAGCAAATGCTCACATGACATGGGAGAAGAGTGTCACTAGGAATGGCATAACCAAAGATAAAGTCTCAGCAAGGATGGCAAAGAAGTTTCTTTCCTCCCTAGGCTGTGTCTGTTCTCAGCAGGTAAAACAGATACAAAGCATCTTTGATACCTTTTAGTTTTCTTGCCTGGATCCTTTTTCCTGCTCACACCTTAAATGCTGGTATCCTGAGTAAAGGACTTGTCCTCCTACCACCCCCTCACTTTAAATCCTTTCTTTGGGCAATTTTGGTTACATCTATTGTTTTAACTCCCAAGGAAATGGAAAATACTCCTAAATCCCTATCTCCTGCCAAACTACTCCTTTGAGCTCTCCAGACCCACATATCTAACTATTCACTCAAATTGGAAACTGAGGTGTCACCATGCATACCTCCTTTTCCATCAATTCTCACAATCCACTGAGTACT | TTATTGCTCATTACTCTCTAAGATGAATCTTCTGCTGTGTGCCTGCTTCACCCTAACATGTTCGTCTATCAGCGTGAAACATAATTTTTCTGTTTCTCATATCTGAGTGGTTTTTTTGTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCATGGCTTACTGCAGCCTTGACCTCCTGGGCTCAGGCAATCCTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGCACAACCCACTACACCTGGCTAATTAAAAAATATATATATTGGGCAGGGCGTGGTGGCTCATTACTAATCCTGGCACTTTGGGAGGCCAAGGTGGGCAGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAATAAAAAATTTTGCCAGGCATGGTGGCACATGCCTGTAATCCCAACTACTCAGGAGGCTGAGGCATAGGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGAGAGCTGAGATCATGCCACTCACTGGACTCCAGCCTGGGCAACACAGCAAGACTCTGTCTCAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAGTTGTGTAGAGATGGGGTCTCACAATGTTGCCCAGGCTGGTCTTGAACACCTGGGCTCAAGCAGTCCTCCTGGTTTAGCCTTCCAAAGTCTTGCGATTATAGGCATGAGCCACCACACTCGACCACTCTGTATGTTTTGAATATAGCACACCCCTTCTCTACTCACATTCAATTGCACTCACCTGTCAACCCTCCATACAGCTGTCCAAAACCTTCCTATACTTGGAGGCTCAAATGTCATTTTATTTCCTTGACTTCTCAGCCACAGATTCTCTTCTCTGAGCTCTGATAGTCCTTGTTATCTGAACCTCTGACTGGACCCTTTGTCAAATATTGTTTTGGTAATGTCTTACATCTTTATTATTACTAATTATTGTTCTTGCAAGCACCTTACATTTGCACAATGCCTTGTATTTTCTCAAGCGCTTTCGTAAGTACTCCAATTTGGGCCTTAAAATAAGCCTATGGTGTAGGAAATATTATTCTCTACAGATGCGAAAATCAAGCTCAGAGAGCGAAGAAGAACTGCCAAGGTCACACAGTTAGGTAATGGCTAAGCCATTCCTTGGACTCTAAATAATATTTGGCTCTTTGAGGGTTAATGGTTTGCTACCAGAGGAAAGCATTTGGAAGGCTGTGTCAAAGACTGACATTCCGTTAAGAATATGAGGAGGAGGATGTAGAAACACAGGTTTACATTCACAGAATTTCTTCTATGTTCTGGGGTTTAGGTTAGGCGTAAATGTACTATGCTGCCTCCCAATAACCTTTATTTTACAAATAAGGAGACAGTGCCTCTGGCAGGTATAGAAAATTGCTCCAGGTGTCAGAGCTATTAAGTGTTCTGCACACATATAATACCATGGCTTAAACACATAGCCTCTCTAGGAGTGAAGCTTAAAGTGGCAAAATAAGATCTCTGGTAGGGAGGTGAAGGCCCAGATGAGTTTTTTAAGCAGTTCAAGCACAACACCACAACTAATACCTGTAGTCCAAATCATGCTTCCCAAAGGGTAGGAGCCTATTATTAGAAACGCAAAACCTCGGGTCCCACCCCAGACATACTCAATCAGAATCTCTGAGGGTAGGGTCCAGGAACCTGTGTTTTAACAAGCTCTCTAGGGGATTCTTATTTCCTTGGGAGCCTTATTATTCTCATCTGAGTTTTTGCTCTCCAAGAGCATGCATTCTCTCTGCTATGCTTGGGTTAGGCTGGGCACACAGTGGGTGCTGGGTAGTTAACTTATACTGAGTAAAAGAGATAGTCAGATGAGACCATCCTTGGCATGTCCTGGGGAGGGGGAGAAATATTATACAGAGCAGTTCCATTACCGCCAGCGGGGAGTCCTAGCCATCTCCTGAACTCCAGGGCACTTGTCCACTGGTTTGTGATGTGCCGGCTTGCACCGTCCTGTTCCCCCATCTGAAGACACAGAGATGGGGAGGTCAGCTGGAGCAGGCCAGGTCCTGCAGGCCCTGGAGCTCTGGGAAGGGGGCACTCAGGCTGGTGGGGTTGTTCCAAGCCCTCTACCCCCAGAAGGGCCCTATGCCAACCCAGCTTCTGCCCCACTCATCTTTATTCAGCTGCCACTTGGAGCTGAGAAGAGAGGCTGATTTATAGCCTGCTCTGGCTGCGTCTCTGCCGTGTTTTATTGTTTTAATTGTACATATGAGAGGCACTCAAAATGCTTGCTTGCATTTCTGACAGCCCCAGACACCCAATGTTTATAACAGTTACTTATAAGCAGCCAGCGGCAACCCCGGCTGGGCGACTTGTTTACTGTTACCACTAATTTATTACCTCCTCCATCTGAGGATTACGGCCCCCACCCATCAGCCAGCCACAAGTGGAACACTCCTGGAGTGGGCATGGGTAGGGCTCAAGGCACTGAATGGAATGTGGTTGAGATCAGGGAATAGGTTGGCAGAGGAACAGCTATGATCCTCATACTTCTCTCTACATTTATTCCATCTCACAGACATTCTAAGCTGTGCCCTCTGCTTTTTTATTTTTCCCCATCCTCTTCATCCTCCAAAGCCCAACTCAAATCCCACTTCTTTCAAGAATATCACATTGGGTGCAGTGGCTTACCCCTGTAATGCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCACCTGAGGTCTGCAGTTAGAGACTAGCCTGGCCAACATGGTGAAACTCCATCTCTACTAAAAGTATTAGTAAAATAAAAATAAAAATTAGCCGGGCGTGGTGGTGGCGCCAGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGTCATTGCACTCCAGTCTGGGTAACAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAACATTACTTGCTCTGATAGTGAGCCTAGAGCTTCTAAACATTAGAAATCACATGGCTGACAGGGGCACCGGAGGCCAGATAATCCAATGACCCATGGCGAGAATCCCCTTTACAGAATCCATGATGGGCAGACATCTCAGCTGTTAGTACCCCTTGAGTGGTGAGTTGCTCAATACCTCCTAGGCAGGCTTCCTGCTTTACACTTTGCCAAAACCCACCTCCATAGAGAAATTCTTTATTAAATGTCACTGTGCTTTAAATATATATGATTATCTCTAATCATCCTAACAACCCTATAAGATGGGTATTGTTTTTACTATGTTACAGATGAGAAAATTGAAATTCAGAGACTTTAAGTCATTTACTCAAGATCACACATCTAGTAATAGAGCTTAGATGAATCATTCAGATATCTGGTACTGAAGCCCAATCTTTCTCTAGGACACCAATGTGCCTCTGAAGATGCCACTCTGAGGGCTGGAGGGAAAGCAAAGAACAATCAGGCCAACAAGATTTCCATACCAAGCATCCTTGGGTTACCTGAACCAGTAAGACTGCCCTCTACCCAGAAACACCAACTTTGACAAAAGTGGACCCAGCTAAGTAGGCTTCTTGCTAAAGAGCAAATGCTCACATGACATGGGAGAAGAGTGTCACTAGGAATGGCATAACCAAAGATAAAGTCTCAGCAAGGATGGCAAAGAAGTTTCTTTCCTCCCTAGGCTGTGTCTGTTCTCAGCAGGTAAAACAGATACAAAGCATCTTTGATACCTTTTAGTTTTCTTGCCTGGATCCTTTTTCCTGCTCACACCTTAAATGCTGGTATCCTGAGTAAAGGACTTGTCCTCCTACCACCCCCTCACTTTAAATCCTTTCTTTGGGCAATTTTGGTTACATCTATTGTTTTAACTCCCAAGGAAATGGAAAATACTCCTAAATCCCTATCTCCTGCCAAACTACTCCTTTGAGCTCTCCAGACCCACATATCTAACTATTCACTCAAATTGGAAACTGAGGTGTCACCATGCATACCTCCTTTTCCATCAATTCTCACAATCCACTGAGTAC | pathogenic | 180,661 |
Evaluate the clinical significance of the mutation at chromosome 11, position 74042223 in gene C2CD3 (C2 domain containing 3 centriole elongation regulator): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | TTGTGAACTGCTCATGTGAGGGATCTAGGTTGTGCGCTCCTTATGAGAATCTAAATAATGCCTGATGATGGGAGGTGGAACAGTTTCATCTGGAAACCACCCCCCACCCCCAACCCCACCCTTGTGGAAGAAAAATGGTCTTCCACAAAACCAGTGTCTGGTGCCAAAAAGGTTGGGGCTGCTGGTCTATAGCACTATTGATCAATTTTTAACTTGTCTCATTAACCAAAAAGATTTTGTTGATGTTTCTTTTCTGACTTTGCATTATGAATCAAAGAATAGGTTAGTTTTTTTTTTTTCAAATATAAAGTCTTTTGGCCGGGTGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGGTCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACTAGCTGGGTGTGGTTATGGGCACCTGTAATCCCAGCTACTTGGGAGTTTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCGGGGCAACAGTGCGAGACCCCATCTCAAGAAAAACAAAAACAAAAACAAACAAACAAAAAAGCCGGAAGCCGCAGTGGCTCAGGCCTGTTGTCCTGGAGAATAAGGAGGGAAGCAAGGCCAGGTGTTCGAGCCCAGCCTGGGCAGCATAGGAAGCCTTTATCTATCACACACACACACGCACACACACACACACACGCACACACACACACCCCTTTTAAACATTTTTTCCTTAAATTTTTTTTTTTTTTTTTTGGTGCTATAACAGATTTTACTCATGTCAATAAAAACTGACAAACATGATTATCTGAAATCTGTATGGGTAACTTTTTAAAGATGGAGTACATTTTGATTGTAGCAACCTCCATATTGTTCTTTTAAGTGGTTACATAATGTTGATACTTTCATTTTTCCTTAAATTTTACATACTCTCCTCCTTTCCTTCCTCCAACACCTTTCACTTAAGAATAATTGTTCTAAGGGTAATAATTCTTAGTCTGACATTCAAGGACCTTCATGATGTGACTCTTAAAAAATTCACCCTGCTTCTTGCATCTTATGCTCAGCTTTTTCCTACATGCACTGCTGGCATTTCCCCAAACTTGACTTGCCCCTGAGCCTTGGCGTAAGTTCTTTCTGCACAAAATGTCCTCCAAAGACCAGTTCAAATGTGACTTCTTTAAATCTTTCCAGGAACAATCCAGAATATTAGGCATTCCCCTGTCTACTCTTGGCCAGGGAAATTGCAGCTCTTACTACCCTGCATTATAATTATTTGGCAACATGGCTATCTCCTCCACTGAGATGGGCAGAGCAAGGATTGGAGGTCAAGTCTATCTGACCCTGAAGCCATGTCCTTTCCACTGTGCCACACTTTTCATTAGATAAGCTAGGGGCTGATCTAGCTGATCTATCATCACCCTTTCAATTCTCACAGCGATTCTCTGGCTCAGGTGCTAACTAAACTAAGAAAGGAACAGAAAAGAGTTAACAGGACAGAGGCTGGTCTGGACGAAGTAAATGGTTGTGAGGTTGTGAGGCTGGTTATTATTAAGTTTTGGTGAACAATCTGAAGCTCCTACATTTACAGGTGCATCAGTAACAGAGCCCCCTGAAGGAATGGAAGGTCCCAAGCTGATACAGATTCATCTATGAGGAATCCCATGAGGCTCCAGGGTCCAACCTGATACTAACATGCAAAAGAGCCCTCTACTAATGTTCCTAGGGCGGTGGCAGGTGATGGAAAAGCAGTAATGCACATTGCCATTTCTCATTCACCTTGTGCCCCACTATGGTTTCCTGTGTCTTTTCTCAGTAGAGCCTCACCTGAGAGAAGTCAGAATGGAGGTTTGGGAGGACAAAGGTGATGTGGTCAGTTTGTCATCACATGGCAAGGGTGCCTCTCCCTGAAGATGCAGGGATTCATGAAACCGGCGAATGTTCTGCACATGCTCTTCATGGCGTGATGCTTGGCTTCTTGTGGTATCACTTCTGTCAAAAAAAAAAAAAAAAAAAGTAGGAGCAAAATAAATTCCCAATCAATGAGAACACTGCTAGTGTGACAATAAACAAATCACTATCCTGAAATGGAATGCAAATCTATCCCCACTATCACAGTTCTGGCCTTATCATCTCTTGCTTGGATTATAAATGTCTCCAAAATAATCCTGTCTTCAATCTTGCCTACCCCCTTTTAACTCATTCTTCACAACAAGCAGAGTGATTTTTCTAAAACATAAATCTGGCCGGGGGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGTGGGTGGTTCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGTCAATATGGCGAAACCCTGTCCCTACTAAAAGCACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACGCCAGAGGCCATGGCAGGAGAATCACTTGAACCTGGGAAGTGGAGGCTGCAGTGAGCAGAAATCATGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAGCCCCCCAAAACCAAAAACCATAAATCTGAAGTAATAATAACAAGAGCAACAATAACAACAATATATTTGGCGTCCTTATTATATGCCAAGCCCTGCTGTAAGCATTCAACATATATTACGCCATGTGATTATCACCATTCCTTTCTGGCTTTGGCTTTTAAACAAATCTCAAATTCCTGAGCATGATATTCAAGATCATGACTCCAACAATCTCTTTTTAATTCACCGCTTTATTGAGATATAATTCACATGCCATACAATTCACCTATTTAAAGTGTATTATTCAATGGTTTTTAGTATATGCAGTTACGTAACTGTTACCACAATCAGTTTTAGAACATTTTTACCACTCACAAAACAACCTCATACCCATTAGAACCATTCTACATTTCCTGGTCCTAGGCAACTACTAATTTATTTTCTGCCTCAATAGGTTTGCCCATTCTGGATATTTCATATAAATGGAATCATATAATATGTGTTTTTTGGTGACTGGCTTCTTTCATTTAGCATAATGTTTTCAAGCTTCATCTGTAGTACAGCATGTATCAGTCCTTCATTCCTTTTTACAGCTGAATAATATTCTGTTGGATAGATATACCACATTTTGTTTATCTACTCAGTTGACGGGCATGAGTTGCTTCTACTTTTTGGTTATTAGGAATAATGCTACAAACATACGTGTACAAGTTTTTGTGTGGACATTTGTTTTCATTTCTTTTGGGCATAAAACTAGAAGCAGAATTACTGGGTCATATGGTTACTCCATGTTTAAGGAACTTCCAGATTATTTTCCAATGCACCTGCAGTGTTTTACTATCCCACCGGCAATGTATAAGGGTTCCAATTTATCTACCCCTTCCTAAGGCTTGAGATATCTTTTTTTTTTTTTAAATACAGTCACCCTAGTGGATATAAAGTGGTACCTCATTGTGGTTTTGATTTGCATCTTTTACTGTGATTATTGGCCATTTGTATATCTTTTTTTGAAGAAATGTCTATTCAGATCCTTTGCCCATTTTTAAACTGGTTATTTGCTTTTTATTATTGAGTTGTAAGAGTTCTTTATATATTCTATATATTATTTTGAGACAGGGTCTCACTTTGTCTTCCAGGCTGGAGTGCATGGCTCAATGCAGCCCTGACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTAGCTGAGACCACAGATGTGCACCACCAAGTCTGAGTAGTTTTTTAATTTTTTGTGGAGATGGGCTCTCACCATGTTGCCCATCTCTATAAAAAATAATAACATGGTCTTGACCTCCTGAGTTCAAGCGATCCTCCCACCGCAGCCTCCCCAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGTCCCCTTTATATGTTCTAGATATAAGATCTATAACTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAAGAGATCGAGACCATAGTGACCAA | TTGTGAACTGCTCATGTGAGGGATCTAGGTTGTGCGCTCCTTATGAGAATCTAAATAATGCCTGATGATGGGAGGTGGAACAGTTTCATCTGGAAACCACCCCCCACCCCCAACCCCACCCTTGTGGAAGAAAAATGGTCTTCCACAAAACCAGTGTCTGGTGCCAAAAAGGTTGGGGCTGCTGGTCTATAGCACTATTGATCAATTTTTAACTTGTCTCATTAACCAAAAAGATTTTGTTGATGTTTCTTTTCTGACTTTGCATTATGAATCAAAGAATAGGTTAGTTTTTTTTTTTTCAAATATAAAGTCTTTTGGCCGGGTGCAATGGCTCACGCCTGTAATCCCAGCACTTTGGGGTCACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAAACTAGCTGGGTGTGGTTATGGGCACCTGTAATCCCAGCTACTTGGGAGTTTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCAGAGGCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCGGGGCAACAGTGCGAGACCCCATCTCAAGAAAAACAAAAACAAAAACAAACAAACAAAAAAGCCGGAAGCCGCAGTGGCTCAGGCCTGTTGTCCTGGAGAATAAGGAGGGAAGCAAGGCCAGGTGTTCGAGCCCAGCCTGGGCAGCATAGGAAGCCTTTATCTATCACACACACACACGCACACACACACACACACGCACACACACACACCCCTTTTAAACATTTTTTCCTTAAATTTTTTTTTTTTTTTTTTGGTGCTATAACAGATTTTACTCATGTCAATAAAAACTGACAAACATGATTATCTGAAATCTGTATGGGTAACTTTTTAAAGATGGAGTACATTTTGATTGTAGCAACCTCCATATTGTTCTTTTAAGTGGTTACATAATGTTGATACTTTCATTTTTCCTTAAATTTTACATACTCTCCTCCTTTCCTTCCTCCAACACCTTTCACTTAAGAATAATTGTTCTAAGGGTAATAATTCTTAGTCTGACATTCAAGGACCTTCATGATGTGACTCTTAAAAAATTCACCCTGCTTCTTGCATCTTATGCTCAGCTTTTTCCTACATGCACTGCTGGCATTTCCCCAAACTTGACTTGCCCCTGAGCCTTGGCGTAAGTTCTTTCTGCACAAAATGTCCTCCAAAGACCAGTTCAAATGTGACTTCTTTAAATCTTTCCAGGAACAATCCAGAATATTAGGCATTCCCCTGTCTACTCTTGGCCAGGGAAATTGCAGCTCTTACTACCCTGCATTATAATTATTTGGCAACATGGCTATCTCCTCCACTGAGATGGGCAGAGCAAGGATTGGAGGTCAAGTCTATCTGACCCTGAAGCCATGTCCTTTCCACTGTGCCACACTTTTCATTAGATAAGCTAGGGGCTGATCTAGCTGATCTATCATCACCCTTTCAATTCTCACAGCGATTCTCTGGCTCAGGTGCTAACTAAACTAAGAAAGGAACAGAAAAGAGTTAACAGGACAGAGGCTGGTCTGGACGAAGTAAATGGTTGTGAGGTTGTGAGGCTGGTTATTATTAAGTTTTGGTGAACAATCTGAAGCTCCTACATTTACAGGTGCATCAGTAACAGAGCCCCCTGAAGGAATGGAAGGTCCCAAGCTGATACAGATTCATCTATGAGGAATCCCATGAGGCTCCAGGGTCCAACCTGATACTAACATGCAAAAGAGCCCTCTACTAATGTTCCTAGGGCGGTGGCAGGTGATGGAAAAGCAGTAATGCACATTGCCATTTCTCATTCACCTTGTGCCCCACTATGGTTTCCTGTGTCTTTTCTCAGTAGAGCCTCACCTGAGAGAAGTCAGAATGGAGGTTTGGGAGGACAAAGGTGATGTGGTCAGTTTGTCATCACATGGCAAGGGTGCCTCTCCCTGAAGATGCAGGGATTCATGAAACCGGCGAATGTTCTGCACATGCTCTTCATGGCGTGATGCTTGGCTTCTTGTGGTATCACTTCTGTCAAAAAAAAAAAAAAAAAAGTAGGAGCAAAATAAATTCCCAATCAATGAGAACACTGCTAGTGTGACAATAAACAAATCACTATCCTGAAATGGAATGCAAATCTATCCCCACTATCACAGTTCTGGCCTTATCATCTCTTGCTTGGATTATAAATGTCTCCAAAATAATCCTGTCTTCAATCTTGCCTACCCCCTTTTAACTCATTCTTCACAACAAGCAGAGTGATTTTTCTAAAACATAAATCTGGCCGGGGGTGGTGACTCACGCCTGTAATCCCAGCACTTTGGGGGGCTGAGGTGGGTGGTTCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGTCAATATGGCGAAACCCTGTCCCTACTAAAAGCACAAAAATTAGCTGGGTGTGGTGGCAGGCGCCTGTAATCCCAGCTACGCCAGAGGCCATGGCAGGAGAATCACTTGAACCTGGGAAGTGGAGGCTGCAGTGAGCAGAAATCATGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTGTCTTAAAAAAAAAAAAGCCCCCCAAAACCAAAAACCATAAATCTGAAGTAATAATAACAAGAGCAACAATAACAACAATATATTTGGCGTCCTTATTATATGCCAAGCCCTGCTGTAAGCATTCAACATATATTACGCCATGTGATTATCACCATTCCTTTCTGGCTTTGGCTTTTAAACAAATCTCAAATTCCTGAGCATGATATTCAAGATCATGACTCCAACAATCTCTTTTTAATTCACCGCTTTATTGAGATATAATTCACATGCCATACAATTCACCTATTTAAAGTGTATTATTCAATGGTTTTTAGTATATGCAGTTACGTAACTGTTACCACAATCAGTTTTAGAACATTTTTACCACTCACAAAACAACCTCATACCCATTAGAACCATTCTACATTTCCTGGTCCTAGGCAACTACTAATTTATTTTCTGCCTCAATAGGTTTGCCCATTCTGGATATTTCATATAAATGGAATCATATAATATGTGTTTTTTGGTGACTGGCTTCTTTCATTTAGCATAATGTTTTCAAGCTTCATCTGTAGTACAGCATGTATCAGTCCTTCATTCCTTTTTACAGCTGAATAATATTCTGTTGGATAGATATACCACATTTTGTTTATCTACTCAGTTGACGGGCATGAGTTGCTTCTACTTTTTGGTTATTAGGAATAATGCTACAAACATACGTGTACAAGTTTTTGTGTGGACATTTGTTTTCATTTCTTTTGGGCATAAAACTAGAAGCAGAATTACTGGGTCATATGGTTACTCCATGTTTAAGGAACTTCCAGATTATTTTCCAATGCACCTGCAGTGTTTTACTATCCCACCGGCAATGTATAAGGGTTCCAATTTATCTACCCCTTCCTAAGGCTTGAGATATCTTTTTTTTTTTTTAAATACAGTCACCCTAGTGGATATAAAGTGGTACCTCATTGTGGTTTTGATTTGCATCTTTTACTGTGATTATTGGCCATTTGTATATCTTTTTTTGAAGAAATGTCTATTCAGATCCTTTGCCCATTTTTAAACTGGTTATTTGCTTTTTATTATTGAGTTGTAAGAGTTCTTTATATATTCTATATATTATTTTGAGACAGGGTCTCACTTTGTCTTCCAGGCTGGAGTGCATGGCTCAATGCAGCCCTGACCTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCTAAGTAGCTGAGACCACAGATGTGCACCACCAAGTCTGAGTAGTTTTTTAATTTTTTGTGGAGATGGGCTCTCACCATGTTGCCCATCTCTATAAAAAATAATAACATGGTCTTGACCTCCTGAGTTCAAGCGATCCTCCCACCGCAGCCTCCCCAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCAGTCCCCTTTATATGTTCTAGATATAAGATCTATAACTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAAGAGATCGAGACCATAGTGACCAAN | benign | 180,791 |
Clinical significance of chromosome 11, position 74098016, gene C2CD3 (C2 domain containing 3 centriole elongation regulator): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Orofaciodigital_syndrome_type_14'] | GTACTAATTACTATTTCAAATCAGTTGGGTATAACACCAGGACTGTCCAATAATGGTAAGGACTACTTTGGGAGGTAGTGAAGACACTGTTACTAAAGGTAATAACAACAAATAATCGTGTATTTATTGAGGATTTACTATGAACCAGGCACTATACCAAACAGCTCACCTTCATTAAGTGATTTAACATGCAGAGCTAGTAACAGTGGAACCAGGTTTAGACTCAACGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAGCTACTTAATTTGGCCTTATAGTATCACAGCAATTTGATATTCAGTTCTGCAAATGGTGAATTGGATGAGAGGCATGAGTAGAGGAGGAAAAACAATTGTTTTTATAGATATCTAATCCCACAGGTAAATCTTTCAAGGATTTCCTCTGTGCATGTAGTGAGAAACATTTTCTAACCTTTACTATGGAATTTAACAAAATCTGAGTCTACACTGCAAGATGACAGCCATACAACGCCTAAACAGACTTGGGGATATTAATGTGGCTTTTCTTTATTTGTGCTTTTATGTAATTTTCAACTTGAAAAATACGATTATCTATTGACAAACAATAATATCTAAGAAATAACTGGCCAGGTGTGGTGGTTCATGCTTGTAATCCCAGCACTCTAGGAGGTGGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATATGTAAGTTACCAGGCCCAGTGGTGGGTGCCTGTAATCCCAGCTACCCGGGAGGCCAAGGCAGGAGAATCCCTTGAACCCAGTTGGTGGAGGTTGTAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCTCACCTCGAAAAAAAAAAAAAAATCTAACAAATAACTAAGAAAAATGTGGAGTTCATAATATACAAATAAACCATAACTTGCTAAAAGTTATTTTCCTAATAGTTCTTTCCCTGCTAGAGACATTTAAATTTGTCATTTGGGTTCAGACTTAAGAATATAACATACTTAAATGGTATGGATACTGAGATTTGGCTGTACTAGTAAAGACAACAAATAGAAGATACAGTAGTACATGATACAGTGGAATAAAGACTGAACTTGAAGTTAGAAGACCTGTGTCTGAATCCCAATTCTCTCATTCCTAGTTATGTGACCCCGGACAAGTAACCTAACCTCTTTGATTCTGTCTCATTATCTATAAAACAGAATAACAATAACCCACCTCAGGTAGTTGTTAGGGAAATAAACATGAGAATGTATGTCAATGTGCTTTCTCAACTGGACAGCACCATACAAAAACAAATTACTTTTAAATTACTAGTAGATAAGCAAGCACTTCACAATGACTTTCCAGCATGGGCTCAGCCAATAAGCAGAGTAAGATTTTGCTGGCTTACATTTGGGATCACTCTCCACTCCCAATCTTTTTTAAAGGCAATTAAGCCAGTAAATTAGATAATTAAGATTTGGTTGTTCGATTGGATTTTCTTTATAAATTCAGGGAGCTAAGAGGGACATAGAGATCCATTTAAATCATAACAGAAAATTACCAATGATTCCTTTGATTTATAGGAAGCACTGGAGTGCACATTATGTTCTTTTGTTGAGCCTTTCATTACAGAAATAAAGGATTTGGGCAATAAATTCACTAAAATATGCAAGAGAAAATGAAATAATGACTTTTTGTAAACCATAGCGTTTATTACCATAGCAACAGATGCTGCAGTTGGCTGGTCCAGGAAATGGGCTGGCCTAGGGCTGAAGGGAGGGAGTGTTCCTTCTTCATTCTTTAATCTTTGTAGTGCCATTATTTGATTTGAAGAACCCATAGCTAAAAAGACTCGAAGACTCCCATTTTGGTGGCCTGAAAACACATCAATCACAGGCATGTAGCTGTCGACAGCAACAACTGGGTACTGGGCATCCAGCAGCAGGCGAGAAATCTTAGCATCTCTAGAGGGGGAGAAATTGTGAATAAGCAAATAACAAGCATCAATCATGTCATAGAGTTATTTCTTTCTTGACTCATTTTTTCAGTTTGTTAAAAATAGATTTGCAACTGGAAAAGTAATAGTGGTTTTAAAAAATGTGTGCATCTGTCAGTAACCTACCAAATAAAAATTACCAGGCAGAGAAGTTCAAAATGTAGCAATTTGAAGGCAAGGAATGTGTCTGATATGTCTCTGTAGCATTATGGACCCAAGTCCAGTGTCTGTGATTTGAACAGTATCTCATGGAGCTTTGCTAAACTGCATTATTTTAAAGGGAGGAAGTGTGGTCTACTAGGAAGAATGTGGACTTTGGTGTCTGACAGATAAGATTTGGAAAATATTGCCAATATCTGCCATCTACTAAGTGCTTAGTATGTGCTAGGCATTTTATAGTATTTCTAATCCTTTTAACGCTGCAAAGGTTGGTATTATCCACTATTAATGGATGAGAAAAGCCAAATTTAAAGAGGTTAAGTAACTTAGCTAAGGATACACAACTAGTAGGAGGTTAAGTTGGGATTCAAGCTCTGATAAATGATTTATAATGCCATGCTGAATCTTAGCTCTGCCACTTATTTGCTGTGTGACTCAAGCAATTCATTTAACATTTTTGAGTCTGTTTTGTCATTTTTAAAACGTACGCAATGAAAAAACTTCCATCAAAGAGTGGTTGTTAGGACTAAACTGAGATAACATACAAAATACCAACTATGATGCTTGGTACATGGAAGATGCCCAGTAACTGGTAGTTACTATTATTTTACACACTCTGAGCAAAGAATGAGATCTAATGGAATGAGAAGTGAAGTGGAAGAAGGGTAACACTAGACCAAACTAACATCATAATTTAAGAAAAAAAGGAAAACTAACAGCCTACAGCAGACAGTGGCATCCACGATTCCAGCAGGACTACCCAGCCTGGCCATGATTTCCAATGTTACTGTTGTAAGTATTAATACTCAGCTGTTCACAGAAGGCATATCCATGTATTTTCTCTCTAGATCTTCACGATTGTTCCACAAGAGAGATAGGTAATCTACTATCACCCTCATTTTACAGATGAGGAAAAGAAAGTCAGAGAGGTTAAGTGACTTCTGCAAGTTAAAGGACAAATTTCTTCATCTGTAATATAGGGATAATAACAATACTTTATAGGGTTATAGTAAGGTTCAAATGAGCTAATGCCCACAAAGGTGCTCTTTGTAAAATGTAAAACACAACATTTAAAACACAGAACTATGAGAAGGCTGCTAGGAAAGAGGTCAGTGCTAAAATAATTAAAAATCAGAATCTTGAGTCAAAATTAAAAAGGAACAGTTTAGGCTGGGCGCGGTGGCTCATGCCTGTAACACCATAACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTGTCCTGGTTAAGACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGAAGAATGGCGTGAACCCAGGAGATGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAACAACAAAAAAGAAACAGTTTGTATTGAGGAATGAAATAACCTTCAGGTTAATCAATACCCCACCTACGTGTTAAAAGTGAGGTGGAGCAATCAAATCTGAAGGTCTAAAAGATAATATTCACTATATAAAACTTGCAAATAGTTGAT | GTACTAATTACTATTTCAAATCAGTTGGGTATAACACCAGGACTGTCCAATAATGGTAAGGACTACTTTGGGAGGTAGTGAAGACACTGTTACTAAAGGTAATAACAACAAATAATCGTGTATTTATTGAGGATTTACTATGAACCAGGCACTATACCAAACAGCTCACCTTCATTAAGTGATTTAACATGCAGAGCTAGTAACAGTGGAACCAGGTTTAGACTCAACGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAGCTACTTAATTTGGCCTTATAGTATCACAGCAATTTGATATTCAGTTCTGCAAATGGTGAATTGGATGAGAGGCATGAGTAGAGGAGGAAAAACAATTGTTTTTATAGATATCTAATCCCACAGGTAAATCTTTCAAGGATTTCCTCTGTGCATGTAGTGAGAAACATTTTCTAACCTTTACTATGGAATTTAACAAAATCTGAGTCTACACTGCAAGATGACAGCCATACAACGCCTAAACAGACTTGGGGATATTAATGTGGCTTTTCTTTATTTGTGCTTTTATGTAATTTTCAACTTGAAAAATACGATTATCTATTGACAAACAATAATATCTAAGAAATAACTGGCCAGGTGTGGTGGTTCATGCTTGTAATCCCAGCACTCTAGGAGGTGGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATATGTAAGTTACCAGGCCCAGTGGTGGGTGCCTGTAATCCCAGCTACCCGGGAGGCCAAGGCAGGAGAATCCCTTGAACCCAGTTGGTGGAGGTTGTAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCTCACCTCGAAAAAAAAAAAAAAATCTAACAAATAACTAAGAAAAATGTGGAGTTCATAATATACAAATAAACCATAACTTGCTAAAAGTTATTTTCCTAATAGTTCTTTCCCTGCTAGAGACATTTAAATTTGTCATTTGGGTTCAGACTTAAGAATATAACATACTTAAATGGTATGGATACTGAGATTTGGCTGTACTAGTAAAGACAACAAATAGAAGATACAGTAGTACATGATACAGTGGAATAAAGACTGAACTTGAAGTTAGAAGACCTGTGTCTGAATCCCAATTCTCTCATTCCTAGTTATGTGACCCCGGACAAGTAACCTAACCTCTTTGATTCTGTCTCATTATCTATAAAACAGAATAACAATAACCCACCTCAGGTAGTTGTTAGGGAAATAAACATGAGAATGTATGTCAATGTGCTTTCTCAACTGGACAGCACCATACAAAAACAAATTACTTTTAAATTACTAGTAGATAAGCAAGCACTTCACAATGACTTTCCAGCATGGGCTCAGCCAATAAGCAGAGTAAGATTTTGCTGGCTTACATTTGGGATCACTCTCCACTCCCAATCTTTTTTAAAGGCAATTAAGCCAGTAAATTAGATAATTAAGATTTGGTTGTTCGATTGGATTTTCTTTATAAATTCAGGGAGCTAAGAGGGACATAGAGATCCATTTAAATCATAACAGAAAATTACCAATGATTCCTTTGATTTATAGGAAGCACTGGAGTGCACATTATGTTCTTTTGTTGAGCCTTTCATTACAGAAATAAAGGATTTGGGCAATAAATTCACTAAAATATGCAAGAGAAAATGAAATAATGACTTTTTGTAAACCATAGCGTTTATTACCATAGCATGTAAACCATGCTGCAGTTGGCTGGTCCAGGAAATGGGCTGGCCTAGGGCTGAAGGGAGGGAGTGTTCCTTCTTCATTCTTTAATCTTTGTAGTGCCATTATTTGATTTGAAGAACCCATAGCTAAAAAGACTCGAAGACTCCCATTTTGGTGGCCTGAAAACACATCAATCACAGGCATGTAGCTGTCGACAGCAACAACTGGGTACTGGGCATCCAGCAGCAGGCGAGAAATCTTAGCATCTCTAGAGGGGGAGAAATTGTGAATAAGCAAATAACAAGCATCAATCATGTCATAGAGTTATTTCTTTCTTGACTCATTTTTTCAGTTTGTTAAAAATAGATTTGCAACTGGAAAAGTAATAGTGGTTTTAAAAAATGTGTGCATCTGTCAGTAACCTACCAAATAAAAATTACCAGGCAGAGAAGTTCAAAATGTAGCAATTTGAAGGCAAGGAATGTGTCTGATATGTCTCTGTAGCATTATGGACCCAAGTCCAGTGTCTGTGATTTGAACAGTATCTCATGGAGCTTTGCTAAACTGCATTATTTTAAAGGGAGGAAGTGTGGTCTACTAGGAAGAATGTGGACTTTGGTGTCTGACAGATAAGATTTGGAAAATATTGCCAATATCTGCCATCTACTAAGTGCTTAGTATGTGCTAGGCATTTTATAGTATTTCTAATCCTTTTAACGCTGCAAAGGTTGGTATTATCCACTATTAATGGATGAGAAAAGCCAAATTTAAAGAGGTTAAGTAACTTAGCTAAGGATACACAACTAGTAGGAGGTTAAGTTGGGATTCAAGCTCTGATAAATGATTTATAATGCCATGCTGAATCTTAGCTCTGCCACTTATTTGCTGTGTGACTCAAGCAATTCATTTAACATTTTTGAGTCTGTTTTGTCATTTTTAAAACGTACGCAATGAAAAAACTTCCATCAAAGAGTGGTTGTTAGGACTAAACTGAGATAACATACAAAATACCAACTATGATGCTTGGTACATGGAAGATGCCCAGTAACTGGTAGTTACTATTATTTTACACACTCTGAGCAAAGAATGAGATCTAATGGAATGAGAAGTGAAGTGGAAGAAGGGTAACACTAGACCAAACTAACATCATAATTTAAGAAAAAAAGGAAAACTAACAGCCTACAGCAGACAGTGGCATCCACGATTCCAGCAGGACTACCCAGCCTGGCCATGATTTCCAATGTTACTGTTGTAAGTATTAATACTCAGCTGTTCACAGAAGGCATATCCATGTATTTTCTCTCTAGATCTTCACGATTGTTCCACAAGAGAGATAGGTAATCTACTATCACCCTCATTTTACAGATGAGGAAAAGAAAGTCAGAGAGGTTAAGTGACTTCTGCAAGTTAAAGGACAAATTTCTTCATCTGTAATATAGGGATAATAACAATACTTTATAGGGTTATAGTAAGGTTCAAATGAGCTAATGCCCACAAAGGTGCTCTTTGTAAAATGTAAAACACAACATTTAAAACACAGAACTATGAGAAGGCTGCTAGGAAAGAGGTCAGTGCTAAAATAATTAAAAATCAGAATCTTGAGTCAAAATTAAAAAGGAACAGTTTAGGCTGGGCGCGGTGGCTCATGCCTGTAACACCATAACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTGTCCTGGTTAAGACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGAAGAATGGCGTGAACCCAGGAGATGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAACAACAAAAAAGAAACAGTTTGTATTGAGGAATGAAATAACCTTCAGGTTAATCAATACCCCACCTACGTGTTAAAAGTGAGGTGGAGCAATCAAATCTGAAGGTCTAAAAGATAATATTCACTATATAAAACTTGCAAATAGT | pathogenic | 180,834 |
Clinically, how would you classify the variant at chromosome 11, position 74098243, gene C2CD3 (C2 domain containing 3 centriole elongation regulator): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Orofaciodigital_syndrome_type_14'] | CGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAGCTACTTAATTTGGCCTTATAGTATCACAGCAATTTGATATTCAGTTCTGCAAATGGTGAATTGGATGAGAGGCATGAGTAGAGGAGGAAAAACAATTGTTTTTATAGATATCTAATCCCACAGGTAAATCTTTCAAGGATTTCCTCTGTGCATGTAGTGAGAAACATTTTCTAACCTTTACTATGGAATTTAACAAAATCTGAGTCTACACTGCAAGATGACAGCCATACAACGCCTAAACAGACTTGGGGATATTAATGTGGCTTTTCTTTATTTGTGCTTTTATGTAATTTTCAACTTGAAAAATACGATTATCTATTGACAAACAATAATATCTAAGAAATAACTGGCCAGGTGTGGTGGTTCATGCTTGTAATCCCAGCACTCTAGGAGGTGGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATATGTAAGTTACCAGGCCCAGTGGTGGGTGCCTGTAATCCCAGCTACCCGGGAGGCCAAGGCAGGAGAATCCCTTGAACCCAGTTGGTGGAGGTTGTAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCTCACCTCGAAAAAAAAAAAAAAATCTAACAAATAACTAAGAAAAATGTGGAGTTCATAATATACAAATAAACCATAACTTGCTAAAAGTTATTTTCCTAATAGTTCTTTCCCTGCTAGAGACATTTAAATTTGTCATTTGGGTTCAGACTTAAGAATATAACATACTTAAATGGTATGGATACTGAGATTTGGCTGTACTAGTAAAGACAACAAATAGAAGATACAGTAGTACATGATACAGTGGAATAAAGACTGAACTTGAAGTTAGAAGACCTGTGTCTGAATCCCAATTCTCTCATTCCTAGTTATGTGACCCCGGACAAGTAACCTAACCTCTTTGATTCTGTCTCATTATCTATAAAACAGAATAACAATAACCCACCTCAGGTAGTTGTTAGGGAAATAAACATGAGAATGTATGTCAATGTGCTTTCTCAACTGGACAGCACCATACAAAAACAAATTACTTTTAAATTACTAGTAGATAAGCAAGCACTTCACAATGACTTTCCAGCATGGGCTCAGCCAATAAGCAGAGTAAGATTTTGCTGGCTTACATTTGGGATCACTCTCCACTCCCAATCTTTTTTAAAGGCAATTAAGCCAGTAAATTAGATAATTAAGATTTGGTTGTTCGATTGGATTTTCTTTATAAATTCAGGGAGCTAAGAGGGACATAGAGATCCATTTAAATCATAACAGAAAATTACCAATGATTCCTTTGATTTATAGGAAGCACTGGAGTGCACATTATGTTCTTTTGTTGAGCCTTTCATTACAGAAATAAAGGATTTGGGCAATAAATTCACTAAAATATGCAAGAGAAAATGAAATAATGACTTTTTGTAAACCATAGCGTTTATTACCATAGCAACAGATGCTGCAGTTGGCTGGTCCAGGAAATGGGCTGGCCTAGGGCTGAAGGGAGGGAGTGTTCCTTCTTCATTCTTTAATCTTTGTAGTGCCATTATTTGATTTGAAGAACCCATAGCTAAAAAGACTCGAAGACTCCCATTTTGGTGGCCTGAAAACACATCAATCACAGGCATGTAGCTGTCGACAGCAACAACTGGGTACTGGGCATCCAGCAGCAGGCGAGAAATCTTAGCATCTCTAGAGGGGGAGAAATTGTGAATAAGCAAATAACAAGCATCAATCATGTCATAGAGTTATTTCTTTCTTGACTCATTTTTTCAGTTTGTTAAAAATAGATTTGCAACTGGAAAAGTAATAGTGGTTTTAAAAAATGTGTGCATCTGTCAGTAACCTACCAAATAAAAATTACCAGGCAGAGAAGTTCAAAATGTAGCAATTTGAAGGCAAGGAATGTGTCTGATATGTCTCTGTAGCATTATGGACCCAAGTCCAGTGTCTGTGATTTGAACAGTATCTCATGGAGCTTTGCTAAACTGCATTATTTTAAAGGGAGGAAGTGTGGTCTACTAGGAAGAATGTGGACTTTGGTGTCTGACAGATAAGATTTGGAAAATATTGCCAATATCTGCCATCTACTAAGTGCTTAGTATGTGCTAGGCATTTTATAGTATTTCTAATCCTTTTAACGCTGCAAAGGTTGGTATTATCCACTATTAATGGATGAGAAAAGCCAAATTTAAAGAGGTTAAGTAACTTAGCTAAGGATACACAACTAGTAGGAGGTTAAGTTGGGATTCAAGCTCTGATAAATGATTTATAATGCCATGCTGAATCTTAGCTCTGCCACTTATTTGCTGTGTGACTCAAGCAATTCATTTAACATTTTTGAGTCTGTTTTGTCATTTTTAAAACGTACGCAATGAAAAAACTTCCATCAAAGAGTGGTTGTTAGGACTAAACTGAGATAACATACAAAATACCAACTATGATGCTTGGTACATGGAAGATGCCCAGTAACTGGTAGTTACTATTATTTTACACACTCTGAGCAAAGAATGAGATCTAATGGAATGAGAAGTGAAGTGGAAGAAGGGTAACACTAGACCAAACTAACATCATAATTTAAGAAAAAAAGGAAAACTAACAGCCTACAGCAGACAGTGGCATCCACGATTCCAGCAGGACTACCCAGCCTGGCCATGATTTCCAATGTTACTGTTGTAAGTATTAATACTCAGCTGTTCACAGAAGGCATATCCATGTATTTTCTCTCTAGATCTTCACGATTGTTCCACAAGAGAGATAGGTAATCTACTATCACCCTCATTTTACAGATGAGGAAAAGAAAGTCAGAGAGGTTAAGTGACTTCTGCAAGTTAAAGGACAAATTTCTTCATCTGTAATATAGGGATAATAACAATACTTTATAGGGTTATAGTAAGGTTCAAATGAGCTAATGCCCACAAAGGTGCTCTTTGTAAAATGTAAAACACAACATTTAAAACACAGAACTATGAGAAGGCTGCTAGGAAAGAGGTCAGTGCTAAAATAATTAAAAATCAGAATCTTGAGTCAAAATTAAAAAGGAACAGTTTAGGCTGGGCGCGGTGGCTCATGCCTGTAACACCATAACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTGTCCTGGTTAAGACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGAAGAATGGCGTGAACCCAGGAGATGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAACAACAAAAAAGAAACAGTTTGTATTGAGGAATGAAATAACCTTCAGGTTAATCAATACCCCACCTACGTGTTAAAAGTGAGGTGGAGCAATCAAATCTGAAGGTCTAAAAGATAATATTCACTATATAAAACTTGCAAATAGTTGATGTGAACAATACTGAAGTTCCGTGACAGAATGGTAAACCACCTTTTGAGAGGTGGTAACTTTTGACAATAGAGTTTTTTGGTGAAGTGTGGACTCCAGAGCCATGCTATCTTGGGTCCTAACCCTTCACTTTATAATGTATGTGACAAGTAATTTAACTTCTCTGAATCTCTGTTAACTCATCTGTACAAAAAAGCAAATAGAAGTACCTGCCTCAGAGGGTTTGTCA | CGTAGTCTGACTCCAGAGTCAGTGTTCTTTATCCCTATTCTATACAGCAGATCTTAGAGAATGAATTATTCAGGAAAATTCAAAGGGGGAATTCAGCATTCAGAAAAGAGTTGAGACTATATGATATACATGTGTTTAACATTTTAACTACTAATCCAAAAAATCTAGAACAGAGACTGTATTAGGTCTCTGCTTTGAAATCTGAAAGCATATTTTAGCAATACCTGCTCAAAAATTTTCCTTAGAAAAACAGGAAACTTGCAATTTGATTCCCTCGGGCAAAAAAAATTGAAAAAAAAAATCTCTCAGAGTCACAACAGCTACTTAATTTGGCCTTATAGTATCACAGCAATTTGATATTCAGTTCTGCAAATGGTGAATTGGATGAGAGGCATGAGTAGAGGAGGAAAAACAATTGTTTTTATAGATATCTAATCCCACAGGTAAATCTTTCAAGGATTTCCTCTGTGCATGTAGTGAGAAACATTTTCTAACCTTTACTATGGAATTTAACAAAATCTGAGTCTACACTGCAAGATGACAGCCATACAACGCCTAAACAGACTTGGGGATATTAATGTGGCTTTTCTTTATTTGTGCTTTTATGTAATTTTCAACTTGAAAAATACGATTATCTATTGACAAACAATAATATCTAAGAAATAACTGGCCAGGTGTGGTGGTTCATGCTTGTAATCCCAGCACTCTAGGAGGTGGAGGTGGGTGGATCACTTGAGGTTAGGAGTTCGAGACCAGCCTGGCCTGGGCAATATGGTGAAATCCCATCTCTACTAAAAATATGTAAGTTACCAGGCCCAGTGGTGGGTGCCTGTAATCCCAGCTACCCGGGAGGCCAAGGCAGGAGAATCCCTTGAACCCAGTTGGTGGAGGTTGTAGTGAGCTGAGATGGCACCATTGCACTCCAGCCTGGGCAACAGAGCAAGACCTCACCTCGAAAAAAAAAAAAAAATCTAACAAATAACTAAGAAAAATGTGGAGTTCATAATATACAAATAAACCATAACTTGCTAAAAGTTATTTTCCTAATAGTTCTTTCCCTGCTAGAGACATTTAAATTTGTCATTTGGGTTCAGACTTAAGAATATAACATACTTAAATGGTATGGATACTGAGATTTGGCTGTACTAGTAAAGACAACAAATAGAAGATACAGTAGTACATGATACAGTGGAATAAAGACTGAACTTGAAGTTAGAAGACCTGTGTCTGAATCCCAATTCTCTCATTCCTAGTTATGTGACCCCGGACAAGTAACCTAACCTCTTTGATTCTGTCTCATTATCTATAAAACAGAATAACAATAACCCACCTCAGGTAGTTGTTAGGGAAATAAACATGAGAATGTATGTCAATGTGCTTTCTCAACTGGACAGCACCATACAAAAACAAATTACTTTTAAATTACTAGTAGATAAGCAAGCACTTCACAATGACTTTCCAGCATGGGCTCAGCCAATAAGCAGAGTAAGATTTTGCTGGCTTACATTTGGGATCACTCTCCACTCCCAATCTTTTTTAAAGGCAATTAAGCCAGTAAATTAGATAATTAAGATTTGGTTGTTCGATTGGATTTTCTTTATAAATTCAGGGAGCTAAGAGGGACATAGAGATCCATTTAAATCATAACAGAAAATTACCAATGATTCCTTTGATTTATAGGAAGCACTGGAGTGCACATTATGTTCTTTTGTTGAGCCTTTCATTACAGAAATAAAGGATTTGGGCAATAAATTCACTAAAATATGCAAGAGAAAATGAAATAATGACTTTTTGTAAACCATAGCGTTTATTACCATAGCAACAGATGCTGCAGTTGGCTGGTCCAGGAAATGGGCTGGCCTAGGGCTGAAGGGAGGGAGTGTTCCTTCTTCATTCTTTAATCTTTGTAGTGCCATTATTTGATTTGAAGAACCCATAGCTAAAAAGACTCGAAGACTCCCATTTTGGTGGCCTGAAAACACATCAATCACAGGCATGTAGCTGTCGACAGCAACAACTGGGTACTGGGCATCCAGCAGCAGGCGAGAAATCTCTAGAGGGGGAGAAATTGTGAATAAGCAAATAACAAGCATCAATCATGTCATAGAGTTATTTCTTTCTTGACTCATTTTTTCAGTTTGTTAAAAATAGATTTGCAACTGGAAAAGTAATAGTGGTTTTAAAAAATGTGTGCATCTGTCAGTAACCTACCAAATAAAAATTACCAGGCAGAGAAGTTCAAAATGTAGCAATTTGAAGGCAAGGAATGTGTCTGATATGTCTCTGTAGCATTATGGACCCAAGTCCAGTGTCTGTGATTTGAACAGTATCTCATGGAGCTTTGCTAAACTGCATTATTTTAAAGGGAGGAAGTGTGGTCTACTAGGAAGAATGTGGACTTTGGTGTCTGACAGATAAGATTTGGAAAATATTGCCAATATCTGCCATCTACTAAGTGCTTAGTATGTGCTAGGCATTTTATAGTATTTCTAATCCTTTTAACGCTGCAAAGGTTGGTATTATCCACTATTAATGGATGAGAAAAGCCAAATTTAAAGAGGTTAAGTAACTTAGCTAAGGATACACAACTAGTAGGAGGTTAAGTTGGGATTCAAGCTCTGATAAATGATTTATAATGCCATGCTGAATCTTAGCTCTGCCACTTATTTGCTGTGTGACTCAAGCAATTCATTTAACATTTTTGAGTCTGTTTTGTCATTTTTAAAACGTACGCAATGAAAAAACTTCCATCAAAGAGTGGTTGTTAGGACTAAACTGAGATAACATACAAAATACCAACTATGATGCTTGGTACATGGAAGATGCCCAGTAACTGGTAGTTACTATTATTTTACACACTCTGAGCAAAGAATGAGATCTAATGGAATGAGAAGTGAAGTGGAAGAAGGGTAACACTAGACCAAACTAACATCATAATTTAAGAAAAAAAGGAAAACTAACAGCCTACAGCAGACAGTGGCATCCACGATTCCAGCAGGACTACCCAGCCTGGCCATGATTTCCAATGTTACTGTTGTAAGTATTAATACTCAGCTGTTCACAGAAGGCATATCCATGTATTTTCTCTCTAGATCTTCACGATTGTTCCACAAGAGAGATAGGTAATCTACTATCACCCTCATTTTACAGATGAGGAAAAGAAAGTCAGAGAGGTTAAGTGACTTCTGCAAGTTAAAGGACAAATTTCTTCATCTGTAATATAGGGATAATAACAATACTTTATAGGGTTATAGTAAGGTTCAAATGAGCTAATGCCCACAAAGGTGCTCTTTGTAAAATGTAAAACACAACATTTAAAACACAGAACTATGAGAAGGCTGCTAGGAAAGAGGTCAGTGCTAAAATAATTAAAAATCAGAATCTTGAGTCAAAATTAAAAAGGAACAGTTTAGGCTGGGCGCGGTGGCTCATGCCTGTAACACCATAACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACTGTCCTGGTTAAGACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGAAGAATGGCGTGAACCCAGGAGATGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAACAACAAAAAAGAAACAGTTTGTATTGAGGAATGAAATAACCTTCAGGTTAATCAATACCCCACCTACGTGTTAAAAGTGAGGTGGAGCAATCAAATCTGAAGGTCTAAAAGATAATATTCACTATATAAAACTTGCAAATAGTTGATGTGAACAATACTGAAGTTCCGTGACAGAATGGTAAACCACCTTTTGAGAGGTGGTAACTTTTGACAATAGAGTTTTTTGGTGAAGTGTGGACTCCAGAGCCATGCTATCTTGGGTCCTAACCCTTCACTTTATAATGTATGTGACAAGTAATTTAACTTCTCTGAATCTCTGTTAACTCATCTGTACAAAAAAGCAAATAGAAGTACCTGCCTCAGAGGGTTTGTCANNNNNNNN | pathogenic | 180,837 |
Variant in gene C2CD3 (C2 domain containing 3 centriole elongation regulator), located at chromosome 11 position 74133518: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Orofaciodigital_syndrome_type_14'] | TTTTTATATGTTGCTGGGTTCGGTTTGCAAGTATTTTCTGGAGTATGTTGTGTTGTTACTTCCCTGTAATAGAAATCTAAACTTCAGATCAAACTAATTGGAGGTTTTGTTTTTCTTTCTTTTTTTTTTTGAGATGGAGTCTTACTCCTTCTATCATCCAGGCCAGAGTGCAGTAGCATGTTCTCGGCTCATTGCAACCTCTGCCTCCAGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCACCACCACGCCTGGCTCATTTTTGTACTGTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCTGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTTTGGAGCCTTTGAAACACATGTTCTCCCATAACCTTTAAAACTTCGGCACATATTGCTTTTAACCACTATGCCCTATTAACTTTCCAAGACATGAATGTAGACAGTATCTTTTATTCAAGAGACAATAAATAGATGAGTCTGGTTGGAGGGCACATGTTATTCACAATGTTAACATAAACAGCTACCAACAGTAAAAATACTATGTGTTGGCCAGGCACTGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAAGCGAGTGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGACAACAAGGTGAAACCCCGTCGCTACTAAAAATACAAAAATTAGCCAAAAGTGGTACTGCATGCCTGCAGAACCAGCTACTTGGGAGGCAGAGGCAGGATAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCTGAGACTGTACCATGGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAACAAAAAACAAAAAAAAACCCCGCAAAATATTATGTGTCAAGCATTGTGTTACTCCTCTATATACATCATTTTTAATCCTTACAACAATTTTGCAAAGTTAGGTACAATTCCAATTTTACCAATGCCTCTGAAGTTCAGAGATACCTGCTTAAGGCCACAAAGCTAATTAGAGATGAACCTCGAATTTCCACTTGTATCTGTTTAAAATCCATGCTCTTTTCATCATACCATGTTAACACTGGTATTGGGGAAAGAGTTGGGAGATAAGAACGGTAAGGTAGAATGGGATCATTCTGTAAGTGAAGCCAAAAGTAAAGGGCTAAAGTATGGAGTTTTATTTAGTAGGCAATAGTGATAGTTTAAGGAATAGGGAAGGGCTTGGTTAGTCTAAGGACATGTTACTTTAGGAAGATGAATCTGATAACAATGCATACTATGAATTGGAGGAAGAGTTTAAAAGGAAGAAAGCCAGTTAATAGTGCTTACCTGCCTAATAGCAGCTGTATAGCTCTGGTATCAGCTTTTGTGTCATGTCTCCAAAATGTATTCTCAGTTGAAGGGAGGAGGTGATCTTCAATGTGGTCTTTAAACCGATTCCTAGAAAAGGCTCTGATCCTAAGGTGTGGAAAAATACTTTCTCACTGAGTGGCTAACAGATGGAAAAAATCTAAATCATAATCACTTCGTACATGCAGCTGGTCTGACTCAGAAAATTTAACATACTTTAGACTTAACTGCCTTAAATAAAACTTTACACTTTGCAAAGCTCTTTCCTACAGTAGAATCCCATCTCATTTCTGTGAGGTAGGGAGAGAATATCCCCATTTTACATCCAAGGATACCAGTTCGGAGACAGTAAAGAATTTACCCATTTACACATGCTGCCAGTACCAGTGCTAGGATAAGATTTTTAGTATCTTAACTCCTAGTGTAGGCTTCTTTCCCACCACATCAGGAATTATTTGATAAGCATTTCCAAGATTACCTAGTCCATAACTTGACAAAAAACACAGGTTAACAACTATTAAGAAATGAACTGTTAAGGTTCTGTCTATCCTGTAACTTACTGTGTTGATGCTCTAAGAGAATCTTCATTAATAGGAGGATGAACTTGGTCCAACAACATGCTGGTCTCTGGGCTTGATTTCATTGCAGAAATCACCATGGCATTACGCAGTTTATTGCCTTGTTCTAACAGAGCTGAAGAGGGTAAATGCAGAAAACAGAAAAATCCAAAATGCAGCAGAAACATTTGGAATATTCAGTGCATTTCCTTCTATCAGAGGACTCACTAGTGTGTACTGTAATAGTTTGCTCATCTGCCTTCCCCATTAGCTTGAGAATTCCTTGAGGACATTTACGCAAAAGAGATGTTTACTGAGTTTCTACTGTGCACTGTTTTAGATGCTGGCATTGTAACAATGAATGAAGTCTCCATTCCGGAGACTCACCTCTTGTGGGGGTTGTTATATCCATATACTGGCTCTTCCAACTGGTGCTTGTACCTAATAAGGTTAGTAATGTTTATATATTGTTTTTGTATCCAGATATCAAATTTATACTTCTATGGATGAAGAAAAGAGTGCTAAAAAGCTTCCATGACTCACACAGCAGGTTAATGGAAAAGTCAGGATAAAACCTGACTTTTCCGACTTTCTGATAGGTAAAATTTACCCCATCCCTTAAGGGGTCCCACAACAATAGCAGCAACACAAATCAGAGAATACACTTATGGAATGTTTACCACATGCGAGGCACTATTCTAAGTATTTTAACGTGTATTACTCATTTAATCCTCCCAACAGTCCTCTGAGATATGTACTATGACTACTTTTGTTTTCCAGATAAAAAATTGAGGCAGAGAGTAGGTAACTTGACCAAGTTGTACACGCAATACATCTATAACCAGATGATTCCACATCCTATGCTTTTAATTGCTATACTATCTATGACCCTACTTAGTTCTTAGGCTTCTTTTTAAAAGCTGAGTACTAGCTGGGCATGGCAGCATGTGCCCATGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGACTGCTTAAGTCAAGAAGACTGCTTGAGTCTAGGAGTTTGAGGTGATAGTGTGCTATAACCACACTTATGAATAGTCACAGTGTTCCAGCCTGGGCAACATAGTGAGATTCTGTTTCTAAATAAAAACAAATAAAATAAAAAAGCTCAGGCCCAATAGTATTGTTCCAACAGATACAGGAGGTATTATTATTTTCTTGAGGTTCCACAGGTGCTTAGAAAGTGCCCAACTCCTAGTCTAATTTTATAATTTCTAAAAATAAAATATGATGGTTAGGCCAAGAAAAAAAACAAGTCAAATATATCCATAGTCTTACTCATTATTTACATATGTTTAGAGACAGAGTCTTGCTCTGTTGCCCTAGCTGGAATGCAGTGGTACAATCAAGTTCGCTACAGCCTCGAACTTCCAGGCTCAAGCAATCCTCCCATCTCAGTCTCCCAAGTAGCTAGACTATAGGTGCATACCACCATGCCTGGCTTATTTTTTATTTTTTTGTACAGATGGTATCTTGCTATGTTGCCCAGGCTGGTCTTGAACTATTGGCCTCAAGCTATCTTCCTGCCCCGGCCTCCCAAAGTCCATAAACATCAAAACATCTAATATTTGTTACTATAAAGAGGTCAAAATATAGCTTAAAAACTTAAAAAAAATCCAAAATCTTAAATATCATATGTTCAATGTGTGATGTGGCAATACAACTAAACTAAAAAATAAAGCTCACTCACTGTGATAGGCAGAATTCTAAGATGGCTACCCCAAGATCCCCATTGCCTCATATACTCATACTTCGTCCTAGTGATTCAAACACTTGTCTAGGTATTACCATGAAAGGATTTTGCAGATGTAATTATTTAAAACTTTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTTACCCAGGCTAGAGTGCACTGGCATGATCATGACTCACTGGAGCCTCGACCTCCCAGGGTCAAGTGATCCTCCCACCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCTTGCCCGGACTTGCAGATGTAATTAATGCTTACCTTAAGACAGGAAGATTATCTTGGTAGGCAGAATCTAATCATATTAACCTTTTAAAGCAAATTTTTCTCTGGCTGGTTAAAGGATATGATAGTCAGAGATGTGAAGTATG | TTTTTATATGTTGCTGGGTTCGGTTTGCAAGTATTTTCTGGAGTATGTTGTGTTGTTACTTCCCTGTAATAGAAATCTAAACTTCAGATCAAACTAATTGGAGGTTTTGTTTTTCTTTCTTTTTTTTTTTGAGATGGAGTCTTACTCCTTCTATCATCCAGGCCAGAGTGCAGTAGCATGTTCTCGGCTCATTGCAACCTCTGCCTCCAGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCACCACCACGCCTGGCTCATTTTTGTACTGTTAGTAGAGACAGGGTTTCACCCTGTTGGCCAGGCTGGTCTCGAACTCCTGAACTCTGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCTTTTGGAGCCTTTGAAACACATGTTCTCCCATAACCTTTAAAACTTCGGCACATATTGCTTTTAACCACTATGCCCTATTAACTTTCCAAGACATGAATGTAGACAGTATCTTTTATTCAAGAGACAATAAATAGATGAGTCTGGTTGGAGGGCACATGTTATTCACAATGTTAACATAAACAGCTACCAACAGTAAAAATACTATGTGTTGGCCAGGCACTGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAAGCGAGTGGATCACTTGAGGTCAAGAGTTCGAGACCAGCCTGGACAACAAGGTGAAACCCCGTCGCTACTAAAAATACAAAAATTAGCCAAAAGTGGTACTGCATGCCTGCAGAACCAGCTACTTGGGAGGCAGAGGCAGGATAATTGCTTGAACCCAGGAGGAGGAGGTTGCAGTGAGCTGAGACTGTACCATGGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAACAAAAAACAAAAAAAAACCCCGCAAAATATTATGTGTCAAGCATTGTGTTACTCCTCTATATACATCATTTTTAATCCTTACAACAATTTTGCAAAGTTAGGTACAATTCCAATTTTACCAATGCCTCTGAAGTTCAGAGATACCTGCTTAAGGCCACAAAGCTAATTAGAGATGAACCTCGAATTTCCACTTGTATCTGTTTAAAATCCATGCTCTTTTCATCATACCATGTTAACACTGGTATTGGGGAAAGAGTTGGGAGATAAGAACGGTAAGGTAGAATGGGATCATTCTGTAAGTGAAGCCAAAAGTAAAGGGCTAAAGTATGGAGTTTTATTTAGTAGGCAATAGTGATAGTTTAAGGAATAGGGAAGGGCTTGGTTAGTCTAAGGACATGTTACTTTAGGAAGATGAATCTGATAACAATGCATACTATGAATTGGAGGAAGAGTTTAAAAGGAAGAAAGCCAGTTAATAGTGCTTACCTGCCTAATAGCAGCTGTATAGCTCTGGTATCAGCTTTTGTGTCATGTCTCCAAAATGTATTCTCAGTTGAAGGGAGGAGGTGATCTTCAATGTGGTCTTTAAACCGATTCCTAGAAAAGGCTCTGATCCTAAGGTGTGGAAAAATACTTTCTCACTGAGTGGCTAACAGATGGAAAAAATCTAAATCATAATCACTTCGTACATGCAGCTGGTCTGACTCAGAAAATTTAACATACTTTAGACTTAACTGCCTTAAATAAAACTTTACACTTTGCAAAGCTCTTTCCTACAGTAGAATCCCATCTCATTTCTGTGAGGTAGGGAGAGAATATCCCCATTTTACATCCAAGGATACCAGTTCGGAGACAGTAAAGAATTTACCCATTTACACATGCTGCCAGTACCAGTGCTAGGATAAGATTTTTAGTATCTTAACTCCTAGTGTAGGCTTCTTTCCCACCACATCAGGAATTATTTGATAAGCATTTCCAAGATTACCTAGTCCATAACTTGACAAAAAACACAGGTTAACAACTATTAAGAAATGAACTGTTAAGGTTCTGTCTATCCTGTAACTTACTGTGTTGATGCTCTAAGAGAATCTTCATTAATAGGAGGATGAACTTGGTCCAACAACATGCTGGTCTCTGGGCTTGATTTCATTGCAGAAATCACCCATGGCATTACGCAGTTTATTGCCTTGTTCTAACAGAGCTGAAGAGGGTAAATGCAGAAAACAGAAAAATCCAAAATGCAGCAGAAACATTTGGAATATTCAGTGCATTTCCTTCTATCAGAGGACTCACTAGTGTGTACTGTAATAGTTTGCTCATCTGCCTTCCCCATTAGCTTGAGAATTCCTTGAGGACATTTACGCAAAAGAGATGTTTACTGAGTTTCTACTGTGCACTGTTTTAGATGCTGGCATTGTAACAATGAATGAAGTCTCCATTCCGGAGACTCACCTCTTGTGGGGGTTGTTATATCCATATACTGGCTCTTCCAACTGGTGCTTGTACCTAATAAGGTTAGTAATGTTTATATATTGTTTTTGTATCCAGATATCAAATTTATACTTCTATGGATGAAGAAAAGAGTGCTAAAAAGCTTCCATGACTCACACAGCAGGTTAATGGAAAAGTCAGGATAAAACCTGACTTTTCCGACTTTCTGATAGGTAAAATTTACCCCATCCCTTAAGGGGTCCCACAACAATAGCAGCAACACAAATCAGAGAATACACTTATGGAATGTTTACCACATGCGAGGCACTATTCTAAGTATTTTAACGTGTATTACTCATTTAATCCTCCCAACAGTCCTCTGAGATATGTACTATGACTACTTTTGTTTTCCAGATAAAAAATTGAGGCAGAGAGTAGGTAACTTGACCAAGTTGTACACGCAATACATCTATAACCAGATGATTCCACATCCTATGCTTTTAATTGCTATACTATCTATGACCCTACTTAGTTCTTAGGCTTCTTTTTAAAAGCTGAGTACTAGCTGGGCATGGCAGCATGTGCCCATGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGGACTGCTTAAGTCAAGAAGACTGCTTGAGTCTAGGAGTTTGAGGTGATAGTGTGCTATAACCACACTTATGAATAGTCACAGTGTTCCAGCCTGGGCAACATAGTGAGATTCTGTTTCTAAATAAAAACAAATAAAATAAAAAAGCTCAGGCCCAATAGTATTGTTCCAACAGATACAGGAGGTATTATTATTTTCTTGAGGTTCCACAGGTGCTTAGAAAGTGCCCAACTCCTAGTCTAATTTTATAATTTCTAAAAATAAAATATGATGGTTAGGCCAAGAAAAAAAACAAGTCAAATATATCCATAGTCTTACTCATTATTTACATATGTTTAGAGACAGAGTCTTGCTCTGTTGCCCTAGCTGGAATGCAGTGGTACAATCAAGTTCGCTACAGCCTCGAACTTCCAGGCTCAAGCAATCCTCCCATCTCAGTCTCCCAAGTAGCTAGACTATAGGTGCATACCACCATGCCTGGCTTATTTTTTATTTTTTTGTACAGATGGTATCTTGCTATGTTGCCCAGGCTGGTCTTGAACTATTGGCCTCAAGCTATCTTCCTGCCCCGGCCTCCCAAAGTCCATAAACATCAAAACATCTAATATTTGTTACTATAAAGAGGTCAAAATATAGCTTAAAAACTTAAAAAAAATCCAAAATCTTAAATATCATATGTTCAATGTGTGATGTGGCAATACAACTAAACTAAAAAATAAAGCTCACTCACTGTGATAGGCAGAATTCTAAGATGGCTACCCCAAGATCCCCATTGCCTCATATACTCATACTTCGTCCTAGTGATTCAAACACTTGTCTAGGTATTACCATGAAAGGATTTTGCAGATGTAATTATTTAAAACTTTTTTTTTTTTTTTTGAGACAAGGTCTTACTCTGTTACCCAGGCTAGAGTGCACTGGCATGATCATGACTCACTGGAGCCTCGACCTCCCAGGGTCAAGTGATCCTCCCACCACAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAGCTTGCCCGGACTTGCAGATGTAATTAATGCTTACCTTAAGACAGGAAGATTATCTTGGTAGGCAGAATCTAATCATATTAACCTTTTAAAGCAAATTTTTCTCTGGCTGGTTAAAGGATATGATAGTCAGAGATGTGAAGTAT | pathogenic | 180,859 |
Does the chromosome 11 mutation at position 75566995 within gene SERPINH1 (serpin family H member 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCTCCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGATGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGAGACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTACTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTGTGTGGCAGTGGCTGTCAGATTGGAGGGCAGAATGGAATCTGATGTGGCTCCAGCTTCTTTGAAGGCTGAGTGCACATCTGGCCAGCTGCTGGTGATGGGGAAGGGGGTCACTGCTCTATTGAGCTATGTGTGACTCACCCTTTTCCCTAGTATCCTGTCCTTGTGCTATGTCAGGAAGCCTCCTCCCCAGCCCCACCGAGTCTTCAAAGGAGTTGGTCCCCCAGGAGCTTTTGTCCTGGGGATTTCCCATCCGCACTGGGAGCACTGTGGGTAGATGGGCATTCCAAGTTCCTGCCCAGACAGAAGCCATGGGCATGGAGACCTGGACCTTTCAGCTTGGAAAAGGGAGACTGAGGCTGAGTGGACACAGGACACACACACACACACTCTCAGGGTCACCCTTGGGGCAGCAAAGTGGAGCATCTTGGCTCCCCATTTAATGAGTGACCCAACTGGTGACTCATTAACATCCCAGAGCAGAATGAAAGGCATGGGGGCGGGGCAGCCCTCCGGCTCTGTCCCTCATCCCTTGCCCAGGCATCTGGGTTTCCTGCAGATTCTCAGCTCAGCTGCTGCTTTTTCTCACTGGAAAAGGGCTCCCAGGGCTATGTGAGATCAGGGCTGACCACTCTATAAACTGATGAGGACCCCAGGTCTGGCCAAGTGACCCTGTTTTACCTTCGTTCAGGAAGAGCTGAGGCCTACTGTGTACTAGGCACGGGAGATATAGTGGCAACCAGATTGGCTAGCTTTTCTGTCCTGGAGGCCACAGCCTACTTAGGAGCAGAAATAGTTATGAAATAAACACACAAATAAGTGGAAGTGTTGGCTGGCCGATGCAGGAAATCAATAAGGTGGTCTGGTGGTGACTTGCTGGGAATGCTTCTTTGAGTAGGGAGGTAACAGAGGCCTCTGAGAGGCTGGCAGCTCTGAGTCAAGTCTGGGATTCCTGGACTGTGGGCTCTCTTGCCCCCATCTCCAGGGGACTTGTGGCAGCCAGAGAGCTGAGGGTGGTTGTTGGGGAGGAAGGCCTTGGGCTTCAAGACCACCCTGTCTGTGCAATCCTCACAGGCCCACCGTGGTGCACGCAAACCACTTCCTGGCCATGCGCTCCCTCCTGCTTCTCAGCGCCTTCTGCCTCCTGGAGGCGGCCCTGGCCGCCGAGGTGAAGAAACCTGCAGCCGCAGCAGCTCCTGGCACTGCGGAGAAGTTGAGCCCCAAGGCGGCCACGCTTGCCGAGCGCAGCGCCGGCCTGGCCTTCAGCTTGTACCAGGCCATGGCCAAGGACCAGGCAGTGGAGAACATCCTGGTGTCACCCGTGGTGGTGGCCTCGTCGCTAGGGCTCGTGTCGCTGGGCGGCAAGGCGACCACGGCGTCGCAGGCCAAGGCAGTGCTGAGCGCCGAGCAGCTGCGCGACGAGGAGGTGCACGCCGGCCTGGGCGAGCTGCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAGCCGACTGTACGGACCCAGCTCAGTGAGCTTCGCTGATGACTTCGTGCGCAGCAGCAAGCAGCACTACAACTGCGAGCACTCCAAGATCAACTTCCGCGACAAGCGCAGCGCGCTGCAGTCCATCAACGAGTGGGCCGCGCAGACCACCGACGGCAAGCTGCCCGAGGTCACCAAGGACGTGGAGCGCACGGACGGCGCCCTGCTAGTCAACGCCATGTTCTTCAAGCGTGAGTCGGGGGCGCGTTCAGGGGTCCTCCTCCTCCTCCCAGGACCCCCTGCAAGAGTTAGGACGACATTCCGTGCGCTCCATTCTTCACTGCCTCTCATTTATGCTGTGACAACCCAGGGAGGCAGGACTGTCACTCAGCTTTTTGTACAGACTGGAAACTAGATTCAGAGACAGGTAGCAGCGTGTAAAGGAATGGTTCAGGGAGCGGAGGCCCCAGAGGGACTCCATGGAATGTATTCCGACCGAATTTCGTCAAAGTGCTCGTCCTTGTGTATCTTGGAATGAATAACATTTAATAATCCATTCTGCCTCAGTAGTGAGCTAGAGAAAGAACTCAAATCCTTTTTTTAAAATTATTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAGCCTTGGCCTCCGGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGTGCCTACCACCACACCCAGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTTTTGGTCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACCATGTGCGGCCAAGACCCAGAATCCTTAAAGCAACCTTGGGGGCAGGCAGTGTTACCTTCATTTCACAGTGAGGAAACTGAGGCTCAGCAAGGAGGAAGCAGAGCCAGGCCTCAGGCCCAGATGCCTCTGTCTTCAGTTGAAGATTAGATGTAGGGTTAATAAATATTTTTGAGTACCTCCATAGACAACACTATTCTCACAGTTTGCTGTGAGAATGAAGTAACCCTCGTTTTACAAATGAGGCCAAGCTAGGAGAGCTGAGGTCTCCCCGAGTCAGTGGCTGAGCTTGGATTGGAACACAGGTCTGGCTGTGAGCAAGGGCAGGGTTCAGGCCACTCTCAGACATTTTTTGTTGTTATTTTCTGGTCATGGAGACAGAACTTGCAGAGGAAAACGAAGGGTGGGCTGAGCACAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACATGAGCCCAGGAATTTGAGACCAGCCTGGGTAAGATGGCGAAACCCCATGTCTACAAAAAATTAGCCAGGCGTGGTGGCGCATGCTGGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATCGCTGGAGCCTGGGAATTCAAGACTGCAGTGTGTCATGATTGTACCACTGCACTCCAGCTGTAGGATGGAGTGGGACGGACCTTGTCTCAAAAAGAAAAAGATAAAAAAAAAATTAAGGGTGGTCATGGGGCACTCCCTGCCCAGGGCACAGCTGTCCCCCAGGTACCAGGGAGGGTAGAAAGCCCACCTCAGAGCATGTTTCCAAAATATCTGACAAGTGCTAGAGCCGGGGGTGGCCATAGAGGTGGCTGACCTGAGGGCGGAATTAATTCTCTATCATATGGGAGCAGCAGGCACTGACTGTAGGGAACCGCATCCTCAGATGGCATGTCCTGGGGCCAAGACCCCTTCCCAAAGCTGGGAACATAGACTCTGTGGGCTGGGTGCTCTATAGCTGGGCCCTGAAGAATGGAGCAAAGACCTGTGGCAAGGATAAATCAAGGTCTGCAGCCGGGGGTGGCTGTGGGCTGTGATTGTGTTTGGGGGCGGCCATGTGTCTCTGACCCTGTGTTTTGCCCCAACTACAGCACACTGGGATGAGAAATTCCACCACAAGATGGTGGACAACCGTGGCTTCATGGTGACTCGGTCCTATACCGTGGGTGTCATGATGATGCACCGGACAGGTAGGTGCTGTGAGGAGCAGGGTGTCAAGGTGGGTGGGGGTCCAAGGGTAGTTGGTCTGACCCACCCCTGCACACAGGGTGCCCAGTGTCCTTTCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGACGAGAAGGAAAAGCTGCAAATCGTGGAGATGCCCCTGGCCCACAAGCTCTCCAGCCTCATCATCCTCATGCCCCATCACGTG | GGTCTTCTTCAAGGATGACTACAAGTTGGGATCTACCAGAGCAGTGGGATCGCAGCCTCCACCAGGATTCCTTCTATCCTTCCCTTTGCCCTGTCATCTCTCCTGTGCTGTTGCATGATGTAGAGGAGGATAATGGCCCGAAGGGAGAGAGGGAGTGTGGAAGTATCCCAGGAACAGAGACTGTCCAAATTGGAGGCCCCAGAGAGGGAACTGGGGCTTGTCCTTGGGGCCACTGCTACTGCTGGGGCTTGGGGAGGAGGCCTGAGGGCAACCCTGAAGCCGTGGAGCAGATGGCCTGTGTGGCAGTGGCTGTCAGATTGGAGGGCAGAATGGAATCTGATGTGGCTCCAGCTTCTTTGAAGGCTGAGTGCACATCTGGCCAGCTGCTGGTGATGGGGAAGGGGGTCACTGCTCTATTGAGCTATGTGTGACTCACCCTTTTCCCTAGTATCCTGTCCTTGTGCTATGTCAGGAAGCCTCCTCCCCAGCCCCACCGAGTCTTCAAAGGAGTTGGTCCCCCAGGAGCTTTTGTCCTGGGGATTTCCCATCCGCACTGGGAGCACTGTGGGTAGATGGGCATTCCAAGTTCCTGCCCAGACAGAAGCCATGGGCATGGAGACCTGGACCTTTCAGCTTGGAAAAGGGAGACTGAGGCTGAGTGGACACAGGACACACACACACACACTCTCAGGGTCACCCTTGGGGCAGCAAAGTGGAGCATCTTGGCTCCCCATTTAATGAGTGACCCAACTGGTGACTCATTAACATCCCAGAGCAGAATGAAAGGCATGGGGGCGGGGCAGCCCTCCGGCTCTGTCCCTCATCCCTTGCCCAGGCATCTGGGTTTCCTGCAGATTCTCAGCTCAGCTGCTGCTTTTTCTCACTGGAAAAGGGCTCCCAGGGCTATGTGAGATCAGGGCTGACCACTCTATAAACTGATGAGGACCCCAGGTCTGGCCAAGTGACCCTGTTTTACCTTCGTTCAGGAAGAGCTGAGGCCTACTGTGTACTAGGCACGGGAGATATAGTGGCAACCAGATTGGCTAGCTTTTCTGTCCTGGAGGCCACAGCCTACTTAGGAGCAGAAATAGTTATGAAATAAACACACAAATAAGTGGAAGTGTTGGCTGGCCGATGCAGGAAATCAATAAGGTGGTCTGGTGGTGACTTGCTGGGAATGCTTCTTTGAGTAGGGAGGTAACAGAGGCCTCTGAGAGGCTGGCAGCTCTGAGTCAAGTCTGGGATTCCTGGACTGTGGGCTCTCTTGCCCCCATCTCCAGGGGACTTGTGGCAGCCAGAGAGCTGAGGGTGGTTGTTGGGGAGGAAGGCCTTGGGCTTCAAGACCACCCTGTCTGTGCAATCCTCACAGGCCCACCGTGGTGCACGCAAACCACTTCCTGGCCATGCGCTCCCTCCTGCTTCTCAGCGCCTTCTGCCTCCTGGAGGCGGCCCTGGCCGCCGAGGTGAAGAAACCTGCAGCCGCAGCAGCTCCTGGCACTGCGGAGAAGTTGAGCCCCAAGGCGGCCACGCTTGCCGAGCGCAGCGCCGGCCTGGCCTTCAGCTTGTACCAGGCCATGGCCAAGGACCAGGCAGTGGAGAACATCCTGGTGTCACCCGTGGTGGTGGCCTCGTCGCTAGGGCTCGTGTCGCTGGGCGGCAAGGCGACCACGGCGTCGCAGGCCAAGGCAGTGCTGAGCGCCGAGCAGCTGCGCGACGAGGAGGTGCACGCCGGCCTGGGCGAGCTGCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCTGGAAGCTGGGCAGCCGACTGTACGGACCCAGCTCAGTGAGCTTCGCTGATGACTTCGTGCGCAGCAGCAAGCAGCACTACAACTGCGAGCACTCCAAGATCAACTTCCGCGACAAGCGCAGCGCGCTGCAGTCCATCAACGAGTGGGCCGCGCAGACCACCGACGGCAAGCTGCCCGAGGTCACCAAGGACGTGGAGCGCACGGACGGCGCCCTGCTAGTCAACGCCATGTTCTTCAAGCGTGAGTCGGGGGCGCGTTCAGGGGTCCTCCTCCTCCTCCTCCCAGGACCCCCTGCAAGAGTTAGGACGACATTCCGTGCGCTCCATTCTTCACTGCCTCTCATTTATGCTGTGACAACCCAGGGAGGCAGGACTGTCACTCAGCTTTTTGTACAGACTGGAAACTAGATTCAGAGACAGGTAGCAGCGTGTAAAGGAATGGTTCAGGGAGCGGAGGCCCCAGAGGGACTCCATGGAATGTATTCCGACCGAATTTCGTCAAAGTGCTCGTCCTTGTGTATCTTGGAATGAATAACATTTAATAATCCATTCTGCCTCAGTAGTGAGCTAGAGAAAGAACTCAAATCCTTTTTTTAAAATTATTTTTATTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACTGCAGCCTTGGCCTCCGGGCTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGTGCCTACCACCACACCCAGCTAATTTTTGTATTTTTACTAGAGACGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTTTTGGTCTCAAGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGCGAGCCACCATGTGCGGCCAAGACCCAGAATCCTTAAAGCAACCTTGGGGGCAGGCAGTGTTACCTTCATTTCACAGTGAGGAAACTGAGGCTCAGCAAGGAGGAAGCAGAGCCAGGCCTCAGGCCCAGATGCCTCTGTCTTCAGTTGAAGATTAGATGTAGGGTTAATAAATATTTTTGAGTACCTCCATAGACAACACTATTCTCACAGTTTGCTGTGAGAATGAAGTAACCCTCGTTTTACAAATGAGGCCAAGCTAGGAGAGCTGAGGTCTCCCCGAGTCAGTGGCTGAGCTTGGATTGGAACACAGGTCTGGCTGTGAGCAAGGGCAGGGTTCAGGCCACTCTCAGACATTTTTTGTTGTTATTTTCTGGTCATGGAGACAGAACTTGCAGAGGAAAACGAAGGGTGGGCTGAGCACAGTAGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGTGGATCACATGAGCCCAGGAATTTGAGACCAGCCTGGGTAAGATGGCGAAACCCCATGTCTACAAAAAATTAGCCAGGCGTGGTGGCGCATGCTGGTAGTCCCAGCTACTCTGGAGGCTGAGGTGGGAGGATCGCTGGAGCCTGGGAATTCAAGACTGCAGTGTGTCATGATTGTACCACTGCACTCCAGCTGTAGGATGGAGTGGGACGGACCTTGTCTCAAAAAGAAAAAGATAAAAAAAAAATTAAGGGTGGTCATGGGGCACTCCCTGCCCAGGGCACAGCTGTCCCCCAGGTACCAGGGAGGGTAGAAAGCCCACCTCAGAGCATGTTTCCAAAATATCTGACAAGTGCTAGAGCCGGGGGTGGCCATAGAGGTGGCTGACCTGAGGGCGGAATTAATTCTCTATCATATGGGAGCAGCAGGCACTGACTGTAGGGAACCGCATCCTCAGATGGCATGTCCTGGGGCCAAGACCCCTTCCCAAAGCTGGGAACATAGACTCTGTGGGCTGGGTGCTCTATAGCTGGGCCCTGAAGAATGGAGCAAAGACCTGTGGCAAGGATAAATCAAGGTCTGCAGCCGGGGGTGGCTGTGGGCTGTGATTGTGTTTGGGGGCGGCCATGTGTCTCTGACCCTGTGTTTTGCCCCAACTACAGCACACTGGGATGAGAAATTCCACCACAAGATGGTGGACAACCGTGGCTTCATGGTGACTCGGTCCTATACCGTGGGTGTCATGATGATGCACCGGACAGGTAGGTGCTGTGAGGAGCAGGGTGTCAAGGTGGGTGGGGGTCCAAGGGTAGTTGGTCTGACCCACCCCTGCACACAGGGTGCCCAGTGTCCTTTCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGACGAGAAGGAAAAGCTGCAAATCGTGGAGATGCCCCTGGCCCACAAGCTCTCCAGCCTCATCATCCTCATGCCCCATCAC | benign | 180,936 |
Determine whether the variant at chromosome 11, position 77142737, in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACTCGCTGAGTGATGAATGAAAGGTTATGG | AGTGCAGCTGGGGCTTGGACACAAGCAGCTGTGAGGATTATATGGGGCAGTTTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATCAGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACTCGCTGAGTGATGAATGAAAGGTTATGG | benign | 180,997 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 77142788, gene MYO7A (myosin VIIA). What disease(s) is it linked to if pathogenic? | pathogenic; ['MYO7A-related_disorder'] | TTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCTGGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACTCGCTGAGTGATGAATGAAAGGTTATGGTTTCAGTCCCCACTGGAATCCCAGTGTCTTGCCTTTGTCCAAGCCATTTCT | TTACGGGATGCAGCCTGTGGAGCCCAGGCCCACAGTGAATGCTCAGTAAACAGTTCTCTTCCACGCCCAAGCCTCTCCAATTTTTCTTACTTTTTCTGGGAGGAAGTTTGGGTTTGGGACTAGCCTGACTCTATCATGTGCCAACCTCCCATTCACATGAAGAGAGGGTCCACAGGGGCAGCTGTGGCTGGAAAATAGCACATAGATGGCAGTGGTCCCATAAGACTATAATGCCATATTTTACTGTACCTTTTATGTGTATGTTTAGATATGTTTACATACACAAATACACACTATGGATTATGACTGCCTATAGTATTCAGTACAGTAGCAGGTTGTACAGGTTTGTAGTGTAGGAGCAAGAGGCTACCCCATCCAGCCTAGGTGTGTAGTGGGCTGTACCATCTAGGTTTGTGAAGTACACTCGATGACTTCATATGTTTGCATAGAACTTATCTCTGACATTAACAATGCATGACTGTAGCTGGTTCTGATGGGAACAAGAGGAGGCTGAAACAGTAATGAGTTGGTCTTGGACTCACTGAGTTCAGCCTTCACTGAGAAATGTGGAAATTGAGGCTCAGAGAGGTCAGCGACTCACCCAAGGCCGGGTAGGGCCTGAAACCCAGTCTTCTGACTCCTAGCCCAGAACAGATTCTGTCAGACCATTACCACGGTTTACTTCATTGTGAATCAGTTTTATAAGTTGTTACATTTTTTTTTACTTGATATTAAGTTATATTCTTATTAGAATGTCCCAACTCCTAGGGAGTTGGAGTACCACCCAAAAAAGAATACTTTTATTAGGATTAGAATAAAATCTAAGCTTGTATCCCAAGGCCAGCAAAGGGCCTATGTGTCCTGGACCCTGCCTACTTCTCTGAGCTCCCTCTCGCCCATCAGGTCCTACCTCCTGGCTGTTCCTTTCTGCCGCAGGGCCTTTGCATGTGCTGTTTCCTATGCTGGGATTACTGTCCCCTGCTTTTCCCTTGGCTGACTGCTTGTCACCCTTCAGGTGTCAGCTCAGCGATTCCCTCCATGGAGCGGCTCCATTGGCTACTGGGTCTAGGTTGGTTGGCTCTGTCATTCTCCACCATTGGCTTGTTTGTTTCCTTGACAGCACTCACCAGTATCCAAAGTGATCGTGCTGATCTATTTGCTCAGTTTTTTGTCACCACCTCTAACTAGAACGTAGACTCCATAATCACTGCTCAACCCCCAGCATTTAGATTAATCAGTGCTTTGCACTCAGTAGGTAATCAATACATGTTTGTTGAATCCATCAGTGCTGAATGTGGTTGTTCTTAGTCCATTTCTCTGACTTGGGATTTTACGTTTGGCTCTCACGATCCCTTGCTGAATGAGTAGTGCGAGTCAGGCCCTGGGCCAGATGCCGCAGGGGACACAAAGCGACATCCTCCCCCAGGATCAGGGCTCTCTCCACATGCCAGAAGACAATGTGGCTGAACCCTTCTCTAGTGCCCAGCACGGAGTGGTGTCCCTGTGAGGAACCTGTCATAATGATGATAAAAATCAGCCCTGGAGGTGAAGGAGGCTGCAGCATTCACCCACTGTCTGGGTGTCCTGTGGTGTCATGTTAGAGAGGAAGTGGTTTGAGTGGTCTGGTGTTTCTGTCTAGACCCCAGTGAATCTGTCATACACATGTAGGGTGTAGATCCATGGGGAGAGCTGGGCTTTGAGAGGCCTTGGCTCTCTCTGAGCCTCTGCTAAGTCATCCATAAAATGGGAATATGGCTGTTCTAGAGGGGGGATTGATGAGATTGCATAAATGCCCAGCCCAGGGCCTGCACTGCTCCAGAAGGTTGCTAGTAAGTGTGAGTCCCCTTCTCTTCCCCCTTGTGTGGTTGGCTCAGAGCCTCTGATTGTAGCAGAGGGATATAGGGCTGCCTGGAAGGGGCTCCAATCCCCCTCCCTGCTCACCTGGGCTGAGACTCTCTCTCGCCCATAGGGGGACCATGTGTGGATGGACCTGAGATTGGGGCAGGAGTTCGACGTGCCCATCGGGGCGGTGGTGAAGCTCTGCGACTCGGCAGGTCCAGGTGGTGGATGATGAAGACAATGTGAGTAGTCCCCTCCCTCCTCCTGCCCCATGCCTTGGGGTCAGACCTGGGCTGACAGCTGCCTTGATGCAGGGAGATGATCGAAAGGAGATGGAGGCCATGCCCATGCCCCCACTTCTGCCTCTCAGATGCCCCCTTCCATGAGCTTTCCCCAGCACCCCAACAAGAGGGAACCCCTGCCTGCCTCAGGCTACTTGTTCTGTTTCCACAAGCACTTCAGTCCACTCTGCATGGTGTTAGAGATGTGTGTGTGTGTGGTGGGGTTTGAGTGCAGGGGGAGCAGGCTAGGAGCTCCTCAGACACAGAGGTGCTTTGGGGGCAGACTGCATTCAAATCCTATCTCGTCCATTTGTTAGCTGCGCAAACTTGGCCTAGTCTCCTTCCCTCCTGACCCTCAGTTTCCTCTTTGTAAAATGAGGATAATAATACGTATCTCACAGGGCTGTTGACCCATACATGAGATCACACGTGCAGAACACCTCAGTGAAGTTAGTGCTAGTCTGAAAGTTAAATGAACGTCCACAGCCTCACTGTGTTGGGTTACTGACATCACATGAATCCACTGTCCACCTTGACACTGCTCTGGAAATTGGTCTCACAGATTAACCCTTTATCTGTGGCCCAGAAGGAAAGGGACCCCAGAAGTGTAAGTTTTCTAGGTAATGATAGTGGGGCCTTGGGGAGGGAAGGAGAGGTCTGAAGTCAGGGGCCTGCCCCGGAGAAGGTGGCTGGTTCACGTGAGGGCCCGGAGGGGAAGCCCTGGGGCCTCTGAGCATGCGTGCACATGTGTGTGTCACTGGGGGTATGCAGATGGGGTGCAGAGCACACAGGGGCAGCTTAGCAGGGATATGAAGAATCCAGGGAGATTCAGCTCTGCCATAATGTGGGCTGTGCCCTGCGGTGTGCCAGGGGCTGGGACACAGAATTGGACTGAGTCCCTCTTAGCCTCCTGGTCTGAGGGAGGAGAGTCAGGAGAAAGAGGGTGCAGGGACTTGAAACTGAGGCTCTGCTGGGGACGACGGGAGGGCTCAGGACCCTCGAGGCCAGGTGCTTGACAAGGAGTGGGCAGGAGCATCCCAGATATTCCTGCAGCCCTCAGGTGCATCCCCTCAGAGTTTGCAAGACCCTTTAACCCAAGTTCTGTCTTTGGACTCTCATGGCATCTGTGGAAGGCAGGGAGGGAAAGAATTGTCATCCCATGAGGAAACTGAGGCACATAGAGGGACCACACAGCCAGTCACACAGCTAGTAAGTGATGGTGCTGGGATTAGAACCCAGGACCTCTGTCTTCTATGCATGAGTTTCCCCTGTCAGCATTATCTCAGCGGCGACTTTGGAGCTCAGATTCTGCTAATCACATTTTTGGCCCTTGGGCCGTAGAACCCAAGGCCTGCAATATCATTCCAGAGGCTCCAGTTCTAGGACCCTCTAGGAACCTACTATGAGGGTGCAGCCACAGAAGGGGAGGCACAGGCTGGGTGGCAGCATAGACGGGCCTGCTAACCTGCCCAGAGCCCCCAGGGTGGGGACCAGGGACTCTGTCTGCAGGCTTGAGTTTCACCTGGGTCATGTTGCATGTCAGATGGTGTCCCGTAACTGCGTCACCGAATCCCAAAGGTCCCCTCCCGCTTCTCCTCCACCCAGGCCCTGAGAGTGGGGGCTGCAGGAGGGGTGGGCATGACTGGCTGGCAGGGGCAGTTCGGGAGGCTGGGGTTTGCATCTGTGGCATTGGACCCCCAGGGCTTCCAGACCGCTCCTTCACAAGCCTTTCCCACCCCCATTCCATCCCCTCCCTCCCAACTCCAGGCTGTCATCTCTTACCCCTCTGTCTGCCCACAGACTCCTAGCAACTTGAGAGCAGGGAACAGGCCAGTCCCATCTGGTTCCCCAGAGTTCATCAAGGGGTCTGCCCAGGGAAGGCTCTTGGCAAAGACTCGCTGAGTGATGAATGAAAGGTTATGGTTTCAGTCCCCACTGGAATCCCAGTGTCTTGCCTTTGTCCAAGCCATTTCTNN | pathogenic | 181,004 |
Is chromosome 11, position 77147799, gene MYO7A (myosin VIIA) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Usher_syndrome_type_2'] | GGCCCAGAAGTGCCGTGGAGTATCAGGGAAACTGGGGTGGGGGGCTCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAAGGTAGAGGGAACAGTGGAGCGAAGTCACAGAGGCCTTTGGGGACATGAAACCCGTGTTCCCTGGCTAGGATGTACCGGGGGTAGCTGGGATGGAGGTTAGGGGTCCTTGTGTCTAGCGCATGCTGGCCCTTGATGCCAGGCTGAGGAGCCCAGGGGAGTCAGGGAAGGGCTGAGAGCCCCAGAGTGACAGGGTCAGGAGGGTGCCTCAGGAAAGGCCCAGGGGACGAGGGATTTGATGGAAGAGCTGGAGGTAAGATGGGGACAGCAAGAGGCCGGGGCCGGGCCAGTGAGAGACGGTGGTCTCAATCAGGGTATGGGCTTGAGGGTGGCAAGGAGGGTACTGCCCACTCAGCAGCCTTTTAGAGGGTTGAATGGGCAGGACTGGGTGACCTGTTGGACTGGGGTGGTGGTGGGGGGAGCTGATGTCCAGATTCCTGCTAGTGTCCAGCTGTTGGGGTTGACTATGCCAGAAGGGACCTGGAGGAGGAGCAGGTGGGGGAGGACATGGCATGTGCATCACATCTGCTCAGCGAGTCTCAGGGCCTGAGCTGGGAGGTGGCAGAGAGGTCCCCTTTCCCCCCAGAAGGCAGGTCCTGGGGCTACTGGGTCATGGCATTTGGGGATGGGAGGGCTGACGTACTCTCAGGCAATGGCCACACTTCCCTGAGAGTCTGGGATTTTGCAAAGGTGCTGGAGACCCTCTGGGGGCGGGGAGGGCCCCAGGGCCCTGAGGAAACCAGGGCTTTGCCAGCTTGTTGAAAGAGCTGGTGCACTTCCCAAATGCTCACCCATCTGCCACCACAAGGCAGCTGGGGAATATTGCGGAGTAAGGAGAGCTGGGCAGGCAGCCTGTGTCCTCCACTTCAGCTCACACGTCCCAAGAGTTCACACCTCTTGCTCCCACAGGTCATCAGCAAGCCCCAGGAAATATCTCCTGGGTGGGTCCCCTTCTCCCCATCACCACTGCTACTGCCCTGCCTTCCAGCTTTCCCCTGAACCTGCCAAGCCTTTGCCAGCCTGAGGAGTTGTTTTGCTGTTCCCTGGGCCTGGAGCCCTCTGCCCCCCTCCCCCTAATCTTTTTACAGTGGTCTCTTTCTCTTCCTTCATGCCTCAGCTCATATGCCACCTCCTCGGAGGGGCAGTCCCTGACCACCACATCTCAAGCAGCTCCCCCCATGACTCTCCACCACATACACCTGTTGAGGTATTCTTGGCACTATCTGAAATCACTTTTTAATGTTTTTCTTTCTTTCTTTCTTTCTTTTTTACCGGAGCCTGAATTTGAGACCAAGCTTGTCTACTTCTAATTATTACCCTTTCCACTCCATCCTGCAAAGGGCCTGAGGGAACTCTGATCCCCTTACTGACAACAGTCAGATGGGGCCAAAATCCCTGCCCTGCCCACCTCTTAGGTCTGCGGGAAAATCCCCTAAGAGAAGGAGCGGTCCTTGAGGGGTAGAGGTGGCTGGTACCATCCTGACTGAACCCTGTTAGAACTGACAGTGTCTGGCTGCCAGAGAGGTCGAGGCCCTTACCCGGGTTGGCACTCACCCCGCGCTCCCGCCCGTCCCGGCCCCTTCCCCTGAAGTGCGCAGCCTGGGCCCCAGGAGAGCACGCTGACGTTCTGGCTCCCCGCAGGAACACTGGATCTCTCCGCAGAACGCAACGCACATCAAGCCTATGCACCCCACGTCGGTCCACGGCGTGGAGGACATGATCCGCCTGGGGGACCTCAACGAGGCGGGCATCTTGCGCAACCTGCTTATCCGCTACCGGGACCACCTCATCTACGTGAGTGCCGCCCCGCCCGGTGCCCGTCCAGGCCCCCTCAGGCCCCGCCCCGCCCACCTCGCCCCACCCCGCCCGACTTGCCTCCGGCCCCGCCCTGCCGGGGCCCTGCCTCCTGAGACTTTGTCCGCTGTGCAGCTGGACCCCGGGGCCCCTGCTGGGGCCCATCTGCCGGCAGCCGCTCGGCGGGGTCTCATCCTCTTGGGCTGTGGCTTTTGTAGTCTGTGGTTGGGGTGGGGAGCGGTTTGTACTACGCAGTTTTCATGTGCCTCTCTAGGCCTTGAAACCAATGGGAGGCCAGGGTGGAGTCAGTGAGCGGCTTGGTGCTTTGCCCATGCACAGGAGGGCAGCTCTGCTGGGCGTTTGCTAAGGGACTAGGACCTGCCATCAGGCCGCAGGGCCAAGAGAGGATGGATAGGGATGGATGGATATCCTCAGGAGGGTGCTAAAGGAGGGAACATGCTCTGCTCCTCCACCCCTCAAACCTTGATATTAGAAACACACACACACACCACTCTCCTCCACCTTCAAATGGGGAGGACAAATAAAGATGTCTGCCCCAGCCAGGACAGAGCAGATTCCAAGAGGCTGAGCTCAGAGAAGAGCAGAGCAATAAGGGCCCGTGGAGATCATTTACTCTAGAGGTTCTCACACTTTTTGGTCACAGGGACCCTTTATGTTCTTAAAAATTATTGAGGATCCCAAAGGACTTTTGTGTACTGGGTTATATCTGTTGATATTTGCCATATTAGAAGTTAAAGCTGGGACATTTAGAAACGTATTAATTTTTGAAAAAGTAACCATAATAAATCTATTATAAGATAATATAAATAACATTTTTACTAAAAATGACATTTCCCAAAATAATAAAAATGGTGAGAAGAGTAGCATTGTTTTTACAGATTTTTTCAAATCTCTTTAATGTCTGGCTTAATAAAGCCAACTGGATTCTCATCTCTGCTTCACGTCCAGTCTGATGTGATATTTTGGCTGAAGTGTTTGAAGAAAATCTGGCCTCACAGATGTGTAGTTGGAAAAGAGATGGCTTTGCAGACTTCCTGCAAGGGTCTTGGACCCCCTAGGGGTCTTTGGTCCACACCCTGACAACTGCTGCTCTAGCCCAATAGCCCAGTTGCAGACAGGGAAACTGAGACTCCACAGGTTTAGCCAGGCCCAGAGCTGTGCCGTGCCCGGGTCACTGCCTGCTTCTGACCCAGCCCCATCCTCCCGCAGCCCAAGGGTAAAGGAAACCAAGGATGTGCAACCCCCAGCAGAGAGCAGGAGGGACCCCCCTGATGCAGGGCTGGCCTGATTATCTCGAGACCCAGGCCCAGGGAAGGCTGGTACTAGGGGCATTACTGGGGGAGGTGTGGGGTCTGCAGGAGTGATGTCACTCCCAGCTCAGAGGGGTGGTATTTGGGCTTCTGGAGGTGGGTGAGGTTGGCTGGTAGAGATGGCATTCAGGAGGGGGCATGGCATGAATAAATGCTGGAGGTAGGGCCATGCTGGCAAGCGATCGGCAGGCAGTGTCCCTCAGGTTGTCAGGACCATGAAGGGGTGCTAGGGCCCAGGGCTGGAAAAGTCTCAGGGAGCCCCAGGTGTTGTCACTGAAGAATCACGGCAAGGAGCTCTCAGGGCCAGGGGTCCAGTCCCTCTCAGGAGCCCTGGAATTACGGCCCTTCAGCTGCCAGAGAGGTCCTCAGCCACTGTCTGACTCTAGGTCCCTCTGCAGCTTCAGGCTCCAGAGGAGAGGCTGTGTATGGCTCCTTGCTGTCCATTTTTTGGGCATAGGAAGTGGCTTTCGCAGGGAGCCTTCTAGCACTGACAAAGCCCCTCTCACTCTGTCCCTCAGTCAGGCCTCACCTGCACTCAGAGAGGCAGGGCATGGGGGGCTCTTCC | GGCCCAGAAGTGCCGTGGAGTATCAGGGAAACTGGGGTGGGGGGCTCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAAGGTAGAGGGAACAGTGGAGCGAAGTCACAGAGGCCTTTGGGGACATGAAACCCGTGTTCCCTGGCTAGGATGTACCGGGGGTAGCTGGGATGGAGGTTAGGGGTCCTTGTGTCTAGCGCATGCTGGCCCTTGATGCCAGGCTGAGGAGCCCAGGGGAGTCAGGGAAGGGCTGAGAGCCCCAGAGTGACAGGGTCAGGAGGGTGCCTCAGGAAAGGCCCAGGGGACGAGGGATTTGATGGAAGAGCTGGAGGTAAGATGGGGACAGCAAGAGGCCGGGGCCGGGCCAGTGAGAGACGGTGGTCTCAATCAGGGTATGGGCTTGAGGGTGGCAAGGAGGGTACTGCCCACTCAGCAGCCTTTTAGAGGGTTGAATGGGCAGGACTGGGTGACCTGTTGGACTGGGGTGGTGGTGGGGGGAGCTGATGTCCAGATTCCTGCTAGTGTCCAGCTGTTGGGGTTGACTATGCCAGAAGGGACCTGGAGGAGGAGCAGGTGGGGGAGGACATGGCATGTGCATCACATCTGCTCAGCGAGTCTCAGGGCCTGAGCTGGGAGGTGGCAGAGAGGTCCCCTTTCCCCCCAGAAGGCAGGTCCTGGGGCTACTGGGTCATGGCATTTGGGGATGGGAGGGCTGACGTACTCTCAGGCAATGGCCACACTTCCCTGAGAGTCTGGGATTTTGCAAAGGTGCTGGAGACCCTCTGGGGGCGGGGAGGGCCCCAGGGCCCTGAGGAAACCAGGGCTTTGCCAGCTTGTTGAAAGAGCTGGTGCACTTCCCAAATGCTCACCCATCTGCCACCACAAGGCAGCTGGGGAATATTGCGGAGTAAGGAGAGCTGGGCAGGCAGCCTGTGTCCTCCACTTCAGCTCACACGTCCCAAGAGTTCACACCTCTTGCTCCCACAGGTCATCAGCAAGCCCCAGGAAATATCTCCTGGGTGGGTCCCCTTCTCCCCATCACCACTGCTACTGCCCTGCCTTCCAGCTTTCCCCTGAACCTGCCAAGCCTTTGCCAGCCTGAGGAGTTGTTTTGCTGTTCCCTGGGCCTGGAGCCCTCTGCCCCCCTCCCCCTAATCTTTTTACAGTGGTCTCTTTCTCTTCCTTCATGCCTCAGCTCATATGCCACCTCCTCGGAGGGGCAGTCCCTGACCACCACATCTCAAGCAGCTCCCCCCATGACTCTCCACCACATACACCTGTTGAGGTATTCTTGGCACTATCTGAAATCACTTTTTAATGTTTTTCTTTCTTTCTTTCTTTCTTTTTTACCGGAGCCTGAATTTGAGACCAAGCTTGTCTACTTCTAATTATTACCCTTTCCACTCCATCCTGCAAAGGGCCTGAGGGAACTCTGATCCCCTTACTGACAACAGTCAGATGGGGCCAAAATCCCTGCCCTGCCCACCTCTTAGGTCTGCGGGAAAATCCCCTAAGAGAAGGAGCGGTCCTTGAGGGGTAGAGGTGGCTGGTACCATCCTGACTGAACCCTGTTAGAACTGACAGTGTCTGGCTGCCAGAGAGGTCGAGGCCCTTACCCGGGTTGGCACTCACCCCGCGCTCCCGCCCGTCCCGGCCCCTTCCCCTGAAGTGCGCAGCCTGGGCCCCAGGAGAGCACGCTGACGTTCTGGCTCCCCGCAGGAACACACTGGATCTCTCCGCAGAACGCAACGCACATCAAGCCTATGCACCCCACGTCGGTCCACGGCGTGGAGGACATGATCCGCCTGGGGGACCTCAACGAGGCGGGCATCTTGCGCAACCTGCTTATCCGCTACCGGGACCACCTCATCTACGTGAGTGCCGCCCCGCCCGGTGCCCGTCCAGGCCCCCTCAGGCCCCGCCCCGCCCACCTCGCCCCACCCCGCCCGACTTGCCTCCGGCCCCGCCCTGCCGGGGCCCTGCCTCCTGAGACTTTGTCCGCTGTGCAGCTGGACCCCGGGGCCCCTGCTGGGGCCCATCTGCCGGCAGCCGCTCGGCGGGGTCTCATCCTCTTGGGCTGTGGCTTTTGTAGTCTGTGGTTGGGGTGGGGAGCGGTTTGTACTACGCAGTTTTCATGTGCCTCTCTAGGCCTTGAAACCAATGGGAGGCCAGGGTGGAGTCAGTGAGCGGCTTGGTGCTTTGCCCATGCACAGGAGGGCAGCTCTGCTGGGCGTTTGCTAAGGGACTAGGACCTGCCATCAGGCCGCAGGGCCAAGAGAGGATGGATAGGGATGGATGGATATCCTCAGGAGGGTGCTAAAGGAGGGAACATGCTCTGCTCCTCCACCCCTCAAACCTTGATATTAGAAACACACACACACACCACTCTCCTCCACCTTCAAATGGGGAGGACAAATAAAGATGTCTGCCCCAGCCAGGACAGAGCAGATTCCAAGAGGCTGAGCTCAGAGAAGAGCAGAGCAATAAGGGCCCGTGGAGATCATTTACTCTAGAGGTTCTCACACTTTTTGGTCACAGGGACCCTTTATGTTCTTAAAAATTATTGAGGATCCCAAAGGACTTTTGTGTACTGGGTTATATCTGTTGATATTTGCCATATTAGAAGTTAAAGCTGGGACATTTAGAAACGTATTAATTTTTGAAAAAGTAACCATAATAAATCTATTATAAGATAATATAAATAACATTTTTACTAAAAATGACATTTCCCAAAATAATAAAAATGGTGAGAAGAGTAGCATTGTTTTTACAGATTTTTTCAAATCTCTTTAATGTCTGGCTTAATAAAGCCAACTGGATTCTCATCTCTGCTTCACGTCCAGTCTGATGTGATATTTTGGCTGAAGTGTTTGAAGAAAATCTGGCCTCACAGATGTGTAGTTGGAAAAGAGATGGCTTTGCAGACTTCCTGCAAGGGTCTTGGACCCCCTAGGGGTCTTTGGTCCACACCCTGACAACTGCTGCTCTAGCCCAATAGCCCAGTTGCAGACAGGGAAACTGAGACTCCACAGGTTTAGCCAGGCCCAGAGCTGTGCCGTGCCCGGGTCACTGCCTGCTTCTGACCCAGCCCCATCCTCCCGCAGCCCAAGGGTAAAGGAAACCAAGGATGTGCAACCCCCAGCAGAGAGCAGGAGGGACCCCCCTGATGCAGGGCTGGCCTGATTATCTCGAGACCCAGGCCCAGGGAAGGCTGGTACTAGGGGCATTACTGGGGGAGGTGTGGGGTCTGCAGGAGTGATGTCACTCCCAGCTCAGAGGGGTGGTATTTGGGCTTCTGGAGGTGGGTGAGGTTGGCTGGTAGAGATGGCATTCAGGAGGGGGCATGGCATGAATAAATGCTGGAGGTAGGGCCATGCTGGCAAGCGATCGGCAGGCAGTGTCCCTCAGGTTGTCAGGACCATGAAGGGGTGCTAGGGCCCAGGGCTGGAAAAGTCTCAGGGAGCCCCAGGTGTTGTCACTGAAGAATCACGGCAAGGAGCTCTCAGGGCCAGGGGTCCAGTCCCTCTCAGGAGCCCTGGAATTACGGCCCTTCAGCTGCCAGAGAGGTCCTCAGCCACTGTCTGACTCTAGGTCCCTCTGCAGCTTCAGGCTCCAGAGGAGAGGCTGTGTATGGCTCCTTGCTGTCCATTTTTTGGGCATAGGAAGTGGCTTTCGCAGGGAGCCTTCTAGCACTGACAAAGCCCCTCTCACTCTGTCCCTCAGTCAGGCCTCACCTGCACTCAGAGAGGCAGGGCATGGGGGGCTCTT | pathogenic | 181,010 |
Regarding the variant at chromosome 11 and position 77147844, affecting gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2'] | TCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAAGGTAGAGGGAACAGTGGAGCGAAGTCACAGAGGCCTTTGGGGACATGAAACCCGTGTTCCCTGGCTAGGATGTACCGGGGGTAGCTGGGATGGAGGTTAGGGGTCCTTGTGTCTAGCGCATGCTGGCCCTTGATGCCAGGCTGAGGAGCCCAGGGGAGTCAGGGAAGGGCTGAGAGCCCCAGAGTGACAGGGTCAGGAGGGTGCCTCAGGAAAGGCCCAGGGGACGAGGGATTTGATGGAAGAGCTGGAGGTAAGATGGGGACAGCAAGAGGCCGGGGCCGGGCCAGTGAGAGACGGTGGTCTCAATCAGGGTATGGGCTTGAGGGTGGCAAGGAGGGTACTGCCCACTCAGCAGCCTTTTAGAGGGTTGAATGGGCAGGACTGGGTGACCTGTTGGACTGGGGTGGTGGTGGGGGGAGCTGATGTCCAGATTCCTGCTAGTGTCCAGCTGTTGGGGTTGACTATGCCAGAAGGGACCTGGAGGAGGAGCAGGTGGGGGAGGACATGGCATGTGCATCACATCTGCTCAGCGAGTCTCAGGGCCTGAGCTGGGAGGTGGCAGAGAGGTCCCCTTTCCCCCCAGAAGGCAGGTCCTGGGGCTACTGGGTCATGGCATTTGGGGATGGGAGGGCTGACGTACTCTCAGGCAATGGCCACACTTCCCTGAGAGTCTGGGATTTTGCAAAGGTGCTGGAGACCCTCTGGGGGCGGGGAGGGCCCCAGGGCCCTGAGGAAACCAGGGCTTTGCCAGCTTGTTGAAAGAGCTGGTGCACTTCCCAAATGCTCACCCATCTGCCACCACAAGGCAGCTGGGGAATATTGCGGAGTAAGGAGAGCTGGGCAGGCAGCCTGTGTCCTCCACTTCAGCTCACACGTCCCAAGAGTTCACACCTCTTGCTCCCACAGGTCATCAGCAAGCCCCAGGAAATATCTCCTGGGTGGGTCCCCTTCTCCCCATCACCACTGCTACTGCCCTGCCTTCCAGCTTTCCCCTGAACCTGCCAAGCCTTTGCCAGCCTGAGGAGTTGTTTTGCTGTTCCCTGGGCCTGGAGCCCTCTGCCCCCCTCCCCCTAATCTTTTTACAGTGGTCTCTTTCTCTTCCTTCATGCCTCAGCTCATATGCCACCTCCTCGGAGGGGCAGTCCCTGACCACCACATCTCAAGCAGCTCCCCCCATGACTCTCCACCACATACACCTGTTGAGGTATTCTTGGCACTATCTGAAATCACTTTTTAATGTTTTTCTTTCTTTCTTTCTTTCTTTTTTACCGGAGCCTGAATTTGAGACCAAGCTTGTCTACTTCTAATTATTACCCTTTCCACTCCATCCTGCAAAGGGCCTGAGGGAACTCTGATCCCCTTACTGACAACAGTCAGATGGGGCCAAAATCCCTGCCCTGCCCACCTCTTAGGTCTGCGGGAAAATCCCCTAAGAGAAGGAGCGGTCCTTGAGGGGTAGAGGTGGCTGGTACCATCCTGACTGAACCCTGTTAGAACTGACAGTGTCTGGCTGCCAGAGAGGTCGAGGCCCTTACCCGGGTTGGCACTCACCCCGCGCTCCCGCCCGTCCCGGCCCCTTCCCCTGAAGTGCGCAGCCTGGGCCCCAGGAGAGCACGCTGACGTTCTGGCTCCCCGCAGGAACACTGGATCTCTCCGCAGAACGCAACGCACATCAAGCCTATGCACCCCACGTCGGTCCACGGCGTGGAGGACATGATCCGCCTGGGGGACCTCAACGAGGCGGGCATCTTGCGCAACCTGCTTATCCGCTACCGGGACCACCTCATCTACGTGAGTGCCGCCCCGCCCGGTGCCCGTCCAGGCCCCCTCAGGCCCCGCCCCGCCCACCTCGCCCCACCCCGCCCGACTTGCCTCCGGCCCCGCCCTGCCGGGGCCCTGCCTCCTGAGACTTTGTCCGCTGTGCAGCTGGACCCCGGGGCCCCTGCTGGGGCCCATCTGCCGGCAGCCGCTCGGCGGGGTCTCATCCTCTTGGGCTGTGGCTTTTGTAGTCTGTGGTTGGGGTGGGGAGCGGTTTGTACTACGCAGTTTTCATGTGCCTCTCTAGGCCTTGAAACCAATGGGAGGCCAGGGTGGAGTCAGTGAGCGGCTTGGTGCTTTGCCCATGCACAGGAGGGCAGCTCTGCTGGGCGTTTGCTAAGGGACTAGGACCTGCCATCAGGCCGCAGGGCCAAGAGAGGATGGATAGGGATGGATGGATATCCTCAGGAGGGTGCTAAAGGAGGGAACATGCTCTGCTCCTCCACCCCTCAAACCTTGATATTAGAAACACACACACACACCACTCTCCTCCACCTTCAAATGGGGAGGACAAATAAAGATGTCTGCCCCAGCCAGGACAGAGCAGATTCCAAGAGGCTGAGCTCAGAGAAGAGCAGAGCAATAAGGGCCCGTGGAGATCATTTACTCTAGAGGTTCTCACACTTTTTGGTCACAGGGACCCTTTATGTTCTTAAAAATTATTGAGGATCCCAAAGGACTTTTGTGTACTGGGTTATATCTGTTGATATTTGCCATATTAGAAGTTAAAGCTGGGACATTTAGAAACGTATTAATTTTTGAAAAAGTAACCATAATAAATCTATTATAAGATAATATAAATAACATTTTTACTAAAAATGACATTTCCCAAAATAATAAAAATGGTGAGAAGAGTAGCATTGTTTTTACAGATTTTTTCAAATCTCTTTAATGTCTGGCTTAATAAAGCCAACTGGATTCTCATCTCTGCTTCACGTCCAGTCTGATGTGATATTTTGGCTGAAGTGTTTGAAGAAAATCTGGCCTCACAGATGTGTAGTTGGAAAAGAGATGGCTTTGCAGACTTCCTGCAAGGGTCTTGGACCCCCTAGGGGTCTTTGGTCCACACCCTGACAACTGCTGCTCTAGCCCAATAGCCCAGTTGCAGACAGGGAAACTGAGACTCCACAGGTTTAGCCAGGCCCAGAGCTGTGCCGTGCCCGGGTCACTGCCTGCTTCTGACCCAGCCCCATCCTCCCGCAGCCCAAGGGTAAAGGAAACCAAGGATGTGCAACCCCCAGCAGAGAGCAGGAGGGACCCCCCTGATGCAGGGCTGGCCTGATTATCTCGAGACCCAGGCCCAGGGAAGGCTGGTACTAGGGGCATTACTGGGGGAGGTGTGGGGTCTGCAGGAGTGATGTCACTCCCAGCTCAGAGGGGTGGTATTTGGGCTTCTGGAGGTGGGTGAGGTTGGCTGGTAGAGATGGCATTCAGGAGGGGGCATGGCATGAATAAATGCTGGAGGTAGGGCCATGCTGGCAAGCGATCGGCAGGCAGTGTCCCTCAGGTTGTCAGGACCATGAAGGGGTGCTAGGGCCCAGGGCTGGAAAAGTCTCAGGGAGCCCCAGGTGTTGTCACTGAAGAATCACGGCAAGGAGCTCTCAGGGCCAGGGGTCCAGTCCCTCTCAGGAGCCCTGGAATTACGGCCCTTCAGCTGCCAGAGAGGTCCTCAGCCACTGTCTGACTCTAGGTCCCTCTGCAGCTTCAGGCTCCAGAGGAGAGGCTGTGTATGGCTCCTTGCTGTCCATTTTTTGGGCATAGGAAGTGGCTTTCGCAGGGAGCCTTCTAGCACTGACAAAGCCCCTCTCACTCTGTCCCTCAGTCAGGCCTCACCTGCACTCAGAGAGGCAGGGCATGGGGGGCTCTTCCAGATGTCATCAGCATCACCCAGCCAGCAGGGAGGAGCTAGAACTC | TCTGTCCAGCGCAGCCCCTAATCCCCCTGAGGGCCTGGGCAGGCTGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAAGGTAGAGGGAACAGTGGAGCGAAGTCACAGAGGCCTTTGGGGACATGAAACCCGTGTTCCCTGGCTAGGATGTACCGGGGGTAGCTGGGATGGAGGTTAGGGGTCCTTGTGTCTAGCGCATGCTGGCCCTTGATGCCAGGCTGAGGAGCCCAGGGGAGTCAGGGAAGGGCTGAGAGCCCCAGAGTGACAGGGTCAGGAGGGTGCCTCAGGAAAGGCCCAGGGGACGAGGGATTTGATGGAAGAGCTGGAGGTAAGATGGGGACAGCAAGAGGCCGGGGCCGGGCCAGTGAGAGACGGTGGTCTCAATCAGGGTATGGGCTTGAGGGTGGCAAGGAGGGTACTGCCCACTCAGCAGCCTTTTAGAGGGTTGAATGGGCAGGACTGGGTGACCTGTTGGACTGGGGTGGTGGTGGGGGGAGCTGATGTCCAGATTCCTGCTAGTGTCCAGCTGTTGGGGTTGACTATGCCAGAAGGGACCTGGAGGAGGAGCAGGTGGGGGAGGACATGGCATGTGCATCACATCTGCTCAGCGAGTCTCAGGGCCTGAGCTGGGAGGTGGCAGAGAGGTCCCCTTTCCCCCCAGAAGGCAGGTCCTGGGGCTACTGGGTCATGGCATTTGGGGATGGGAGGGCTGACGTACTCTCAGGCAATGGCCACACTTCCCTGAGAGTCTGGGATTTTGCAAAGGTGCTGGAGACCCTCTGGGGGCGGGGAGGGCCCCAGGGCCCTGAGGAAACCAGGGCTTTGCCAGCTTGTTGAAAGAGCTGGTGCACTTCCCAAATGCTCACCCATCTGCCACCACAAGGCAGCTGGGGAATATTGCGGAGTAAGGAGAGCTGGGCAGGCAGCCTGTGTCCTCCACTTCAGCTCACACGTCCCAAGAGTTCACACCTCTTGCTCCCACAGGTCATCAGCAAGCCCCAGGAAATATCTCCTGGGTGGGTCCCCTTCTCCCCATCACCACTGCTACTGCCCTGCCTTCCAGCTTTCCCCTGAACCTGCCAAGCCTTTGCCAGCCTGAGGAGTTGTTTTGCTGTTCCCTGGGCCTGGAGCCCTCTGCCCCCCTCCCCCTAATCTTTTTACAGTGGTCTCTTTCTCTTCCTTCATGCCTCAGCTCATATGCCACCTCCTCGGAGGGGCAGTCCCTGACCACCACATCTCAAGCAGCTCCCCCCATGACTCTCCACCACATACACCTGTTGAGGTATTCTTGGCACTATCTGAAATCACTTTTTAATGTTTTTCTTTCTTTCTTTCTTTCTTTTTTACCGGAGCCTGAATTTGAGACCAAGCTTGTCTACTTCTAATTATTACCCTTTCCACTCCATCCTGCAAAGGGCCTGAGGGAACTCTGATCCCCTTACTGACAACAGTCAGATGGGGCCAAAATCCCTGCCCTGCCCACCTCTTAGGTCTGCGGGAAAATCCCCTAAGAGAAGGAGCGGTCCTTGAGGGGTAGAGGTGGCTGGTACCATCCTGACTGAACCCTGTTAGAACTGACAGTGTCTGGCTGCCAGAGAGGTCGAGGCCCTTACCCGGGTTGGCACTCACCCCGCGCTCCCGCCCGTCCCGGCCCCTTCCCCTGAAGTGCGCAGCCTGGGCCCCAGGAGAGCACGCTGACGTTCTGGCTCCCCGCAGGAACACTGGATCTCTCCGCAGAACGCAACGCACATCAAGCCTATGCACCCACGTCGGTCCACGGCGTGGAGGACATGATCCGCCTGGGGGACCTCAACGAGGCGGGCATCTTGCGCAACCTGCTTATCCGCTACCGGGACCACCTCATCTACGTGAGTGCCGCCCCGCCCGGTGCCCGTCCAGGCCCCCTCAGGCCCCGCCCCGCCCACCTCGCCCCACCCCGCCCGACTTGCCTCCGGCCCCGCCCTGCCGGGGCCCTGCCTCCTGAGACTTTGTCCGCTGTGCAGCTGGACCCCGGGGCCCCTGCTGGGGCCCATCTGCCGGCAGCCGCTCGGCGGGGTCTCATCCTCTTGGGCTGTGGCTTTTGTAGTCTGTGGTTGGGGTGGGGAGCGGTTTGTACTACGCAGTTTTCATGTGCCTCTCTAGGCCTTGAAACCAATGGGAGGCCAGGGTGGAGTCAGTGAGCGGCTTGGTGCTTTGCCCATGCACAGGAGGGCAGCTCTGCTGGGCGTTTGCTAAGGGACTAGGACCTGCCATCAGGCCGCAGGGCCAAGAGAGGATGGATAGGGATGGATGGATATCCTCAGGAGGGTGCTAAAGGAGGGAACATGCTCTGCTCCTCCACCCCTCAAACCTTGATATTAGAAACACACACACACACCACTCTCCTCCACCTTCAAATGGGGAGGACAAATAAAGATGTCTGCCCCAGCCAGGACAGAGCAGATTCCAAGAGGCTGAGCTCAGAGAAGAGCAGAGCAATAAGGGCCCGTGGAGATCATTTACTCTAGAGGTTCTCACACTTTTTGGTCACAGGGACCCTTTATGTTCTTAAAAATTATTGAGGATCCCAAAGGACTTTTGTGTACTGGGTTATATCTGTTGATATTTGCCATATTAGAAGTTAAAGCTGGGACATTTAGAAACGTATTAATTTTTGAAAAAGTAACCATAATAAATCTATTATAAGATAATATAAATAACATTTTTACTAAAAATGACATTTCCCAAAATAATAAAAATGGTGAGAAGAGTAGCATTGTTTTTACAGATTTTTTCAAATCTCTTTAATGTCTGGCTTAATAAAGCCAACTGGATTCTCATCTCTGCTTCACGTCCAGTCTGATGTGATATTTTGGCTGAAGTGTTTGAAGAAAATCTGGCCTCACAGATGTGTAGTTGGAAAAGAGATGGCTTTGCAGACTTCCTGCAAGGGTCTTGGACCCCCTAGGGGTCTTTGGTCCACACCCTGACAACTGCTGCTCTAGCCCAATAGCCCAGTTGCAGACAGGGAAACTGAGACTCCACAGGTTTAGCCAGGCCCAGAGCTGTGCCGTGCCCGGGTCACTGCCTGCTTCTGACCCAGCCCCATCCTCCCGCAGCCCAAGGGTAAAGGAAACCAAGGATGTGCAACCCCCAGCAGAGAGCAGGAGGGACCCCCCTGATGCAGGGCTGGCCTGATTATCTCGAGACCCAGGCCCAGGGAAGGCTGGTACTAGGGGCATTACTGGGGGAGGTGTGGGGTCTGCAGGAGTGATGTCACTCCCAGCTCAGAGGGGTGGTATTTGGGCTTCTGGAGGTGGGTGAGGTTGGCTGGTAGAGATGGCATTCAGGAGGGGGCATGGCATGAATAAATGCTGGAGGTAGGGCCATGCTGGCAAGCGATCGGCAGGCAGTGTCCCTCAGGTTGTCAGGACCATGAAGGGGTGCTAGGGCCCAGGGCTGGAAAAGTCTCAGGGAGCCCCAGGTGTTGTCACTGAAGAATCACGGCAAGGAGCTCTCAGGGCCAGGGGTCCAGTCCCTCTCAGGAGCCCTGGAATTACGGCCCTTCAGCTGCCAGAGAGGTCCTCAGCCACTGTCTGACTCTAGGTCCCTCTGCAGCTTCAGGCTCCAGAGGAGAGGCTGTGTATGGCTCCTTGCTGTCCATTTTTTGGGCATAGGAAGTGGCTTTCGCAGGGAGCCTTCTAGCACTGACAAAGCCCCTCTCACTCTGTCCCTCAGTCAGGCCTCACCTGCACTCAGAGAGGCAGGGCATGGGGGGCTCTTCCAGATGTCATCAGCATCACCCAGCCAGCAGGGAGGAGCTAGAACTCN | pathogenic | 181,011 |
Gene mutation in MYO7A (myosin VIIA) at chromosome 11, position 77147888—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'MYO7A-related_disorder', 'Usher_syndrome_type_1'] | TGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAAGGTAGAGGGAACAGTGGAGCGAAGTCACAGAGGCCTTTGGGGACATGAAACCCGTGTTCCCTGGCTAGGATGTACCGGGGGTAGCTGGGATGGAGGTTAGGGGTCCTTGTGTCTAGCGCATGCTGGCCCTTGATGCCAGGCTGAGGAGCCCAGGGGAGTCAGGGAAGGGCTGAGAGCCCCAGAGTGACAGGGTCAGGAGGGTGCCTCAGGAAAGGCCCAGGGGACGAGGGATTTGATGGAAGAGCTGGAGGTAAGATGGGGACAGCAAGAGGCCGGGGCCGGGCCAGTGAGAGACGGTGGTCTCAATCAGGGTATGGGCTTGAGGGTGGCAAGGAGGGTACTGCCCACTCAGCAGCCTTTTAGAGGGTTGAATGGGCAGGACTGGGTGACCTGTTGGACTGGGGTGGTGGTGGGGGGAGCTGATGTCCAGATTCCTGCTAGTGTCCAGCTGTTGGGGTTGACTATGCCAGAAGGGACCTGGAGGAGGAGCAGGTGGGGGAGGACATGGCATGTGCATCACATCTGCTCAGCGAGTCTCAGGGCCTGAGCTGGGAGGTGGCAGAGAGGTCCCCTTTCCCCCCAGAAGGCAGGTCCTGGGGCTACTGGGTCATGGCATTTGGGGATGGGAGGGCTGACGTACTCTCAGGCAATGGCCACACTTCCCTGAGAGTCTGGGATTTTGCAAAGGTGCTGGAGACCCTCTGGGGGCGGGGAGGGCCCCAGGGCCCTGAGGAAACCAGGGCTTTGCCAGCTTGTTGAAAGAGCTGGTGCACTTCCCAAATGCTCACCCATCTGCCACCACAAGGCAGCTGGGGAATATTGCGGAGTAAGGAGAGCTGGGCAGGCAGCCTGTGTCCTCCACTTCAGCTCACACGTCCCAAGAGTTCACACCTCTTGCTCCCACAGGTCATCAGCAAGCCCCAGGAAATATCTCCTGGGTGGGTCCCCTTCTCCCCATCACCACTGCTACTGCCCTGCCTTCCAGCTTTCCCCTGAACCTGCCAAGCCTTTGCCAGCCTGAGGAGTTGTTTTGCTGTTCCCTGGGCCTGGAGCCCTCTGCCCCCCTCCCCCTAATCTTTTTACAGTGGTCTCTTTCTCTTCCTTCATGCCTCAGCTCATATGCCACCTCCTCGGAGGGGCAGTCCCTGACCACCACATCTCAAGCAGCTCCCCCCATGACTCTCCACCACATACACCTGTTGAGGTATTCTTGGCACTATCTGAAATCACTTTTTAATGTTTTTCTTTCTTTCTTTCTTTCTTTTTTACCGGAGCCTGAATTTGAGACCAAGCTTGTCTACTTCTAATTATTACCCTTTCCACTCCATCCTGCAAAGGGCCTGAGGGAACTCTGATCCCCTTACTGACAACAGTCAGATGGGGCCAAAATCCCTGCCCTGCCCACCTCTTAGGTCTGCGGGAAAATCCCCTAAGAGAAGGAGCGGTCCTTGAGGGGTAGAGGTGGCTGGTACCATCCTGACTGAACCCTGTTAGAACTGACAGTGTCTGGCTGCCAGAGAGGTCGAGGCCCTTACCCGGGTTGGCACTCACCCCGCGCTCCCGCCCGTCCCGGCCCCTTCCCCTGAAGTGCGCAGCCTGGGCCCCAGGAGAGCACGCTGACGTTCTGGCTCCCCGCAGGAACACTGGATCTCTCCGCAGAACGCAACGCACATCAAGCCTATGCACCCCACGTCGGTCCACGGCGTGGAGGACATGATCCGCCTGGGGGACCTCAACGAGGCGGGCATCTTGCGCAACCTGCTTATCCGCTACCGGGACCACCTCATCTACGTGAGTGCCGCCCCGCCCGGTGCCCGTCCAGGCCCCCTCAGGCCCCGCCCCGCCCACCTCGCCCCACCCCGCCCGACTTGCCTCCGGCCCCGCCCTGCCGGGGCCCTGCCTCCTGAGACTTTGTCCGCTGTGCAGCTGGACCCCGGGGCCCCTGCTGGGGCCCATCTGCCGGCAGCCGCTCGGCGGGGTCTCATCCTCTTGGGCTGTGGCTTTTGTAGTCTGTGGTTGGGGTGGGGAGCGGTTTGTACTACGCAGTTTTCATGTGCCTCTCTAGGCCTTGAAACCAATGGGAGGCCAGGGTGGAGTCAGTGAGCGGCTTGGTGCTTTGCCCATGCACAGGAGGGCAGCTCTGCTGGGCGTTTGCTAAGGGACTAGGACCTGCCATCAGGCCGCAGGGCCAAGAGAGGATGGATAGGGATGGATGGATATCCTCAGGAGGGTGCTAAAGGAGGGAACATGCTCTGCTCCTCCACCCCTCAAACCTTGATATTAGAAACACACACACACACCACTCTCCTCCACCTTCAAATGGGGAGGACAAATAAAGATGTCTGCCCCAGCCAGGACAGAGCAGATTCCAAGAGGCTGAGCTCAGAGAAGAGCAGAGCAATAAGGGCCCGTGGAGATCATTTACTCTAGAGGTTCTCACACTTTTTGGTCACAGGGACCCTTTATGTTCTTAAAAATTATTGAGGATCCCAAAGGACTTTTGTGTACTGGGTTATATCTGTTGATATTTGCCATATTAGAAGTTAAAGCTGGGACATTTAGAAACGTATTAATTTTTGAAAAAGTAACCATAATAAATCTATTATAAGATAATATAAATAACATTTTTACTAAAAATGACATTTCCCAAAATAATAAAAATGGTGAGAAGAGTAGCATTGTTTTTACAGATTTTTTCAAATCTCTTTAATGTCTGGCTTAATAAAGCCAACTGGATTCTCATCTCTGCTTCACGTCCAGTCTGATGTGATATTTTGGCTGAAGTGTTTGAAGAAAATCTGGCCTCACAGATGTGTAGTTGGAAAAGAGATGGCTTTGCAGACTTCCTGCAAGGGTCTTGGACCCCCTAGGGGTCTTTGGTCCACACCCTGACAACTGCTGCTCTAGCCCAATAGCCCAGTTGCAGACAGGGAAACTGAGACTCCACAGGTTTAGCCAGGCCCAGAGCTGTGCCGTGCCCGGGTCACTGCCTGCTTCTGACCCAGCCCCATCCTCCCGCAGCCCAAGGGTAAAGGAAACCAAGGATGTGCAACCCCCAGCAGAGAGCAGGAGGGACCCCCCTGATGCAGGGCTGGCCTGATTATCTCGAGACCCAGGCCCAGGGAAGGCTGGTACTAGGGGCATTACTGGGGGAGGTGTGGGGTCTGCAGGAGTGATGTCACTCCCAGCTCAGAGGGGTGGTATTTGGGCTTCTGGAGGTGGGTGAGGTTGGCTGGTAGAGATGGCATTCAGGAGGGGGCATGGCATGAATAAATGCTGGAGGTAGGGCCATGCTGGCAAGCGATCGGCAGGCAGTGTCCCTCAGGTTGTCAGGACCATGAAGGGGTGCTAGGGCCCAGGGCTGGAAAAGTCTCAGGGAGCCCCAGGTGTTGTCACTGAAGAATCACGGCAAGGAGCTCTCAGGGCCAGGGGTCCAGTCCCTCTCAGGAGCCCTGGAATTACGGCCCTTCAGCTGCCAGAGAGGTCCTCAGCCACTGTCTGACTCTAGGTCCCTCTGCAGCTTCAGGCTCCAGAGGAGAGGCTGTGTATGGCTCCTTGCTGTCCATTTTTTGGGCATAGGAAGTGGCTTTCGCAGGGAGCCTTCTAGCACTGACAAAGCCCCTCTCACTCTGTCCCTCAGTCAGGCCTCACCTGCACTCAGAGAGGCAGGGCATGGGGGGCTCTTCCAGATGTCATCAGCATCACCCAGCCAGCAGGGAGGAGCTAGAACTCGAGCCCAGGGCACCCACCCGCCGTATCTCACAGGGACCCGCTGG | TGCCACCCTCCTCCGAGCCTGTTTTCTCATGTGAAGTGAGGGGGCTGGAATGGGGGACTTCTGGGGTCTGTCCATGACTGACTTCTGCCTCTCATTCAGACCTGGTCCCCCGCAGTCACCAGCCAGCCATCTGTCCCATCAGAGGCTCCCTGCCACATCATTTGTGCCCGGCCCCTGTGTGAGGCACCGTGGCCTGAGATGTGGCCCTGGAGGCAGGGGGATGGCACAGATGGAGCATGTGAGGGTGGCCAGCACTGTCAGGGGAGGCTTCAGAAACTGGGAAACCTCCGAGCCAAGCCTCGAAGGCTAAGGAGAAAGAAGGTAGAGGGAACAGTGGAGCGAAGTCACAGAGGCCTTTGGGGACATGAAACCCGTGTTCCCTGGCTAGGATGTACCGGGGGTAGCTGGGATGGAGGTTAGGGGTCCTTGTGTCTAGCGCATGCTGGCCCTTGATGCCAGGCTGAGGAGCCCAGGGGAGTCAGGGAAGGGCTGAGAGCCCCAGAGTGACAGGGTCAGGAGGGTGCCTCAGGAAAGGCCCAGGGGACGAGGGATTTGATGGAAGAGCTGGAGGTAAGATGGGGACAGCAAGAGGCCGGGGCCGGGCCAGTGAGAGACGGTGGTCTCAATCAGGGTATGGGCTTGAGGGTGGCAAGGAGGGTACTGCCCACTCAGCAGCCTTTTAGAGGGTTGAATGGGCAGGACTGGGTGACCTGTTGGACTGGGGTGGTGGTGGGGGGAGCTGATGTCCAGATTCCTGCTAGTGTCCAGCTGTTGGGGTTGACTATGCCAGAAGGGACCTGGAGGAGGAGCAGGTGGGGGAGGACATGGCATGTGCATCACATCTGCTCAGCGAGTCTCAGGGCCTGAGCTGGGAGGTGGCAGAGAGGTCCCCTTTCCCCCCAGAAGGCAGGTCCTGGGGCTACTGGGTCATGGCATTTGGGGATGGGAGGGCTGACGTACTCTCAGGCAATGGCCACACTTCCCTGAGAGTCTGGGATTTTGCAAAGGTGCTGGAGACCCTCTGGGGGCGGGGAGGGCCCCAGGGCCCTGAGGAAACCAGGGCTTTGCCAGCTTGTTGAAAGAGCTGGTGCACTTCCCAAATGCTCACCCATCTGCCACCACAAGGCAGCTGGGGAATATTGCGGAGTAAGGAGAGCTGGGCAGGCAGCCTGTGTCCTCCACTTCAGCTCACACGTCCCAAGAGTTCACACCTCTTGCTCCCACAGGTCATCAGCAAGCCCCAGGAAATATCTCCTGGGTGGGTCCCCTTCTCCCCATCACCACTGCTACTGCCCTGCCTTCCAGCTTTCCCCTGAACCTGCCAAGCCTTTGCCAGCCTGAGGAGTTGTTTTGCTGTTCCCTGGGCCTGGAGCCCTCTGCCCCCCTCCCCCTAATCTTTTTACAGTGGTCTCTTTCTCTTCCTTCATGCCTCAGCTCATATGCCACCTCCTCGGAGGGGCAGTCCCTGACCACCACATCTCAAGCAGCTCCCCCCATGACTCTCCACCACATACACCTGTTGAGGTATTCTTGGCACTATCTGAAATCACTTTTTAATGTTTTTCTTTCTTTCTTTCTTTCTTTTTTACCGGAGCCTGAATTTGAGACCAAGCTTGTCTACTTCTAATTATTACCCTTTCCACTCCATCCTGCAAAGGGCCTGAGGGAACTCTGATCCCCTTACTGACAACAGTCAGATGGGGCCAAAATCCCTGCCCTGCCCACCTCTTAGGTCTGCGGGAAAATCCCCTAAGAGAAGGAGCGGTCCTTGAGGGGTAGAGGTGGCTGGTACCATCCTGACTGAACCCTGTTAGAACTGACAGTGTCTGGCTGCCAGAGAGGTCGAGGCCCTTACCCGGGTTGGCACTCACCCCGCGCTCCCGCCCGTCCCGGCCCCTTCCCCTGAAGTGCGCAGCCTGGGCCCCAGGAGAGCACGCTGACGTTCTGGCTCCCCGCAGGAACACTGGATCTCTCCGCAGAACGCAACGCACATCAAGCCTATGCACCCCACGTCGGTCCACGGCGTGGAGGACATGATCCGCCTGGGGGAACCTCAACGAGGCGGGCATCTTGCGCAACCTGCTTATCCGCTACCGGGACCACCTCATCTACGTGAGTGCCGCCCCGCCCGGTGCCCGTCCAGGCCCCCTCAGGCCCCGCCCCGCCCACCTCGCCCCACCCCGCCCGACTTGCCTCCGGCCCCGCCCTGCCGGGGCCCTGCCTCCTGAGACTTTGTCCGCTGTGCAGCTGGACCCCGGGGCCCCTGCTGGGGCCCATCTGCCGGCAGCCGCTCGGCGGGGTCTCATCCTCTTGGGCTGTGGCTTTTGTAGTCTGTGGTTGGGGTGGGGAGCGGTTTGTACTACGCAGTTTTCATGTGCCTCTCTAGGCCTTGAAACCAATGGGAGGCCAGGGTGGAGTCAGTGAGCGGCTTGGTGCTTTGCCCATGCACAGGAGGGCAGCTCTGCTGGGCGTTTGCTAAGGGACTAGGACCTGCCATCAGGCCGCAGGGCCAAGAGAGGATGGATAGGGATGGATGGATATCCTCAGGAGGGTGCTAAAGGAGGGAACATGCTCTGCTCCTCCACCCCTCAAACCTTGATATTAGAAACACACACACACACCACTCTCCTCCACCTTCAAATGGGGAGGACAAATAAAGATGTCTGCCCCAGCCAGGACAGAGCAGATTCCAAGAGGCTGAGCTCAGAGAAGAGCAGAGCAATAAGGGCCCGTGGAGATCATTTACTCTAGAGGTTCTCACACTTTTTGGTCACAGGGACCCTTTATGTTCTTAAAAATTATTGAGGATCCCAAAGGACTTTTGTGTACTGGGTTATATCTGTTGATATTTGCCATATTAGAAGTTAAAGCTGGGACATTTAGAAACGTATTAATTTTTGAAAAAGTAACCATAATAAATCTATTATAAGATAATATAAATAACATTTTTACTAAAAATGACATTTCCCAAAATAATAAAAATGGTGAGAAGAGTAGCATTGTTTTTACAGATTTTTTCAAATCTCTTTAATGTCTGGCTTAATAAAGCCAACTGGATTCTCATCTCTGCTTCACGTCCAGTCTGATGTGATATTTTGGCTGAAGTGTTTGAAGAAAATCTGGCCTCACAGATGTGTAGTTGGAAAAGAGATGGCTTTGCAGACTTCCTGCAAGGGTCTTGGACCCCCTAGGGGTCTTTGGTCCACACCCTGACAACTGCTGCTCTAGCCCAATAGCCCAGTTGCAGACAGGGAAACTGAGACTCCACAGGTTTAGCCAGGCCCAGAGCTGTGCCGTGCCCGGGTCACTGCCTGCTTCTGACCCAGCCCCATCCTCCCGCAGCCCAAGGGTAAAGGAAACCAAGGATGTGCAACCCCCAGCAGAGAGCAGGAGGGACCCCCCTGATGCAGGGCTGGCCTGATTATCTCGAGACCCAGGCCCAGGGAAGGCTGGTACTAGGGGCATTACTGGGGGAGGTGTGGGGTCTGCAGGAGTGATGTCACTCCCAGCTCAGAGGGGTGGTATTTGGGCTTCTGGAGGTGGGTGAGGTTGGCTGGTAGAGATGGCATTCAGGAGGGGGCATGGCATGAATAAATGCTGGAGGTAGGGCCATGCTGGCAAGCGATCGGCAGGCAGTGTCCCTCAGGTTGTCAGGACCATGAAGGGGTGCTAGGGCCCAGGGCTGGAAAAGTCTCAGGGAGCCCCAGGTGTTGTCACTGAAGAATCACGGCAAGGAGCTCTCAGGGCCAGGGGTCCAGTCCCTCTCAGGAGCCCTGGAATTACGGCCCTTCAGCTGCCAGAGAGGTCCTCAGCCACTGTCTGACTCTAGGTCCCTCTGCAGCTTCAGGCTCCAGAGGAGAGGCTGTGTATGGCTCCTTGCTGTCCATTTTTTGGGCATAGGAAGTGGCTTTCGCAGGGAGCCTTCTAGCACTGACAAAGCCCCTCTCACTCTGTCCCTCAGTCAGGCCTCACCTGCACTCAGAGAGGCAGGGCATGGGGGGCTCTTCCAGATGTCATCAGCATCACCCAGCCAGCAGGGAGGAGCTAGAACTCGAGCCCAGGGCACCCACCCGCCGTATCTCACAGGGACCCGCTG | pathogenic | 181,012 |
Is chromosome 11, position 77155942, gene MYO7A (myosin VIIA) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | GCATGGCATCAGCCTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTG | GCATGGCATCAGCCTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCATACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGT | pathogenic | 181,021 |
Variant at chromosome 11, position 77155955, gene MYO7A (myosin VIIA): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCT | CTGTGCTGTGTGGGGATCATGGGCCAGACGGCTGAGCATCACATTATTAAGAAGAAAGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGG | pathogenic | 181,024 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 77156011, gene MYO7A (myosin VIIA). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss,_autosomal_recessive', 'MYO7A-related_disorder', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1'] | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCC | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCC | pathogenic | 181,026 |
Mutation at chromosome 11, position 77156011, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy'] | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCC | AGTTTAGCTGGGCATGGTGGCACATGCCTAGAACCCCAGCTACTCGAGACGTGGAGGCAGGAGAATCTCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACCCAGCCTGGGCGACAGAGCGAGACTCTGCCTCAAAAGAGAGAAAGGAAGGTGGCGTTTATGTATCAGGCGCCTGGCAAAGGTTATGTCTTTGCCCTTTAGTCTTTACAACAGCCAAGGGAGGTGGGTGTTAACCTCCCCTTTTACAAATTAGCAAACTGAGGTTTGCCAAAGGGATGTTCTTTGGGGCTGGTTCCTAGTCTGATGCAGGTTTCCACCAGAATCTAGCCGGTTCCCATGGCTGGGCAGGGCTGAACTATAGGGGATGATGGCTGAGGGGTCTGAGAGCAGGGCCTGGTGGGCTGGGGGTCCACAGGTCCTGATCTGAGAATTCAGCAGCCCTGGGCCATGTGGGTGTCATTCGTGGAAAATGCTCTTGTAGCCCCTGTTCCCCACTGACCAGCTTCCTTTGCTTCTGCTCTGCACTTTGCAACCTCAGACCAACTGCGGAGGGCGGGTGAGTGTGGCACAGAGAGCCAGCTCCAGCTGGCGTCTTATTTGGCTGCCTGCCTGCTTGGCCTGGCTGCTCCCCTCCAGCCTCCCGCCCCCACCCCACCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCN | pathogenic | 181,027 |
Gene MYO7A (myosin VIIA) variant at chromosome position 77156683 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss,_autosomal_recessive', 'Rare_genetic_deafness', 'Usher_syndrome_type_1'] | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACAT | CCCCAGCTCTTCCTGCTTGGCTCTTGTGGTACGGTTAGTAGGTCAGCACAGTGAGGCTCAAGTGCTTCTCTCCATGGGTTGATTGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATN | pathogenic | 181,040 |
Classify the chromosome 11 variant at position 77156766 affecting gene MYO7A (myosin VIIA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Rare_genetic_deafness'] | TGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGC | TGGAGGAAGAGGCTTAGGTGGGAAAGGAAGGTCTTCCTGGGCCCAGGGGCCCAGAGAAGGGCAGTTTCTGGCCAGCCCTCCTGGTCCAGGCCAGCCAAGGCCAGGACTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCN | pathogenic | 181,042 |
Mutation at chromosome 11, position 77156872, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGC | CTGGAGCCTGGGTCTTGGCCCCACCTGGCCCCAGGGTGGGCATTTCCCCTGGCATGCGGTGCCTGCATCCACACTCTCCCTGCGTGGCCACAGTAGGCTGAGGCTGCTGGGGCATAGCTGCGGCTCTGCTGTGATGCACTGAGCCCTGAATGGGAGGGGGAGGGCAGGTTGTCACCTCCCCTGGACATCTTTCTTCAGCCTCTCCAGGCCCCGGATATCAATACATCCACTGCCAATTATGGTCTAGGCCTGCCTGACCTTTTCAAGTTTGAGACGTGGGGTGGGAGGAGGGAGAAGTAACCCTGAGTGCCTCACCCTGCTCTGGTGGCAGAAGGGCCAGGCTGTTGTCCCCTGTGGCAGGACCTCAAGGCCACAACAGGAAGCCTTGCCTACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCN | pathogenic | 181,044 |
Does the chromosome 11 mutation at position 77157263 within gene MYO7A (myosin VIIA) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | ACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACACAGGGAAGGGTAAGCTGACAGCAGGAAGAGCTTGTGCAAAGGTCCTGAGAACAGAGCACATGTCGGGGAGGGGATCCAAAGCTTGTCTAACAGGAGCCAGGGCTGCTGCCAAGAGCCCTGGGAGTGGGGAGAGAGCTGCAATGGCCAGTGTCTATTCCTCGAATGCCAGGCATGGTGCCATGTGCAGGGCATACGTGGTCCCTACCCTCATGCTGCCTGCAGACTCATGGTGAGAACATTAATCAAATACACCTTGACCTGGGGAAGCATTTA | ACAGACAGCTGATCTTTGCACTAACAGAGGAGCCCAAGTAGAGAACCTCCTTAAGGCTATCTGAGGTGCACCTGGCCCCTGCGCCTACGCTGCCCAGGATGGCTGGAGGTGCTCTGTCCCCTAGAGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACACAGGGAAGGGTAAGCTGACAGCAGGAAGAGCTTGTGCAAAGGTCCTGAGAACAGAGCACATGTCGGGGAGGGGATCCAAAGCTTGTCTAACAGGAGCCAGGGCTGCTGCCAAGAGCCCTGGGAGTGGGGAGAGAGCTGCAATGGCCAGTGTCTATTCCTCGAATGCCAGGCATGGTGCCATGTGCAGGGCATACGTGGTCCCTACCCTCATGCTGCCTGCAGACTCATGGTGAGAACATTAATCAAATACACCTTGACCTG | benign | 181,060 |
Variant chromosome 11, position 77157387, gene MYO7A (myosin VIIA): benign or pathogenic? Disease(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACACAGGGAAGGGTAAGCTGACAGCAGGAAGAGCTTGTGCAAAGGTCCTGAGAACAGAGCACATGTCGGGGAGGGGATCCAAAGCTTGTCTAACAGGAGCCAGGGCTGCTGCCAAGAGCCCTGGGAGTGGGGAGAGAGCTGCAATGGCCAGTGTCTATTCCTCGAATGCCAGGCATGGTGCCATGTGCAGGGCATACGTGGTCCCTACCCTCATGCTGCCTGCAGACTCATGGTGAGAACATTAATCAAATACACCTTGACCTGGGGAAGCATTTAGTCACAATGCTGATGCCCTCCCTGGACAGGGCAGGACCCCGGCAGCAGGAGTGGCAGCCTAGTCCTCTTAGGACTGTCCCCTTGCCCCTGTTGCCCACCCTCCCTCCCCTGATGCTGTGCCCCT | AGCACAGCATCTCCCTCTGTCCTGGGGCAGTGCTACAGAGAGTGGGGCCCACCCAGCCCCCAAGCCACTTACCCCAGCTCCTTCAGCTCTTTATGGCTAATTTCTCACGCCCCTCTTCCTCACCAACCTGGCCTCCCTCTGGACATGGTCCCGTTGATTAATTTCGCTCTAAAAGTTTGGGATACAGGGCCTGGAGGCGATGGTGGGAGACAGCATTTGCAGAGTACCTAGTGTGTGCCACGAATTTTAAAAGATACCACCTCCTTTAATCTTCACAAACAGTTACGCTCATTTTACAGATGAAGAGAAGGAAATCTAGGCTTAGAGACTCCACCTCCCTCTTCATCAAATGTCACTGAGCACTAACTCCGAGCCAGACCCAGTGCTGGACAGAAGGCCCTGCCCCAGCTCCTAAGGAGGCCCGATTCTGGCTCCAGGTCCACCCACATGACTCCAAAGCCAGGACTCTTCCCTCCAGGGTGCTGGAGCAGGGCAGAGCCCAAGAGCTTTCTAGAGTCAGAGTCTCCCACATGGAATCAGCGAGCTCCCCATCTCTTGCTGCCCGCAGACGTATACGGGCTCCATCCTGGTGGCTGTGAACCCCTACCAGCTGCTCTCCATCTACTCGCCAGAGCACATCCGCCAGTATACCAACAAGAAGATTGGGGAGATGCCCCCCCACATCTTTGCCATTGCTGACAACTGCTACTTCAACATGAAACGCAACAGCCGAGACCAGTGCTGCATCATCAGGTGGGCGGCCCAGCACCTGTGTGGAGCTCCAGGCTTAGGACCTAGAGCTCCAACTGTGCGCTCCTGCTGATACCTCTAGGAATTGCCCCCGCTGTCGGAAATGCCATCAAGCTCTTCAGGAACCAGACCTATGTACTCTGTGCTGTGTAACAATGTAGAAAATCACCTCCCCTTTCTGGGGTCTTATATCTCTGTGCTACCAAAGCTCACATTAGCTTTTGAGGCCAGCCTTGTTTACTGCTGGTTCCTGTTAAGTTATGGTCAGTTGACATCTCAGGCTCCTATTTTCTTTTGGGCAGAGGGCAAAAGACAAAGCATTGACTGAGCATCTAATATGTGTTGTGCTCTATGACAAGTATGGATGCAGGTGTATTTGTATCTGAACGAAGGTGAAGGAGAGTGCGGTGGAGCACTGGGCCCTTGAGCCCTGCCCCAGCCCTGGAGGGTCCGTATTGTCAGCTGATATTACAGATGGGGGAGCTGGTGGATGGTGCAGCCTGGGCTGAGTTCCAGTTGGTGGGGAGTCCCTGTGGGTTGTGACAGGTCCTGCCACTCCCTCCCTCTGCAGTGGGGAATCTGGGGCCGGGAAGACGGAGAGCACAAAGCTGATCCTGCAGTTCCTGGCAGCCATCAGTGGGCAGCACTCGTGGATTGAGCAGCAGGTCTTGGAGGCCACCCCCATTCTGGAAGGTAGGACCAGAGTTCCGAGGGTGGGACCAGGCAGTGGGGCGGGAGCGGGCTTTGCCAGTGACACCCTACTCACTCCGCAGCATTTGGGAATGCCAAGACCATCCGCAATGACAACTCAAGCCGTTTCGGAAAGTACATCGACATCCACTTCAACAAGCGGGGCGCCATCGAGGGCGCGAAGATTGAGCAGTACCTGCTGGAAAAGTCACGTGTCTGTCGCCAGGTGGGCCTGAGCCCCAGGGATGCAGGAATAGACCCAGGCCCCTGGCCTCAGGGGTCTGCGTGGCCCACCTGCCCGTATTGCTGCCCGTATTGCTCCCCCACCTGCCCGTATTGCTGCCTGCTTCCCTCTGTGCTGGAAATCCCACCATGAAACCCACCGATGGGCTTCTCCACAAGCCATTTGTTAAAATAGTAAACCATCATCCCAGGCTAGTTCCTGATGGCCTCCTCTGGCCCTCCTCCCCTGGCCCCCAGCACTGTGCCCACATTTTCAGGCCCTGGATGAAAGGAACTACCACGTGTTCTACTGCATGCTGGAGGGTATGAGTGAGGATCAGAAGAAGAAGCTGGGCTTGGGCCAGGCCTCTGACTACAACTACTTGGCCCATGGTGAGGCCCAGGTGGGCCCCTGGGTAGGGGGGCACCCACCCTAGGATTGTAGGGAGCTGGCTACTGCAGACTCAGCCTTGAGGTCTCACTGGTCACAGGGCTCAGGTGCCAGCTTCTTGCTGGCTTGTCTGGACACCAAGGAGAAGTGGGCTCCTGGCCATTGCTGCCACCAAGCAAAGGGTGGGGGACCTTGGGGCACGCACACGGCAGGCTGGCTTGGGAAGCACCACTCCTTTAGCCATGGGGAGAGCCCATGTCTGGTTGCCTGGGCTGGGCTGGGGTGGGCCAGGCCACATGGACGTAAGTGTGGGCTATGGCACCTGAAGCGTATATGTGTGTGTGCATGTGTGTGTTGTAGGTGTGACAGGTGTCCCTGGACACTTTCTGTAGCTGGCTGGCACACACGTGCACACACACACACTCTTGTAGACACACAGAGAATGGGGTGTGCCCACTGTTGAAACCCTGCTCGTATGCAGTTACCTCTCCTCTGTCTACACCAGGCAGTACCTGCCTAGGGGGTCGAGTCCCTGATAGTGGGTATCCCCGGGGGGCTGCAGGAGCCTAGTAGGGCCTAAGTGCTGTGACTGCCAGGTGGGCAACAGGGGCTGGCCTGGCATCAGTGACCTGCCTGCTCTTCATGGGAAGAAGGGGCACCAGCACCCCCAGATGTGGAGAATGAGTTCCTGGGAAGCCCAGGCTTTCTAGACCCTCCAGACTTTCTGGAGGAGTTGTGGTGCTCACCGGGTGAGGTCAGCGCCTGGGGCCCCGGGCTGGCCTGGCCTGTCAGGCAGAAAGGGCCTTTTGGGCAGGCAGCCAGGCACTGCCCCTCTGGGGGTACACTGACGTCCTCTTGCACCCCACTCTCCCACCCTGCCCACCAGGGTAACTGCATAACCTGTGAGGGCCGGGTGGACAGCCAGGAGTACGCCAACATCCGCTCCGCCATGAAGGTGCTCATGTTCACTGACACCGAGAACTGGGAGATCTCGAAGCTCCTGGCTGCCATCCTGCACCTGGGCAACCTGCAGTATGAGGGTGAGGCTGCGCCACACTCGCCCTGCCCCACCCCTGCGCCAAGGGCAGTGCAGTGCCTTGCTGCCCACGTGGTATTGGCAGCTCAGTTTCTGTCCTAGCACGTGCCCTCTTTGGGATGGAAGCTGGGAAGAATTCGCCTGTGGGTAGATTTGAACAGGTCTGCTAGATTGAAATCAGCGGTGGGTGTGGTGTCGCTGTGCTGACAGTCCACCACGGAGAGGTACAGTTAAAGTATATTGGGAGTTGTCTATGGACACTTTAAGACTCACTTCAAATTTGGTTTCTTCTTTAAAGTCACATGTCTTAGAGAGAGGGTAAATCTTTGAACTAATTCACTCTAAGGTGTGAGTGACTGGATAGCCATCTTTGGAAAGGGAGAAGGCTAGGGAAGGGAACGTGTTCACTCATCTAACATTCTTGGACACCCACTATGTGCCAGGCTGGGAGGTGATCCCCTGAGGCAGGTGGCAGGTCCCACTCTGCTCTTGCCCCTGATTCCCAGCATGGTCCCCAGGCAGAGTAGGAGCCCCAGGAAATGTGCCCAAGGAATGAATGATCCCAGCACTAAGGAGATCACAGTCTAGGCATCTTGAAAGACTAAGAGACACAGGGAAGGGTAAGCTGACAGCAGGAAGAGCTTGTGCAAAGGTCCTGAGAACAGAGCACATGTCGGGGAGGGGATCCAAAGCTTGTCTAACAGGAGCCAGGGCTGCTGCCAAGAGCCCTGGGAGTGGGGAGAGAGCTGCAATGGCCAGTGTCTATTCCTCGAATGCCAGGCATGGTGCCATGTGCAGGGCATACGTGGTCCCTACCCTCATGCTGCCTGCAGACTCATGGTGAGAACATTAATCAAATACACCTTGACCTGGGGAAGCATTTAGTCACAATGCTGATGCCCTCCCTGGACAGGGCAGGACCCCGGCAGCAGGAGTGGCAGCCTAGTCCTCTTAGGACTGTCCCCTTGCCCCTGTTGCCCACCCTCCCTCCCCTGATGCTGTGCCCC | pathogenic | 181,065 |
Chromosome 11, position 77162125, gene MYO7A (myosin VIIA): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | CCAGTGCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTG | CCAGTGCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGNNNNNNNN | pathogenic | 181,096 |
Is the genetic mutation found on chromosome 11 at position 77162130, within the gene MYO7A (myosin VIIA), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAG | GCCGGAAAGTGGAGGGATCCGGGTGTGGGTGGAGGGAGGGGCAGGCTGGCAGGTGAGCACCTGGGGTGTTGCCTGTACCAGGTGAACCCCCCAGACCTGATGAGCTGCCTGACTAGCCGCACCCTCATCACCCGCGGGGAGACGGTGTCCACCCCACTGAGCAGGGAACAGGCACTGGACGTGCGCGACGCCTTCGTAAAGGTGGGCTGGAGGGAAGGGGCCGCTTGCTCGCCCTACCCCTTGGGAAGTTGGGCTCTTGATGGGCAGGTGCCAAGGAGTCCTGGGAGGTGGGTAGACATCTGGGTCGCCACCCCTGCCTGCCCCGGGGCTGCAGTCGGCCTTCCTTGAGTCCCAGGTGCCCATGCTCCTCTGGGGCCTTCCCAGCTCTGGCCGCCCCAGGCCCTTGGCTTTTGGCCTGCTTTGGTCAGCCATGTTGTTCCCAGCCCAGGGATACTCTCTTTGGTCTCTTTGCAGAAGACACAGAAGAGGGGATCTAGGTCAGGTCCTGTTTCTACAACCACACGTTTGCCATTCATCGAGCCTTCACCCACCACACCAGGCCCTGGGCTGGGTTCGGGGACCTCAGAGATAAACAGGGTTGGACATAGAGATGAGAGCCCCAAGGAGGGCTCCTTCCCCTGCTGCATGGTCAGGGAAGGCTTCTCCAAGAGGAGCTGTTATCTCAACAGAGCCTTGAAAAATGTGTAGGAACTGTTCAAGCAGGAAAAGGGGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCA | pathogenic | 181,097 |
Chromosome 11, position 77162860, gene MYO7A (myosin VIIA): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss', 'Retinal_dystrophy', 'Usher_syndrome_type_1'] | GGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAA | GGTCTCCAGGCAGAGGGAACAGCTCAAGTAAAGGGTTGGGGGTTTCACACGGCACTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGAACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAN | pathogenic | 181,106 |
Evaluate this variant at chromosome 11, position 77162914, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Inborn_genetic_diseases', 'Retinal_dystrophy', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | CTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTT | CTTTGTTCCACACAAGGGCTGGAGCGACACCACGAAGGGTCCAGGAGCCTGGCCTGTCCCCCGGGGGAGGGTGTGGCTGGTGCCAGTGGCTGATCACTGCCTTTCAGGGGATCTACGGGCGGCTGTTCGTGTGGATTGTGGACAAGATCAACGCAGCAATTTACAAGCCTCCCTCCCAGGATGTGAAGAACTCTCGCAGGTCCATCGGCCTCCTGGACATCTTTGGGTTTGAGAACTTTGCTGTGAACAGGTACCGCGTGGGGCTCTGCTCATGGGAATTTCCTTCCCCAATATGGAAATAAGAAATATCACGTCTCTCCCTTGCGAAGCACATTTAGTTGGCTCCTGGCACACTCTGCCAGGCTGTTCCGTCATCACGGTGGACCCTCTCCCTTTCCTTCCCATCCCCTCGTGTCCCTCACCTCCTCAAGGTCAGCTGAGCCTGGCTGGGGTTGTCAGGAGGCTGTACGCATCCTGAACACTTGGGGAGGAAACCTCTGGTCTCCAGGACCCACTGGCCACTGCCGATCTGCCCAGATCCATGCTGCAAGGCGCCTCAAAGCAGGGAGGCCAGGCCTGTGCCACGCTTGTGTTGGGGTCTCCGCCACCCTTGGGATTCTGTGCCTTTTAGGGGCCGTGTGAGGGACTGATGGGTGGTGTCACATACAGGCGGGTCCTGGAGCCCCACTTCCTGCTGGAAAGTCAGGACCTGGCAAGTCATATCAGTTCCCTTGCTGTTTGGATGTCTCAAAGCCCTCCAGCACCAAAACACCCACACTCAACATACTGGGCTGTGTCCGTGGCTCGGCCATGTCTGCAGCCAGGGCTCTGTTTCCCAAGTCTTGTCAACCCCCTTCCCACCTCCCAAGGCCACTTTTGATGTCCCTGTATGGCCCACCAGCCAGCCTCTGGGGTCTTTCTCTCCCAGGCATCTGCCTGGGGTTTGGGTGCCCACCTGCCAATCCCCAGCCCTCCCCAGGGCTTGATCATGCCAGGGAAAGAGTCCTGAAAAGCCTTAGCTCTCCTTCTGGCTCACAGAGTGACCCTAGGCAAGTCCTTTGCCCTTGCTGGGCCTCCGTGTCCTCCTCTGCACCTGGAGGGAGGTGGACTTGACAATTCCCCTCGCCTCTGAGTTTGGAGTCCATGATGGGGATAGCTTGCTAATGGCCATGCTGCAGGTGGAGGCAGAGCCAGGCCCTGAACAGCATGGTGGGGCCTGAACAACACCCTTACCCCATCCCTGTGCCCCTGCAGCTTTGAGCAGCTCTGCATCAACTTCGCCAATGAGCACCTGCAGCAGTTCTTTGTGCGGCACGTGTTCAAGCTGGAGCAGGAGGAATATGACCTGGAGAGCATTGACTGGCTGCACATCGAGTTCACTGACAACCAGGATGCCCTGGACATGATTGCCAACAAGCCCATGAACATCATCTCCCTCATCGATGAGGAGAGCAAGTTCCCCAAGGTGGGCCGGTCCTGCTGCCGCCTCCCAGGGTCTTGGGTGCGCACAGCTTCCTTCCCTGCTTTGAGCCCCGGCTTTCCTCATCTGCAAAATAGGACTAATGATACCCACCTCTCAAGTTGGCTCAGGGGCCAATTCAAGTATAGGCATCTGCCATTTGGGAATCACCTACAGTCCATGGGGTTCTGGGCCAGGCCATGAAGATCCATGCATGCAGTTGGCATGGAATGGGTACTCAGGACACAGTGTATATCTCAGAGTTGGGGAGGGGGAGAGGGGATTGCACCCATGATTTTAATCTTGGGAAATCGATTGTCTAAACTGGAATGCACTTTCAAAGTTGTGTAGTTCCAATTCATCCACTTAACAGATGGGGAAATGGGGTTCCAGAGAGCGCCTATGTGAGGTAGAAATAAAAGGAGGGGAAGCTCCTGAAGAAGAGACAGGGGGCAAAGACATGGGCAGGGAGGGGAGTGGGGCCCATGGAGGAGAGGGTGGGCTCACAGCTGCCCCTCCACTCCCCAGGGCACAGACACCACCATGTTACACAAGCTGAACTCCCAGCACAAGCTCAACGCCAACTACATCCCCCCCCAAGAACAACCATGAGACCCAGTTTGGCATCAACCATTTTGCAGGCATCGTCTACTATGAGACCCAAGGTACAGAGGGCTGCCGGCTGTCTGTCACTCCCTGCCCGTGGCCCTGCCTTCCCCTGCTCCAGCCCAGGAATAAGATATCCGGAATTTTAAAGATTTTTAAAAATTGTGATTATTCATATATATATATATATGAACTTGACTAAAATGGCCAAGTGTTGGATTCAGTGGCACTAAGTACTTCACAGTGCTGTGCATCCAGTACTGCTATCTATTTCCAGGGCTTTCTCACCGCCCCAAACAGAGGCTCTGCAAGCATGGGGCAGTAACTCCTTCCCCTACCCCCGGCCCCCTGTAACCTGTGTTCTACTTTCTGTCTGTGAGTTTGACTATTCTAGGTACCTCATATAAGTGGAATCATATGCTATGGCCATACATCGTTTAACGTCATTTCTGAGAATGTGTCGTTAGGCAATTTGGTCATTGTCAATCATTGTAGAGTGTAGTTATACACCTAGATGGTCCAGCCTACTACATAGCTAGGTTATCTGGTATGGCCTATTGCCCTCAGGCTACAGACCTGTACAGCATGTTCTTGTACTAAATACTGTAGGCAGTTGTGACAGAATGGTAAGTATTTGTGCATTTAAACATAGAAAAGGTAAAGTAAAAATACGTCATTACCATCTTAGCCACCACTATTGTATCTGCAGTTGGCTGAGATGTCATTCTGTGGTGAAGACGTGACTGTATTTGTCCTTTTGTGTCTGGCTTGTTTCATTCAGCGTAATGTCTTTAATTTTCATCCACGTTGTAGCATGTATCAATTGCCCTCATTTTTATGGCTGAATAGTATTTCGTTGTGTGGATAAACCTTTTGTTTATCCATTTATCTGCTAATGGACTTTTGGGGTTGTTTCTACCTTTTGACTTTTGTGAATAGTGCTGCTCTGAACACTTGTGTACAAATATCTGTTCGAGTCCCTGCTTTCAATTCTTTTGGATGGGCTCAATGCTTGTTTGCACATTTAGGGAAACTGAGGCTCAGAACAAGGTGGGGGGGGCTTGACTGTCCTTACCTGATACAACATAGCCCATTAGGCTCAAAGTCAGGCCTCGAACCAGCCCAGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCT | pathogenic | 181,110 |
Evaluate the clinical significance of the mutation at chromosome 11, position 77166102 in gene MYO7A (myosin VIIA): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Retinal_dystrophy'] | AGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTTATTTATGATGTGGATTTATGAAGTGGGTGGTATTAGGTGTTCTGAAGAGAAGCAAGCTTGTAGGCACTATCCTTCCCATCCAACAGTTAAGGAAACTGGAGTCCCAGAATGGGGGTCTTTCTAGGATAACATAGTGAGTCTGTCAGAGCTTTAGTGAGAACCCAATTACATCCCAACTGCAAAGCCCACCCTCCATTCCTGTGTGTCCCCTGCAACTCGCCCCTCCCCAGGTGCCAGGCGGGCAGCCTAGCACTGGATCTCTGTGCTGTCCGCCATTCATGGGCAGCCTATGTCCTGCTCTGTGCAGTGGCACTCCCCCTCTGGCATCTGCAGTCCTTGGACACCCCGTCTCTTGCCCCACTCTACAACCCCCTCCCCATTAACCAGTTTCCAACTCCTCGGTCCCTGTGAGTGGCAGCCTCCTCTGGGGTCTGTGTGGTGCAGGGGAATCTCCCTAGGCTCCTGGGGATCCTGGGTTCTGGGTGCAGAGAATCTCCTTTGCACCAGCGTCCTGGGTTCAAGTCTTAACTCTGCCCATGGCTTACTGTGTGACATTAGACAACTCACTTAGCTTCTCTGAACATCAGTTTTCTCCCTTTGGGGGCAGAGGAGGTAATCCCTACCTGTCCCACATAGAAGGAGCTGTGAGGGGTCTTCATAAAACATAACACACTGTCCAACCACAAGGTGGTTTTAATGAATTCCTTTAATATTAGCTTGTACCAGATCAACATGCATTCTCTCCCAGGTGACACACTTACTTAACAAGGCCTTTTGATATCTTAGTTCAAAAGACTCATGGTAGCTTTGGGGTGGTTGGTCAGGAAGGAGGCCTGCTTTCTCCTGGAGACTGAGACCCCCCTGCCCTTCTTGAACAGGCCTGGAAGAGGGGAGCTGTGTCACTGGGGAGATGGCCCCTCACTTTCTCTATGATCTTGGGCAAGTCTCTGTCCCCTCCAGGCCTCAGGGCCCCCGTCATGAAATGGATGTGGTGGAACTAGGTGGATTTTGAGGGTCCTCCTGGCTCAGATGTTATGGGTTTGGGGAGGGCCTGCCAGAGCTGGTGAGAGGTGACTGCTGTTTGCTGCTTGCAGGCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTGGTCCACTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATGGTAAGCCGGGTGCGGTTTCTGTTGTTCGGGAAGGGCCCCCACGGGCCAGGCCTGAGTCTAAGCCCTGCCCTTGTCCAACAGCTTCAGCTGAGCCCCCTGGCCACATAATGGGTATGGAGCTTTGCTGTGGCTCCAGGAGGGGCCTGGAGGGGCCTCAAAGGTGTTCCCATCTGGTCCTCTTATTGTACTAACTGGGGATATGGCTGGGGTGCAAGGCCCAGAGAAGGGTCACCTGAGAGGTCACAGAGCAGAACCGGTCAGGGATCGGTTTACTGTGGGGGTTCACCCCCTGGAATCCAGCTGCTAAAGAGAGCATGGGCAGAAAGAGCACATCCAGCTTGAAGGATGTGGGGTGGGTGTGGATACTCAGAGAAGCTGGCACAGAGGGCATGTCTGTGCCAGCCCCAGACCCCATCAGACAGTGGGAGAACAGCCCCCTCCGCCTTTCCTTAGGCCCTAGGGTGAGGGTCTAGTGGATTTTTTCCTGCTGGGTTGCATGCCTTTTTATTTCATATTTTCCTCCTGTCCCATGGCTTCCTGGAGGGTGCATGAAGTCCTCACGCAGAAGACAGTCCTTGCCCCTTCCATGCCTGTCTAGGTGCCTGGCTGTCCCCTGCCCTCAGGACCACCAAGGCATCACAGAGCTTCCAGGACCCCAGACCTCTCCCTGAGGGTCCCCCTCTCTCCATGGTGGATTTTGAGTGGTTTTGTGACCCACCACATTCTCCTTGCCCCTCCTCTCCCCATCTCACCCTGCACCGTGGTTCCTGTTGTAGTTTCTCTGTGGTTATTCATCGGGTACTCTGCGCCACTCAGCAGCTGCTGCGAAGGTAAAAGACCCCAGCCCGGGGCTGAGGATGGCGGGAGAGGCCTCAGCGGCCTGGGTGGGGCTTGGTCCCGAGCTCCCACTGTGCTGAGACTCGGGAAAAGGGCTGGGCTTTTTCTCCTTTTTTTTGGAGTGTGTTTTTGTGTGGAGTGGTTTGTGGAGTGATTTTTGTGTTTGGTTTTTGAGTTGTGTGTGCTGCAGGCATTTCTTTCTTCAAGGAGGAAACTGAGTCCTAGGAGAGGGGCAAGGCTTGCCCAGGGTCCTCTGGGAACCGGGGACAGAGTGGGGACTCGAACGCAGGTCTCCTAAGGCCCCTTGGAGGCGTCAATCCCCGGTCCTTCCACCAGGCCCTGGTGGGCGCCTATGGCCATGCCTTGACCAGATCCTCAGATAACCTTGCAAGGCAGGAGGGACAGGTAGCATTTTCTGCATTTTGCAGATGAGAGACTGAGGCTGAGAGAGGGGATATGACTCATTCCAGGTAACAGCATTCTGACAGGGAGCTGGGACTAGGAGACACCATTCCCCGGACCTCCTTAGGTCTGAAACAGCAGCCCTGTTGCATCCTGAACTCTGGTTCAGGCCGTGGCTCCCACGGTGCTCTAGACCCCAAAGGTGCTGGGTACCCCTTAGCAACAGCATGGTGCTGCCAACCCCTTTGCCTCCTTTTCTCTCCTCAGCCCTCCATTTCCTCTCTGCCAAATACTGACATCCTTCCACTTTGGCCTGGTGCTGAGTCCTTCTTCCTTCCTGCCTGCCTGGCAGAGTTCTGAAACAATCCACACACCCCCAGCAGTAGACAGGGCATGTCAGGAGCAAGGAGCTTGTCTGGATGGTGGCCTCTCCCCTCTGCCCACAGATCAGCCCTGGAAGAACCTCCCGCCCCCACTCACCCTGACAGACCAACACTGTAGGCTGGCCGACTGCTGGGGTGCACACAAGGCCAACCTGAGAGAGGGGAGTCCCAGGCACTCGAAGCACTGGCACCCAGGAGAGTCCCCACCCGAAAGCCCTGTGCTGTAAGGTGGCTGTACTGCTGAGACGGGCGTAGCTCTGGCCTCTCCCACTCTTTCCTCTTCTCCTGTAGCCCTGCTGGCCCCTCGCTGGGCCCATCCATTCCTCCTGGTCTTGGGCATACTCTGGTTAAACCCCATCTTCCCC | AGTTACCCCCTAAGACTCTCAGCAACAAGACCAAGCATGAGCTTTGAAGACCGTGCATCTTCTTTTCCCCTGGGGACAGGCAATTGGGTTCACGTTAAAGCTGGAAGTTAAGAAGAGTGGTCAGAACACAGGCTTATCTCACCTGGAATTCTTAAGGGTTTGTCAAAAGACTGCAGACTGCCCTTGCCAATCCCTCCCCACCCACCCTGGTGTAAAGGGCCAACCACAAATTGGCATTAGTTATGGGCTGTGTCTACCCTGAGCCCTGCCATACAGCCTCAAGGGGTCCCATGCATAGTCAAAGGCCAATTAACCCATAAATATCTATACCTACTATGTACCACAAAAAATTAAAAATTAATTTTTTTTTAAAAAAGGCCAAAGATATCCAAACATGCTATAACCCATCCGTTTCTTACTCCGTTGCTGAACTGGTCCAGAAGTCAGCAGTGTATCAGTGAGCCAGGCTGCAGTGGTAGAATCTGATGGCGGCTCAGATTCCCTTACAATATTGGACTGTGAGATCCAACCTTATTGTTGGAAGAAGGAAGCAGACATTAAGTTTGAAGGACTGTCACGCAAACAAATTGGTCTTTCATTTGGAGTAATAGAGGATTGTATTTCTCAGTTCAGTTCAACCAATATGCTCTTAGCATCTATTATGTACCAGGCTTCATGACGTTGCTGAGGATACAGAAGTGAAAATTGAATAATCTCTATGCTGAGTTGTAAAACTATAGAACGCCAGGTCTGGAGGGAACATAAGGGTCATCTACCTTAATAGAATTGGTAACTGAAGCCCAGAAAGGGAAATGGCTTGCCTAAGGTTGTTAAACAAGACTAAATGACTGGAAAGAATTCTACCAGCATTTTCTAGTTCACAAAGAACCTTTTCAATACAGCGTCTTATTTATGATGTGGATTTATGAAGTGGGTGGTATTAGGTGTTCTGAAGAGAAGCAAGCTTGTAGGCACTATCCTTCCCATCCAACAGTTAAGGAAACTGGAGTCCCAGAATGGGGGTCTTTCTAGGATAACATAGTGAGTCTGTCAGAGCTTTAGTGAGAACCCAATTACATCCCAACTGCAAAGCCCACCCTCCATTCCTGTGTGTCCCCTGCAACTCGCCCCTCCCCAGGTGCCAGGCGGGCAGCCTAGCACTGGATCTCTGTGCTGTCCGCCATTCATGGGCAGCCTATGTCCTGCTCTGTGCAGTGGCACTCCCCCTCTGGCATCTGCAGTCCTTGGACACCCCGTCTCTTGCCCCACTCTACAACCCCCTCCCCATTAACCAGTTTCCAACTCCTCGGTCCCTGTGAGTGGCAGCCTCCTCTGGGGTCTGTGTGGTGCAGGGGAATCTCCCTAGGCTCCTGGGGATCCTGGGTTCTGGGTGCAGAGAATCTCCTTTGCACCAGCGTCCTGGGTTCAAGTCTTAACTCTGCCCATGGCTTACTGTGTGACATTAGACAACTCACTTAGCTTCTCTGAACATCAGTTTTCTCCCTTTGGGGGCAGAGGAGGTAATCCCTACCTGTCCCACATAGAAGGAGCTGTGAGGGGTCTTCATAAAACATAACACACTGTCCAACCACAAGGTGGTTTTAATGAATTCCTTTAATATTAGCTTGTACCAGATCAACATGCATTCTCTCCCAGGTGACACACTTACTTAACAAGGCCTTTTGATATCTTAGTTCAAAAGACTCATGGTAGCTTTGGGGTGGTTGGTCAGGAAGGAGGCCTGCTTTCTCCTGGAGACTGAGACCCCCCTGCCCTTCTTGAACAGGCCTGGAAGAGGGGAGCTGTGTCACTGGGGAGATGGCCCCTCACTTTCTCTATGATCTTGGGCAAGTCTCTGTCCCCTCCAGGCCTCAGGGCCCCCGTCATGAAATGGATGTGGTGGAACTAGGTGGATTTTGAGGGTCCTCCTGGCTCAGATGTTATGGGTTTGGGGAGGGCCTGCCAGAGCTGGTGAGAGGTGACTGCTGTTTGCTGCTTGCAGGCTTCCTGGAGAAGAACCGAGACACCCTGCATGGGGACATTATCCAGCTCCTCCAGGAACAAGTTCATCAAGCAGATCTTCCAGGCCGATGTCGCCATGGTAAGCCGGGTGCGGTTTCTGTTGTTCGGGAAGGGCCCCCACGGGCCAGGCCTGAGTCTAAGCCCTGCCCTTGTCCAACAGCTTCAGCTGAGCCCCCTGGCCACATAATGGGTATGGAGCTTTGCTGTGGCTCCAGGAGGGGCCTGGAGGGGCCTCAAAGGTGTTCCCATCTGGTCCTCTTATTGTACTAACTGGGGATATGGCTGGGGTGCAAGGCCCAGAGAAGGGTCACCTGAGAGGTCACAGAGCAGAACCGGTCAGGGATCGGTTTACTGTGGGGGTTCACCCCCTGGAATCCAGCTGCTAAAGAGAGCATGGGCAGAAAGAGCACATCCAGCTTGAAGGATGTGGGGTGGGTGTGGATACTCAGAGAAGCTGGCACAGAGGGCATGTCTGTGCCAGCCCCAGACCCCATCAGACAGTGGGAGAACAGCCCCCTCCGCCTTTCCTTAGGCCCTAGGGTGAGGGTCTAGTGGATTTTTTCCTGCTGGGTTGCATGCCTTTTTATTTCATATTTTCCTCCTGTCCCATGGCTTCCTGGAGGGTGCATGAAGTCCTCACGCAGAAGACAGTCCTTGCCCCTTCCATGCCTGTCTAGGTGCCTGGCTGTCCCCTGCCCTCAGGACCACCAAGGCATCACAGAGCTTCCAGGACCCCAGACCTCTCCCTGAGGGTCCCCCTCTCTCCATGGTGGATTTTGAGTGGTTTTGTGACCCACCACATTCTCCTTGCCCCTCCTCTCCCCATCTCACCCTGCACCGTGGTTCCTGTTGTAGTTTCTCTGTGGTTATTCATCGGGTACTCTGCGCCACTCAGCAGCTGCTGCGAAGGTAAAAGACCCCAGCCCGGGGCTGAGGATGGCGGGAGAGGCCTCAGCGGCCTGGGTGGGGCTTGGTCCCGAGCTCCCACTGTGCTGAGACTCGGGAAAAGGGCTGGGCTTTTTCTCCTTTTTTTTGGAGTGTGTTTTTGTGTGGAGTGGTTTGTGGAGTGATTTTTGTGTTTGGTTTTTGAGTTGTGTGTGCTGCAGGCATTTCTTTCTTCAAGGAGGAAACTGAGTCCTAGGAGAGGGGCAAGGCTTGCCCAGGGTCCTCTGGGAACCGGGGACAGAGTGGGGACTCGAACGCAGGTCTCCTAAGGCCCCTTGGAGGCGTCAATCCCCGGTCCTTCCACCAGGCCCTGGTGGGCGCCTATGGCCATGCCTTGACCAGATCCTCAGATAACCTTGCAAGGCAGGAGGGACAGGTAGCATTTTCTGCATTTTGCAGATGAGAGACTGAGGCTGAGAGAGGGGATATGACTCATTCCAGGTAACAGCATTCTGACAGGGAGCTGGGACTAGGAGACACCATTCCCCGGACCTCCTTAGGTCTGAAACAGCAGCCCTGTTGCATCCTGAACTCTGGTTCAGGCCGTGGCTCCCACGGTGCTCTAGACCCCAAAGGTGCTGGGTACCCCTTAGCAACAGCATGGTGCTGCCAACCCCTTTGCCTCCTTTTCTCTCCTCAGCCCTCCATTTCCTCTCTGCCAAATACTGACATCCTTCCACTTTGGCCTGGTGCTGAGTCCTTCTTCCTTCCTGCCTGCCTGGCAGAGTTCTGAAACAATCCACACACCCCCAGCAGTAGACAGGGCATGTCAGGAGCAAGGAGCTTGTCTGGATGGTGGCCTCTCCCCTCTGCCCACAGATCAGCCCTGGAAGAACCTCCCGCCCCCACTCACCCTGACAGACCAACACTGTAGGCTGGCCGACTGCTGGGGTGCACACAAGGCCAACCTGAGAGAGGGGAGTCCCAGGCACTCGAAGCACTGGCACCCAGGAGAGTCCCCACCCGAAAGCCCTGTGCTGTAAGGTGGCTGTACTGCTGAGACGGGCGTAGCTCTGGCCTCTCCCACTCTTTCCTCTTCTCCTGTAGCCCTGCTGGCCCCTCGCTGGGCCCATCCATTCCTCCTGGTCTTGGGCATACTCTGGTTAAACCCCATCTTCCCCNNNNNNNN | pathogenic | 181,118 |
Does the chromosome 11 mutation at position 77172741 within gene MYO7A (myosin VIIA) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome', 'Usher_syndrome_type_1'] | TTCACTAACTCCCCAGTCCCAGGGGAGGTTGGCCTGGAATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACGCATCCTGTCCTCATGGGGCTCCCAGCCCAGCAGGGAGGACGGGCAGAAAGCAGTCGTTTTATTGTGATGACCAAGACCAAAGAAGGGTGTGCGTGCGCGTGTGTGTACACGCGGTGGTATGCGTGTGCTCCTAGTGGCGTGTGTATGTGCATGCTGAGGTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGCATGCGTATGCGTGTACTCATGTCAGGGGCCCTAATGCAGGCTGGGTACAGCCCAACTTGGACAGCTCCCCTCCAGTGACCGGGGTCACCCGGTGCTGCTGCTGGATCAAATTGAGGACAACGCCAGGGGCCACAGATCTGACCACCACCCTACCGCATTGCAAATACTCCCCAGCTTCTCTGGGCAAAGTCCTAGAATATATTCCAAATACAATGCAGTTGGAAAGCATTGCAGATTTCAGAATCGCAGGCACTGGCTCTTTCTCGGAAGGCCTCATCACAGTCTGGTGGCATAGTACCTAAATTGAGTATGAGCACAACACCTTTGTCCCCCCAAATACCTCACATATCTACATCTACACCCCTGGTTTTTGATGCTACAGGATATCAGATGAAATGATGACTCTAAAAATATAAAAATCTTGCAATATTAATCAAATGAAGTCAAGTAAAATAAGAAATTCTCAACCAAATGAAAATTGCCAGGAAAACACTAATCAAGATGCTTTGGAACAAAACCTAAGCTCTGTGTCCAGTTCCCATCAGTCCTGCCATTTGGCTTCCTGTTTGTTTGCGGCTCAGGGCTTCCCCCACCTCATTTCACAGTATTCTCAGAGGGGACCCCAGTAGGGCAGGGAGGCGCAGGGGGCTCGCTGGCTGCCAGGATCGCCCAGGTGTGGCTGGTGGAGCACAGAACCCCTGGCTGCGTCGGAGCCACAGTGCGGGGGGTTAGGAGGAGGCTGCTTGTGTGCCTTCTTAGGAGGATTAGCCAGGCCTGCCCCGCCCCCAGCCTGCTGCTGCCGGCTAAGCCTGGGAGGGGAGAGGTCACCGGCAGCTCCCGCCCCTCCTCCTCGCGCTTGCCCACAGGTTTCCAGAAGGCGGCACCACCTTTCTAGGTTGCTGTTTACTGAAATATGCCCTGACCTCTGACCCTTGTCACAGCCTGGTCAGATGGATAGATGGCATCACCTCCACTTAGGAAACTGAGGCTCTGCAACATTTAGTGACCTGCCCAAGGGCACACAGCTAGGAAGTGGTGGGCCAGGGCTTGAATCTAGGTTCGTCTAACCCCTGTCTCTAGAGATGACCTCAGTGTCCTGAGGTGACCAAGTCCGATTACTCCTTTATACAGGGAAGGGAGGGATGAGACTCAGGGGCTGCCCCTTGCTCAGAGTTATCCAGCGCACCAGGTGCAGGGGCAGGCTTGAGACTCCCAGTGCGGAGATCTTCCTGTAGGGTTCACTTCCCCCTCGCCCAGAGGTGGTAACTTTGGAAGTCCTGGGAGGCTTCCTGGAGGAGGTATCTGGAGTCCAGGCTCCAGCTCAGAAGGTGGGGAGAGGCAGTTTGCAGGAAAACTTCAAATACCGCCCTGTCCCTCAAACCCTGACCCCGCTGACCTCCCCTCCCGCTTCCTACTGGGCGGCTCCTGGGACACTGGATGGGGCAGGCACAGCCCCTCCCATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTG | TTCACTAACTCCCCAGTCCCAGGGGAGGTTGGCCTGGAATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACGCATCCTGTCCTCATGGGGCTCCCAGCCCAGCAGGGAGGACGGGCAGAAAGCAGTCGTTTTATTGTGATGACCAAGACCAAAGAAGGGTGTGCGTGCGCGTGTGTGTACACGCGGTGGTATGCGTGTGCTCCTAGTGGCGTGTGTATGTGCATGCTGAGGTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGCATGCGTATGCGTGTACTCATGTCAGGGGCCCTAATGCAGGCTGGGTACAGCCCAACTTGGACAGCTCCCCTCCAGTGACCGGGGTCACCCGGTGCTGCTGCTGGATCAAATTGAGGACAACGCCAGGGGCCACAGATCTGACCACCACCCTACCGCATTGCAAATACTCCCCAGCTTCTCTGGGCAAAGTCCTAGAATATATTCCAAATACAATGCAGTTGGAAAGCATTGCAGATTTCAGAATCGCAGGCACTGGCTCTTTCTCGGAAGGCCTCATCACAGTCTGGTGGCATAGTACCTAAATTGAGTATGAGCACAACACCTTTGTCCCCCCAAATACCTCACATATCTACATCTACACCCCTGGTTTTTGATGCTACAGGATATCAGATGAAATGATGACTCTAAAAATATAAAAATCTTGCAATATTAATCAAATGAAGTCAAGTAAAATAAGAAATTCTCAACCAAATGAAAATTGCCAGGAAAACACTAATCAAGATGCTTTGGAACAAAACCTAAGCTCTGTGTCCAGTTCCCATCAGTCCTGCCATTTGGCTTCCTGTTTGTTTGCGGCTCAGGGCTTCCCCCACCTCATTTCACAGTATTCTCAGAGGGGACCCCAGTAGGGCAGGGAGGCGCAGGGGGCTCGCTGGCTGCCAGGATCGCCCAGGTGTGGCTGGTGGAGCACAGAACCCCTGGCTGCGTCGGAGCCACAGTGCGGGGGGTTAGGAGGAGGCTGCTTGTGTGCCTTCTTAGGAGGATTAGCCAGGCCTGCCCCGCCCCCAGCCTGCTGCTGCCGGCTAAGCCTGGGAGGGGAGAGGTCACCGGCAGCTCCCGCCCCTCCTCCTCGCGCTTGCCCACAGGTTTCCAGAAGGCGGCACCACCTTTCTAGGTTGCTGTTTACTGAAATATGCCCTGACCTCTGACCCTTGTCACAGCCTGGTCAGATGGATAGATGGCATCACCTCCACTTAGGAAACTGAGGCTCTGCAACATTTAGTGACCTGCCCAAGGGCACACAGCTAGGAAGTGGTGGGCCAGGGCTTGAATCTAGGTTCGTCTAACCCCTGTCTCTAGAGATGACCTCAGTGTCCTGAGGTGACCAAGTCCGATTACTCCTTTATACAGGGAAGGGAGGGATGAGACTCAGGGGCTGCCCCTTGCTCAGAGTTATCCAGCGCACCAGGTGCAGGGGCAGGCTTGAGACTCCCAGTGCGGAGATCTTCCTGTAGGGTTCACTTCCCCCTCGCCCAGAGGTGGTAACTTTGGAAGTCCTGGGAGGCTTCCTGGAGGAGGTATCTGGAGTCCAGGCTCCAGCTCAGAAGGTGGGGAGAGGCAGTTTGCAGGAAAACTTCAAATACCGCCCTGTCCCTCAAACCCTGACCCCGCTGACCTCCCCTCCCGCTTCCTACTGGGCGGCTCCTGGGACACTGGATGGGGCAGGCACAGCCCCTCCCATCGCTGCCGTCCGTCATCGGCTGCTGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTG | pathogenic | 181,123 |
Does the variant impacting MYO7A (myosin VIIA) on chromosome 11, position 77172778, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | AATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACGCATCCTGTCCTCATGGGGCTCCCAGCCCAGCAGGGAGGACGGGCAGAAAGCAGTCGTTTTATTGTGATGACCAAGACCAAAGAAGGGTGTGCGTGCGCGTGTGTGTACACGCGGTGGTATGCGTGTGCTCCTAGTGGCGTGTGTATGTGCATGCTGAGGTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGCATGCGTATGCGTGTACTCATGTCAGGGGCCCTAATGCAGGCTGGGTACAGCCCAACTTGGACAGCTCCCCTCCAGTGACCGGGGTCACCCGGTGCTGCTGCTGGATCAAATTGAGGACAACGCCAGGGGCCACAGATCTGACCACCACCCTACCGCATTGCAAATACTCCCCAGCTTCTCTGGGCAAAGTCCTAGAATATATTCCAAATACAATGCAGTTGGAAAGCATTGCAGATTTCAGAATCGCAGGCACTGGCTCTTTCTCGGAAGGCCTCATCACAGTCTGGTGGCATAGTACCTAAATTGAGTATGAGCACAACACCTTTGTCCCCCCAAATACCTCACATATCTACATCTACACCCCTGGTTTTTGATGCTACAGGATATCAGATGAAATGATGACTCTAAAAATATAAAAATCTTGCAATATTAATCAAATGAAGTCAAGTAAAATAAGAAATTCTCAACCAAATGAAAATTGCCAGGAAAACACTAATCAAGATGCTTTGGAACAAAACCTAAGCTCTGTGTCCAGTTCCCATCAGTCCTGCCATTTGGCTTCCTGTTTGTTTGCGGCTCAGGGCTTCCCCCACCTCATTTCACAGTATTCTCAGAGGGGACCCCAGTAGGGCAGGGAGGCGCAGGGGGCTCGCTGGCTGCCAGGATCGCCCAGGTGTGGCTGGTGGAGCACAGAACCCCTGGCTGCGTCGGAGCCACAGTGCGGGGGGTTAGGAGGAGGCTGCTTGTGTGCCTTCTTAGGAGGATTAGCCAGGCCTGCCCCGCCCCCAGCCTGCTGCTGCCGGCTAAGCCTGGGAGGGGAGAGGTCACCGGCAGCTCCCGCCCCTCCTCCTCGCGCTTGCCCACAGGTTTCCAGAAGGCGGCACCACCTTTCTAGGTTGCTGTTTACTGAAATATGCCCTGACCTCTGACCCTTGTCACAGCCTGGTCAGATGGATAGATGGCATCACCTCCACTTAGGAAACTGAGGCTCTGCAACATTTAGTGACCTGCCCAAGGGCACACAGCTAGGAAGTGGTGGGCCAGGGCTTGAATCTAGGTTCGTCTAACCCCTGTCTCTAGAGATGACCTCAGTGTCCTGAGGTGACCAAGTCCGATTACTCCTTTATACAGGGAAGGGAGGGATGAGACTCAGGGGCTGCCCCTTGCTCAGAGTTATCCAGCGCACCAGGTGCAGGGGCAGGCTTGAGACTCCCAGTGCGGAGATCTTCCTGTAGGGTTCACTTCCCCCTCGCCCAGAGGTGGTAACTTTGGAAGTCCTGGGAGGCTTCCTGGAGGAGGTATCTGGAGTCCAGGCTCCAGCTCAGAAGGTGGGGAGAGGCAGTTTGCAGGAAAACTTCAAATACCGCCCTGTCCCTCAAACCCTGACCCCGCTGACCTCCCCTCCCGCTTCCTACTGGGCGGCTCCTGGGACACTGGATGGGGCAGGCACAGCCCCTCCCATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCC | AATGTGGGGGATGGAAGCAAAGAGACGAGTTGGGGGGTTGCTGCAGGAATTTGAGAGCAATGCTGGTGGCTGGGACCAGGCTGACGGTGGAGGAAGTGGTGAGGGGTCAGGTTCTGGAGATATTTTGAAAGTAGAGCCTGTAGGATTTGCGGATATATTAGATGTGACAGAAGAGGCACTGAGGACAGTTGCTAGATGTTTGGCTGGAGCAACGGGAAGGTGGGCAATTTCTGTGAACCCATGGATGTCACTAGGAACCAGTTCAACAGCACTTCAGTAGATCAAAGTGTTGACTGTTACTTGTGTCATGTAGGCCCTGGCCATGCAGCAATAAAGAGGCAGACGCATCCTGTCCTCATGGGGCTCCCAGCCCAGCAGGGAGGACGGGCAGAAAGCAGTCGTTTTATTGTGATGACCAAGACCAAAGAAGGGTGTGCGTGCGCGTGTGTGTACACGCGGTGGTATGCGTGTGCTCCTAGTGGCGTGTGTATGTGCATGCTGAGGTTGTGTGTGTGTTGTGTGTGTGTGTGTGTGCATGCGTATGCGTGTACTCATGTCAGGGGCCCTAATGCAGGCTGGGTACAGCCCAACTTGGACAGCTCCCCTCCAGTGACCGGGGTCACCCGGTGCTGCTGCTGGATCAAATTGAGGACAACGCCAGGGGCCACAGATCTGACCACCACCCTACCGCATTGCAAATACTCCCCAGCTTCTCTGGGCAAAGTCCTAGAATATATTCCAAATACAATGCAGTTGGAAAGCATTGCAGATTTCAGAATCGCAGGCACTGGCTCTTTCTCGGAAGGCCTCATCACAGTCTGGTGGCATAGTACCTAAATTGAGTATGAGCACAACACCTTTGTCCCCCCAAATACCTCACATATCTACATCTACACCCCTGGTTTTTGATGCTACAGGATATCAGATGAAATGATGACTCTAAAAATATAAAAATCTTGCAATATTAATCAAATGAAGTCAAGTAAAATAAGAAATTCTCAACCAAATGAAAATTGCCAGGAAAACACTAATCAAGATGCTTTGGAACAAAACCTAAGCTCTGTGTCCAGTTCCCATCAGTCCTGCCATTTGGCTTCCTGTTTGTTTGCGGCTCAGGGCTTCCCCCACCTCATTTCACAGTATTCTCAGAGGGGACCCCAGTAGGGCAGGGAGGCGCAGGGGGCTCGCTGGCTGCCAGGATCGCCCAGGTGTGGCTGGTGGAGCACAGAACCCCTGGCTGCGTCGGAGCCACAGTGCGGGGGGTTAGGAGGAGGCTGCTTGTGTGCCTTCTTAGGAGGATTAGCCAGGCCTGCCCCGCCCCCAGCCTGCTGCTGCCGGCTAAGCCTGGGAGGGGAGAGGTCACCGGCAGCTCCCGCCCCTCCTCCTCGCGCTTGCCCACAGGTTTCCAGAAGGCGGCACCACCTTTCTAGGTTGCTGTTTACTGAAATATGCCCTGACCTCTGACCCTTGTCACAGCCTGGTCAGATGGATAGATGGCATCACCTCCACTTAGGAAACTGAGGCTCTGCAACATTTAGTGACCTGCCCAAGGGCACACAGCTAGGAAGTGGTGGGCCAGGGCTTGAATCTAGGTTCGTCTAACCCCTGTCTCTAGAGATGACCTCAGTGTCCTGAGGTGACCAAGTCCGATTACTCCTTTATACAGGGAAGGGAGGGATGAGACTCAGGGGCTGCCCCTTGCTCAGAGTTATCCAGCGCACCAGGTGCAGGGGCAGGCTTGAGACTCCCAGTGCGGAGATCTTCCTGTAGGGTTCACTTCCCCCTCGCCCAGAGGTGGTAACTTTGGAAGTCCTGGGAGGCTTCCTGGAGGAGGTATCTGGAGTCCAGGCTCCAGCTCAGAAGGTGGGGAGAGGCAGTTTGCAGGAAAACTTCAAATACCGCCCTGTCCCTCAAACCCTGACCCCGCTGACCTCCCCTCCCGCTTCCTACTGGGCGGCTCCTGGGACACTGGATGGGGCAGGCACAGCCCCTCCCATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATC | pathogenic | 181,127 |
Gene mutation in MYO7A (myosin VIIA) at chromosome 11, position 77174772—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rare_genetic_deafness'] | CATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTT | CATCGCTGCCGTCCGTCCCCCCAGGGCGCCGAGACCAGGAAGCGCTCGCCCACACTTAGCAGCCAGTTCAAGCGGTCACTGGAGCTGCTGATGCGCACGCTGGGTGCCTGCCAGCCCTTCTTTGTGCGATGCATCAAGCCCAATGAGTTCAAGAAGCCCATGGTGAGTGGCCCTGGCCTGGGGTTGGCGGGTGGCGGCTAGGGTGACGTGGAGGAGCTAGGTCAAGAATAAGGTAGGGTGGGAGTGAAGGATGTGAGACTTTGTCCCTTTGGGGAATGGGGGGCACCCCGGGAGCTTACAAAACAAGGCCCCCTATTTATTGGAGGCAGCAGGTGCCTTGGAAAGAGCCTAGACTCTGCGGGGGGTTGCAGCAGGTTCAGATCCTGCCTCTACCATGTACAAGTGGGCGACTGCAGACAAAGCAGTTTCTTCTCTTATGCCTCAGTTTCCTCATAGATGGAAACGGGACTGACCGTATCTACCTCCTAAGGCTATTCCATGCAGTAATGCTTGCAGATGCCCACACCCAGCAAGTGCCCAGTGATTGGCAGCTGTGGTTCTTGCTGGGGCTGCTTCTTTGAAAGTCCCCTTCTCCTTTGGCCCAGCTCAACCACCACCTCCTCCTGGAAGCCTCCCCCATCTCTTCAGCTGGTTGGGATATCCTCATTCTTGACTTTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTAGGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGG | pathogenic | 181,133 |
Is the genetic mutation found on chromosome 11 at position 77175447, within the gene MYO7A (myosin VIIA), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Rare_genetic_deafness'] | TTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATGGAGGTGTTCAATTCATATATATTAAGTGAACCAATGAAGTTTTGTCCAACTACAGTGAGGGTTGGGGTCTTGGATGAGGAGGAGAGAGGGCTGAAAAAGTTGGCAGACACCCTGGATCATGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGC | TTTCTGAATAACATTTGTTGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATGGAGGTGTTCAATTCATATATATTAAGTGAACCAATGAAGTTTTGTCCAACTACAGTGAGGGTTGGGGTCTTGGATGAGGAGGAGAGAGGGCTGAAAAAGTTGGCAGACACCCTGGATCATGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCN | pathogenic | 181,153 |
The mutation in gene MYO7A (myosin VIIA) at chromosome 11, position 77175465—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | TGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGTGAGCACAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATGGAGGTGTTCAATTCATATATATTAAGTGAACCAATGAAGTTTTGTCCAACTACAGTGAGGGTTGGGGTCTTGGATGAGGAGGAGAGAGGGCTGAAAAAGTTGGCAGACACCCTGGATCATGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGA | TGGGCCCTTTCTGTGTGCCCAGCATAGGCTGGATGGTCAGTCCACAGCCTCCTTCAACCTTCTCAAACAGCCCGTGAGAAAGGGACTGTGCTGGTCCCAGGTTAGAGATGCGGGACTGGGGGCTCAGGGAGGTTAAGGGGCTCAGGCTGGGGCCACCTCGCTGCGAGCCCTCTCCTTTCGCAGCACAGGCTCTGGGAGGGTTGTTTACCCAGAGGCCTGCAGGGAGGCACAGGGGGAAGCTGGGGCCTCGGGATCTGGGGAGGGAAGGAAGGCCGGGGAAAGTGGCCCGGAGAGAGAGGAAACAGTCTCCGGAAGCTGACAGGCTGCAAGACCGTCCCCTCCTGCTGCCTCCTGCCTGGAAAACATGTCCCAGAGTGGATGAGGCCTGTCCCCTTTAGGACTCAGGTCTGCAGGGGCCTGAGGGTCGCAGAGGGCTCCAGTGAGCTCTCCCTCTAATGCAGGGGGTGCAGGGGACTGACACCAGGGCAGTCGGGCACAGTCTTCCCTGGCTCTGAAGTGGGACCCTTCCCTCGGCCCAGTCCTCAGCATCTGTGGACTGGGCCTTGGCAATAGCCTCCTCAAGGGTCTCCTGCCTCCCTTGCCTCCTGTCCTGCCTCCCCTGGCCCCCAGTGACATTGTTCTCAAATGCAGACCTGGCCCAGTCTCTCCCTGCTCTAAAACTTCCCTGGCTTCCAGCATCCATGGATGAGGCCCTCACAGAGCCCCACAGCCTCACAGCCCAGCACCTGCCTTCTACTCTTTCTCCCCAGCCCCTCCACCAACCAAACCCCAGGGCCCTTTGAAAAATGTGCCTCTTCCTTAAGGCAGCTAGAAAGTTGTCTGAATAACCGCAGATCTACAATACCTGCAACGTGAAAGGTCCTCCCTGGGGCTGTGCAGAGCACCCCTCACCTGCACAGCCATAACTTGGCCTGGACGAGCCTCTCTAGCTCCCTCAAGATTCCCAGCAAAGTCCTGCGCTTTCAGGCTTCCAAACCTTTGCACAGGCTCACCCCCTCCAGCCTTGGAATACTCCCCCTCCTGTCAGGGTTAGGGTGATAAAGACGCCTCCTCCATGAAGCTCCCCACTTGGGTGTCCCAAGGGGAATTAATCTGTCTTCTCTGTGCTCCCAAAGCACACAGCTCCACCACGACAGGCCTCACTTTATGCTCTTTTGTGGATTTGAGCTGCAGATCCCGGTGCCTGTCCCAGCTTTGCTCCTCCCATGCCGTGTGGACTTGGCCTTTCTGAGCCTTTGTCTGGGTTGGTCAAGTGCACAGCAGGGCTGCCTCCCAGCAGGAGCCTTGGCCCTGATGCCCTTGGCTGTGTGCCTGGCAGCTGTTCGACCGGCACCTGTGCGTGCGCCAGCTGCGGTACTCAGGAATGATGGAGACCATCCGAATCCGCCGAGCTGGCTACCCCATCCGCTACAGCTTCGTAGAGTTTGTGGAGCGGTACCGTGTGCTGCTGCCAGGTGTGAAGCCGGCCTACAAGCAGGTACAGGGCTGAGTGCACAGAGGGCAGGAGGGGAGGGTCCCAGCTTTGGCTGGGCAAGGGTCCCAATTTTCTTATCAGGACCATGGGCGGGGCTTGACATCTGCTTGACCTCTCAGGTGCAGCACGGAAAATTGGGGTTCAGGTATTGGAATGCATCAGTGGGCTTCAGTTGCCATGTTCAGCTGGTGAGGACTTCACACATGGTGGTGTAAGGAACAAGACCAGGGCTGCCACGCGGGCCCTGGATGTCAGTTGTGAGAAAGGGTTTTGCAATCATACCATCCAGCTGAGCTAAGGAGAAAACTGGGGCTCAGAGAAGGCAGGACCCAGCTGAGGTCACACTTCGAGTCAGGGGCAGAGCTCGGGAAGAGCCCTGCCTCTCAGCCTCGGGGACACTCCGGAGGCCTTCCCACTGGAGAGGCTGTCCATTCCCTTGTGTTCCCCATCCTCACTCCAGGGCGACCTCCGCGGGACTTGCCAGCGCATGGCTGAGGCTGTGCTGGGCACCCACGATGACTGGCAGATAGGCAAAACCAAGATCTTTCTGAAGGAGATGCCTTCCCTGGGCTGCCCTGGGGGGGCTGTAAATTCCCATGATGTGGGCTGGGGTGCTCGGGAGAGGGAGGCAGTGCTGGGGCTTTGAGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATGGAGGTGTTCAATTCATATATATTAAGTGAACCAATGAAGTTTTGTCCAACTACAGTGAGGGTTGGGGTCTTGGATGAGGAGGAGAGAGGGCTGAAAAAGTTGGCAGACACCCTGGATCATGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGANNNNNNN | pathogenic | 181,155 |
Determine whether the variant at chromosome 11, position 77177612, in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Usher_syndrome_type_1'] | AGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATGGAGGTGTTCAATTCATATATATTAAGTGAACCAATGAAGTTTTGTCCAACTACAGTGAGGGTTGGGGTCTTGGATGAGGAGGAGAGAGGGCTGAAAAAGTTGGCAGACACCCTGGATCATGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGACCTTGTGGGGCGCTGCTCAGGAGCTCTGCCTCCTAGGACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTTCAGAAAGTCATCCGGGGATTCAAAGACAGGTGCGTGTTCCCACCAGCTCCTCCCCTCCTCAGCCCACATACAGGTGTACGTGTGGTGTTTGGCTCTCCTCTGCTCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGC | AGATCCTTTCTGCCGGGCTGTGGTGTGGCTGGAGGAGCAGGTGGGATCTGGCCTCTCTGGTGGGGAAGGGTAATTTGGTGTTTGAGATCATCTACAACCTGGGAGTGGGGTCAGAGCACTGACCACAGGTTACAAAGCACATGCCAGGGGCGGGCTGGCTGTTAGGCCCACAGCAGGGAGGCAGGGGTGCTGCTTGCCTTGGGGCCCTTTCTGAGCCTCATTTTCCCATCTGTAAATTGGGGTGTGCCTGTGTGGGGTCTCTTGAGTGTATCTTTAGGTTCCTTCCTGTGGTTTCCTGCCTGGCAGGGCCCATCCCGTGCTGGGGTCCGCAGCATGCCACCTGTCCGTCACTCTGTAGGGAGCTCAGCTCCCATTGCTGCCTGGGCAGCTGGGGAAGGAAGCAGGAAGCAAGGCCTGCGGGAGTCGCGGAGTCACAGCCTTGGAGACATGGCTGGGAGCTGGCAGTGGCAGGGCAGCCGCAGCAGGGACAGTGCGAGCTCCCAGTGCTGGGCTTCCCCATTTGCATTTCCGCTGTGCTAGATTTCTGGCTGTCCCGGATGACAGGGCTCCTTCCTCTGGTGTGGGGGGTGGGGCCTGGGCACTCCAAGGACAGCTGCAGGAGGGACAAGAACCAGCTCCGAACTGGAGGGAGCCTGCGGCCTCTTCTAATTCCTCTCCAGCCAAGGGGCTTCAGGCTAGGCCCTTTCTCTCCTTGCACCTGCATTTCCTCATCAGCAAGATGTGATGAATGTTCCCTGCCTGTGCCTCCCACAGCTGTCAGCCAGAAAGCACATTCCATGTGCCAGGCCCTGGGTGGGTGCTTTTCATCCATGAGCTCATTTAATCCTTGAAACAGTCCTGTGGAGAAGGAAATATTATACCCATTTCACAGGCTCAGAGAGAAGTGAGTTGCCTGAAACCAGGCAGCTAGGAAGCAGGGAGCAGGACTTCTAGTCTGGGAAGGTCTGATGCCCAGCCCCTGTGTGGGCAAAGTGGGGAAGGCAGGAATCATGATGGCATCTAGTACCAGGGAACTCGGAGGAGCTCCATCAGCCCCTGACTTACACTGCTAGGCTCTTCCGATATGGCCTTGGTTTTGAGAGGCCAAACATGCTCATTCATCCATTCATTCATTCAGAATGCCTCGGCTGAGCATCTCCTCTGTCAGGGCCCTGTGTGTCTGTGATTATCTGATGGATTTGGCTCCCTCATGAGACTCTACCCTCCCCAAGGGCAGGGGCCATGTCTCCCTGGTTCATTGTGGCAGCCCCTCCCCTCCCCAGCATCTAGCACAGTGCCAGCACATGGAGGTGTTCAATTCATATATATTAAGTGAACCAATGAAGTTTTGTCCAACTACAGTGAGGGTTGGGGTCTTGGATGAGGAGGAGAGAGGGCTGAAAAAGTTGGCAGACACCCTGGATCATGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGACCTTGTGGGGCGCTGCTCAGGAGCTCTGCCTCCTAGGACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTCAGAAAGTCATCCGGGGATTCAAAGACAGGTGCGTGTTCCCACCAGCTCCTCCCCTCCTCAGCCCACATACAGGTGTACGTGTGGTGTTTGGCTCTCCTCTGCTCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCN | pathogenic | 181,159 |
Clinically, how would you classify the variant at chromosome 11, position 77179038, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | TGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGACCTTGTGGGGCGCTGCTCAGGAGCTCTGCCTCCTAGGACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTTCAGAAAGTCATCCGGGGATTCAAAGACAGGTGCGTGTTCCCACCAGCTCCTCCCCTCCTCAGCCCACATACAGGTGTACGTGTGGTGTTTGGCTCTCCTCTGCTCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGA | TGGGTGGCCTTGAATGCCAGGGTGAGGAACCCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGACCTTGTGGGGCGCTGCTCAGGAGCTCTGCCTCCTAGGACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTTCAGAAAGTCATCCGGGGATTCAAAGACAGGTGCGTGTTCCCACCAGCTCCTCCCCTCCTCAGCCCACATACAGGTGTACGTGTGGTGTTTGGCTCTCCTCTGCTCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGANNNNNNNNNNNNN | pathogenic | 181,161 |
Regarding the variant found on chromosome 11 at position 77179068 in gene MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGACCTTGTGGGGCGCTGCTCAGGAGCTCTGCCTCCTAGGACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTTCAGAAAGTCATCCGGGGATTCAAAGACAGGTGCGTGTTCCCACCAGCTCCTCCCCTCCTCAGCCCACATACAGGTGTACGTGTGGTGTTTGGCTCTCCTCTGCTCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAACGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGG | CCAGGCTCGACGTGGGGAACCATGAGGTGTCACTGTAGGGTCACCATCCAGGTTGTGTTGAGGAGGGTCCCTCTGGCTGCTTGTGAAGGAGCGCCAGAGAGGGAGCCAGGAGGCCGCGAGACCTTTAGTTAGGAGGCTGCTGCCAAGGTTCGGGAGAAGAATGGCAACAGCCCAGCCCAGGTGAGGGACTGATGTGACAGGGACGTCTAGAAGCAGGGGGCTTGGGCAGATTGACGATAGGGAAGAAGCTGGTGTGTGTGCATACTGGGCCTTCCGACCCCATCCAGAGAGATTAGGCACCTTCTGCTCCATTTGTCCTGCCTGGACCTCTGGGAAACAGCCACAACCCCTGTCTGTCCTGGTGGCTGTGGGAGGCTGCCCCAGGGGCCAGAGCCAGCTGGGAGCTCATGGGGCCCAACTGAGTTCTTGACCTGTGCTCCCAGTGAAGGAAGAGCAGCCCCCACTGGGACTGAGCAGGTGGTCCTAGAGGAGACCTTGTGGGGCGCTGCTCAGGAGCTCTGCCTCCTAGGACCACCATGACATGCTGCTGGAAGTGGAGCGGGACAAAGCCATCACCGACAGAGTCATCCTCCTTCAGAAAGTCATCCGGGGATTCAAAGACAGGTGCGTGTTCCCACCAGCTCCTCCCCTCCTCAGCCCACATACAGGTGTACGTGTGGTGTTTGGCTCTCCTCTGCTCTGCCCGCATGAACACTAGGAAAAAAACGTGTTCACCTATGAAACAAGTGCACACATGCATGGCATGCACACATGATCATGTAAACACAGAGGAACATAGATACATGATTTACATGGACCCATTGTGCCACGTAAGCCAAATAATGCAATACATTCACCTACATATGCACATGCACACGTAGATACATGAGACTCACATGTGGACCCACTGTTCATGTCAGATGCTGATGAAATTTTGCAAAGAGGAAATTTGAGATTTTATAAATTATTAATACAAAATGTGTCTCATATTCTATCTAAGGGATATGTGTACACGTGACAATTCACAAATGTGCAGGACTGACTCCAAAGTGTGATTAAAGCTCTGCAAAAATTCCACAATGCACCCCTTTGCAGTTCATATGGTCACTCTCTCCCTTCTTCCACTCGTCCACCCACCTACCTATCCATCCGTCCGTTCACCCACCCACCTACCCATCCATCCATCCATCCATCTGCCCACCTATTCACCCATCCATCCATCCATCCATCCACCCGCCCACACACCCACCTAGTCACTCATCCATCCACCTATCCACCCACACATTCATCCATCAATTCACCCACCAACCCATCCACCATCCATCCATCCACCCACCCACCCATCCATTCACTCATCAGTCCACCCACCCATCCACCTACCCATTCATTCCTCCATTCATCCATTCACCCACCCACTCCCACAGTTGCTCATTTGCTTATGTGTGTCTCCAAGCATTGACTTATTGGCTCACTTGCATACTTGCACACCCATCCTTCGCTCTTCCTTTATTTATTTCTACATTCAGCAGACCCCTGCTGTCTGTGCATGGTCTCTGTCCTCTATCAGGCTGAAGATGACTGTTCTCCTATAGAAGCAGCCTGCTGTGTGCAGGGGGAACAGCACTGGGCTCACTTAGGGTCAGTCAGAAGACATGGGCTCTAGTCCCAACCTATCAAGTCTCAGTTGCCTCATGTATAAACTGAGGAAGTTAGACTGTTCAAAGCTTTTGATCTTTATATTATTTTAATTACTTATTTTTTCATACATTTATTCATTCAACAAATACCTTTTGAATGTCTACCTTCATGGGCTTATGTGACAGGCCTGTGGGGCAGGCAGGGCAGGCATTATTCTACACATTGTACGGATGAGGAAGCTGAGGCACAGAAGTTATGTGCCTTGCCCAAGGTCATATAGCTAGGAAGTCACAGAGCTGGGACTCAGCGTGCCCTCCTGATCCCAAACCCACCTGTACCCTGGCTGCCTCTGGACACTGCTCACCCGCGCCACTACTGCTGTTTCAGGTCTAACTTTCTGAAGCTGAAGAAGCTGCCACACTGATCCAGAGGCACTGGCGGGGTCACAACTGTAGGAAGAACTACGGGCTGGTGAGCCTCCCCATGGGCTGCTCTTGCCCAAACAGGCCTTTGAACCCAGCCTTGCTGCCATGGCAGTGGGACTGGCCTGCACCCAGGCAGCACAGCCTGGCCTCGTTGGCCTCCTGCCACTGCCCTGGCCAGCCACTACCATTCCTCCAGACCGAAGTCTGGATCTGGCTCTTGTGGCTTCTTCCAACTGGCCAGCAATGTTTGTTGCTCTCCTTCTGGAGTGTTTTTGGGGGTTGGGAGCACTCTGGGATTATTAGAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGN | pathogenic | 181,163 |
Evaluate this variant at chromosome 11, position 77181434, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2'] | GAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTGGTAAGGCCTGCCTGTCACTAGGTCACTGCTGGGTGGGGCCAGGGCTGGGGCTATGGACTCTGCTGCTGGTGGTGGCCGTAGGTGATGAGGGTGGTGGGTCCCTGGGGGCCAGGGACCAGGTCTGACTATAGTCTTCACTGCGGTGCCCAGCCTGAGGGCTGACCATGCGGGAGGGGGTGTCTCCAGCCCACTCCCCAAACCGCCAGGTCATTTTGACAGCTTTAGCAATGTCCTCCGCTCTGGCCTCTGACATGCGCGCTCTGCCCCAGGCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAGGTGAGGCCAAGGTGCCCTCTGGATGATGTCCCTCCCAGGCCGACAAGGAGGGCCGCTGGCATCACCAGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCC | GAGATCTCAGACAGGGTGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTGGTAAGGCCTGCCTGTCACTAGGTCACTGCTGGGTGGGGCCAGGGCTGGGGCTATGGACTCTGCTGCTGGTGGTGGCCGTAGGTGATGAGGGTGGTGGGTCCCTGGGGGCCAGGGACCAGGTCTGACTATAGTCTTCACTGCGGTGCCCAGCCTGAGGGCTGACCATGCGGGAGGGGGTGTCTCCAGCCCACTCCCCAAACCGCCAGGTCATTTTGACAGCTTTAGCAATGTCCTCCGCTCTGGCCTCTGACATGCGCGCTCTGCCCCAGGCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAGGTGAGGCCAAGGTGCCCTCTGGATGATGTCCCTCCCAGGCCGACAAGGAGGGCCGCTGGCATCACCAGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCN | pathogenic | 181,182 |
Gene MYO7A (myosin VIIA) variant at chromosome 11, position 77181450—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Usher_syndrome_type_1'] | TGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTGGTAAGGCCTGCCTGTCACTAGGTCACTGCTGGGTGGGGCCAGGGCTGGGGCTATGGACTCTGCTGCTGGTGGTGGCCGTAGGTGATGAGGGTGGTGGGTCCCTGGGGGCCAGGGACCAGGTCTGACTATAGTCTTCACTGCGGTGCCCAGCCTGAGGGCTGACCATGCGGGAGGGGGTGTCTCCAGCCCACTCCCCAAACCGCCAGGTCATTTTGACAGCTTTAGCAATGTCCTCCGCTCTGGCCTCTGACATGCGCGCTCTGCCCCAGGCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAGGTGAGGCCAAGGTGCCCTCTGGATGATGTCCCTCCCAGGCCGACAAGGAGGGCCGCTGGCATCACCAGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCA | TGAGAGTGGCTGGGTCACATGGACCTCTGTGCAGCAGCTGGGCTTAGGACTTGTTGGGGCTGGATGGGAAGCAGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTGGTAAGGCCTGCCTGTCACTAGGTCACTGCTGGGTGGGGCCAGGGCTGGGGCTATGGACTCTGCTGCTGGTGGTGGCCGTAGGTGATGAGGGTGGTGGGTCCCTGGGGGCCAGGGACCAGGTCTGACTATAGTCTTCACTGCGGTGCCCAGCCTGAGGGCTGACCATGCGGGAGGGGGTGTCTCCAGCCCACTCCCCAAACCGCCAGGTCATTTTGACAGCTTTAGCAATGTCCTCCGCTCTGGCCTCTGACATGCGCGCTCTGCCCCAGGCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAGGTGAGGCCAAGGTGCCCTCTGGATGATGTCCCTCCCAGGCCGACAAGGAGGGCCGCTGGCATCACCAGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCANNNNNNNNNNNNNN | pathogenic | 181,184 |
The mutation impacting MYO7A (myosin VIIA) on chromosome 11 at position 77181522: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['MYO7A-related_disorder'] | AGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATGTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTGGTAAGGCCTGCCTGTCACTAGGTCACTGCTGGGTGGGGCCAGGGCTGGGGCTATGGACTCTGCTGCTGGTGGTGGCCGTAGGTGATGAGGGTGGTGGGTCCCTGGGGGCCAGGGACCAGGTCTGACTATAGTCTTCACTGCGGTGCCCAGCCTGAGGGCTGACCATGCGGGAGGGGGTGTCTCCAGCCCACTCCCCAAACCGCCAGGTCATTTTGACAGCTTTAGCAATGTCCTCCGCTCTGGCCTCTGACATGCGCGCTCTGCCCCAGGCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAGGTGAGGCCAAGGTGCCCTCTGGATGATGTCCCTCCCAGGCCGACAAGGAGGGCCGCTGGCATCACCAGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCATGGGAGCTTTCTGTGGAACAAGAGTGCTCATGGAGCATGAACAGGATTAATTTATTTGAATTCATTCTTCAG | AGACTGGTTGGTTGCAGCTCCTGATCTAGGATTCTCTTGGGGGCCCCAACTCAGGGAGAGTCAAGGTCACCTAAAAATATGTTGCCTGAGAGGAAACAGAACTTTCTAACGATGGGGGGGCACTAATCTGAGAGGAGACTGGGCCACGCCTTCTGGGGGTGCCTGTCTGAGAGTGGAGGCCGGTGCCATGGAAGCTCCTGCAGGCAGGGTCAGTCTGGAATGGGACAGCAGGCTCTGAGCATGGGGTGGCTGTCCTTGCAGATGCGTCTGGGCTTCCTGCGGCTGCAGGCCCTGCACCGCTCCCGGAAGCTGCACCAGCAGTACCGCCTGGCCCGCCAGCGCATCATCCAGTTCCAGGCCCGCTGCCGCGCCTATCTGGTGCGCAAGGCCTTCCGCCACCGCCTCTGGGCTGTGCTCACCGTGCAGGCCTATGCCCGGGGCATGATCGCCCGCAGGCTGCACCAACGCCTCAGGGCTGAGGTGAGGGAGCAAGTCCATAGCACCCACAGCTCTGACCCCTGGGCGAGGAGTGTCCATGCATCACCCTCAGGTGTTGGCCAGGAAGTGGGACCTATAGGGGGGACCTGCAGTTATGCCTGCTCTGAGGAGTGCACATACCTGGGACCAGACCCTCATTTCCATCCTCTCAGCCAAGGGCAGGGCTGGGACCTCAGTCACTCTTGGGAATCTCTGGGAGACCGACGCAGATCTGGCCGGGCTTTAGGATCAGTGGTGCCTCCAGCCCGCTGGGTGACCTAGAGAATTTCTTGATTACCTCACTTGTCCTATCAAAGTCATGCCCAGTTCCAGAACTCAGAGTTGGGTGGGTGGAGCTGGTGGGAATCCCTGCAACAACAGCTACACACATTTCCATGCCCTCTGGATGCCCCCTTCCCTCAGTATCTGTGGCGCCTCGAGGCTGAGAAAATGCGGCTGGCGGAGGAAGAGAAGCTTCGGAAGGAGATGAGCGCCAAGAAGGCCAAGGAGGAGGCCGAGCGCAAGCATCAGGTGAGCTGAGAGCCTCCAGGCACCTTAGGTGTCCACTTGCTGGCTTGTCCCCTCCCCGAGGCTGGCTTCTCATCTGTCACCCGGTGCTGCAGCCTTCCTTCCATCCTTCAGAATGGCCACACTAGACCCACTCAGCCAGCATTGCCTGAGCTCTCGCTGGGCACCTGGTCCTGTGCCATGCAAAAGGATGAAGGGCTGTGGTGGCTCCAGAGGAAGAGGCCCAGGCCCTCAGCAGCCCCTTTCTAGTTGTTGAGATAACACCCTGGTAAAAGCACAAGCCAGCTGACGGCACGAGGGTGCTACACTGCCCAATAGAGAGCCACCAGCCACAGTGGCAACTGAACACTTGCAGTGTGGCCTGTCCGAATGACACAGTGCTTTAAGTGTGAAATACTAGATTTTGAAGATTTGGTGGGGGAAAAATGAATATAAAATATCTCAGTATTATTTTTATAATATGGATTACATGCTAAGTTAATATTTGGGAAATATTGAGTTAAATATACTGCTAAGACTAATCCCACCTATTCCTTTTTGCTTTTTAAAACGTGGCTACTATATGGGTGGCTCACATTGTATTCCTATTGGGCAACACTGGTCTAGAGCCTCAAGCCAATGGCCGTGGGATGTCTGGGTTGGTGTGGTCCCCATGGAGCAGGCTCCTGGAGGAGGTGGCTCCCTGAGAGCCCTGAAGGACGGGCAGGATTGTTATTTGGCTTGTTGAGAGGCCTCTGAGTGGTCCAGAGGTGGGGAAGTCAGAGGCTCCATTCTTCCCAGCGGTCAGGAGGTGGGGACTGAGGCCCTGGCTGCTGCAGGGGCTCCCCAGGGAGAGCTTGTTCCCTGAGGCTGTGGCACCGGGGGCTGACCCCGTGTCTTCTGTGTCACCCCAATTGCCCAGGAGCGCCTGGCCCAGCTGGCTCGTGAGGACGCTGAGCGGGAGCTGAAGGAGAAGGAGGCCGCTCGGCGGAAGAAGGAGCTCCTGGAGCAGATGGAAAGGGCCCGCCATGAGCCTGTCAATCACTCAGACATGGTGGACAAGATTTTGGCTTCCTGGGGACTTCAGGTGGCCTGCCAGGCCAGGAGGGCCAGGCACCTAGTGGCTTTGAGGTACCAGGCTAGGGACAGGGGCTCCAGAGGCCCACACACACCGCTTGTGTTGATCCTCCCTCCTTCTGTGCCCTTGGCCTTAAAGCCCACCCAGTCCCTCTGAACAGTGGGGAGCAGAGATGAACTGGGTCCGGGCTGCAGGTCCCAGGTCCTGTCCCTCTCCAACGCCCTTCTCAAGTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCGTACCCTGTTGCTCAGGCTGGAGTGCAGTAGCGTGATCACAGCTCACTGCAGCCTTGAACTTCTGGGCTCAGGCGATCCTCCCACCTGAGCTTCCTGAGTAGCTGGGACTCCAGGGCATACCTCTTGTCTCCTTCAGGACCTGGAGCGAGGGCGGAGGGAGATGGTGGAGGAGGACCTGGATGCAGCCCTGCCCCTGCCTGACGAGGATGAGGAGGACCTCTCTGAGTATAAATTTGCCAAGTTCGCGGCCACCTACTTCCAGGGGACAACCACGCACTCCTACACCCGGCGGCCACTCAAACAGCCACTGCTCTACCATGACGACGAGGGTGACCAGCTGGTAAGGCCTGCCTGTCACTAGGTCACTGCTGGGTGGGGCCAGGGCTGGGGCTATGGACTCTGCTGCTGGTGGTGGCCGTAGGTGATGAGGGTGGTGGGTCCCTGGGGGCCAGGGACCAGGTCTGACTATAGTCTTCACTGCGGTGCCCAGCCTGAGGGCTGACCATGCGGGAGGGGGTGTCTCCAGCCCACTCCCCAAACCGCCAGGTCATTTTGACAGCTTTAGCAATGTCCTCCGCTCTGGCCTCTGACATGCGCGCTCTGCCCCAGGCAGCCCTGGCGGTCTGGATCACCATCCTCCGCTTCATGGGGGACCTCCCTGAGCCCAAGTACCACACAGCCATGAGTGATGGCAGTGAGAAGATCCCTGTGATGACCAAGATTTATGAGACCCTGGGCAAGAAGACGTACAAGAGGGAGCTGCAGGCCCTGCAGGGCGAGGGCGAGGTGAGGCCAAGGTGCCCTCTGGATGATGTCCCTCCCAGGCCGACAAGGAGGGCCGCTGGCATCACCAGCCTTGGGCTCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCATGGGAGCTTTCTGTGGAACAAGAGTGCTCATGGAGCATGAACAGGATTAATTTATTTGAATTCATTCTTCAGN | pathogenic | 181,186 |
Variant in MYO7A (myosin VIIA), chromosome 11, position 77184725—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCATGGGAGCTTTCTGTGGAACAAGAGTGCTCATGGAGCATGAACAGGATTAATTTATTTGAATTCATTCTTCAGTCACTTTGCCTTTTCTGGGCACTGTCCCAGCCCTTGTGCTCTGGGGTTGTCCAGGCTGGTGTGTGTGTGGCAGGGGAGGATACACTGGAGAGGCAGACACAAACCAAGGCATTCACAGCCTTGGGGGCCAGGCCCCCATCCCCACATTTGCACATGCCAGTCCCTCTGCCTGAAACTCCTCCTTTCTCTGCCTGGGGTCACCTCCTCCAGGAAGCCTCCCCAGCTCCTCCACTGCAGAGTCAGGGGCTCCCACTTCACCTCTGCCCTTGTCCTGTCCCCACCTGAGGCACAAATCCAGCCTTGCAGGTGTGTGGCCTCAGATTTGAATCCCACCTCTGCCGCTTAGTATTCAAGGGACCCAGGGAAGAAAATGCCCACTCCGTGGGGTCCTGGGAAGAAGGCAGAAATGGCAGCCGAGGGTGTTCAGTGGTGCTCCCTGTCTGCACCACCCACTCCTGCCGCTCGCCTCTCACTCACCCTACATCCTCTGGGCAGAGCTCGGGGCTTGTGCTGTGGGCTGTGTGGGATGAGAGAGGAGAAACATCTCATAAGAACTGGTGTGAGGCTGGTCACATCGGGGCTAAGGGTGTTGGTGACAGAGTGGTGGTGACTGGTGGTTGGAACCTGGAGTATACTCCAGGTGCCACAGTTATGTTGGCGGGGGCACCCCAGAGAGATAGGGGTCCCGCTTGGAGTCAGAGGATCATGTCCCTGTCCTGGCTGAGAGGACCTCCCTGGGGTGGGGTGTGGGGTGCAGGGTATCGAGGAGGTGGCCAGAGGAGCTCTGTCCCCAGAAGTGGGTGGCACCGGGCCAGTGTGCCCCTGCTGTGTGGGCCAGTTATTGGCCCAGCATCTGCTGTGCACGTGGCAGGGGTAATGACAGTGATGGGGAGCCCAGTTCTTCTGCTCACTCCTTAGATTCTGTTTTCTGGGGAGCAGGCAGCCTCGGGTGCTGGTGCCCTGGCTGGCAGGGGAACACCCCTAACTTTACCTGCCCTGTCCTCTCCCTCTGGCCCAGGTGACCAAGAGGCTGCATGACGGGGAGTCCACAGTGCAGGGCAACAGCATGCTGGAGGACCGGCCCACCTCCAACCTGGAGAAGCTGCACTTCATCATCGGCAATGGCATCCTGCGGCCAGCACTCCGGTCAGTGCCGGGAGGCGGGGACACCAGGGCCTGAAAGTCTTTTGGTGGCTGAGTGGTGCCTCTGTCAACCTAGCAAGAGATTAAGCCAAGCAGGCCTGGGTTTGGCTTCGCTGCTAGCTAGTTGGTGGAGTTAGGACCTTGGTGGAGTTATTTCATCTTTCTAAGCCTCTGATTCCTTGTCTGTAAAGGGGGAATCCTAAAACAGGCATCCCTTGGAGATATTGCAGGTTCAGTTGAAGGCCACAGAAATAAATATCACAATAAAGAGAGCTGCAGAAATATTTTGGTTTCCCAGTGCATATAAAAGTCATATTTATACTATACTATAGTCTATGAAGTATGAAATAGCATTATGTCTAAAAAATGTAGACATCTTGATTAGAAATTAATGCCAAAAATGCTAATGGTCATCTGAAAGTTGTATCTATTTGCTGGAGGGTCTTGCCTTGATGTTGATGGCTGCTGACTGATCAGAGTGGTGGTTGCTGAAGGTCGAGGTGGCTGCGACAATTTATTAAGATAAGACAACAGTGAGATTTGCTTTCACACAAAATTTCTCTGTAGCATGCAATGCTGTTTGACAGCATTTTACCCACAGTAGAACTTCTTTCAAAATTGGAGTCGATCCTCTCAAACCCTGCTGCTGCTTTATCAATTAAGTTGATGCAATATTCTAAATCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTCACCAATAGATTCCATCTCAAGAAACCACTTTCTTTGCTCCTCCATAAGAGGCAACTCCTCATCCACTGAAATTTGATCATGACATTGCAGCAACTCAGTTCCATCCTCAGGCCCCACTTCTCATTCTAGTTCTCTTGCTATTTATTTCCACCACATCTGCAGTTACTTCCTCTTGAAGTCTTGAGCCCCTCAGTCATTCATGAAGTTTGGAATCCACTTCTTCTAAACTCCTATTGATGTTAATAATTTGACCTCCTTCTACGAATCATGAATGTTCTGAATGGCACTGAGAATAGTGAATACTTTCCAGAAGCTTTTCCATTGATTTTGCCCAGATCCACCAGAGGAATCACTATCTATGGCAGCAATAGTCTTATAAAATGTATTTCTTAAATAAGACTTGAAAGCCAAAATTACTCCTTGATCCATAGGTTGCAGAATGGATGTTGCATTAGCAGGCATGAAAATAACATTCGTCTCCTTGTACATCATTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGTGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCAGGCTGGTCTTGAACTCCTGACCCTGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTCCAGGTGTAAGCCCCTGCAGCCAGCCTCTTGTACATAATTTTTAAGAGCCCCAGAATTTTTGGAATGGTCACTGAGCATTGGCTTCAATTGAAAGTCAGCAGTGCATTAGCTCCTGACAGGAGAGTCAGCCTGTCTTTTGAAGCCTTGAAGCCAGCCATTGACTTCTCTCTAGCTATGAAAGTCCTAGATGACATCTTCTTCCAATAGAAGGCTGGTTCATCTACATGGAAAATCTGCTGTTGAGTGTAATCACCTTCATCAATGATTCTAGCTAGACCTTCTGGAAAACTTGTTGCAGCTTCTCCACCAGCACTTGTTGCTTCACCTTGCACTTTTATATTTTGGAGACAGCTTCTTGCTTTGAACCTCATGAGGCGATCTCTGTGAGCCTCCAACTTACCTTCTGCAACTTCCTTACCTCTCTCAGCCTTCATAGAATTGAAGAGACAGTCTTCCTCTAGATTAGGCTTTGGCTTAAGGGAATGTTGTGGCTGGTTTGATCTATTCAGACCCCTAAAATTTTCTCCATATCAGCAAATAAGGCTGTTTCACTTTCCTATCATTTGCATGTTCACTGG | TCCTCTGCAGAAAAAGGATCCTATAATTCATCTCTGCCTCACCGACCCCTGCCTGCCACCCTCCTTTGTCTACTTGTGGGAACAAATGTGTGCAACTTTTATAAACTGTAAAGTGCTGACCATAACTGAGGGGCCTCATGGCAGAGCAGACAGGGGCTTTGCAGTTGGAGCCAGCTCCCGTACTATGTTTTTCTGAGTCTCAGTTTTCCTGACTGCCAGTTGGCTAGTGGGGGTGCAAGGGTAGGGGTGAGCAGGTGGACGGTGGCAGTGTGGGGGACACCCTGTAAGCTTCACGTGGAAGCGAGACGGTTCCCCGCAAAGTCTTGCTGTCGGGGGTCTCGACATTGCTTTCTGCTCAGCCACTTGACCCTGATCCCTGCTGGTCCTGCAGGCCCAGCTCCCCGAGGGCCAGAAGAAGAGCAGTGTGAGGCACAAGCTGGTGCATTTGACTCTGAAAAAGAAGTCCAAGCTCACAGAGGAGGTGAGGGCAGACGCTGGGGGTCTGGCAGCCCAGGGGTGGCTGCCTTAGGTGGCCTAGGCTGGAGCACAGCTGAGCTGGGGGCCCACGGAAGCAGGAGCAGGAGTGGACACTGTCTGTCCTCAGGGGTCTTGGCTGGCCAGGGACAGGACAACATGAGTGGGTTGGTGGGCGATCAGGCAGACAGGAGTGTCTGAAGAGGGTGGGATCTCAGGCCGGGGGTGGGAAGGGCTTCCTAGCAGAGGGCACTGAGCAGGGGAGGCCGGTAGCGGCACAGCTGAGAGGGAATACACTTCTAGCCGGGCACAGACCCGAGGCACTTGGTCCAAGGACCTTTGAGGCATGGGAGCTTTCTGTGGAACAAGAGTGCTCATGGAGCATGAACAGGATTAATTTATTTGAATTCATTCTTCAGTCACTTTGCCTTTTCTGGGCACTGTCCCAGCCCTTGTGCTCTGGGGTTGTCCAGGCTGGTGTGTGTGTGGCAGGGGAGGATACACTGGAGAGGCAGACACAAACCAAGGCATTCACAGCCTTGGGGGCCAGGCCCCCATCCCCACATTTGCACATGCCAGTCCCTCTGCCTGAAACTCCTCCTTTCTCTGCCTGGGGTCACCTCCTCCAGGAAGCCTCCCCAGCTCCTCCACTGCAGAGTCAGGGGCTCCCACTTCACCTCTGCCCTTGTCCTGTCCCCACCTGAGGCACAAATCCAGCCTTGCAGGTGTGTGGCCTCAGATTTGAATCCCACCTCTGCCGCTTAGTATTCAAGGGACCCAGGGAAGAAAATGCCCACTCCGTGGGGTCCTGGGAAGAAGGCAGAAATGGCAGCCGAGGGTGTTCAGTGGTGCTCCCTGTCTGCACCACCCACTCCTGCCGCTCGCCTCTCACTCACCCTACATCCTCTGGGCAGAGCTCGGGGCTTGTGCTGTGGGCTGTGTGGGATGAGAGAGGAGAAACATCTCATAAGAACTGGTGTGAGGCTGGTCACATCGGGGCTAAGGGTGTTGGTGACAGAGTGGTGGTGACTGGTGGTTGGAACCTGGAGTATACTCCAGGTGCCACAGTTATGTTGGCGGGGGCACCCCAGAGAGATAGGGGTCCCGCTTGGAGTCAGAGGATCATGTCCCTGTCCTGGCTGAGAGGACCTCCCTGGGGTGGGGTGTGGGGTGCAGGGTATCGAGGAGGTGGCCAGAGGAGCTCTGTCCCCAGAAGTGGGTGGCACCGGGCCAGTGTGCCCCTGCTGTGTGGGCCAGTTATTGGCCCAGCATCTGCTGTGCACGTGGCAGGGGTAATGACAGTGATGGGGAGCCCAGTTCTTCTGCTCACTCCTTAGATTCTGTTTTCTGGGGAGCAGGCAGCCTCGGGTGCTGGTGCCCTGGCTGGCAGGGGAACACCCCTAACTTTACCTGCCCTGTCCTCTCCCTCTGGCCCAGGTGACCAAGAGGCTGCATGACGGGGAGTCCACAGTGCAGGGCAACAGCATGCTGGAGGACCGGCCCACCTCCAACCTGGAGAAGCTGCACTTCATCATCGGCAATGGCATCCTGCGGCCAGCACTCCGGTCAGTGCCGGAAAGTCTTTTGGTGGCTGAGTGGTGCCTCTGTCAACCTAGCAAGAGATTAAGCCAAGCAGGCCTGGGTTTGGCTTCGCTGCTAGCTAGTTGGTGGAGTTAGGACCTTGGTGGAGTTATTTCATCTTTCTAAGCCTCTGATTCCTTGTCTGTAAAGGGGGAATCCTAAAACAGGCATCCCTTGGAGATATTGCAGGTTCAGTTGAAGGCCACAGAAATAAATATCACAATAAAGAGAGCTGCAGAAATATTTTGGTTTCCCAGTGCATATAAAAGTCATATTTATACTATACTATAGTCTATGAAGTATGAAATAGCATTATGTCTAAAAAATGTAGACATCTTGATTAGAAATTAATGCCAAAAATGCTAATGGTCATCTGAAAGTTGTATCTATTTGCTGGAGGGTCTTGCCTTGATGTTGATGGCTGCTGACTGATCAGAGTGGTGGTTGCTGAAGGTCGAGGTGGCTGCGACAATTTATTAAGATAAGACAACAGTGAGATTTGCTTTCACACAAAATTTCTCTGTAGCATGCAATGCTGTTTGACAGCATTTTACCCACAGTAGAACTTCTTTCAAAATTGGAGTCGATCCTCTCAAACCCTGCTGCTGCTTTATCAATTAAGTTGATGCAATATTCTAAATCCTTTGTTGTCATTTCAACAATGTTCACAGCATCTTCACCAATAGATTCCATCTCAAGAAACCACTTTCTTTGCTCCTCCATAAGAGGCAACTCCTCATCCACTGAAATTTGATCATGACATTGCAGCAACTCAGTTCCATCCTCAGGCCCCACTTCTCATTCTAGTTCTCTTGCTATTTATTTCCACCACATCTGCAGTTACTTCCTCTTGAAGTCTTGAGCCCCTCAGTCATTCATGAAGTTTGGAATCCACTTCTTCTAAACTCCTATTGATGTTAATAATTTGACCTCCTTCTACGAATCATGAATGTTCTGAATGGCACTGAGAATAGTGAATACTTTCCAGAAGCTTTTCCATTGATTTTGCCCAGATCCACCAGAGGAATCACTATCTATGGCAGCAATAGTCTTATAAAATGTATTTCTTAAATAAGACTTGAAAGCCAAAATTACTCCTTGATCCATAGGTTGCAGAATGGATGTTGCATTAGCAGGCATGAAAATAACATTCGTCTCCTTGTACATCATTTTTTTTTTTTTTTTTGGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTGGCTGGGACTACAGGTGCCCACCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGCCAGGCTGGTCTTGAACTCCTGACCCTGTGATCCACCCACCTCAGCCTCCCAAAATGCTGGGATTCCAGGTGTAAGCCCCTGCAGCCAGCCTCTTGTACATAATTTTTAAGAGCCCCAGAATTTTTGGAATGGTCACTGAGCATTGGCTTCAATTGAAAGTCAGCAGTGCATTAGCTCCTGACAGGAGAGTCAGCCTGTCTTTTGAAGCCTTGAAGCCAGCCATTGACTTCTCTCTAGCTATGAAAGTCCTAGATGACATCTTCTTCCAATAGAAGGCTGGTTCATCTACATGGAAAATCTGCTGTTGAGTGTAATCACCTTCATCAATGATTCTAGCTAGACCTTCTGGAAAACTTGTTGCAGCTTCTCCACCAGCACTTGTTGCTTCACCTTGCACTTTTATATTTTGGAGACAGCTTCTTGCTTTGAACCTCATGAGGCGATCTCTGTGAGCCTCCAACTTACCTTCTGCAACTTCCTTACCTCTCTCAGCCTTCATAGAATTGAAGAGACAGTCTTCCTCTAGATTAGGCTTTGGCTTAAGGGAATGTTGTGGCTGGTTTGATCTATTCAGACCCCTAAAATTTTCTCCATATCAGCAAATAAGGCTGTTTCACTTTCCTATCATTTGCATGTTCACTGGNNNNNNNNNNNNNNNNNNNNNN | benign | 181,216 |
Clinical significance of chromosome 11, position 77189371, gene MYO7A (myosin VIIA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness'] | GTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGA | GTCTGCAAAGTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAN | pathogenic | 181,220 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 77189380, gene MYO7A (myosin VIIA): what disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness'] | GTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCC | GTGTAATAAAGTGAAGTACAGTAAAATGAGGTGTGCCTGCAGTAGCTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCT | pathogenic | 181,221 |
A mutation at chromosome position 77189425 on chromosome 11 in gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Rare_genetic_deafness', 'Usher_syndrome'] | CTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCG | CTACCTCATACATAGGCTTGTGGGAAGATAAAGCTATGAAAACTGTGTAGCACCAGACCTGGAGCATAGTAAGCGCCCCGTAGATGGTAGCTTTGATCATCATCATCCAACATGCATTTCCTGCTTTAACCCCGCTGCCGCCAGCTCACCTCCAGTCACCCACCCTAGGCCCACGGTTAAGGTTACTGTGCCTGGGAATCCTGCAAGTACCTCCTTCCCCACAGGGCCAGGAGAGGCCTTTACCCAGGTCCCTGGGGTTTTGGGGAGTTGAAGGGAAGACCCAGGAGTCACCAGGAGCCACCAAAAAATCAACTCAGCTGATGAGAGGAGGGCTAGGACTTTTCTGAGAACAGTCTCTGCATAGGACAGGTCTGTCGGGAGAGCTGATGCCATGAATGTGTGCATGCTGGTTGGGAGGACAGCAGGATGAGGCAGGGACCAAGCCCCACTTTCCTGATGGGGAAACTGAGGTCCAGAGTAGGGAAGAGATTTGCCCAGGGGTCACTAGGCCTCCTGCCTCCTATCAGGCCCCCGTTTTTATCTCCCCAAGGCTAGTCACTACCTCACCGGGGTGGCCACACTGCCCAGGGCCACCTGCCAACAGGAGGAAAAGGCAGCTGCTGCAGGCGTGTCTCAGGGGCAAGAATTTGCCTCCAAATTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGNN | pathogenic | 181,225 |
Assess the variant on chromosome 11, position 77190083, impacting MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | TTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGC | TTATCTCACCATCATACCTAAAGCTGACACTTCTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCNNNNNNNNNNN | pathogenic | 181,231 |
Clinical significance of chromosome 11, position 77190115, gene MYO7A (myosin VIIA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1'] | CTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCT | CTAGGAAACACGGTGCCAGGAGCCCTGAACCAAGAGTCCAAAGGCTGGGGTGTCAACTCCTTGAGGGGCCTCACACGGCTAATCCCTCCCTGCTCTCAGCCTCTGTCTCCCCATCTGTAAAGTGAGTGGAGACTCCCAGCTGCAGGTGATAATATCTCACTAGTCTGTGGCAAGGTGGGAAAAGGAGGGATGTTTCTGAAGCTAAACTTGTTTTCTTTAAAGGACTGCTCTGAGACTTTGCCCTCCTACTGTTTGGAAATTTAAAATTACCTTTGTTTTATGAGATAATTGGGATCTAGATAGTGGGCAGGTTGTGTGTGTTATAAATGTTCTCATTTATCATGATAAAAAAATGGGTAACTTCAGAATTTTCTTTGAAATTATAAACTCTCAAAACTGTTGAGCCACTGAATTAGGTAATCCCAGCCATCCTTTGGGAGAGAAGAGCAGCAGTGAGTGCCCCCTGGCGGACACTGCATCGTCATGTGTCCTGCCCTTGTCCTTGAACAGGCAGGCTGCAGTCTTAGAGTACTCAGTTTGCAGAAGAGAAGAACAAGCCCAGCAATAATTGCAGCTGGCATTTATGAGGGGTTCACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTC | pathogenic | 181,235 |
Variant at chromosome position 77190708, chromosome 11, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome', 'Usher_syndrome_type_1', 'Usher_syndrome_type_1B'] | CACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGA | CACTGTGCCTGGCACTGTGCTAGGTGTGTCATAAGCCTTGGCTCATTCATCTTCACAGCAATCTTGTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGAN | pathogenic | 181,239 |
Determine if the mutation at chromosome 11, position 77190773 in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGAT | GTAAGGATTCCTTTAAAATGAACACCAAAAAATTACCTTAATTGTTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATN | pathogenic | 181,240 |
Does the variant impacting MYO7A (myosin VIIA) on chromosome 11, position 77190817, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Usher_syndrome_type_1'] | TTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATG | TTTTCATCCCATTACAAAAGTCATACATGGCCCCTTAAGTATTCACACATTACAGAAATATACCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGNN | pathogenic | 181,244 |
Benign or pathogenic: chromosome 11, position 77190879, gene MYO7A (myosin VIIA) variant? Disease(s) if pathogenic? | benign | CCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGG | CCAGAGACAAAGTCCCTACTCATTCCATCCCCCAGTGACACCCCAGGATGCTTTTCCTGTTTCCGCTTTGTCCGTTGCCATGGGTAGAAGTTGCACCTGCTGCCGTGACTATGGGCTGGGATCAGAGAGGCGAACTCACCTGCCTGGGCCACCAGCTGGTTAGGAACGAGGCAGAGGCGGGGACTGTGCTTCTCATTAGCATGGTCACCTGTGGCTGTGGCTGCGGCTGCTGAGCCCAGAGCAGGATACGCACCACCCTGGATGGTGGGGCCCTGGCTGTGGGAACTGGATTGGAGTTGGGGAGGTGCTTTATGCCCGATGATCCTGTCTCCAAAGCCAGACCCCAGCCCTTGGCTCAGCCCTGCCACCCAGCCTCACTCTGCCTCCTCCCGGGTGGTCTTGGCAAGTTGGAGAGGACAGCTGTGTGGCGTCCCACTGGCTGCTAGGAGGAGGTGGGGACCGGGGCTGTTCCTGTGGGGTGATTCCCCCTCCCTTGCCCTGCTGCCTGCCCAGGGACGAGATCTACTGCCAGATCAGCAAGCAGCTGACCCACAACCCCTCCAAGAGCAGCTATGCCCGGGGCTGGATTCTCGTGTCTCTCTGCGTGGGCTGTTTCGCCCCCTCCGAGAAGTTTGTCAAGGTAGGAAGGTGCCTGGCCTCCTGGAGTGGGAAGGGGAGCTAGGCCCTGTCCCAGCACTGTGGGGAGAGCAATAGCCAGGGGCTCCAAAGGGCCTGGTCACAAGGCCCACCCGGCCACTCCTTACTGAGCCCCATCTTCCTGGCACCCCCTCCTCTCAGGCAGCCACCTCTTTTCCCCACACTCCCCTCAGCCCCATTCTACTTAGGAGGGGGCTGAGTCTGACAGGAGCGTGTCCCAGGCCCTCTGCACCCTCGTCTTGGGGCAGGCCCTGGGCGCTGGGGTCAGAGTGGAGCAGGTCATGGCAGGACCGACCCGACTGGCTGGTGCTGTGAAGGGGTATGGGGAGGAGCCACTAGGCTAAGCTAGCGGGAGGTGGGGGAGGCCACAGACGTGGCTGGAAATAGATGGTGGAGCTGAGAGGGTAGGGAAGCCACAGAAAGCAACCTGGCCTGGAGGAGCGGCCTCCAAGTGCCGGGAGGGCCTGGCGGCTGCCCTCAAAATCCACATGGGGAGCCCCAGGGGCCGCCTCAGCGGGTACTCTGGCTGCAGTACCTGCGGAACTTCATCCACGGGGGCCCGCCCGGCTACGCCCCGTACTGTGAGGAGCGCCTGAGAAGGACCTTTGTCAATGGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGG | benign | 181,247 |
Is the variant located on chromosome 11 at position 77192149, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAA | GGGACACGGACACAGCCGCCCAGCTGGCTGGAGCTGCAGGTTCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAAN | pathogenic | 181,261 |
Gene MYO7A (myosin VIIA) variant at chromosome 11, position 77192190—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Rare_genetic_deafness'] | TCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCA | TCGTGCGTGTGTATGCACGTGCTCGTGTGCATGTGTGCGCACGTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCAAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAN | pathogenic | 181,262 |
Is the genetic variant on chromosome 11, position 77192232, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTG | GTGTGTAAATGCGTGTGTGTGTGTGTCCAGTGCACTCGAGTGCCCCAGAAACATTCCCTGCTTTGAGATTCTGTGGTTCCTCAGACACCTACCCTCAAGTTCTGGAACCCCAGGCCCATCGGAACAGAAAAGCCCCCAAAGGATGAGGGACTCCATTTGCTGGCCTTACGGTCAAGACGACTTGGGCAAAGGAGATTCCCTCTGTGTCTCAATGCCTTTACCTGCCACATGGTGAAGGTTATATGAAGTGATAGCAGAGACCCCTGGCCTGTGGCAGTGCCTGACCTCTCAGCCCCAGGCCCTGGCTCAGGGGTCCTAAAGGTCCCATTGGGGTGGGGTGCACAGCAGGGCTCCCTGGACACCTGTGACAGGGACAAGCAGTGTCCCAGTGAGGTACTGGGGCCTGGGGTGCTGGGGCACCTCCAACCCCACAGAAAGCAGAGAGCCAAAGTCCAGAGGGGCAGGCAGGTCTGAAGGGAAGGGACCCCACAAACCCTCTTGGGGCACTTCCAGGCCACCAAGTCCAAGAAGCCAATCATGTTGCCCGTGACATTCATGGATGGGACCACCAAGACCCTGCTGACGGACTCGGCAACCACGGCCAAGGAGCTCTGCAACGCGCTGGCCGACAAGATCTCTCTCAAGGACCGGTTCGGGTTCTCCCTCTACATTGCCCTGTTTGACAAGGTATGGCCGCCCGGAAGCACCTCCTCCCGGAAGCACCTCCTCCCGGCCCCACTCCGGGCTGCCAGTGCTGCCACCTACTTGCCGGGGCTATTCACCCTTGAGCACCTCGGTTTCCCCCTGAGCCTGTGCTAATTGGCTCTGCCTGACTCCTCAGGACTGCCGAGAACTCGGCCAGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAAGTCAGGAGTTCGAGACCAGCCTGGCTAATGTAGTGAAACCTCGTCTCTACTAAAAATACAAAAATTAGTGGAGCACGGTGGCGCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGTGGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAACAAACAAACAAAAAACTGCTGAGTGCTCTTCAGCACCTGAGGGAAAACCCAGCAGTAGGATGTCCTCAGTCCTGTGTCCTCAGGCCCAGTGAATCCTCTCCTGGTGCTGAAGGAAGAGCATGGCACAGGCTGATGGGAGGGCTGCGCAGCCCTTGTGTGCAGATGGGAATGGAATTCCCTCTCAGGTTGCCACGGCATCTGATGGAGAAACTCCTCAGCAAACAGGAGTTCCTTCACACTTGCCCTGAAGCAGCTGGAGTGTGGGCGTCCCGCAGACTCACCTCGGAGGCTGGAGCCTCCTCGGCTGAGCGGGACCTGGGGCTTGGGTGATTTTGCCTCCACCCCCAGCAACGTCATGCTCAGCAGAGGGGCCCCCGCCCACAAGCCCAGGGGAGGTACCGTGTTGCTGGACACAGTTTGCCTGGATTTTTCTCACCGATGCTCTTATGTTTCCAGGTACTGTCTGTTCAGTTTCCCAAAAAGCTTCCACTAGAAAATGGGAATTCCCACGTCACCGTGCCCAGAACTGAGGCTAGGAAGGCAATGGTGGGGGTGCGGCTTAGAGCCCAGGGCTAGAATCTGGTCTGCCTCCTGGGGGCCTTGGACGTGTCCCTGCCCCTCGCTGGGCCTCCGTTTTCTGTCTGAACTGACCGTTGGCCCCGTTGAGGCTCCTCATAGTCCTTCCCTGACTCTGTGCCTGCTCCCCTCCCCTCTGTGCCCACAGGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCCCAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAACCTCATCTACCAGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGTGAGTGGGAGGGAATCTTCCGCCAGGCTGGCTTGGCTCACAGCCTCCTGCTTTCCACGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGNNNN | pathogenic | 181,263 |
Is the genetic variant on chromosome 11, position 77194384, gene MYO7A (myosin VIIA), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome', 'Usher_syndrome_type_1'] | CGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACT | CGTTTGGGCTGAGTGCTCCTCTGTGAGCCATCATTAGCTCAGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGAC | pathogenic | 181,270 |
Mutation found at chromosome 11 position 77194424, gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic | AGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACTTTAATACGCAAATATGGTAGGTTGGGGAAGGAAGCACACA | AGGCTGGGGTGAGCCTGACTGCAACCAGGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACTTTAATACGCAAATATGGTAGGTTGGGGAAGGAAGCACACAN | pathogenic | 181,272 |
Classify the chromosome 11 variant at position 77194451 affecting gene MYO7A (myosin VIIA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | GGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACTTTAATACGCAAATATGGTAGGTTGGGGAAGGAAGCACACAATTCAGTCCATAACAGGTGTTTTGAAA | GGCACTCTTCAGGCTCCTGGATGGACACCGCCTACTTCAGGGGGCTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACTTTAATACGCAAATATGGTAGGTTGGGGAAGGAAGCACACAATTCAGTCCATAACAGGTGTTTTGAAAN | pathogenic | 181,274 |
Is the genetic change at chromosome 11, position 77194495, within gene MYO7A (myosin VIIA) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | CTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACTTTAATACGCAAATATGGTAGGTTGGGGAAGGAAGCACACAATTCAGTCCATAACAGGTGTTTTGAAAACATCTTATTTTGAAATAATTTCAAAGTTATGGAGAAATTGCAC | CTCGTGAGGAGAGGCGAGATGGCGGGAGCAAGGGCTTCTGAGGATGTCCTGAATTCCACCAGTGGAGGAGGCCCCCACACTGCTGTAGTGACTGTGCGTGCTACAGAGGACGTGCCGCAGGACCTGCTGCACCATTCTGAGTATATCTAGTAAGCGCTGCATTAAATGAGAAATACAGCCATTCCTTGAGATCAGAATTTGCAAATGTGTATTCTTTTTTCTCCTTCTGAGGACAGGAGTTATGTGGTTGTTTTGTTTTCGATAATGGTAATGGTAGCTATGGTTCTGTTGGTGATTGTGATGGAGGGATGAGAAAGGAGGTGGTGGAAATGAAGAGGATAGTTGGTGGTAGTAACGTTGGTGGAGGTAGTGATGATGGTTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTAATGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGGTGATGACAGTGTTGTGGGTAGTGATGATAGTGGTGATGGTAAAGGTAGTGATGGTGGTGTTGACAATGACAGTGTTGTTGGTAATGATGGTGATGGTGGAGGCAGTGATGGTGTTGGTGATGACAGTGTTGTTGGTAGTGATAATGATGGTGATGGTGGAGGCATAGTGTTGGTAGTGATGATGGTGGTGATGGTGGAGGCAGTAATGATGTTGGTGATAGTGTTGGCAGTGATGGTGGTGATGGTGGAGGTAGTGGTGGTAGTTTTGTTGGTGATAGTGGTGATGATAATGGTGGTATTGGTGGTAAGCAAATATTCAGGCGGAGTGCATTAGTATAGCCACATCAGTTGCTAAAATTCTGAAATATTTCAAACTGGTTGGAAAATATCTATTGCCTCCAAGGCCCCCAAGAGCCTTTCTCTATGCCCTTGCTGCTGGAGCCCTGGGGAGCTCTAGGTAGGCATCACTGGGGCTGCTGTGCACCAGGCCAGGCAGAGAAGGGGCAAATGCCCAGTGGCCACTTGGCTCTCTGAACCCTCTGCAGTAGATCCTGCCAGCTGTTAACCACTTTAACTGTCCCCCAAGTGCTTAACGGTGGTAATGGTGATGGAGGCAGTCACAGTGATGCACTTCCCTCACTCTGACCCTGCCAGCAGACCCTAGGTGTCTCCCATTCTCCAGGGCAGACACTTCCTCTTCTGCTGTTTGTCAGCTCTGGTCGCTGTCTCACAGGGCTGAGTGTGCAGTGGCTGCTCGATGGGCTGGCTTGTTTCTTTGCATCACTTCATGTGCCCCTGGGCAGAGTCCAGCTCCATGCCAGTGCCAGAGGGATCCAGGAGAAGGTGAGGGTGTGGCCCTGCCCTTGGGGAGCTCATGGTTCCTCTGAGCAGACAAGAATTCCCTGGTGAATCAGTGAGAAGCCTGGGTCCCAAAGGCCAGGCTCTGAGAGCTACAGGAGGCAGGGCCAGGAGAGGGGCCTGGAGCCTTTGGTGGTGTGGAAGGGCTTCCTGGAGGGGCCTGGGCCAATGCATGACCGAGGCCTCCCCCCACCTAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAGTACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTGAAGACGCTGGAGAAGTGGGCCAGCTGGCCATCGCCGCCCACAAGAAGGTAGAAGGGCTGAGAGGAGTCCTAGAGAAGGGATGTGGACCTGAACAACCAAGGAGGTCCCAGGCCTCATCTGAACCTCTCTGTTGGGGCTGCGGGGGATGGGATGGCACCTTCCAGTGGCCCTTCCTTCATTGGACATCAGCTCACTCATTCTCCTTCCATCTGTGTGCCAGGCACACAGAGGGAATCAGACTTAACCTTGCAGCCTCTGTGGGGCCATGGGTATTGGGGCCCCTTTCCTGGTCTTGTGCCAGCCCCTCATTGGTGTTATAGCTTCCAGAGCTGCAGCTCAGGAGTGGCGGTGGATGCTAGACAGAGCTTTAGGAATTGTACCTCCTTTTTCCTAAAAGAACTCCAGCCCAACTTCCCGCCTGGGGAGCTTTAGGGACAGGCCCCCTTGACCCTCTTGCTTGGAGCCCAGGCCCATGACCAGCCATGAGTGGTTCCCTCCCAAGCTAAGAGCCTGGCCAGGTAGAGCAGGGGTATCCAGATGGGGAGAAGGTGGGAGCACTGGCTGCTGGTAGGGGACCCAAGGCCGCCTCATCTCCATGGCCCTGGCTGTGCAAGAGAATTGCCCCCGTACATAAGTCGAGGGCTCCATAGTCTGAGGGCACCACAGACCCGGATCTCACCCCTCCACCTCGTGGCCTCCGTCCTCACCCGGGAGCCCTGTGCCACCCTCCACCTGACCGTGTGCCTTCTCTGGTCAGCTCCCCGCCAGCCTCTGCCTCTCCCTGAGTCCTGAGTGCTCCCTGCGCCAGCCTGCTTCCCCCGAGGCCCGAACCCCCCCGAACCCCACTTCAGAGGAGGAGCGTCTCCTCCCTGCCACCCCTCTGTCCCTCAAGTGAGAGCCCTGCCCTTCATCCTCAGGCACCTCCTCTCCCTTGGCCCTCACATGCCGGCAGCCACTGCAGCCTGTCCAGCTAACTCCCAAACAGCTGCAGCCTCCACCCCCACCTCCCTGAGGGCCTCCTCGGGGCTCACTGCCATTGTGGCATATGGTACGTCCTGGGTGGGGTGCTATTATTATGCATTCATTTTATTTTGGGCATTTGTCATGTGCTGGGCACCATACCAGGACCTGGAGACACAGCCCTTTGTGGGACAGACATGGTTTCTGCCCTTTGGAGCCCACAGCTGAGCTGGGTCTCTCCTGGACTGGAGCTCCTCAGAGTGTCTGTCCCAGAGCCCTGGGCCAGGCCCCACATAGAATGGACAGTTGTGAATCACAGTTTTTGTAGGGTGGGAGGGTGCATTGTTCATTTTCTAGGTCTGCCATAACAAAGTGCCACAGACTAGGTAGTTTCAACAACAGAAATAAATGTATTTCCTTCTAGTTCTGGAGCCTGGAGCTCCGAGATCAAGGTGTCAGCAGGGGCTTTCTCCTGAGGCTTCTCCTCTCGGCCTGCAGATGGCTGTCTTCTCCATCTGTCACCACACAGTGATGTGTGCACATGCACGTCTGAGTCCAAATATCCTGCTCTTAAAAGGGCACGGGACATATTGGATTACAGCCCACCCAAGATATCTCATTAGTGACCTCTTTAAAGACCTTATCTCTGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGTTTGAGACGAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATGCAAAAATTCACCAGGCGTGGTGGTGGGTGCCTGTGATCCTAGCTACTCGGAGACTGAGGCAGGAGAATCACTTGAACTCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCCTGCCATTGCACTCCAGCCTGGGGGACAAGAGCAAGACTCCTTCTCAAAAAAAAAAAAAAGGAGCTTATCTCCAAATAGGGTTACATTCTGAGTTGCTGGGGGTGAGGACTTTAATACGCAAATATGGTAGGTTGGGGAAGGAAGCACACAATTCAGTCCATAACAGGTGTTTTGAAAACATCTTATTTTGAAATAATTTCAAAGTTATGGAGAAATTGCACN | pathogenic | 181,279 |
Classify the chromosome 11 variant at position 77198552 affecting gene MYO7A (myosin VIIA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | TTATTTTGAAATAATTTCAAAGTTATGGAGAAATTGCACGTTCAAAAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGGGAATATTTTTAGAGAAACACAATGCCGGTGCTTTTGTATCTTACCAAGAGCACAGCAGCACCCCTCACGGATCACCTCACCTCCAGGCTCCAGTTCTCCCTTGACACACTGATCTTTCTAACTCCCAGATTCACCAGATCAGTTTCTTGCAGTTGTGGCTGCACTCACAGTCCCCCAGGACCTGGCTCCGCACGCTGTGTCCCCATTCCCTCTCTTCCCCGTCTGCCCTGCCCACGCCTCTGCTGCACCAGCACACGCCTCCTACTGACCCCAGGGCCTTGGGCCTCCCACATGCTCTGCCTGGAATCCTTGCTTCCCTGTCTCTGCTGAACTGGGAACTCCCTGGAGGGGCAGCTATGCTTTCTCTGACTTTGGGCCCCAGCACCTGCATAGAGCTGGCACTCAAAAGTGCTCGCCGATGTTGACGAATGAGAAAGGTGGGGACAGGGTGGCTGCAGACAGATGGGAGCAGGGCAAGGCCACGATGCACAGGAGGTGCAGGAGCCCCAGGCTGCTCCTGGCTAGAAGGCAGCAGCAGCTGATTTTTAGAGCAAACTCACTCGTATGTTGTCTTCTGTCCCTCTGTCCCTCTCTCCTTCCAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAAC | TTATTTTGAAATAATTTCAAAGTTATGGAGAAATTGCACGTTCAAAAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGGGAATATTTTTAGAGAAACACAATGCCGGTGCTTTTGTATCTTACCAAGAGCACAGCAGCACCCCTCACGGATCACCTCACCTCCAGGCTCCAGTTCTCCCTTGACACACTGATCTTTCTAACTCCCAGATTCACCAGATCAGTTTCTTGCAGTTGTGGCTGCACTCACAGTCCCCCAGGACCTGGCTCCGCACGCTGTGTCCCCATTCCCTCTCTTCCCCGTCTGCCCTGCCCACGCCTCTGCTGCACCAGCACACGCCTCCTACTGACCCCAGGGCCTTGGGCCTCCCACATGCTCTGCCTGGAATCCTTGCTTCCCTGTCTCTGCTGAACTGGGAACTCCCTGGAGGGGCAGCTATGCTTTCTCTGACTTTGGGCCCCAGCACCTGCATAGAGCTGGCACTCAAAAGTGCTCGCCGATGTTGACGAATGAGAAAGGTGGGGACAGGGTGGCTGCAGACAGATGGGAGCAGGGCAAGGCCACGATGCACAGGAGGTGCAGGAGCCCCAGGCTGCTCCTGGCTAGAAGGCAGCAGCAGCTGATTTTTAGAGCAAACTCACTCGTATGTTGTCTTCTGTCCCTCTGTCCCTCTCTCCTTCCAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACNN | pathogenic | 181,299 |
The chromosome 11, position 77198597 genetic variant in gene MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Rare_genetic_deafness', 'Usher_syndrome_type_1'] | AAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGGGAATATTTTTAGAGAAACACAATGCCGGTGCTTTTGTATCTTACCAAGAGCACAGCAGCACCCCTCACGGATCACCTCACCTCCAGGCTCCAGTTCTCCCTTGACACACTGATCTTTCTAACTCCCAGATTCACCAGATCAGTTTCTTGCAGTTGTGGCTGCACTCACAGTCCCCCAGGACCTGGCTCCGCACGCTGTGTCCCCATTCCCTCTCTTCCCCGTCTGCCCTGCCCACGCCTCTGCTGCACCAGCACACGCCTCCTACTGACCCCAGGGCCTTGGGCCTCCCACATGCTCTGCCTGGAATCCTTGCTTCCCTGTCTCTGCTGAACTGGGAACTCCCTGGAGGGGCAGCTATGCTTTCTCTGACTTTGGGCCCCAGCACCTGCATAGAGCTGGCACTCAAAAGTGCTCGCCGATGTTGACGAATGAGAAAGGTGGGGACAGGGTGGCTGCAGACAGATGGGAGCAGGGCAAGGCCACGATGCACAGGAGGTGCAGGAGCCCCAGGCTGCTCCTGGCTAGAAGGCAGCAGCAGCTGATTTTTAGAGCAAACTCACTCGTATGTTGTCTTCTGTCCCTCTGTCCCTCTCTCCTTCCAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGG | AAAAGTAGGACTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGGGAATATTTTTAGAGAAACACAATGCCGGTGCTTTTGTATCTTACCAAGAGCACAGCAGCACCCCTCACGGATCACCTCACCTCCAGGCTCCAGTTCTCCCTTGACACACTGATCTTTCTAACTCCCAGATTCACCAGATCAGTTTCTTGCAGTTGTGGCTGCACTCACAGTCCCCCAGGACCTGGCTCCGCACGCTGTGTCCCCATTCCCTCTCTTCCCCGTCTGCCCTGCCCACGCCTCTGCTGCACCAGCACACGCCTCCTACTGACCCCAGGGCCTTGGGCCTCCCACATGCTCTGCCTGGAATCCTTGCTTCCCTGTCTCTGCTGAACTGGGAACTCCCTGGAGGGGCAGCTATGCTTTCTCTGACTTTGGGCCCCAGCACCTGCATAGAGCTGGCACTCAAAAGTGCTCGCCGATGTTGACGAATGAGAAAGGTGGGGACAGGGTGGCTGCAGACAGATGGGAGCAGGGCAAGGCCACGATGCACAGGAGGTGCAGGAGCCCCAGGCTGCTCCTGGCTAGAAGGCAGCAGCAGCTGATTTTTAGAGCAAACTCACTCGTATGTTGTCTTCTGTCCCTCTGTCCCTCTCTCCTTCCAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGCAGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGNNNNNN | pathogenic | 181,301 |
Considering the variant on chromosome 11, location 77198607, involving gene MYO7A (myosin VIIA), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Rare_genetic_deafness'] | CTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGGGAATATTTTTAGAGAAACACAATGCCGGTGCTTTTGTATCTTACCAAGAGCACAGCAGCACCCCTCACGGATCACCTCACCTCCAGGCTCCAGTTCTCCCTTGACACACTGATCTTTCTAACTCCCAGATTCACCAGATCAGTTTCTTGCAGTTGTGGCTGCACTCACAGTCCCCCAGGACCTGGCTCCGCACGCTGTGTCCCCATTCCCTCTCTTCCCCGTCTGCCCTGCCCACGCCTCTGCTGCACCAGCACACGCCTCCTACTGACCCCAGGGCCTTGGGCCTCCCACATGCTCTGCCTGGAATCCTTGCTTCCCTGTCTCTGCTGAACTGGGAACTCCCTGGAGGGGCAGCTATGCTTTCTCTGACTTTGGGCCCCAGCACCTGCATAGAGCTGGCACTCAAAAGTGCTCGCCGATGTTGACGAATGAGAAAGGTGGGGACAGGGTGGCTGCAGACAGATGGGAGCAGGGCAAGGCCACGATGCACAGGAGGTGCAGGAGCCCCAGGCTGCTCCTGGCTAGAAGGCAGCAGCAGCTGATTTTTAGAGCAAACTCACTCGTATGTTGTCTTCTGTCCCTCTGTCCCTCTCTCCTTCCAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGAT | CTGCTATGTGCACTTCACTTCCCAGATTCACTGGGTGATAGCCACACTTGCTCAGTGATTTGTCTCTCTGCCTACATATGTATTTTCTCTGAGTCATTTGAGCTTGGGTTGGTGACATTGAGCTCTTTGCCTCTGAATTCTCACCGCTCTCAGGATGGCACCCCTCATGGGCTCTCATGGGTGGAGATGGGGCCGTCTGTGAGCTGGCATACACATCCACCCTTACCTATGCCTGTGTCTACATTCTATAAAAACCAGGATTTCACTCTGACCCCTCCAATGCTACCCCAGAACCCCAGAGTTCTCACTAGGGCTTGGGGGAATATTTTTAGAGAAACACAATGCCGGTGCTTTTGTATCTTACCAAGAGCACAGCAGCACCCCTCACGGATCACCTCACCTCCAGGCTCCAGTTCTCCCTTGACACACTGATCTTTCTAACTCCCAGATTCACCAGATCAGTTTCTTGCAGTTGTGGCTGCACTCACAGTCCCCCAGGACCTGGCTCCGCACGCTGTGTCCCCATTCCCTCTCTTCCCCGTCTGCCCTGCCCACGCCTCTGCTGCACCAGCACACGCCTCCTACTGACCCCAGGGCCTTGGGCCTCCCACATGCTCTGCCTGGAATCCTTGCTTCCCTGTCTCTGCTGAACTGGGAACTCCCTGGAGGGGCAGCTATGCTTTCTCTGACTTTGGGCCCCAGCACCTGCATAGAGCTGGCACTCAAAAGTGCTCGCCGATGTTGACGAATGAGAAAGGTGGGGACAGGGTGGCTGCAGACAGATGGGAGCAGGGCAAGGCCACGATGCACAGGAGGTGCAGGAGCCCCAGGCTGCTCCTGGCTAGAAGGCAGCAGCAGCTGATTTTTAGAGCAAACTCACTCGTATGTTGTCTTCTGTCCCTCTGTCCCTCTCTCCTTCCAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAAGAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATN | pathogenic | 181,302 |
Mutation at chromosome 11, position 77199607, within MYO7A (myosin VIIA): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_dominant_nonsyndromic_hearing_loss_11', 'Autosomal_recessive_nonsyndromic_hearing_loss_2', 'MYO7A-related_disorder', 'Usher_syndrome_type_1'] | TTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGG | TTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCGCAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCCTACAAATTCTCAGGTACCCCACAGCCTGCAATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGATGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGN | pathogenic | 181,307 |
Assess the variant on chromosome 11, position 77199803, impacting MYO7A (myosin VIIA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Hearing_loss,_autosomal_recessive', 'Retinal_dystrophy', 'Usher_syndrome', 'Usher_syndrome_type_1'] | AATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGG | AATGCTCCCAGTCCCTTGCTCTGTAGCTCCAGCCCACAGCAGGGGAGGGAAACGTCTTGAGCCAGGGGCCCCCGTCAGTGGACCTCTTGCCTGCGGGATGCTTGGTCTGCTCTGGTCAATGCTGCTGAGTGGGTCCTGCCTCCCCAACACCCGGTAGCGACTCCATGGCACATCTTCTGTGCTCAGTGGTGCACGGGATTGAAAAACTGAGTGAGGATTGATTCATTAAGGCACATACTATGTATACAACAGGGTGGCCCAGGGTTCAGACAGGGCCAGCCCTGCTGGGCCGACTCTGTGAAGTCGAGAGTAGCAGATAAAAACCCACACAGGCCACTGGCTCAGCCATCCTCGGGCCATCGTTACTGGGCACCTGCTGTGTGCCAGGCCCTGTGCTGATGCTGCTGTTCACAGAACCACCGAGCACCAGGGCCGGAGGGAACCCTGGGCCTCAGTCCAACCCCTCCCCAGATCCCGCCTTAGTGCAGGGCAGGGGCTTGTCCAAAGCTGCACAAAGACCAGTGGCAGGAGTGGGACCCAAACCAATTTCCCAATTGAACACTCTCTTCCTACTGCACTTTGGGTTTTGGCACGTAGCGAGTTTGTGCTCTCTGAGCCTCAGTTTCCATATCTATAAAATAGAAATCAGTGTATTGCCACCTGCCTGGCCGTTATGAGATTGAGAAGGGCTGGGCCTGGGTGTGGGAGGCCTGCCTCTCAGTGCCTTGGTCTCGTCCCAGGCCCCAGTCTCCCCAAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAGATCATGGCCGTGTCCAGCAGCAGGTGAGGAGGCCCGCATGGAGATGCAGACAGACAGAGGGGAAGGAGAGGGGCTGGAGCTTCCCTGCGGGTCACAGGAAGTGAAGAGGCATGAAGTGGCCTGCCTGGTTGCACGTGATTGGGCAGTTTGTGCCGCACTGTGCAGACCCCTCTGGCACCTCCTAGTGGAGGGATGGGCTTGGGCTTTACAGCACATTAAGGCTGTTCTGAGACAGGAATGGGCTGTCAGGACAGGCAGGGGCAGGTGAGTGTGTACAAAAGAGCTTGACCTGGGGGTTCAGGGGACTGAGTAGCACTCACTCTATGTCTTCATTCCTAAAACAGGAGTCTTAATACTTTTCTCGCATAACAGTGGTGGGGAATGAATGCAATAATAGATGGGAGAGCTCTTTATAAACTGCAAAGTGCAGTGCACATAGGTGGAATGGTGGGGTGGGTTGCTGGGATTGACTGGCTTTCCCAGCAGTGCAGTGGCTCCCTCCTCCACCATCTGGGGCTTGTAGCAGTGTCTTTGGGTTGTGTCTGATATGGGCTGGAGTCAGACTGTGTCCAGCACTGACCAGACACATGCCAGGCACACAGGATGCAGTAGTGACAAGATAGTCCTTGTCCTCTTGGATCTTCAGTCAAGAGAGGAGACAGACATTGAATAGGCCATTTTAAAGCATGGTATGATCAGGGCTGTGGGAGGGCAGGGAGGACTTCCTGGAGGAAGTGGCATGTAGGTTGAGATTTAAAGGGTGAGTAGGAATTAGACAGGCAAAGGAGAAGTAGGCCGGGCCACTGTGGGTCTCCCTCTGGGCCATGCCTGACTCTGGCCAGGCCAGCTCTGACTTAGCCTGAGATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGTAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGN | pathogenic | 181,316 |
Determine whether the variant at chromosome 11, position 77201511, in gene MYO7A (myosin VIIA) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_2', 'Usher_syndrome_type_1'] | ATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGGGTGGGGCCGGGGGTGGGGATTGGAGAGAGGTGTATCACCCGCACTGTCTGAACAGGCAGTGGGGGCACAGCTGGGAAGGGGGCCCTGCTTCTTCTGGAGCCCCCTTGAGAGCAGCTCTGAGGACTCACAGCCCAGCTTCCCTAGTGGCTCCTGAGCCAGGCTCAGTGGACGAGGCAGCTCTCATACCATGTCCCGCTGCCTTGTCCAGGCTTTCTGACTGACCCAACCTGATCAGACACCTGGGGAAGGGCCCTGAGCTCAGCACAAAGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGGGGAAGGATGGGAGCCACAGGGCTAGGAGCTGCAGGCTTCCGCTACTGTCTGGTCGTGTGCTGGGGCTGCTTTGTGAAGCCCCCACCTGTGAGCAGGGCCTGGGTCAGAGGGAGCTGGAGGGCTGTTTCTGTCTGCCAGGATGACCCGTCCTATGTGTCTCATCTTATCTTCCTTCCTTCAAGAGATGTCACTGCACCCACCCCAGGCTGGGCATTCGAGACTGAGTCCTGGTGGGGATGCGGGCTGGAAGCAGGCAGCTGGGATTCGGCGTGCCCAGCACTGTGATGAGGATGCTTCTGGGGCGGGGGGTGGGGGGCAGTGAGAAGCTTCCTGATGGAGGCGTTGTGCACTGAGCTCTACAGGGGGCGCAGGGTGGTGGGGGAGGCTGGGGCACAGCCCGTGGTGTTCTCGCCGCTGGGGTTTCACAGCTGAGAAAGAAAGGCCCAGTGACTGCCAGTGACTCGCCTCGGGTCACATGCAGGGCAGGGAAGAGCAGGGCCTGGTGCCCACTCTCAGCCTCTGGACACAGGGATGGGTGGGGGTGGGGGTCTCACAACCTGGGGGTTTCTCCCCGGGGCTGCCAGCGATGGGGCGTTGCTGACGGTCCCTGTGCTGCGGCAGGCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGATATCCGTGCCACTGGGCTGTGCCCAGGGGAGCCAGGGACCGGGCAGGGCCTTCGTCTGCACACTGCCTTCCTCCTGAGGGCCTGCTGCGACCCGGGCACACATGGGGAGGGTTGATGGAGTACCCCCTCCCTTGCACCTTTTGATATGCAAGGGGCTGCCTCGCCCACTGTTTTCTCTGACCCTGTCATTTGGGTGCCAGGTGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACC | ATGTGTCTGAGCTGGGCCACGTCTCCCACTGGTTGGGGCATGACTGACTCAACTGGCCTTGATCTCCTTCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGGGCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATCAAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCTAAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGGTGAGTGGCTGCTGGTATGGACTGCCTGGCACTGGGGGTCAGGGTGTTATGCAGACTGTCTTAGTCCATTTGTGTTGCTATAATGGAACACTGGAGGCTGGGAGATTTATGAAGAAAAGAGGTTTATTTGGCTCACAGTTCTGCAGGCACTACAAGAAGCATGGTGCTGGCTGGGCACGGTGGCTTATGCCTGCAATCCCAGAGCTTTGGGAGGCTGAGATGGGAGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGTGAGACCCTCGTCTCTACAAAAGGTTAAATAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCATAGCTCTTCAGGAGGCTGAGGTAGAAGGATTACTTGAGTCCAGGAGGTGGAGGCTGCAGTGAGCCATGATTGTGCCACTGCAGTCCAGCCTGGACAAGAGTGAGACCTCCTCTCTTAAAAAAAAAAAAGAAAAGAAACAAAGAGAAAAAAGATGGCACCAGCATCTGCTTCTGATGAAGGCCCCAGGAAGCTTCCACTCATGGCAGAAGGAGAAGGGGTGCCTGCATCAGAAGGAAGGAAGAGAGCAGGGGGTGCCAGGCTCTTTTTAAACAATCAGTTCTCACAGAGACTATATAGAGTGAGAACTCACTCATTACCGTGAGCACGGCACCACACTGTTCATGAGGGACCCACTCCCATGACCCAAACACCTCACACTAGGCCACTGCCAACACTGGGAGATCAAGTTTCAACAGAGAGATTTGGAGGGGACAAATATCTAAACCATATCACAGACCATGCCCCGTGGCCTTGGCCTTGGCACTCAAGGCTGCTAGGATCTTGTTCCCATCTTTCCCCTGAAGCTAGACCAAATAGCAGAAGCCTGTGCCTTTAATCTGTAGCCTGTGGGGAACCTCTTCTCCCTCCCTTCTTCTGGCTCTTCAATACTCATCTCCTGTCAGCTCTCCAAGTTAGATCAGGGTCCTCCTCAGTGTTCCCAAAAGACCCACCATCTTCAAGTGATAACAGCAGTAACAACTACTCTGCCTGAGGCTACCGAGGCCCTGGCCAAGTGTGGGAAAGACAAAGATGAAATGGACCCCACCCTGTCCTCAGTGGGGAGGGGGGTGGGAAGAAGACAGTGACAGGCCTGTGACAGTGCAGTGAGCAGGGAAGCCCAGAGCCACAGGAGCCCAGAGGAGAGGCCCCATGCCGACTGGGGTCCAGGGAGGAAGCCCGTGTGACCAGAGCACAGGGGGCAGAGAGCTAAGCGTGATGCCAGCACAGAGGCGGGAGAAAGCTGGCCTGTCCAGGGAACTGCGAACAGCTTGGTTTGGCTGGGAACAGGCACAGTGAGGGAGGAGAGGCGAGGTGGAAGGAGTCTGGGAGGCCCGCTCACAACAGGCCCAGGAGTGTGGGGCTTCCTCCCAAGGGCAATGAGGAGCCGTGGAAGGCTTTTGAGCAGGAGAGTAGCCCACTCTGGTGATGGTCTCTGTATGGAGAGTTGTGACAAGGTGGAGGCAGAGTGGCAAGTGGGCAGACATGAGTGATAACACCTCAGTTCTTCTGTGGGAAGATGTTCCAACTCAGCCTGTCTCTGCCCCCATGGTCCCACTCACCTCTGCTCTACAGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTGGACCATGACACGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGACAGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGTATGTGGCCTGGGGGTGGCAGATGGGTGGGAGGTGCCATTAGACCCCTCTTTGTCCACTTCCCACAGCTGTACAATAGGTTAACGGTCTAGTGCATCTGTGAAGATGATCTTGGGATCTTATGGGACACACATTTAAAGTTGGGGCAGTGCTCAAACCTGTGCCAGGTGGGGAGGGGCCTAGAAATGGCATCAGATGAGGAACTGCCAAGGGGTGGGGCCGGGGGTGGGGATTGGAGAGAGGTGTATCACCCGCACTGTCTGAACAGGCAGTGGGGGCACAGCTGGGAAGGGGGCCCTGCTTCTTCTGGAGCCCCCTTGAGAGCAGCTCTGAGGACTCACAGCCCAGCTTCCCTAGTGGCTCCTGAGCCAGGCTCAGTGGACGAGGCAGCTCTCATACCATGTCCCGCTGCCTTGTCCAGGCTTTCTGACTGACCCAACCTGATCAGACACCTGGGGAAGGGCCCTGAGCTCAGCACAAAGGAGGCAGCAGGGACCTCAGAGACCCCAAGGAGGAACGGGGCTCCCAGGGTCAGAATGGGGCATGGGGTCCATACCCCTGAAGAGTCTCCCAGAGTCCAGAAGGCTTCAGGGTATACCATGTTGATCCTGGTGGCCACAGGTAGAGAGCTGACCTGAGCCCCCTGTCTCTTGGTCCCTAGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTCCGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGTGATGCCTCCTGGGGAAGGATGGGAGCCACAGGGCTAGGAGCTGCAGGCTTCCGCTACTGTCTGGTCGTGTGCTGGGGCTGCTTTGTGAAGCCCCCACCTGTGAGCAGGGCCTGGGTCAGAGGGAGCTGGAGGGCTGTTTCTGTCTGCCAGGATGACCCGTCCTATGTGTCTCATCTTATCTTCCTTCCTTCAAGAGATGTCACTGCACCCACCCCAGGCTGGGCATTCGAGACTGAGTCCTGGTGGGGATGCGGGCTGGAAGCAGGCAGCTGGGATTCGGCGTGCCCAGCACTGTGATGAGGATGCTTCTGGGGCGGGGGGTGGGGGGCAGTGAGAAGCTTCCTGATGGAGGCGTTGTGCACTGAGCTCTACAGGGGGCGCAGGGTGGTGGGGGAGGCTGGGGCACAGCCCGTGGTGTTCTCGCCGCTGGGGTTTCACAGCTGAGAAAGAAAGGCCCAGTGACTGCCAGTGACTCGCCTCGGGTCACATGCAGGGCAGGGAAGAGCAGGGCCTGGTGCCCACTCTCAGCCTCTGGACACAGGGATGGGTGGGGGTGGGGGTCTCACAACCTGGGGGTTTCTCCCCGGGGCTGCCAGCGATGGGGCGTTGCTGACGGTCCCTGTGCTGCGGCAGGCCCCCACCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCGCTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGATATCCGTGCCACTGGGCTGTGCCCAGGGGAGCCAGGGACCGGGCAGGGCCTTCGTCTGCACACTGCCTTCCTCCTGAGGGCCTGCTGCGACCCGGGCACACATGGGGAGGGTTGATGGAGTACCCCCTCCCTTGCACCTTTTGATATGCAAGGGGCTGCCTCGCCCACTGTTTTCTCTGACCCTGTCATTTGGGTGCCAGGTGGATTTGGTGCCTTGTGCTGGGCCAGGCATGCAGGTAGAGCAGGGACCAGCCCAGCCCCTGGCCTCATGGGACCATACACACATCCAGATCAATGTTGAGATGGGACCCGGCAGCACTGTGACCTGACCCATGTGACCN | pathogenic | 181,321 |
Subsets and Splits
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