question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2 values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic alteration at chromosome 11, position 66519691, in gene BBS1 (Bardet-Biedl syndrome 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCATCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGATGGGATTACAGGGATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGGGACAGGGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCACGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCATCCGGCCTTTTCTTTTATTTATTTTTGAAACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCATTTCCCAGGTCCAAGCAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCACCCGCCATCATGCCTGGGCTAATGGTTGTATTTCTGTACAGATGAGGTTTCTTTTTTTTTTTTTTTTCTTTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCTTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTCATATTTTTTGGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTTAAACTTCTGACCACTTCAGCCTCCCAGAGTGCTGGGCTTACAGGTGTGAGCCACCACGCCCAGCCCTTTTCTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTACTCTGTCAGTCAGGCTGGAATGCAGTGGCAGGATCATAGCTCACTGGAGCATTGAACTCCTGGGATCAAGGGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGATGCATGCCATCGCACCTGGCTGATTTTTTATTTTTATTTTTTGTAGAGTTGGGGTCTCACTTTGCTGCCCAAGCTGGTCTTGGACTCCTGGGCTCATGCAGTCCACCTGCCTTGGTCCCCAAAAGTGCTGGGATTACAGGCATGATCTGCTGAGCCTGGCCCAAATATTCTTTTTAAATATGACTTTTAAGAAATGACTGCAGCCGGGCATGGTGGCTCATGCATGTAATCCCAGCACTTTAGGGGGCTGAGGCGGGTGGATCACAGGTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACTAAAAATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCT | TTTTTAGTAGAGATGGTGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCACGCCCATCTTATTTATTTATTTATTTTTTTAAGAGATGGGGTCTCACCATGTTGCCCAGACTGGTCTCAAACTCCTGATCTAAAGTGATCCTCCCACCTGGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTATTTAGCCTATATTCATATATTTTTAAAACTAGGATTATACTAACGTCACTTTTTTTTTTCTTTTCTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCATCGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGATGGGATTACAGGGATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGGGACAGGGTTTCTCCCTGTTGGTCAGGCTGGTCTCGAACTCCCAACCTCACGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAACCACCGCATCCGGCCTTTTCTTTTATTTATTTTTGAAACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCATTTCCCAGGTCCAAGCAATTCTCCTGCCTCAGCCTCACAAGTAGCTGGGATTACAGGCACCCGCCATCATGCCTGGGCTAATGGTTGTATTTCTGTACAGATGAGGTTTCTTTTTTTTTTTTTTTTCTTTTCTTTCTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCTTGGCTCACTGCAGCCTCTGCTTCCCGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCTGGGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTCATATTTTTTGGTAGAGATGGGGTTTCACCATTTTGGCCAGGCTGGTCTTAAACTTCTGACCACTTCAGCCTCCCAGAGTGCTGGGCTTACAGGTGTGAGCCACCACGCCCAGCCCTTTTCTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTACTCTGTCAGTCAGGCTGGAATGCAGTGGCAGGATCATAGCTCACTGGAGCATTGAACTCCTGGGATCAAGGGATCCTCCTGCCTCAGCCTCCTGAGTACCTGGGACTACAGATGCATGCCATCGCACCTGGCTGATTTTTTATTTTTATTTTTTGTAGAGTTGGGGTCTCACTTTGCTGCCCAAGCTGGTCTTGGACTCCTGGGCTCATGCAGTCCACCTGCCTTGGTCCCCAAAAGTGCTGGGATTACAGGCATGATCTGCTGAGCCTGGCCCAAATATTCTTTTTAAATATGACTTTTAAGAAATGACTGCAGCCGGGCATGGTGGCTCATGCATGTAATCCCAGCACTTTAGGGGGCTGAGGCGGGTGGATCACAGGTCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACTAAAAATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCCCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTN | pathogenic | 178,872 |
Regarding the variant found on chromosome 11 at position 66521261 in gene BBS1: is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | ATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGG | ATACAAAAAGTAGCTGGGCACGGTGGCGTGCGCCTGTAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGNNNNNNNNNNN | pathogenic | 178,881 |
Is the genetic variant on chromosome 11, position 66521297, gene BBS1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome_1'] | TAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTT | TAATCCCAGCTAGTTGGGAGGCTAAGGCAGGAGAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTN | pathogenic | 178,884 |
Is the genetic variant on chromosome 11, position 66521329, gene BBS1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATG | GAATTGCTTGAACCTGCGAGGCAGAGGTTGCAGTGAGCCGAGATTGTACCACTGCACTCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGG | pathogenic | 178,885 |
Gene mutation in BBS1 at chromosome 11, position 66521386—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | TCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGA | TCCTGCCTGGGCGACAGAGCGAGAACCTGTCTCAAGAAAAAAAAAAGACTGCATAGTTTTTGATCATATGGATGGCTCATAATTGACTTAGACAATCCTCTTTTGTTAGAAAGTTAGATTTGTTGCAATAAACACCTTTGTACTTAAATCTTCTGTCACATCTCTGATATTTCCTCTTCATCCTCCTTTGCCCTCTTTCTTCCCTCATGTGGCATTCTGGGAGTATCTTGGGGGTGGTGTGTGGAGGTTCCCTGGGTGACCCCTGGAGTCCTTCTGTAGACAGTCATCACCACCATGACCACCTTGAAGAAGAACCTGGCTGACGAGGATGCTGTGTCTTGCCTGGTGCTGGGCACCGAGAACAAGGAGCTCCTGGTGCTTGACCCCGAGGCCTTCACCATTTTAGCCAAGGTCAGCGTCAGGTCTGGCCCTGGGCCCGCTGGAGGCCCAGGCTGCATTCTCTCCCCATGCTCCACAGTTAGTTCTGGGTAATATATATGTTCCTTGTAGAAAAATTAGAAACTAGATAAGCATTAAAAAAGATATATATCCAAAAATCCTACCGCCTATGGATGTATACTGTTAAAGTTGAGGCATAGGTCTCTCTAGACATTTTCATATTTAGACATAGATATATAACTTTATGTAAATATTTCTCTTTATAAAAACAGGATTAGCTGGGTGTGGTGGCCCATGCCTCTAACCCTAGTGCTTTGGGAGGCCGAGGCAGGAGGATGGCTTGAGCCCAAGAGTTTCAGGCTGCAGTGAGCTATGATTGTGGCACTGCACTCCAGCCTGGGCGACAGAGTGAGACCCTGTCTCTAAAAACAATAAGTAAATAAATAAATAAAAGCAGGAGGATCATGTAACATGTTCTTTTCATGTAGCAGTATATCATCAGTGTCTTTCTATATCTATAAAACCACATCAGCCTTTTATTTTCTTTTGTTTTGTTTTTTGTTTTTGAGGCAGAATCTTGCTGTGTCACCCAGGCTGGAGTACAGTGGCTCTATCTCAGCTCACTGCAGCTTCTACCTCCCGGGTTCAAGCAGTTCTCATGCCTCAGCCACCTGAGTAGCTGGGACTGCAGGCATGTACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTATCACCCTGTTGGCCAGGCTGGTCTCAAATTCCTTACCTCAAGTGATCTCTGCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGACCCCACATCAGCCTTTTTAAAGACCACGCAATATCCATCATATTGAGGTACCATAATTTATTTACCCTGTCACCTATTGTACATTTAAACTGTTTTTCATTTTTTGCTATTAATACCAATGCTATAGACCTTTTTACCCAAATATCCTTGCATGCTTGTTTGTTTGTTTTTGAGACAATCTTGTTCTCTTGCCCAGGCTGAAGTGCAGTGGTACAATCTCAGCTTACTGCAACCTATGCCACCTGGGCTCAAACAGTCCTCTCACCTCATCTTCTCATCTGTGGGACCACCACGCCCAGCTAAGTTTTGTACTTTTGGTAGAGACAAAGTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGAGCTCAAGCGATCCACCCGCCTCAGCCTCTCAAAGTGTTGGGATTACAGGTGTGGGCCACCACACCCAGCTGCACGGTTGTTTAAGTACATCCTTAGGATGCAGTCCTAGAAGTGGCATCGTTTAGTCAAAAGGCACAGACTAAAAGGCTTTTGCTAAATGTTGCCCCAAGTTTCCCTCCTGAAAAACTGTATGAGTTTAAACTGGGTGTAAGTGAGGAGATTGGGACTTTAGACCAGGCACTCACTCAGAGGAGTTACTGACAGGGCAGGGAGGGACGGGGGCTCCAGAGAAATTGGAGTGTTTGCGCTTCTTGTTTGCAGATGAGCCTTCCCAGCGTCCCCGTCTTCCTAGAGGTTTCTGGCCAGTTTGATGTTGAGTTCCGGCTTGCCGCGGCCTGCCGCAATGGAAACATCTATATTCTGAGAAGGTAGCCACATCGTGGTCTCCGGGGCCGGGAGGAACATCTCAGAAAACTGGTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGAN | benign | 178,886 |
Considering the variant on chromosome 11, location 66523475, involving gene BBS1, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGACAGTGTGTTGTTTATTCCACAGAGACTCCAAGCACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAAGCAGCAGCCCCTCCACGCCTATGTCCCTAGCCCCCACTTGGCAAGAGAGTCCTCTGGCTTCCCCACCCCAGAAACCGTTCTTTCCACTGTAAGCCCTGAGCCCTCCACAGACGCTGGCTGTTCCCTGCCAGGGGAAGAAGCTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGTGAGCCCCATCTCCGGCATCTGCCACTCACTCCTCCTTGCCCTCGTCTCACCTCTGGGGCTTCTTAGCTGCCTCTTCCGACCACACATTGATGCATTTCAAAAACATTTGTTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTAAGGAGTTCAAAACCAGCCTAGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACAC | GTGGCTTCAGAGGCTTGCAAGATGAGAGTGGGCTTTAAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGACAGTGTGTTGTTTATTCCACAGAGACTCCAAGCACCCCAAGTCTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAAGCAGCAGCCCCTCCACGCCTATGTCCCTAGCCCCCACTTGGCAAGAGAGTCCTCTGGCTTCCCCACCCCAGAAACCGTTCTTTCCACTGTAAGCCCTGAGCCCTCCACAGACGCTGGCTGTTCCCTGCCAGGGGAAGAAGCTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGTGAGCCCCATCTCCGGCATCTGCCACTCACTCCTCCTTGCCCTCGTCTCACCTCTGGGGCTTCTTAGCTGCCTCTTCCGACCACACATTGATGCATTTCAAAAACATTTGTTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTAAGGAGTTCAAAACCAGCCTAGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACN | pathogenic | 178,888 |
Classify the chromosome 11 variant at position 66523511 affecting gene BBS1 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1', 'Retinal_dystrophy'] | AAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGACAGTGTGTTGTTTATTCCACAGAGACTCCAAGCACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAAGCAGCAGCCCCTCCACGCCTATGTCCCTAGCCCCCACTTGGCAAGAGAGTCCTCTGGCTTCCCCACCCCAGAAACCGTTCTTTCCACTGTAAGCCCTGAGCCCTCCACAGACGCTGGCTGTTCCCTGCCAGGGGAAGAAGCTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGTGAGCCCCATCTCCGGCATCTGCCACTCACTCCTCCTTGCCCTCGTCTCACCTCTGGGGCTTCTTAGCTGCCTCTTCCGACCACACATTGATGCATTTCAAAAACATTTGTTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTAAGGAGTTCAAAACCAGCCTAGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCC | AAGGCTGGAATTTGGAAATGCAAAGAGCTGAGAACTTCATAAAGGAGGCTGAGCCCACAAACACAGGGGAGGATACCTGGAGGCTTGTGAGATAGGGGCTGGCACAGTGAGAGACTAGGCTGGGTGGCTATAGTACAGGAGTGATCAGAAATGAGAGGACAGGCTGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGACAGTGTGTTGTTTATTCCACAGAGACTCCAAGCACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTACCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAAGCAGCAGCCCCTCCACGCCTATGTCCCTAGCCCCCACTTGGCAAGAGAGTCCTCTGGCTTCCCCACCCCAGAAACCGTTCTTTCCACTGTAAGCCCTGAGCCCTCCACAGACGCTGGCTGTTCCCTGCCAGGGGAAGAAGCTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGTGAGCCCCATCTCCGGCATCTGCCACTCACTCCTCCTTGCCCTCGTCTCACCTCTGGGGCTTCTTAGCTGCCTCTTCCGACCACACATTGATGCATTTCAAAAACATTTGTTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTAAGGAGTTCAAAACCAGCCTAGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCN | pathogenic | 178,891 |
Evaluate this variant at chromosome 11, position 66523750, gene BBS1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGACAGTGTGTTGTTTATTCCACAGAGACTCCAAGCACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAAGCAGCAGCCCCTCCACGCCTATGTCCCTAGCCCCCACTTGGCAAGAGAGTCCTCTGGCTTCCCCACCCCAGAAACCGTTCTTTCCACTGTAAGCCCTGAGCCCTCCACAGACGCTGGCTGTTCCCTGCCAGGGGAAGAAGCTGTGGACAGTGCAGATGCCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGTGAGCCCCATCTCCGGCATCTGCCACTCACTCCTCCTTGCCCTCGTCTCACCTCTGGGGCTTCTTAGCTGCCTCTTCCGACCACACATTGATGCATTTCAAAAACATTTGTTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTAAGGAGTTCAAAACCAGCCTAGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCATCTCAAAAAAAAAGTATGTCACAAGTGAAACTGTGTATGTGTGTGTAAATTGTCCTGTGTCACAGTATAAAATTTGCAAACAACTGGCTTGGGCCATAGGTGCTGGGAGGGCCGGTGGTATGCTCGTTGAAAGAAGGGTAAAGAGGAGAGAACTGACAGAAAAGGCGGGTTGGAGTCAAATGTGGAAGGCCTTCAGTGTCCTAAGAAAGAGAACAAAAGCCATTGGAGGTTTTCTATC | TCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTAACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGCAGGGGGGTGCCGGGTGCATTGCCTCACGCCTGTAATCCCAGCACTTTGGAGGCCAACGTGGGTGGATCATGAGGTCAGGAGATCCAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGGCACAGAGCGAGACTCTGTCTCAAAAAAAAAGAAAAGGAAACAGATGGGAAGAAATAAAAAAAAATTTCCCATATTTGTTACTTTCTAGGGTACATGACATGACACTTGTTTATGCATTAGTTTAATATTCCATATAAAATGCTTTTTTTTTTTTTTATTTTGTGAGACAGAGTCACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGCCAGGCTGGTCTCGAACGCCTGACCTTGTGATCCACCCTTCTCGGCCTCCCAAAGTGCCGGGATTACAGTCATAAGCCACCACACCCGGCCTAACATGCATTTTTTTAATTCAATAAATATTTATTGAGCACCTACTATGCATTATGCAGTGTGTGGTATTAGGGATATATTGATGAACAAGATAAATATGGTCCCTGTCCTCATGGCGAAGACAGATGTATTAAAGTGAAGAAACCAAGATGTTACTACAAATTGGATGAGTGCTATGGAGAAAAAATACAAGCTCAATGGGGAAAAATAACAGGTAAGGGTGATCAGGAACACCTCTCTGTGGAGATGGCTTGAAAGTTAAAAAGGAACCAGTTGGTGAGAAAGTCGGGAAGAGTGTTGTAGGCCAACTCAAAGTGGGAAAGACATTGGCGTGTGCTCCTCGAATAGAGAGGAACTAACTGTACTTTCTGGAAAGGGAAACTAAAATTGAGAGGCCAGTAAACTAAAAACTGCATTGACACAGGGCAAAGCTCTTCATCCTTTTCTCATAATAAAGTGCCTAAGTCCACTTGTCCTGGCTAGTCCAGCCAAAGGTAAACTCACTGAAAACTCTGTTAAATGCTAGATGATCATACAAGCCACCATAGTGAAGGTGGGCGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACAAGACACCATAGTGAAGGTGGGAGGAAGACACACTTGATGTTTTCCAAGGCCACACATTTACTAAGGTGGCAGAAGTGGAAATAATCCCAGGGTCATCTGCTTTGGGGCCAGTGTTCCTCCCAGGTGAGTCCATGAGGTTTAGACAGAGGAGGGTCAGCCATAGAAGTGGAGAGGATTTCTCTGGGGCCAGACAGTGTGTTGTTTATTCCACAGAGACTCCAAGCACCCCAAGTACTGCATCGAGCTGAGCGCCCAGCCTGTGGGACTTATCCGGGTACACAAGGTCCTAGTGGTGGGCAGCACCCAAGACAGCCTGCATGGCTTCACCCACAAGGTGCAGCCCCCAGCAAGCAGCAGCCCCTCCACGCCTATGTCCCTAGCCCCCACTTGGCAAGAGAGTCCTCTGGCTTCCCCACCCCAGAAACCGTTCTTTCCACTGTAAGCCCTGAGCCCTCCACAGACGCTGGCTGTTCCCTGCCAGGGGAAGAAGCTGTGGACAGTGCAGATGCCGCAGCCATCCTGACCATGAACCTCCTGGAGCAGCATTCCCGGGGCCTGCAGGCCGTCATGGCTGGGCTGGCCAATGGAGAGGTCCGCATTTATCGTGACAAGGCCCTGCTCAATGTCATCCACACCCCGGTGAGCCCCATCTCCGGCATCTGCCACTCACTCCTCCTTGCCCTCGTCTCACCTCTGGGGCTTCTTAGCTGCCTCTTCCGACCACACATTGATGCATTTCAAAAACATTTGTTGAGGCCAGGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTAAGGAGTTCAAAACCAGCCTAGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCATCTCAAAAAAAAAGTATGTCACAAGTGAAACTGTGTATGTGTGTGTAAATTGTCCTGTGTCACAGTATAAAATTTGCAAACAACTGGCTTGGGCCATAGGTGCTGGGAGGGCCGGTGGTATGCTCGTTGAAAGAAGGGTAAAGAGGAGAGAACTGACAGAAAAGGCGGGTTGGAGTCAAATGTGGAAGGCCTTCAGTGTCCTAAGAAAGAGAACAAAAGCCATTGGAGGTTTTCTATCN | pathogenic | 178,897 |
Mutation at chromosome 11, position 66526137, within BBS1: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Retinal_dystrophy'] | AGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCATCTCAAAAAAAAAGTATGTCACAAGTGAAACTGTGTATGTGTGTGTAAATTGTCCTGTGTCACAGTATAAAATTTGCAAACAACTGGCTTGGGCCATAGGTGCTGGGAGGGCCGGTGGTATGCTCGTTGAAAGAAGGGTAAAGAGGAGAGAACTGACAGAAAAGGCGGGTTGGAGTCAAATGTGGAAGGCCTTCAGTGTCCTAAGAAAGAGAACAAAAGCCATTGGAGGTTTTCTATCAGAGACCAGACATATTTGTGTTTTTGAAAGGTAGCAAAGGCAGCATTGTGAAGGGCAGACTGGGGAGAAAGACCCGAAAGACGAGTCTGGGAGATCTATTAGGAGGTTGACCCCAAAAGTGAGGGCCAGTGATATTTGGTCTGGAACTGAGGTAGTGAGATTGGAGGGGAGATGAGAAATATAGGAAATATTTCAGAGGCAGCGATTCCCCAGGCCTGTCTCTATCACTTCTCACCTATTATATCTGGGGCCTCCCCTACCCATCCCCTGTCTTGCTTTCCTCTCCAAGATATTTCCCCAACTAAACTCTGACGTCTCCACATAGGATGCAGTGACCAGCCTTTGCTTTGGCCGGTACGGGCGGGAGGACAACACCCTCATCATGACCACTCGAGGTGAGTGGAGTCAGACCTGGCAAGGGCTTTGAAGTCGGGAGTGAAGGGACAGGCCTGCTTCTGGGGAAAGAGGAGGAGGTGGAAATGAAGCATGGGTGGACCTGGGTGTGGAAAGTAAGGCCTACAGAAGTGTCCTTCTGGAGCTAGGCCTCCACTGGGACAGCCCAAGGGCTGGGTCCTGGGCTGGATTCGATCTTTCTAGTTCACCCAGCATCCCCAGTGCCTGCCACGATGCCAGGAACATCACAGTACTCCACAAATAACTGCTAAGTGGATTAATGAATTAATGATGAGAGACTATTAAGATGCACTTTGTTACTTCCAGAAACAGTCTCGTCTGGAAGACGGATGTGTACAGAAGCAACTCTATAGGAGGCAGATTGTTTGGGGAAGAAAGAATGGGAATGTGGGTAGAACTGGGGAGGACAAATCCATTTCCACTGTCCACTTCCCTAGGTGGTGGCCTGATCATCAAGATCCTGAAGCGTACAGCAGTGTTTGTAGAGGGAGGAAGTGAGGTGGGTCCCCCACCAGCCCAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCAGACACTGCGAGAGCGGGAGGCTGGCACCGGTGAGCCTCAGACTGGGTCCTTTCCCTTCTTCCTCCTCCACTGCTCCTACACAGCAAAGCTGGGGGAATGCTGCCCAGCCTCCCTGTGCACTGGGAGGAGATCTCGGCCAACTAGGTAGGTCACTCACCTCTGCAAATCCAGGGACAGCCTAGGAGGTACACGTTGCCTGCAAATCACTGTTCCTCAGGCTGGAAGGTGCTGTGGGTGACAGCAAGAGCCCTTAGAATTCAGGGAAGGGAGCAGTCACTTCCAAACGCAGGAATTCTCATGAGGAAAGTAGAATTTTGACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGCAGAGGTGGGAGGACAGCATGAGCCCAGGAGTTCAAGACCTACCTGGGTAACATAATGATACTTCTTTCTCAAAAAAAAAAAAAGAGAGAGAGAGAAAGAGAAAAGTAGAATTTGACCAGTGTCATCTTGTCCAGTTTTTCCTGCCCGTTTATTTGTTCATTCATTCATCGTTCGTTCATTCATTCATTCAGTACCTATGATTACACCAGGCCTTGTGCCAGGTGCCTTTAATTAGAATAGTCCCTACCTTGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCGGAGATGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGTTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATAGTCCCTACCTTAGGAACTCAGTCTACCTGGGGCCAACTTCATGATCATGTGTAGAAGGGGTTTCTGCAAAGAGCTTTTGGAGCACACAGAGGGAGTAAGGACTTCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTC | AGCCAACATGGCATAACCCCCTTGCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTACCTGTAATCCCAGCTACTCAGGAGGTTGAGGTAGGAGAATCGCTTGAGCCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCAAACCATGGCACTTCAGCCTGGACAACAGAGCGAGACTCCATCTTAAAAAAAAAAAAAATGTGTTGAGCACCTCATATGTACCAGTCACCATATTGGTAGGGGTGGGGGGTAAAATGATGACTAAGTCCTTGTTTTCAGGAGGCTTACAGTCTAAGGTAACAGCCAGCCAGAGACATAGCAAATTTAAAAGGGCCGACTGAAGCAGAGCAAAGTGCTAAAAAGCGCAGAGGGTGCTGAGTGACAAGGGTGGGGGGTGAGATAAATGGGGATGGACTCCATGGGACACTTCACAGAACAAGTGACAGTTCAACTGGGCCTCAGAACAGTTTGTCAGGTGGACAAATGGAGGAAGAACATTCTGCACAGAGAATAGCATGCACAAAGCCTGAGAAGTATGAAGGCTCTTGATTAAGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCATCTCAAAAAAAAAGTATGTCACAAGTGAAACTGTGTATGTGTGTGTAAATTGTCCTGTGTCACAGTATAAAATTTGCAAACAACTGGCTTGGGCCATAGGTGCTGGGAGGGCCGGTGGTATGCTCGTTGAAAGAAGGGTAAAGAGGAGAGAACTGACAGAAAAGGCGGGTTGGAGTCAAATGTGGAAGGCCTTCAGTGTCCTAAGAAAGAGAACAAAAGCCATTGGAGGTTTTCTATCAGAGACCAGACATATTTGTGTTTTTGAAAGGTAGCAAAGGCAGCATTGTGAAGGGCAGACTGGGGAGAAAGACCCGAAAGACGAGTCTGGGAGATCTATTAGGAGGTTGACCCCAAAAGTGAGGGCCAGTGATATTTGGTCTGGAACTGAGGTAGTGAGATTGGAGGGGAGATGAGAAATATAGGAAATATTTCAGAGGCAGCGATTCCCCAGGCCTGTCTCTATCACTTCTCACCTATTATATCTGGGGCCTCCCCTACCCATCCCCTGTCTTGCTTTCCTCTCCAAGATATTTCCCCAACTAAACTCTGACGTCTCCACATAGGATGCAGTGACCAGCCTTTGGCCGGTACGGGCGGGAGGACAACACCCTCATCATGACCACTCGAGGTGAGTGGAGTCAGACCTGGCAAGGGCTTTGAAGTCGGGAGTGAAGGGACAGGCCTGCTTCTGGGGAAAGAGGAGGAGGTGGAAATGAAGCATGGGTGGACCTGGGTGTGGAAAGTAAGGCCTACAGAAGTGTCCTTCTGGAGCTAGGCCTCCACTGGGACAGCCCAAGGGCTGGGTCCTGGGCTGGATTCGATCTTTCTAGTTCACCCAGCATCCCCAGTGCCTGCCACGATGCCAGGAACATCACAGTACTCCACAAATAACTGCTAAGTGGATTAATGAATTAATGATGAGAGACTATTAAGATGCACTTTGTTACTTCCAGAAACAGTCTCGTCTGGAAGACGGATGTGTACAGAAGCAACTCTATAGGAGGCAGATTGTTTGGGGAAGAAAGAATGGGAATGTGGGTAGAACTGGGGAGGACAAATCCATTTCCACTGTCCACTTCCCTAGGTGGTGGCCTGATCATCAAGATCCTGAAGCGTACAGCAGTGTTTGTAGAGGGAGGAAGTGAGGTGGGTCCCCCACCAGCCCAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCAGACACTGCGAGAGCGGGAGGCTGGCACCGGTGAGCCTCAGACTGGGTCCTTTCCCTTCTTCCTCCTCCACTGCTCCTACACAGCAAAGCTGGGGGAATGCTGCCCAGCCTCCCTGTGCACTGGGAGGAGATCTCGGCCAACTAGGTAGGTCACTCACCTCTGCAAATCCAGGGACAGCCTAGGAGGTACACGTTGCCTGCAAATCACTGTTCCTCAGGCTGGAAGGTGCTGTGGGTGACAGCAAGAGCCCTTAGAATTCAGGGAAGGGAGCAGTCACTTCCAAACGCAGGAATTCTCATGAGGAAAGTAGAATTTTGACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGCAGAGGTGGGAGGACAGCATGAGCCCAGGAGTTCAAGACCTACCTGGGTAACATAATGATACTTCTTTCTCAAAAAAAAAAAAAGAGAGAGAGAGAAAGAGAAAAGTAGAATTTGACCAGTGTCATCTTGTCCAGTTTTTCCTGCCCGTTTATTTGTTCATTCATTCATCGTTCGTTCATTCATTCATTCAGTACCTATGATTACACCAGGCCTTGTGCCAGGTGCCTTTAATTAGAATAGTCCCTACCTTGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCGGAGATGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGTTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATAGTCCCTACCTTAGGAACTCAGTCTACCTGGGGCCAACTTCATGATCATGTGTAGAAGGGGTTTCTGCAAAGAGCTTTTGGAGCACACAGAGGGAGTAAGGACTTCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTCNNNNN | pathogenic | 178,904 |
Is the chromosome 11, position 66526695 variant in BBS1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Retinitis_pigmentosa'] | AGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCATCTCAAAAAAAAAGTATGTCACAAGTGAAACTGTGTATGTGTGTGTAAATTGTCCTGTGTCACAGTATAAAATTTGCAAACAACTGGCTTGGGCCATAGGTGCTGGGAGGGCCGGTGGTATGCTCGTTGAAAGAAGGGTAAAGAGGAGAGAACTGACAGAAAAGGCGGGTTGGAGTCAAATGTGGAAGGCCTTCAGTGTCCTAAGAAAGAGAACAAAAGCCATTGGAGGTTTTCTATCAGAGACCAGACATATTTGTGTTTTTGAAAGGTAGCAAAGGCAGCATTGTGAAGGGCAGACTGGGGAGAAAGACCCGAAAGACGAGTCTGGGAGATCTATTAGGAGGTTGACCCCAAAAGTGAGGGCCAGTGATATTTGGTCTGGAACTGAGGTAGTGAGATTGGAGGGGAGATGAGAAATATAGGAAATATTTCAGAGGCAGCGATTCCCCAGGCCTGTCTCTATCACTTCTCACCTATTATATCTGGGGCCTCCCCTACCCATCCCCTGTCTTGCTTTCCTCTCCAAGATATTTCCCCAACTAAACTCTGACGTCTCCACATAGGATGCAGTGACCAGCCTTTGCTTTGGCCGGTACGGGCGGGAGGACAACACCCTCATCATGACCACTCGAGGTGAGTGGAGTCAGACCTGGCAAGGGCTTTGAAGTCGGGAGTGAAGGGACAGGCCTGCTTCTGGGGAAAGAGGAGGAGGTGGAAATGAAGCATGGGTGGACCTGGGTGTGGAAAGTAAGGCCTACAGAAGTGTCCTTCTGGAGCTAGGCCTCCACTGGGACAGCCCAAGGGCTGGGTCCTGGGCTGGATTCGATCTTTCTAGTTCACCCAGCATCCCCAGTGCCTGCCACGATGCCAGGAACATCACAGTACTCCACAAATAACTGCTAAGTGGATTAATGAATTAATGATGAGAGACTATTAAGATGCACTTTGTTACTTCCAGAAACAGTCTCGTCTGGAAGACGGATGTGTACAGAAGCAACTCTATAGGAGGCAGATTGTTTGGGGAAGAAAGAATGGGAATGTGGGTAGAACTGGGGAGGACAAATCCATTTCCACTGTCCACTTCCCTAGGTGGTGGCCTGATCATCAAGATCCTGAAGCGTACAGCAGTGTTTGTAGAGGGAGGAAGTGAGGTGGGTCCCCCACCAGCCCAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCAGACACTGCGAGAGCGGGAGGCTGGCACCGGTGAGCCTCAGACTGGGTCCTTTCCCTTCTTCCTCCTCCACTGCTCCTACACAGCAAAGCTGGGGGAATGCTGCCCAGCCTCCCTGTGCACTGGGAGGAGATCTCGGCCAACTAGGTAGGTCACTCACCTCTGCAAATCCAGGGACAGCCTAGGAGGTACACGTTGCCTGCAAATCACTGTTCCTCAGGCTGGAAGGTGCTGTGGGTGACAGCAAGAGCCCTTAGAATTCAGGGAAGGGAGCAGTCACTTCCAAACGCAGGAATTCTCATGAGGAAAGTAGAATTTTGACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGCAGAGGTGGGAGGACAGCATGAGCCCAGGAGTTCAAGACCTACCTGGGTAACATAATGATACTTCTTTCTCAAAAAAAAAAAAAGAGAGAGAGAGAAAGAGAAAAGTAGAATTTGACCAGTGTCATCTTGTCCAGTTTTTCCTGCCCGTTTATTTGTTCATTCATTCATCGTTCGTTCATTCATTCATTCAGTACCTATGATTACACCAGGCCTTGTGCCAGGTGCCTTTAATTAGAATAGTCCCTACCTTGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCGGAGATGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGTTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATAGTCCCTACCTTAGGAACTCAGTCTACCTGGGGCCAACTTCATGATCATGTGTAGAAGGGGTTTCTGCAAAGAGCTTTTGGAGCACACAGAGGGAGTAAGGACTTCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAGAGCCAGACTCCGTCTCAAAGAAAAAGAAAATGTACAAAGTCTAATAAAGTTGTAAAACTATCTTCAAGAACAGAAAAGACCACCTTCAAGAATGCTTAAGTGGAGAGAGTTACCAAGTTGCAGGATGGGAAGACCTAATGCTGTAAAGCTTGAAGTTGCAGTTAAAATCCCAGTGGGGTTTGTTTTAAGGACCTGGCCAGTTGATTCAAAGAGTAAACCTAAGAAGATTGGGGAAAATAAGAATGAGGGGACTTACCCTATCAGGTAGCAAAATGAACTCAAGCTGTGGGAATCAGAAGCTGTGGTGTGGATGCAGAAATAGAATGGAGATCAGGGCAGGATTAGGAAGTCCAGAAACTGACCCTGAACATGTGGAAAGTCAGAGTGTGTGAAAGGTGTCATTTTGAATTGGCAGGGAGATGTGAGACTGTCCAAAAACACACAATCAGGACAACTTGCTTCTAGAAAAGAAAATTAGACCTTTTCGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGG | AGGAATCCAGGTCATTTGATGAGTTTGGACCAGAGGTTTTCAGACTCTAAGTTGTGAATCATTAAATCAGTTTAGTAGATCACAACCAGCAACATTTTTAAAAATAGAATAGTAAATTCAAAGTATGTCACAAGTGAGGGCCAGGCACATTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCTGAGGCAGGCGATCACAGTTCTGGAACAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATAAACAAATTAGCCGGGTATGGGCCGGGCACGGTGGCTCACGTCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACAAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGCCGGGTGTGATGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCAAAGGTTGCAGTGAACTGAGATCGCGCCACTGCACTCCAGCCTGGGCCACAGAGCAAGACTCTGTCTCAAAACAAAAAAACAAAACAACAAAAATAAATAAATAATTACAAATACAAATAGAAAAATTAGCCAAGCATGGTGGTGCATGCCTATAATCGCATCTACTGGGAAGGCCGAGGCAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGGAGATCACACCACTGCACTCCAGCCTGGGCAATGAAGTGAGACTCCATCTCAAAAAAAAAGTATGTCACAAGTGAAACTGTGTATGTGTGTGTAAATTGTCCTGTGTCACAGTATAAAATTTGCAAACAACTGGCTTGGGCCATAGGTGCTGGGAGGGCCGGTGGTATGCTCGTTGAAAGAAGGGTAAAGAGGAGAGAACTGACAGAAAAGGCGGGTTGGAGTCAAATGTGGAAGGCCTTCAGTGTCCTAAGAAAGAGAACAAAAGCCATTGGAGGTTTTCTATCAGAGACCAGACATATTTGTGTTTTTGAAAGGTAGCAAAGGCAGCATTGTGAAGGGCAGACTGGGGAGAAAGACCCGAAAGACGAGTCTGGGAGATCTATTAGGAGGTTGACCCCAAAAGTGAGGGCCAGTGATATTTGGTCTGGAACTGAGGTAGTGAGATTGGAGGGGAGATGAGAAATATAGGAAATATTTCAGAGGCAGCGATTCCCCAGGCCTGTCTCTATCACTTCTCACCTATTATATCTGGGGCCTCCCCTACCCATCCCCTGTCTTGCTTTCCTCTCCAAGATATTTCCCCAACTAAACTCTGACGTCTCCACATAGGATGCAGTGACCAGCCTTTGCTTTGGCCGGTACGGGCGGGAGGACAACACCCTCATCATGACCACTCGAGGTGAGTGGAGTCAGACCTGGCAAGGGCTTTGAAGTCGGGAGTGAAGGGACAGGCCTGCTTCTGGGGAAAGAGGAGGAGGTGGAAATGAAGCATGGGTGGACCTGGGTGTGGAAAGTAAGGCCTACAGAAGTGTCCTTCTGGAGCTAGGCCTCCACTGGGACAGCCCAAGGGCTGGGTCCTGGGCTGGATTCGATCTTTCTAGTTCACCCAGCATCCCCAGTGCCTGCCACGATGCCAGGAACATCACAGTACTCCACAAATAACTGCTAAGTGGATTAATGAATTAATGATGAGAGACTATTAAGATGCACTTTGTTACTTCCAGAAACAGTCTCGTCTGGAAGACGGATGTGTACAGAAGCAACTCTATAGGAGGCAGATTGTTTGGGGAAGAAAGAATGGGAATGTGGGTAGAACTGGGGAGGACAAATCCATTTCCACTGTCCACTTCCCTAGGTGGTGGCCTGATCATCAAGATCCTGAAGCGTACAGCAGTGTTTGTAGAGGAAGTGAGGTGGGTCCCCCACCAGCCCAGGCCATGAAACTCAATGTGCCCCGAAAGACCCGGCTTTACGTGGATCAGACACTGCGAGAGCGGGAGGCTGGCACCGGTGAGCCTCAGACTGGGTCCTTTCCCTTCTTCCTCCTCCACTGCTCCTACACAGCAAAGCTGGGGGAATGCTGCCCAGCCTCCCTGTGCACTGGGAGGAGATCTCGGCCAACTAGGTAGGTCACTCACCTCTGCAAATCCAGGGACAGCCTAGGAGGTACACGTTGCCTGCAAATCACTGTTCCTCAGGCTGGAAGGTGCTGTGGGTGACAGCAAGAGCCCTTAGAATTCAGGGAAGGGAGCAGTCACTTCCAAACGCAGGAATTCTCATGAGGAAAGTAGAATTTTGACTGGGCATGGTGGCTCACGCCTGTAATCCCAACACTTTGGCAGAGGTGGGAGGACAGCATGAGCCCAGGAGTTCAAGACCTACCTGGGTAACATAATGATACTTCTTTCTCAAAAAAAAAAAAAGAGAGAGAGAGAAAGAGAAAAGTAGAATTTGACCAGTGTCATCTTGTCCAGTTTTTCCTGCCCGTTTATTTGTTCATTCATTCATCGTTCGTTCATTCATTCATTCAGTACCTATGATTACACCAGGCCTTGTGCCAGGTGCCTTTAATTAGAATAGTCCCTACCTTGGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCACCACTTTGGGAGGCGGAGATGGGCAGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAACATTAGCCAGGCGTGTTGGCATGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAGAATCGCTTAAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTTGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATAAATAATAGTCCCTACCTTAGGAACTCAGTCTACCTGGGGCCAACTTCATGATCATGTGTAGAAGGGGTTTCTGCAAAGAGCTTTTGGAGCACACAGAGGGAGTAAGGACTTCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAGAGCCAGACTCCGTCTCAAAGAAAAAGAAAATGTACAAAGTCTAATAAAGTTGTAAAACTATCTTCAAGAACAGAAAAGACCACCTTCAAGAATGCTTAAGTGGAGAGAGTTACCAAGTTGCAGGATGGGAAGACCTAATGCTGTAAAGCTTGAAGTTGCAGTTAAAATCCCAGTGGGGTTTGTTTTAAGGACCTGGCCAGTTGATTCAAAGAGTAAACCTAAGAAGATTGGGGAAAATAAGAATGAGGGGACTTACCCTATCAGGTAGCAAAATGAACTCAAGCTGTGGGAATCAGAAGCTGTGGTGTGGATGCAGAAATAGAATGGAGATCAGGGCAGGATTAGGAAGTCCAGAAACTGACCCTGAACATGTGGAAAGTCAGAGTGTGTGAAAGGTGTCATTTTGAATTGGCAGGGAGATGTGAGACTGTCCAAAAACACACAATCAGGACAACTTGCTTCTAGAAAAGAAAATTAGACCTTTTCGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGNNNN | pathogenic | 178,909 |
The mutation in gene BBS1 at chromosome 11, position 66529855—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAGAGCCAGACTCCGTCTCAAAGAAAAAGAAAATGTACAAAGTCTAATAAAGTTGTAAAACTATCTTCAAGAACAGAAAAGACCACCTTCAAGAATGCTTAAGTGGAGAGAGTTACCAAGTTGCAGGATGGGAAGACCTAATGCTGTAAAGCTTGAAGTTGCAGTTAAAATCCCAGTGGGGTTTGTTTTAAGGACCTGGCCAGTTGATTCAAAGAGTAAACCTAAGAAGATTGGGGAAAATAAGAATGAGGGGACTTACCCTATCAGGTAGCAAAATGAACTCAAGCTGTGGGAATCAGAAGCTGTGGTGTGGATGCAGAAATAGAATGGAGATCAGGGCAGGATTAGGAAGTCCAGAAACTGACCCTGAACATGTGGAAAGTCAGAGTGTGTGAAAGGTGTCATTTTGAATTGGCAGGGAGATGTGAGACTGTCCAAAAACACACAATCAGGACAACTTGCTTCTAGAAAAGAAAATTAGACCTTTTCGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAATACAAAAAATTAGCCAGGCTTGGCGGCGCGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCA | TCTGCCTGGGAAGCTTGGGAAAGGCTTCAGAGCGAGGTGACTTTGGGCTTCACCCTAAAAGATGATAGCCAGACCCCCAGACAGGGCAGGGCAGGGTAATATAGGCAGAGGCACAGGGTGTTGACCTGGATTCAAGAAAGCAGGCCCGGTTCGGTGGCTCATGCCTATAATCCCAGCTCTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGGTCAGGAGTTCGTGACCAGCCTGGCCAACATGGTGAAACCCCCTTGCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACACGCCTGTAATCTCCTTAGGCAGGAGAATCACTTGAACCTAGGAGGCAAAGGTTGCAGTGAACCAAGATCACGCCACTGCACTCCAGCCTGGGTGACAAGAGCCAGACTCCGTCTCAAAGAAAAAGAAAATGTACAAAGTCTAATAAAGTTGTAAAACTATCTTCAAGAACAGAAAAGACCACCTTCAAGAATGCTTAAGTGGAGAGAGTTACCAAGTTGCAGGATGGGAAGACCTAATGCTGTAAAGCTTGAAGTTGCAGTTAAAATCCCAGTGGGGTTTGTTTTAAGGACCTGGCCAGTTGATTCAAAGAGTAAACCTAAGAAGATTGGGGAAAATAAGAATGAGGGGACTTACCCTATCAGGTAGCAAAATGAACTCAAGCTGTGGGAATCAGAAGCTGTGGTGTGGATGCAGAAATAGAATGGAGATCAGGGCAGGATTAGGAAGTCCAGAAACTGACCCTGAACATGTGGAAAGTCAGAGTGTGTGAAAGGTGTCATTTTGAATTGGCAGGGAGATGTGAGACTGTCCAAAAACACACAATCAGGACAACTTGCTTCTAGAAAAGAAAATTAGACCTTTTCGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAATACAAAAAATTAGCCAGGCTTGGCGGCGCGTGCCTGTAATTCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGATTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGG | pathogenic | 178,917 |
Does the genetic variant at chromosome 11, position 66530933, impacting gene BBS1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['BBS1-related_disorder', 'Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | TTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGG | TTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACGCCATTGCACTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGNN | pathogenic | 178,927 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 66530982, gene BBS1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCT | CTCCAGCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTN | pathogenic | 178,929 |
Variant chromosome 11, position 66530987, gene BBS1: benign or pathogenic? Disease(s)? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTC | GCCTGGGTAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAGGAAGAAAATCAGACCTTTTCTTCATACCAGCCACAAAAATTAATTCTGGATAGATTAAAAATAAATTGTAAAAGTACTAGAGAAAAAGCACATAAAATGTGAAACTCTTGAATGGCAGAAGCCACTTCACACATAAACGGAAGAGCGAAGCCAGCCTGGGGGACCGAGGTGCCCAGTCTGGAAGAGGAGGGACAGTGGGGTGGGGGCGGGGTGGGCCCTGGAGGTGGCTTGGGGAAGAGTCATGTGATCCTGCAAACGGTGAGATGTGAGGGGTGGACCTAGGTGACTTGATGGACAGGGAGGCAGTGACGGAGGCAGGACCATGAGGCTGGTTTCCGCAGCATTGAGCCTGAGGTGTTGATGGGACCTCCCTGTGGAGATGAGCAGGAGGCAGGCGAGGGTGCTCACTAAGCTGCTGGAGACACATGCACAATATCGAGCGTGGACACCAAGGACTCCTCTTTGTGGTGGTCAGAGCTGTGGCAGGACATGGATTGTCTGGGGGAAGAAGATGGAGGATGAGAAGAGGACCATGGACCAGACTCAGGAGAACACCAGCCTCTAGGGCCGGACAGAGAAGCCAGTGAAGGAGCTAGATAGTGCAGGCAGGGAGGTGGTAAGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCNNN | pathogenic | 178,930 |
Does the genetic variant at chromosome 11, position 66531658, impacting gene BBS1, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Bardet-Biedl_syndrome'] | AGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTT | AGAGAGTGAGAAGAGGCAGGGCGAGGCCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTN | pathogenic | 178,935 |
Is the chromosome 11, position 66531684 variant in BBS1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | CCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTTCTAGACACTTCCCTTCATCCCCTGC | CCACGGCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTTCTAGACACTTCCCTTCATCCCCTGCN | pathogenic | 178,936 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 11, position 66531689, gene BBS1. What disease(s) is it linked to if pathogenic? | pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_1'] | GCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTTCTAGACACTTCCCTTCATCCCCTGCTTCAC | GCGTCGAGTTTTGCCAGAAGGCTGGGCTCTTTCCCTCCTCCCCAGCTCCTGCAGACTCCTCCTGCAGCACCCTCCTCTTGCACCCTCCCCACACCAACCTGAGCAGGAGTGCCCCGTTGCTGCCTCCTCCCTGCCACCCCCCACCTCCACCGTCAGCCTCTGGGACCCTTCTCCACAGCCATGCACCGGGCCTTCCAGACAGACCTATACCTGCTGCGCCTACGTGCTGCCCGCGCCTACCTGCAGGCCCTCGAGTCCAGCCTGAGCCCCCTGTCCACGACAGCCCGAGAGCCACTCAAGCTGCACGCCGTGGTGAGCATCTGGGTGAGGGCAGAGTCAGGGCCAGAGGGGCAGAGGCCAGGATGCGCAGGAACCCCTCTGCCACACAGCTAAGCCCCAGAGCCAATTCCAAGCCAACTCAGCCCGTGCTCCCCATCACCTTCCCGCAGACCTGGGGACCGAGTCTCATGTCCTCCTTTGTGAGAGCAGCCCTCACCTTCCCACCCTCCTGTGCCACCTCTCCCCTCGGCTGGCCATGCCGTGGGACACTCTCCAGCTCAGATAGGCCCCCAGAATAGTCATATTAGGACATTTCTTCCCAAGAACCTGAAGGGATCCTTACAGCTATGGTACAAGGAAGAAGGCTGTCACTTTGGTAACTGTGGGCAGCCCAACGTGTTAGGACTGCTGGGTACAGGGAAGGGGCCATCCCGGCCTCACCCGCAAGCACCGAGACCAGCACGGGCAAAAGGAGGAACCCCGCAAGGCTCAGACGCAAATGAGCTTAGGGTCAGCAGGGCTCGGACCAGCCCTAAATGCGTCCCTGAGGTGTGGCATCTGACCCAACCAGGTTCTGAGTTCTCTTTTCCTAAAGAGTGGATAGATGCAGAGGAGGAAGAGGCTACAAGGCAACTCTGGGGAAGCAGGAGAAAAATGAACTGATCAAGCTACCCTAGGATGAGAGTGGGAGGTGGAACAGGCAGGGGGTGGGGGTGAGGGGCTCAGGTGAGAGTCGGGGCCTGCAGTCCCAGGCCAGCTCTGCCTCTGACTTGCTGCCTGGCCTCCCTCAGGCTCTTGCCCTCTCTGGCCTCTTCTGATCCCTCTGCCCCTTCTGGTCTTCTGTGTCTGCTGGGAGGCAGATTGAGTAGGAGGAGGGGACATGAGGGCATTGGTGGAAGGCAGGCAGAGCACACTGTACTCCGTGCCCAAGGCTGCCAGGTCCTAAGGGCTTTCTCCACCCACCCTCTCCATAGGTTCAGGGCCTTGGCCCCACCTTTAAGCTCACACTTCACCTGCAGAACACCTCAACAACCCGTCCTGTCCTGGGGCTGCTGGTCTGCTTCCTGTACAACGAGGCGCTCTATTCCCTGCCCCGGGCCTTCTTCAAGGTACTGGATGCTCCTCACTTAGATATGGAGTGGGAAAGGCCAGGGCAGGGGCCTGATGAGATGCCCACAGAGCCCCGCCAGGTCAGGGTCAGAGCGTGCGGGTGGCTGCCAGGTGGCCAGCAGACCTACTCTCCCACCACAGACCAGGCCAAGGCCCCAGTAGGGGCCTCTGGAGGGAGCCCCAAGCCCTGCCTCTGCTGCTTTTCTTGCAGCCTGTGAGGGGTCTCCACGAGCCATACAGAAGGTGCTGGGAAAACTGCTAGAGCCTGAACCCCACCTACACCTCCCAGAAGGGTCTGGGGGACCCCAGAGTGTGAAGGGCCTGGTTTTCCCCCAGGGCCCAGGTCTGACCCCAAGTTGGGAGGACCAGAAAATGCAAAAGGCTGGAATATGCAATAAACAGCCCCAGACTTGGTGGGAGTCCAGAGGTCTAGGTTTCATCACTCACCATGAGGCCCTGGGCCATTCACTTCCCCACCACACCTGCATCCTCCTCCACCCAGCAGTTGTCCTGCCCACCCTGCAGGGGTGCTGAGGCTCAGTGGAGACTGCGGGCCTGAATGCACTGGAATATGCCAAACACTGGCACGAGGGCTGGTTTCCTTACTTCTTTGTCCCCAAACTTAGGTACCCTTGCTGGTGCCAGGGCTCAACTACCCCCTTGGAGACCTTTGTGGAGAGTCTCAGTAACAAGGGCATCTCAGACATCATCAAGGTAGGCCCCGCACTTGTACCACGTGGAAGGTGAGCAGGACCCTGGGGAGGACAGTAAGGGTGAGTGCCAACAAAGACCTTAGGGGGCTCCTGGGTGGGGGTGGGGGTATCTGCACAGTGGAGCCCTGTGGCCTGTCATTAGGGCCAGCGCAGACCAGGCAAGGGGTCAGGGGTGTATGCCCCCTGCTGCCATGGCCACTCCTCCATAGGTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAGTGCCCACGTCAACATGCCTGGGAGCGAGGGGCTGGCGGCCGCCTGAGACCTGAGCTGCTGTGAAAGCCCCTGCACAATCAGCCAGGGAGAACTGGGCGGGTTTAGTGGCCCCAGGCCCACTCCTCATGCAGCAGTGTGCTGGGGCGACAGCTCGTCTCCCCTCTCTTAAGCACCCGCTTCCTCACCACCCCCACTGTTGGGCCTATAGTAGCAGGTTAGTGAGTACCTAGGGCGGCTCAACTCCTCCCACAGCACCAACCCAGCATGGTCCCACTGAAGTCCTACTACGCCCTCCCCTCCCCAGCCTTTTCCAGAAACCATACTGGGCTCAGATCAGAGCTCCGAAGCGGTCAAAGTGAGCTGAGCAGGACAGGCCCAGCCTTTCTCCACTGCCACGTCCCTCATGCACATCACTCATCTCCTGCTGCAGGCCAAGGCCAAAATTGGGCTAGTCCTGGCCAGGGAAATCAGAAGCTCTTCTTGGGTGAGATTGAGCCTCCTGTTGCTCCCTGGAGTTCCGGAGGCTGGGCTGCAGCCCACTCAGCTTGCGGGCAAAATACGTGCTCTCCTCTCTCCTTGTCAGCTGAGCAAACCCAGGGAATAGCCCTCCTCTCCCCAGGAAACTTCTCTGAAATCTTAGACTTAGCCAGTCTTAGGCCTACGATGCCACACAAAGGTTGTTCAGGGAGAAGGGGGTGCAGGAGGCAGAGGGTGCCCCGCAGGGAGCTGGTGGCTCCAGCCCCACTAGAGCTCCTAAAGATCACACAGCAGCTGCTCCTGACAGGGATGCTCATGCCCAGAAAGCAAGCCCAGGAGAGGAAGGCAGAGTGTGACAGAGCAGAGCCAGGGCCAGGCGCACCAGGAGAGGCGTTTCTGGGGCTCCAGAGAAGTGCCACGGGAGGCAGAAGTCCAGAACTGCCCATATAGATGCCCTTCTACATCCTGGAGCCCAAATCAGTCATGTGGGTGGGAAGTTCCCAGGGCAGTGGTCACATCGTGAGAATTAGCAGGAAAGGCGGGGCCTTTCTTGTCATAGCTATTTCTGAGGATGAAATGGGAGACATATGCCCAGCACCTGATGTAAGTTTATATAATGTAATATTATGTACCTACCACTAAGAAATACATGAACCGTGCCATGAGGACAGTAAGTGTTCATAAAGCAACATGAAGCAAGAAACAGTGCAGGGTGCCCAGTGCACACACTAGAGAGAAATTGTGAACATTAAGGACAAGGAGAATTGGTGTCTTTCTAAAACATACTTATTTAAAAACACATACCCACTTACTAATGTGGAATTACACAGTTTGTAACAAGAAAACAGTCTCTCCCATTCTCTAGTACTGCTCCCCTACCCAGCAGTCACTTCCAGTTCATTCAGCTATTTTTAAAATGTGCTTATATGACTCTTGCTTGATATATCAATCTTAGACATTACCTGTTGACTCCCTGTTGTCATACATGAGGCTTTAGCTCTCTTTTGTCAGCAACCCTCCCCCATCCCTAGTTATTAGGTTAAAAAATACTCAGATTACTATTTCTATTACTATGTGAAAGTTAACTGCGGAGCCAAGAGTTGGACTATAATTAAATTACCTTCCTTGTACTTTCTTTTTAATGGAGTTAATGAGTTGCCCTGAGTTTCTCATTTACTTTGTTTTCTGATGGACTGATTGCTAATTCTTCCCCCACCATCTGACAGCTCCTCTTTTTTCTAGACACTTCCCTTCATCCCCTGCTTCA | pathogenic | 178,937 |
A genetic variant on chromosome 11, position 66565712, affects the gene CTSF (cathepsin F). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Neuronal_ceroid_lipofuscinosis'] | CCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGCCCATGCAGGCCTTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCAGCCTCTGCCCCATCCCACCCTGCCAGAGTGATGGAGATGCAGAGCTTCTTTTTTTTTTTTTTGAGACAGAGTTTTCGCTTGTCACCCATGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGTATACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTACTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTACTGCGATTACAGAGGTGAGCCACCACGCCCGGCCAAGACCCATGGCTTCTGAGCGGGAAGATAAGGTAGGAGAAGGGGCCAGGTACTCAGGGTGGCTGCCAGGCTGGGAAGGCTTAGGGAGAGCTCAGGAATTATGGGGTCCTTGAACAGGTACACTGCCTCTTGTCTTTCTCCTCCCACACACCAAGGTGCCAAGTTGGGGGGAAAGTCCTGTTCTGATAGGAACAGGTACAGCCAAGGCTGGGTCCTCACCTTCCTTTGACTCATATGTCCGGTTATAGGTAATGACAAAGTTCTTGAAGATTGAAGCCATCTTCACAGGCAAGTCCTGGATAGGCAGACCAGTCTTTAGGCTGACCAGAGAAACCCACTCCAGAGGGAAGGGAGAAGGGTGATGAGGCAGCGGCTGGCTCCTCAAGCTGAGGGCTCCTCAAGCTGAGGGCTCCTCACCTGGGACAGGGGATCCTCATTCAACAGGGAAATGACTGAGCTGAAAGTCTCGTTTCTGTTGTCTGGATGGTTTTGGGACAGAGAAGAAATCATGGCTGAGCCCTGAGTGAAGGCTGACTTGGGCTCCCCAGCACCTGGAACCTTGGTGTCCACTGGGCCACAGTCCTTCCGCAGCAGCACGTGTCTTCCGAGCTCATCCAGGACTTGGAAGCTGCAGAGCTGGAGGGAGAGGAAGAAGCTGCTCTGGGGGCCTGGATCTGGATCTGGGGAGCAAGATCTGGCCAAGATGGAGCTGGAGGCTCCTCAGATGAGAGCC | CCAGCTTCAACTGCCAAGATACCACCCTTCACCCCGACATCCTCCTAAGCTACCACAATTCAACAAAGGTGCAGGTGCAGAACTTCAGGGTGGGAATGGGGTGCAGGGAAGCAGGGGCTGTGCCCCAGCCCAGTGCCCTCTGCTCACCCTGAGGTACCCAGTGCCTTTCCCTCTGCCAGCTGTACCTCCCGGGGAGGGGCCTGGACACATGTCAGGCTGGGGCAGCAGCCACTCTGATCAGCACCAGGTCCCGAGCTGGGGGCCCCTCTTCAGTCCACCACCGCCGAGCTGGCCATGGTGTTCACGCCACAGGCCCCGGACCCACGATGCAAGTAGTAGTAACCCTGGGGGAGAGGGGGAGCTGGTGAGGGCACCAGGGTAGGATGGCGGCTGGAGGGCCAGGGGCCAAGCCAGCAAGACTCACCTTCTCACCCCAGTCAGTGCCCCAGCTGTTCTTGATGGCCCAAAAGGGAACGTCAGAGCCTGGGGTGCAGTGCAGAGCGCAAGGATCAGGGTCCTTAATTCTCCAGGCAGAGCCTTAATCACTTTGCACCCTTCAAATACTTGCACTGGGCCTACTGTGTGACAGGGACTAGGAAAAGAGCAGAAAGCGAGGGGCCCACCTACCAGCCTCAGGGAGAAGCCCTGGGGCAGGGAGGAAGCACGCACCCACCCGCCTATTGCAGGTTATTAGGCCATCAATATTTACCCTCCCACAGCTCAGCTTCCCTGCCATAGAGAGGACAGATGATGCCCAGCTGGTCATGGCCCAGGCAGTGGGTAAGGACAGGGTTCCTAGGCATTCCCCCTATTTCCCCTCTAGAGGACCTGAGATGCTGTGATCCCACCCCTGCCTGTGGCCTGGCTGGATGCAGGACAGGCAGCGGAACTCACGGTTGCCGTAGCCCACAAGCAACACCGCATGGTCAATGAGCCAAGGGCTGCAGAGGGGCCGGAGAGGGCGGGAGATCCCGTGGCGGTAAAACTGGAGGTGGAGAAGGAGTAGGGGATCGACTCCAAGAAGAGGTCGGGGAGGTCAACAAGAGATGGGGCAGGGGCAGTGGGGCTAGGGCCTCACCTGCATGCCAAAGGCATTGATGGCCACGGAGATTGGGCCTCTCTTGGCCAGCCAGGCTGCCAGCTCTGAGATGGGAAGGGGTGGCATCAGTAGGCACCCAGGCCCCGGCCCCACCTGACCTCACCTCACCCTGCCCCTCACTCACTCTGCTCGTTCTGGCTCAGCTCCACGGAGTCATTGATGTAGACCTTGGCCTTCTCTGCTGAGAAGTTGCAGGACTGCATGTGACCCTGGTAGCTGTAGTCATCCTCTGTCTCCAGCCCTCCTGGGGAACGGTGGGGGTGAGTAGAGAAGGGCAGGCTCCCATTTGCCATTCACAGCCAGAAATGAACTAAGCCCTCTACGCGAGGTTTCACATTCCTCGTCCACCCCAGGCCACAGGCCATCCCCTCTGAAGAATGTCTTCATTCTAGAAATGACACATCTGAGGCTGGGAGAGATGGGGAGGAGGGACCAGTAGCCAGCAAGAAAAGTGGCAGAGACAGAACTCAACTCCAACTTCTGACTCCTCACCAAGAGCTCATCCCAGCAGTCTTTCACCCAGGCTGGAGTACAGTGGCACAAACATGCCTCACTACAGCCTCAACCTCCTGGGCTCAAGCGATCCTCCTGCCTCAGCCCCCCAAGTAGCTGAGACTACAGATGCAAGCCACCATGCCTGGCTAATGTCTTTAATTTTTTGTAGAGATGGGGTCTTGCTATGTTGCCCAACCTGGTCCTGAACTTCTGGCCTTAAGTGATCTTCCCAAGTTGGCCTCCCAAAGTGTTGGAATTACAGGCATGAGCCACCACGCCTGGCTGGGTCAGCATTAAGACCTGGACCCAGTTCTGTGTAACTCTCATGCTCATGTCTCCCCCCCATTATGAAGTAACTTCTTGTACAGGGAGAAGTGGCTCCGGTTGCCCCTCCTGACCCCATTAATGCATACCCAAATTCTTTATGGCCGAGTAGGCATTGGAGGGCAAGCCGAGTAGGCATTGTCCATCTTGTCACAGTCCAAGAGCTCTAGGAGACAGAAGGCTGGTCCCAAGAAGCCCTCCTGAGGGGCTAGGCTGGGGACAGAGGAGTAGAGCGAGATGCTCACCCTGTTCAGAGAGGGAGAGCAGGGTCCCCTGGTTGAGAAACCACTGGCCCTCCACATTGCCTGTGACTGAGAAGGCCCAGCAGGAGCCACACATGCCCTACAAGAGATGGGTGGAGTTGGAGTCAGAGCCGGGCCCCTTCGTCAGCCCCAGTGCAGTGCCCATGTCCCACCCTCACTTCCAGGGGTCCAACCTGGTCTTTGACTTTTGTGACAGCCCCCTTACTCCTCCAGTCCCATTCAGGTGGGGCGAGGTCACCCACAGACTTGGCTTGCTTCATCTTGTTGCCAGGCTCTTTCCTCAGGAGAGTATTCAGGTAGATAGTGCGGAACTCCTCCTCTGCGGGCAAAGGTGGGCAGGGCATGGGGAGGAAGAGTGTTCTAAGCCAGACCTGACCAGAGGCCTTGCGAGCAAGGTCCTGTCTCTTCCTGGATCCATGAGGACTGTGGCCACTATCCCTACCTGTGAGATCACTGAACTTGGTGACTCCATACTGAGCTGTGCCACGGTCCAGGGCCTGGATCTTCTGTGCTCGCACCATGTTATTGACAAAGACGGACAGGCGCCACCGGGCTTCTGAGGACCAAGGAGCAGAAGAGGAGGGGTTCGACCCCAGGCAGATAAAAGGAAGGGCAATTGGGGCTAGCAGGCAGGGGTTTCCCCGGGGAGCAGGTAGGGGTGGGGGCCAGACATGCAAGTGATGGAGTGGGAGGTCTGATCAACTTTTAGGGCCAAACTGAAGTGATGACTTCCCAGGTGCAAAAGCAGTAAATGGGGTCTAAAGGACACCACCCACAAGAGGTGGTGGGGAAAGGCCATGTTGTCAAGGACTCTCCAGCACAAAAAATCCAGCCTCTGCCCCATCCCACCCTGCCAGAGTGATGGAGATGCAGAGCTTCTTTTTTTTTTTTTTGAGACAGAGTTTTCGCTTGTCACCCATGCTGGAGTGCAGTGGCACAATCTTTGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTTTCCTGCCTCAGCCTCCCGAGTAGCTGGTATACAGGTGTGCGCCACCACACCTGGCTAATTTTTGTACTTTTTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTAATCTGCCCACCTCGGCCTCCCAAAGTACTGCGATTACAGAGGTGAGCCACCACGCCCGGCCAAGACCCATGGCTTCTGAGCGGGAAGATAAGGTAGGAGAAGGGGCCAGGTACTCAGGGTGGCTGCCAGGCTGGGAAGGCTTAGGGAGAGCTCAGGAATTATGGGGTCCTTGAACAGGTACACTGCCTCTTGTCTTTCTCCTCCCACACACCAAGGTGCCAAGTTGGGGGGAAAGTCCTGTTCTGATAGGAACAGGTACAGCCAAGGCTGGGTCCTCACCTTCCTTTGACTCATATGTCCGGTTATAGGTAATGACAAAGTTCTTGAAGATTGAAGCCATCTTCACAGGCAAGTCCTGGATAGGCAGACCAGTCTTTAGGCTGACCAGAGAAACCCACTCCAGAGGGAAGGGAGAAGGGTGATGAGGCAGCGGCTGGCTCCTCAAGCTGAGGGCTCCTCAAGCTGAGGGCTCCTCACCTGGGACAGGGGATCCTCATTCAACAGGGAAATGACTGAGCTGAAAGTCTCGTTTCTGTTGTCTGGATGGTTTTGGGACAGAGAAGAAATCATGGCTGAGCCCTGAGTGAAGGCTGACTTGGGCTCCCCAGCACCTGGAACCTTGGTGTCCACTGGGCCACAGTCCTTCCGCAGCAGCACGTGTCTTCCGAGCTCATCCAGGACTTGGAAGCTGCAGAGCTGGAGGGAGAGGAAGAAGCTGCTCTGGGGGCCTGGATCTGGATCTGGGGAGCAAGATCTGGCCAAGATGGAGCTGGAGGCTCCTCAGATGAGAGCCNNNN | pathogenic | 178,964 |
Evaluate the clinical significance of the mutation at chromosome 11, position 66689137 in gene SPTBN2 (spectrin beta, non-erythrocytic 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_spinocerebellar_ataxia_14'] | TCCCGCGCTGGCTGCCTTGGCATCCTTGTAAAAGCCGAGGCTCCCACGCCGCAGGACACAGTACACGTTCTGCCAGGACCTGCGAGGGACGCGGTGCTGACTGGCCGGCCTCAGTGGCGCCCGCAACCTGGAGCCCTCTTGGGTGTCCTAGGACTTCCAGTTCTGCTCCCATCTTTAGGCCACGGTCTTCACACCCTCTGGTCCTCCCCTGAGGCCCCGCTCTGGTCCCAAGTCCTACCCTTTGCCCAGAAGATGTACTCTAAAGGGCATCCCTCCCTCTATCTGGGCAGAGGCTCTGGGGAAGTGCCCTCTGAGAGCAGGCTCCAGAGAGGCTGTACCTGTTGGCAGCCTTCTTCCCGAAGGCCTCCATCTCCTGCTTGCGGCACAGCATCCCCTCCATCTGCTCCTGGGCAGATGGCTCTGGGCCTCGAGGCGGCAGGGTGGCAGCATGGGCTGACTCGGTAGACCTGCTCTGGGGCATTGCAGATGGGGCCGGGCCCCGAGTCCGGGTCTGCCTCTCTCCCCGGGGCCCATTGGCTTCGTCCCCTGAGCCAGGTCCCTGGGGGGGAATCAGTGTCAGTGTCAAAGGTTGAGACGGGAGATCCCTAACCTGGGTGCCAGGAAGCTCCGTGTCCAGGAGTTGGTCTTCCTGCCCCCAAGCTGCCTGTGAGCCTCTGCCCTCTCCCATCCCATCCCCAGTACTCCCCCACCCGCACTCACCACCCCCTCTGGACCCTTCGCCTCACAGTTATCAACACCACACTTGCAGGGGAACTCACCGGCCCTTCGGGGAAGCTGCTGTGCTCAAGTCTCTGTTGTCCCAGCAGGGGCTGCAAGGACAAGAATCTGTAAAAGGATGTGCGGGGGTGGAGGGGCTACGACTCCGATGGGGGCACAGAGGGACAGTGGGGTCACCTGTGAGGGCTCTCCATCTGTGCAGACTCCATTAACACTGGGTGCTTGTGTGGATGGTGGTGGCCGTGGCTGGGTTCTGGGATGACCAAAGGCAACACAGAATCATTAGTCCCTGGGTGGCCTGGGCTCAGCCGCCTCCTCCTACCCAGGCATCCTGGCTCTCACCCGTCCCAGGTGGTGTCAGAAGCTGTCTGGCCGCCCACCAGGTCCCCTGGAGGCACACTGGCTGTGGGTTCGGGAGCAGGCGGCTGTTTCCGCCGCTCCTCCTCCTCCCTCTTTCTCTTTCGCTCCTTCTCCCGCTCCTCTAGCTGTCAAAAAATGCTGCATTCAGCGTGTAGAAGGTTGCGTGTAAGAGGGCCAGGGAAACAGGGAGAGCTGAAATGTCTCAACTCTAATTTGATGAAATATGATAAGAGGAGAACAGAATTTGAGAAGATGGTGGGGACAAGAAACAAAGCGGGAGAAGGTGTCTCGGCATCACCCAGGGGAACTGACACCTCCTAAAGGTGTGGTGACAATGGCACTCTCAGCTCACATCTGGGGGCCACTGGTGCAGTGGGAAGAGAGAAGACATGTCTTCTCCAAGCAGAAGCCAGCACAGGTCAGGGGAGCAGGTTGGAGTGGGCATCCGGGGTCCTGTGTCCCTCACCGCAGTAAGCTTCTCCAGCGCACAGAATCGCTCCTCCCAGGCCACTGCTGACTTCTGGAAGGCCTCGTGCCGCTTGATGAGGCTCTCAACTTCGTCGACCGTGCAACCCAGCTCAGCGCTGCGCACCAGTGGCTCCTGGCTGCAGAGCCAGGCCTCTGCCATCCCTGCATCTCTTCCAAACACAAGCACCTCCAAAACTGGCAGGATCGGGGGTTGCAGGAAGATGGTGGGTCAGAGTGGCCACTGGCAGGGCACAGTGGCCATGGCAACCTCAAGAACAGGGACACAGAGAAAGCCACTGCCCCAGAGCTGTGCCAGGCAGCACGAAGATTGGGCATCGTGAGTTTCACACCCAGGGTTCCTAGTCTCACCTACTCTGGAACCCACAGGGTGCAGGATGCCCCCCACTCCCCACAGGGCCTGGGGCCCCCTTGGCAGCTCACCCAGCTGAAGCCAGTCCATCTTCTCCTGCCACTTCTCAGCTGTCTCCTGGCGCCGTGCCTGCAGCTGAGACAGCTTCTCTGAGATCTGGGGGCGGGGGGCAGAGATATGAGTTAGCACCAGGATGTGAGATCTTTCCACGGCCCCTGGGGAGTCATCCAGGGGGACAGGTGATTTCTTTCTTTCTTTCTTTTTTTTGAGACGGAGTTTCGCTCTTATCACCAAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTGGAAACGGGGTTTCACCATGTTTCATCACAGCCCAGCCACACAACCCATGGAGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCAGGACCAGTGATTTCTGATGTCAAGAGGCAGACGGTTCTGGGGAGAGATTTCCAGAATGCGAGAAACCCGTGAATGGCACTGAGGGGAGAGAATGAAAGGTTTCTTGCAAAGAGAGAATGAGAGGAAGCAGAAAGCCACCAAGAAGTCAGCGTTCAGCACTGCACAGTGAGAATGGCCCGGCCACCCAGGCCTCACCCACCTCCTCGGCCGCATAGTGGCTCCTGGCCAGCAGCTCCTTCCCCATGTCGATGCAGGAGGAGAAGCGGTCTGCCCGGGCCTCTATCTCTGCCTTGATGCCTTGCTGGTTCTTGATGACTAGATCCGCGGAGGACACATCCCTGGGGGGAGGCAGAAACAGCATCACCTGCTGCCCACAGCCCCATCACAGCCCAGCCACACAACCCGTGGAGGCCCTGAGCCCTGGGATTCTCACCGGGGACGCTCCTGGGCATCCATCTGCAGGTTGACCTCATCCATCCAGAGCATCAGTTCCCGGACAGCCTTGAAGAAGCGGAACTTGTCTGTGGTGTCCAGCAGCAGCTGCCGGCGGGCGGCAGAGCTTCCCTGAAGCTGGGCCCAGGCCTCGGCCACGGCCTGCATGTGGCGGCCGATCTCCTCAGCCTTGTCTCCAGCGTAGGCCTTCTGGAGCCGGTGGCCGTCGTCCTGCACCTGCTGGACCTGCGGAGCCCCGGGTCAGAGTCAGGCAGAGCGGGGGACTCCAAGGAGCCGCAGCCTGCCTCAGTCCTGGCTGCCACTCTCACCTCCTGCCTGTCTCACAGCCAAAGAAGCAGGGGGAGGAGCCAGGGAGTGGGGGTGCTGGGAAAGATGAAGGCAGGGGCTGGCCACACTCTGCCCTGTTGGGTCTCATCTAGACACCTGGGCTTAACTGGGGGAGGATCTGGAAAAGAGCCATTGGCCAGTTGAACTTTCAGAGGCCTGTCTAGGATGTGATAGACCTTGGAGATTGCTAGAACGTGCTACTTAGCCTGAAAAGGGGATTCAGGCAGGGGCTGATGGGTTCTAGTGGTTGAAGGAAGGATCCATGCTTACTGAGTGTGAGCCTAGAGCTCAAGCCTGGGAAGCACTAACAGGCTGATTTAGCGCAGCATGAAGAGTCTCCTGGCCACTGGGAACCCCTGAAGACATCATGGGCTCTCAAGGGGGCTTGTCATCAAAAGTGTGAATGCAGTGGCTAGATGTCCCCTGCCAGAGATGTTTTCTTTCTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGAGGGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAATCTCAGATGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGCGCCTGGCCAAACAGAGATGTTTTCTTGGAGCAATTTCCTCATCTCGAAATGGCCCTCGAAAGAGTGCCGTCCTCCC | TCCCGCGCTGGCTGCCTTGGCATCCTTGTAAAAGCCGAGGCTCCCACGCCGCAGGACACAGTACACGTTCTGCCAGGACCTGCGAGGGACGCGGTGCTGACTGGCCGGCCTCAGTGGCGCCCGCAACCTGGAGCCCTCTTGGGTGTCCTAGGACTTCCAGTTCTGCTCCCATCTTTAGGCCACGGTCTTCACACCCTCTGGTCCTCCCCTGAGGCCCCGCTCTGGTCCCAAGTCCTACCCTTTGCCCAGAAGATGTACTCTAAAGGGCATCCCTCCCTCTATCTGGGCAGAGGCTCTGGGGAAGTGCCCTCTGAGAGCAGGCTCCAGAGAGGCTGTACCTGTTGGCAGCCTTCTTCCCGAAGGCCTCCATCTCCTGCTTGCGGCACAGCATCCCCTCCATCTGCTCCTGGGCAGATGGCTCTGGGCCTCGAGGCGGCAGGGTGGCAGCATGGGCTGACTCGGTAGACCTGCTCTGGGGCATTGCAGATGGGGCCGGGCCCCGAGTCCGGGTCTGCCTCTCTCCCCGGGGCCCATTGGCTTCGTCCCCTGAGCCAGGTCCCTGGGGGGGAATCAGTGTCAGTGTCAAAGGTTGAGACGGGAGATCCCTAACCTGGGTGCCAGGAAGCTCCGTGTCCAGGAGTTGGTCTTCCTGCCCCCAAGCTGCCTGTGAGCCTCTGCCCTCTCCCATCCCATCCCCAGTACTCCCCCACCCGCACTCACCACCCCCTCTGGACCCTTCGCCTCACAGTTATCAACACCACACTTGCAGGGGAACTCACCGGCCCTTCGGGGAAGCTGCTGTGCTCAAGTCTCTGTTGTCCCAGCAGGGGCTGCAAGGACAAGAATCTGTAAAAGGATGTGCGGGGGTGGAGGGGCTACGACTCCGATGGGGGCACAGAGGGACAGTGGGGTCACCTGTGAGGGCTCTCCATCTGTGCAGACTCCATTAACACTGGGTGCTTGTGTGGATGGTGGTGGCCGTGGCTGGGTTCTGGGATGACCAAAGGCAACACAGAATCATTAGTCCCTGGGTGGCCTGGGCTCAGCCGCCTCCTCCTACCCAGGCATCCTGGCTCTCACCCGTCCCAGGTGGTGTCAGAAGCTGTCTGGCCGCCCACCAGGTCCCCTGGAGGCACACTGGCTGTGGGTTCGGGAGCAGGCGGCTGTTTCCGCCGCTCCTCCTCCTCCCTCTTTCTCTTTCGCTCCTTCTCCCGCTCCTCTAGCTGTCAAAAAATGCTGCATTCAGCGTGTAGAAGGTTGCGTGTAAGAGGGCCAGGGAAACAGGGAGAGCTGAAATGTCTCAACTCTAATTTGATGAAATATGATAAGAGGAGAACAGAATTTGAGAAGATGGTGGGGACAAGAAACAAAGCGGGAGAAGGTGTCTCGGCATCACCCAGGGGAACTGACACCTCCTAAAGGTGTGGTGACAATGGCACTCTCAGCTCACATCTGGGGGCCACTGGTGCAGTGGGAAGAGAGAAGACATGTCTTCTCCAAGCAGAAGCCAGCACAGGTCAGGGGAGCAGGTTGGAGTGGGCATCCGGGGTCCTGTGTCCCTCACCGCAGTAAGCTTCTCCAGCGCACAGAATCGCTCCTCCCAGGCCACTGCTGACTTCTGGAAGGCCTCGTGCCGCTTGATGAGGCTCTCAACTTCGTCGACCGTGCAACCCAGCTCAGCGCTGCGCACCAGTGGCTCCTGGCTGCAGAGCCAGGCCTCTGCCATCCCTGCATCTCTTCCAAACACAAGCACCTCCAAAACTGGCAGGATCGGGGGTTGCAGGAAGATGGTGGGTCAGAGTGGCCACTGGCAGGGCACAGTGGCCATGGCAACCTCAAGAACAGGGACACAGAGAAAGCCACTGCCCCAGAGCTGTGCCAGGCAGCACGAAGATTGGGCATCGTGAGTTTCACACCCAGGGTTCCTAGTCTCACCTACTCTGGAACCCACAGGGTGCAGGATGCCCCCCACTCCCCACAGGGCCTGGGGCCCCCTTGGCAGCTCACCCAGCTGAAGCCAGTCCATCTTCTCCTGCCACTTCTCAGCTGTCCTGGCGCCGTGCCTGCAGCTGAGACAGCTTCTCTGAGATCTGGGGGCGGGGGGCAGAGATATGAGTTAGCACCAGGATGTGAGATCTTTCCACGGCCCCTGGGGAGTCATCCAGGGGGACAGGTGATTTCTTTCTTTCTTTCTTTTTTTTGAGACGGAGTTTCGCTCTTATCACCAAGGCTGGAATGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCGAGTAGCTGGGATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTGTGTTTTTAGTGGAAACGGGGTTTCACCATGTTTCATCACAGCCCAGCCACACAACCCATGGAGGCCAGGCTGGTCTCGAACTCGTGACCTCAGGTGATCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCCAGGACCAGTGATTTCTGATGTCAAGAGGCAGACGGTTCTGGGGAGAGATTTCCAGAATGCGAGAAACCCGTGAATGGCACTGAGGGGAGAGAATGAAAGGTTTCTTGCAAAGAGAGAATGAGAGGAAGCAGAAAGCCACCAAGAAGTCAGCGTTCAGCACTGCACAGTGAGAATGGCCCGGCCACCCAGGCCTCACCCACCTCCTCGGCCGCATAGTGGCTCCTGGCCAGCAGCTCCTTCCCCATGTCGATGCAGGAGGAGAAGCGGTCTGCCCGGGCCTCTATCTCTGCCTTGATGCCTTGCTGGTTCTTGATGACTAGATCCGCGGAGGACACATCCCTGGGGGGAGGCAGAAACAGCATCACCTGCTGCCCACAGCCCCATCACAGCCCAGCCACACAACCCGTGGAGGCCCTGAGCCCTGGGATTCTCACCGGGGACGCTCCTGGGCATCCATCTGCAGGTTGACCTCATCCATCCAGAGCATCAGTTCCCGGACAGCCTTGAAGAAGCGGAACTTGTCTGTGGTGTCCAGCAGCAGCTGCCGGCGGGCGGCAGAGCTTCCCTGAAGCTGGGCCCAGGCCTCGGCCACGGCCTGCATGTGGCGGCCGATCTCCTCAGCCTTGTCTCCAGCGTAGGCCTTCTGGAGCCGGTGGCCGTCGTCCTGCACCTGCTGGACCTGCGGAGCCCCGGGTCAGAGTCAGGCAGAGCGGGGGACTCCAAGGAGCCGCAGCCTGCCTCAGTCCTGGCTGCCACTCTCACCTCCTGCCTGTCTCACAGCCAAAGAAGCAGGGGGAGGAGCCAGGGAGTGGGGGTGCTGGGAAAGATGAAGGCAGGGGCTGGCCACACTCTGCCCTGTTGGGTCTCATCTAGACACCTGGGCTTAACTGGGGGAGGATCTGGAAAAGAGCCATTGGCCAGTTGAACTTTCAGAGGCCTGTCTAGGATGTGATAGACCTTGGAGATTGCTAGAACGTGCTACTTAGCCTGAAAAGGGGATTCAGGCAGGGGCTGATGGGTTCTAGTGGTTGAAGGAAGGATCCATGCTTACTGAGTGTGAGCCTAGAGCTCAAGCCTGGGAAGCACTAACAGGCTGATTTAGCGCAGCATGAAGAGTCTCCTGGCCACTGGGAACCCCTGAAGACATCATGGGCTCTCAAGGGGGCTTGTCATCAAAAGTGTGAATGCAGTGGCTAGATGTCCCCTGCCAGAGATGTTTTCTTTCTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGAGGGATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTGTATTTTTAGTAGAGAAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCAATCTCAGATGATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCACCGCGCCTGGCCAAACAGAGATGTTTTCTTGGAGCAATTTCCTCATCTCGAAATGGCCCTCGAAAGAGTGCCGTCCTCCCNN | pathogenic | 179,002 |
A genetic alteration at chromosome 11, position 66707534, in gene SPTBN2 (spectrin beta, non-erythrocytic 2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Spinocerebellar_ataxia_type_5'] | GAGGGTCAGAGCCTTAACCCAGCCCTCCGGCTGCTCCCTGCCACCACACTCTCTTGGACTTCCCTCCCTGGCTTTAGCTCAGTCACCATCGTTTGGCCACCATCTTTCCCGTCCCCAGGTTTCCCAACCCTTCCACCTCGGCTCTTGATGTGCTCCTTCCCAGCCCCTCCCTCTCCAGTGCCTTCGCTGACTTCTCACCTTTCCCTGGGTTGCAGAAGCGCAGGGCAGAGGCGCTGACGGCCCGCACCCTCTCGGCCTGCACGGCGATGTCTGCCTCCACCAGCTCGTGCAGCTGCAGCAGGTCCTCCACTCCTGCTAGGTGCCTGCCCAGGTCCTGAGACTGCAGCCGGCCCTGCCAGGCACACATGAAGTGCACATGCCCGCCTGAGCACAGACGCGCTAACCTGGCTGCGTTTTTCTTCCAACTTCTCCACGGCCCCAGGTGTTGCACCCAGGTGAGAAACCTGCTTGCTCACACATACTTGAGATACCCCAGTTCTGCCCTGGCACCCCGACCTCCTTATCCTGAACTCCCCTGCTGTGGAACAATGTTCTAACTAACTCCTGCTCTTGGAAGCTTTGCTGTGACTAATCTTCTCAGCCTCAGAATCATCGACACCCTCCTGCCGCCACCGCTCCGCCCCAGCACCCAGCAGCCTTCCTTCCACATCTCTCCCCAATCCACCCTCCTAGCCGCTGCCCGCCTGGAAGATGGCAGCAACCTCTAACGGTCTCGCTGTCATGCTGCCTGCCCACAGGCCTTCTTCAGAGTAGCCAAAGTGACTTTTTTACAAACATAAGGTACAATCAAATCTCTCCCCCTCTCAAAACCTTCTAATCACTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCCTGTAGTGCAGGCTGGAGTGCAGTAGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGGTCCAAGCAATTCTCCTTCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGTGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTCTTAGGATTATAGGCGTGAGCCACCTTGCCTAGCTGCTTTTTTTTTTTTTTTTTGACTGAGTCTTGCTCTATCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTGCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCGCTACCACCGCACCTGGTTAATTTCTGTATTTTTATAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGAGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCTTCAAATCACTTTAAAGGATCCATGTTACTTTGAATAAAATCCAAACTCCCTGACCAGGCCTGTAAGGCCCTAGTGGGCTGGCCGTGCCCTCCCAAATCTCAGTCCATGGCCCCCACTCCTCATGCTCACAGCCCACCGGCCTTCCTTCTGATCCTGAACACACCATGCTGATCCAGGCCGAGGGCCTGTGCCGGCTGTTCCTTCTGCCCGGAACATTCTCTCCTGAGAGCTCTCTGTGCTGGCTCCTGGCACTATTCTGGTCTCGGCTTAAATGGTATTTTCTCAGAGGCCTTGTCTGACCAGCCCCTCACACCACCCTGTTCCAGTTTCATCAGTGGTTTTATGGCCCCTGCTCTTTTGTTTACGGAAAGGTCCGTGGGTTTTGTCATCAGCCTCCTCCATGTGGACACGAACCCCATGTGGACAGGGCCCTGTTTACTTTGTTCCCTGCAACTGGGGACAGGGCCCTGTGCTGGTTCACACTCCACAGAGATCGGCCGAGCAGACGGGCGGACGCACCCACTGTGGGGCCCCCTCGACTCTTGATCACTCTTACCCCACCCAGCACGCCTCACTGGTACCTTCATCTCTTCCATCCAGTCCATGAGGTAGAGCAGGTCCTGGAACACCTTCTGCAGCTCCAGGTTGAGGAGGAGCCGCTCCCGCCGGGCGGCCACCATCTGCCGCAAGAAGTCCCAGAGCCGTGCCACGTTGTGCTGCCGAGCGGCGATGCGCTTGATGTCGTGGTAGCGCTCGGCGGCCAGCTCTGCAGCCACGGCGTCCACTGCCTGCACCCGGCCGCTGTAGGCCACGATGTCCGTCTCAATGGCTTCGTGCTTCCGTACTGCTGCCTCGACAGCTGCCAGCTCCAGCCCAAAGTTGTCCTGTGTCGGGGGCAGGGAGAGGAGGTGTGGGGACCAAGGGACAGTGCCTCTGCCTGCTCCTCTGTCCTGCAGGGCACTTGGCCTGCAAGATCCCAGCTCCATGCGGTGGCTCTAAGTTCCCTCTCTATCCCACCCCCATCCTGTCTCACCAACCCTCTCTCCTGTCCCACCCTCTGGCCCCTGGCTCCCGGACCTCTAGGCCTTTTTACCCAGGTGACGGATTTTGTGTTTCATTGTCTCTCCACCCCGCGGGGCTTCTTATCCACCCTGTCTCTCTCCCAGTTCTGACCAGCCTAAGCATCCTAGGAGCCTCAAGTCCTACCTGGGACACGAGGCGCTGGTTCTCGCTGAGCCAGGTCTCCCGCATGGCAGCCTTGCGGTCGAAGCGGGCGGCCAGCTGCTCCAGCTTCTCCTGGCGGATGAGCTCGGTGCGCAGGGCCAGCTCACGCTCGTGCTCCGCCTTCTCCAGCCGCTCCCAAGCCTATGGGGTGGGGACAGGGTTAGTGGAAGGGACAGGGTGGGGAGGGCTCAGTGGGGCTGGAGGCACATGGTAAGTCCCATGGAAGCTCGGTCTGGTGGATCCGTGGAATGCAGTGGGTGAGACGCCTGGGCGTGGAAACAGGAAACAGGGCAGCGCTGGGAGTCTGTGAAGCCATGTAGAAGCTTCTGGAAAAGGACTGGAGGGAGCACGAACAGTGGAAACCATCTGATTCCTTTGTGTTGGCAGGACTGTGTGCGAACCTTATTTTTACTTTTAGTAATCTTACAATATTGTGAAAAAAATAAAAGAAGGGATAGTGAGTTGGGGACAGGTTTAACAAGCTGAGGAACTTGGGGCATAATTTCCTTATGTGACCTCGTATGGAGAGTCAGACAAAGGGACAGGGAGCCGTGTGCCTGAGAGGATGGGAGAATCACATCTGGCACAGTGTGGGCAGCTGGGCAGAGTGCTCGAGTTTCAAGTTGGGGCAGCAGATAGTAGAACTTGGTGAAGGTCGACATGGCCCCGGGTTTGGGGATGTGTGCAAGGCATCTGGGCCAGGGCCTGCCCTGAGGGTGGGTGGCCTGTGGGCAGCCACGGACCTTGTTGATGTCCGAGATGAGCCGGCCCTCGCGGGGCGTGTAGACCTTCTGGTTGTTGGCCCGAAGCTTGCTCTGGATGGTGAAGAGCAGCACTTCCAAGTTCCCTTTCTCGGTAAACCTGAGGCAGGAGGCCGGGTTGGGGTCAGAATTAAAGCCCACGAGGGTCACAAGGACTCTTTACTCTTCCAAATGGGTGTCCTGTGTTGCTTTTCTTCTTACAAAAGCAATATAAACTTTTTATGTGGAAGCCAGAAAATATGGGCTAACCAAAAGAACATCATTTTATTTTATTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTGGGTTCGCTGCAACCTCTGCCTCCCGGGTTCAAGCCAATCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCCAGCCAAAATAATTCTTTTATAACCTATTTCCCCCACTTATTTTTCATGAACACCTTTCCATGTCAATAAATGCATTTCTTTAATATTATTTTCAGTGGCTGCCCATGA | GAGGGTCAGAGCCTTAACCCAGCCCTCCGGCTGCTCCCTGCCACCACACTCTCTTGGACTTCCCTCCCTGGCTTTAGCTCAGTCACCATCGTTTGGCCACCATCTTTCCCGTCCCCAGGTTTCCCAACCCTTCCACCTCGGCTCTTGATGTGCTCCTTCCCAGCCCCTCCCTCTCCAGTGCCTTCGCTGACTTCTCACCTTTCCCTGGGTTGCAGAAGCGCAGGGCAGAGGCGCTGACGGCCCGCACCCTCTCGGCCTGCACGGCGATGTCTGCCTCCACCAGCTCGTGCAGCTGCAGCAGGTCCTCCACTCCTGCTAGGTGCCTGCCCAGGTCCTGAGACTGCAGCCGGCCCTGCCAGGCACACATGAAGTGCACATGCCCGCCTGAGCACAGACGCGCTAACCTGGCTGCGTTTTTCTTCCAACTTCTCCACGGCCCCAGGTGTTGCACCCAGGTGAGAAACCTGCTTGCTCACACATACTTGAGATACCCCAGTTCTGCCCTGGCACCCCGACCTCCTTATCCTGAACTCCCCTGCTGTGGAACAATGTTCTAACTAACTCCTGCTCTTGGAAGCTTTGCTGTGACTAATCTTCTCAGCCTCAGAATCATCGACACCCTCCTGCCGCCACCGCTCCGCCCCAGCACCCAGCAGCCTTCCTTCCACATCTCTCCCCAATCCACCCTCCTAGCCGCTGCCCGCCTGGAAGATGGCAGCAACCTCTAACGGTCTCGCTGTCATGCTGCCTGCCCACAGGCCTTCTTCAGAGTAGCCAAAGTGACTTTTTTACAAACATAAGGTACAATCAAATCTCTCCCCCTCTCAAAACCTTCTAATCACTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCCTGTAGTGCAGGCTGGAGTGCAGTAGCACAATCTCAGTTCACTGCAACCTCCACCTCCCAGGTCCAAGCAATTCTCCTTCCTCAGCCTCCTGACTAGCTGGGATTACAGGCGTGTGCCACCACACTCAGCTAATTTTTGTATTTTTAGCAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGGACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTCTTAGGATTATAGGCGTGAGCCACCTTGCCTAGCTGCTTTTTTTTTTTTTTTTTGACTGAGTCTTGCTCTATCACCTAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTGCTGTCTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGCGCTACCACCGCACCTGGTTAATTTCTGTATTTTTATAGACACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGAGCTGGGATTACAGGCATGAGCCACTGCGCCTGGCCCCTTCAAATCACTTTAAAGGATCCATGTTACTTTGAATAAAATCCAAACTCCCTGACCAGGCCTGTAAGGCCCTAGTGGGCTGGCCGTGCCCTCCCAAATCTCAGTCCATGGCCCCCACTCCTCATGCTCACAGCCCACCGGCCTTCCTTCTGATCCTGAACACACCATGCTGATCCAGGCCGAGGGCCTGTGCCGGCTGTTCCTTCTGCCCGGAACATTCTCTCCTGAGAGCTCTCTGTGCTGGCTCCTGGCACTATTCTGGTCTCGGCTTAAATGGTATTTTCTCAGAGGCCTTGTCTGACCAGCCCCTCACACCACCCTGTTCCAGTTTCATCAGTGGTTTTATGGCCCCTGCTCTTTTGTTTACGGAAAGGTCCGTGGGTTTTGTCATCAGCCTCCTCCATGTGGACACGAACCCCATGTGGACAGGGCCCTGTTTACTTTGTTCCCTGCAACTGGGGACAGGGCCCTGTGCTGGTTCACACTCCACAGAGATCGGCCGAGCAGACGGGCGGACGCACCCACTGTGGGGCCCCCTCGACTCTTGATCACTCTTACCCCACCCAGCACGCCTCACTGGTACCTTCATCTCTTCCATCCAGTCCAGGTTGAGGAGGAGCCGCTCCCGCCGGGCGGCCACCATCTGCCGCAAGAAGTCCCAGAGCCGTGCCACGTTGTGCTGCCGAGCGGCGATGCGCTTGATGTCGTGGTAGCGCTCGGCGGCCAGCTCTGCAGCCACGGCGTCCACTGCCTGCACCCGGCCGCTGTAGGCCACGATGTCCGTCTCAATGGCTTCGTGCTTCCGTACTGCTGCCTCGACAGCTGCCAGCTCCAGCCCAAAGTTGTCCTGTGTCGGGGGCAGGGAGAGGAGGTGTGGGGACCAAGGGACAGTGCCTCTGCCTGCTCCTCTGTCCTGCAGGGCACTTGGCCTGCAAGATCCCAGCTCCATGCGGTGGCTCTAAGTTCCCTCTCTATCCCACCCCCATCCTGTCTCACCAACCCTCTCTCCTGTCCCACCCTCTGGCCCCTGGCTCCCGGACCTCTAGGCCTTTTTACCCAGGTGACGGATTTTGTGTTTCATTGTCTCTCCACCCCGCGGGGCTTCTTATCCACCCTGTCTCTCTCCCAGTTCTGACCAGCCTAAGCATCCTAGGAGCCTCAAGTCCTACCTGGGACACGAGGCGCTGGTTCTCGCTGAGCCAGGTCTCCCGCATGGCAGCCTTGCGGTCGAAGCGGGCGGCCAGCTGCTCCAGCTTCTCCTGGCGGATGAGCTCGGTGCGCAGGGCCAGCTCACGCTCGTGCTCCGCCTTCTCCAGCCGCTCCCAAGCCTATGGGGTGGGGACAGGGTTAGTGGAAGGGACAGGGTGGGGAGGGCTCAGTGGGGCTGGAGGCACATGGTAAGTCCCATGGAAGCTCGGTCTGGTGGATCCGTGGAATGCAGTGGGTGAGACGCCTGGGCGTGGAAACAGGAAACAGGGCAGCGCTGGGAGTCTGTGAAGCCATGTAGAAGCTTCTGGAAAAGGACTGGAGGGAGCACGAACAGTGGAAACCATCTGATTCCTTTGTGTTGGCAGGACTGTGTGCGAACCTTATTTTTACTTTTAGTAATCTTACAATATTGTGAAAAAAATAAAAGAAGGGATAGTGAGTTGGGGACAGGTTTAACAAGCTGAGGAACTTGGGGCATAATTTCCTTATGTGACCTCGTATGGAGAGTCAGACAAAGGGACAGGGAGCCGTGTGCCTGAGAGGATGGGAGAATCACATCTGGCACAGTGTGGGCAGCTGGGCAGAGTGCTCGAGTTTCAAGTTGGGGCAGCAGATAGTAGAACTTGGTGAAGGTCGACATGGCCCCGGGTTTGGGGATGTGTGCAAGGCATCTGGGCCAGGGCCTGCCCTGAGGGTGGGTGGCCTGTGGGCAGCCACGGACCTTGTTGATGTCCGAGATGAGCCGGCCCTCGCGGGGCGTGTAGACCTTCTGGTTGTTGGCCCGAAGCTTGCTCTGGATGGTGAAGAGCAGCACTTCCAAGTTCCCTTTCTCGGTAAACCTGAGGCAGGAGGCCGGGTTGGGGTCAGAATTAAAGCCCACGAGGGTCACAAGGACTCTTTACTCTTCCAAATGGGTGTCCTGTGTTGCTTTTCTTCTTACAAAAGCAATATAAACTTTTTATGTGGAAGCCAGAAAATATGGGCTAACCAAAAGAACATCATTTTATTTTATTTTGAGACAGAGTCTTGCTTTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTGGGTTCGCTGCAACCTCTGCCTCCCGGGTTCAAGCCAATCTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTATGTATTTTTAGTAGAGATGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCTCAGTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCCAGCCAAAATAATTCTTTTATAACCTATTTCCCCCACTTATTTTTCATGAACACCTTTCCATGTCAATAAATGCATTTCTTTAATATTATTTTCAGTGGCTGCCCATGANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 179,077 |
Clinical classification of chromosome 11, position 66849025, gene PC (pyruvate carboxylase): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CCATAAGTAGAGGCTTTTCTGGTTCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACCTGGGAGGCACAGATTCCAGTGAGCCAAAATCACACTACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCGGGGTGGGGGGCAGGGGGGGCGGGGGAGGGAAGAAAGCCCTTTAGGTCCCATTCCCCAATCAAGGAGGTTGTCCCAAGGTCCCTTCTCTGAGGCTGGCCACTGAGGGAAAAAGGATGTGCGGTCACTCCCCCACGATGCCTGCAGGCTGGCCATGACAACGACATCCACCCGGATGGAAGGGGCAGCATCGCAGTCATCTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCAC | CCATAAGTAGAGGCTTTTCTGGTTCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACCTGGGAGGCACAGATTCCAGTGAGCCAAAATCACACTACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCGGGGTGGGGGGCAGGGGGGGCGGGGGAGGGAAGAAAGCCCTTTAGGTCCCATTCCCCAATCAAGGAGGTTGTCCCAAGGTCCCTTCTCTGAGGCTGGCCACTGAGGGAAAAAGGATGTGCGGTCACTCCCCCACGATGCCTGCAGGCTGGCCATGACAACGACATCCACCCGGATGGAAGGGGCAGCATCGCAGTCATCTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACNN | pathogenic | 179,114 |
The mutation in gene PC (pyruvate carboxylase) at chromosome 11, position 66849048—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Pyruvate_carboxylase_deficiency'] | TCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACCTGGGAGGCACAGATTCCAGTGAGCCAAAATCACACTACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCGGGGTGGGGGGCAGGGGGGGCGGGGGAGGGAAGAAAGCCCTTTAGGTCCCATTCCCCAATCAAGGAGGTTGTCCCAAGGTCCCTTCTCTGAGGCTGGCCACTGAGGGAAAAAGGATGTGCGGTCACTCCCCCACGATGCCTGCAGGCTGGCCATGACAACGACATCCACCCGGATGGAAGGGGCAGCATCGCAGTCATCTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGT | TCTCTCCACCTCTGACCTCTGCCCCAGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACCTGGGAGGCACAGATTCCAGTGAGCCAAAATCACACTACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCGGGGTGGGGGGCAGGGGGGGCGGGGGAGGGAAGAAAGCCCTTTAGGTCCCATTCCCCAATCAAGGAGGTTGTCCCAAGGTCCCTTCTCTGAGGCTGGCCACTGAGGGAAAAAGGATGTGCGGTCACTCCCCCACGATGCCTGCAGGCTGGCCATGACAACGACATCCACCCGGATGGAAGGGGCAGCATCGCAGTCATCTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTN | pathogenic | 179,115 |
Does the variant on chromosome 11 at location 66849073 affecting gene PC (pyruvate carboxylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | AGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACCTGGGAGGCACAGATTCCAGTGAGCCAAAATCACACTACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCGGGGTGGGGGGCAGGGGGGGCGGGGGAGGGAAGAAAGCCCTTTAGGTCCCATTCCCCAATCAAGGAGGTTGTCCCAAGGTCCCTTCTCTGAGGCTGGCCACTGAGGGAAAAAGGATGTGCGGTCACTCCCCCACGATGCCTGCAGGCTGGCCATGACAACGACATCCACCCGGATGGAAGGGGCAGCATCGCAGTCATCTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCG | AGAGGAACCCAGAACACAGGCTGCAGCCCTGAGGGCAGCAGGGACTTTGCCAAGCAACACAGTGACTCCAGGGTCCTTCTCGGCACCTGCAAGTGTTCTGCCTGCTCTCCATCATTTTTGGAAGGGCTCTCGTTTCCCTGCCTGTGCTCTTTTAAAATTAGATTCCTGAAAGAGTATTAGCCCTGGATTACTTGAGGTCAGGAGTCCGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGGCGGGGCGTGGTGGCAGGAGGCTAAGGCAGGACAATCACTTGAACCTGGGAGGCACAGATTCCAGTGAGCCAAAATCACACTACTGTACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCGGGGTGGGGGGCAGGGGGGGCGGGGGAGGGAAGAAAGCCCTTTAGGTCCCATTCCCCAATCAAGGAGGTTGTCCCAAGGTCCCTTCTCTGAGGCTGGCCACTGAGGGAAAAAGGATGTGCGGTCACTCCCCCACGATGCCTGCAGGCTGGCCATGACAACGACATCCACCCGGATGGAAGGGGCAGCATCGCAGTCATCTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCAATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGG | pathogenic | 179,116 |
For chromosome 11, position 66849668, gene PC (pyruvate carboxylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACA | CTGCCTCCTGGGGTACATCTAGGACATGGCGGTCCAGAAAGGAAGAGGCTCAAGCCCACTGTGAGTTGCCCATCCCAGAGGTTGGACTGGCTCTGGGAGCACTGGGCAGAGGCCTGCTGGGTGCTTCCCATCCAGAGGCTGATTTCCTGCATCGGCCTCCCCACACCCACCCCTCCATCTCAGGAACTGCCCAGCCTCCTGCTCCCTTCACCATCCTCTCCCTACCTGTGGGCAGGTGGGCAGGAGGGCAGTGGTGCAGGCAGGGTTACTGTCCCCACTGCAGGAAAGGGAACTGAGCAGGAGTCTGGAGGGGTGGTCATGGGGAGTGGCAGGGTTAGAACCTGAGACCCTGGACCCGGTGCTCCCCCTCACCTCCCACCAACATTCTCACATCCAGAGCACACACAAGACTCCCGGATCACCATTCCCGAGGGTCTTACCCACTGCCCACAAGGTGGTACCTGCTTGCATTTACCTGCTAACTGAGGTGGGACGCTGGCCTTGGGTTTTAGAAAATAAAGCAGCGGGGTTGGGAGGCGAGTCTGCCAACGGCCTGGGTTTCATCTCTCTCTCTTACTACTTGTGAAGTCCTGGACAAATTATTTAATCTTCCTGTGACTTGATTTCTGTGTCCATAAGAGGATGAAGGTTAATTCCCTGTGTTAATAGGTGTTAAATACTTAGAACAGGCCCCACCCCTCAAGCAAGTTCAGTACTACTAGTCCTGTTTGGGGAGTATACACAGTAGGCACCCAATAGTGACTTAAAACAGGGCCACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAN | pathogenic | 179,126 |
The mutation impacting PC (pyruvate carboxylase) on chromosome 11 at position 66850443: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGG | CACGATGGTCATTCTCACTACCCTCTGAGGAGAACGACACAACTGACCTGCCCACCCATGGGGAGCTTGAAAGGCAGCCCCCCACTGCTGAGTGGTGCAGGCTGGGGGCTGCACAGGATCCAGCATGGAGGGCAGGGGAAAGCCAGCTTTATTGAGTAAACTTCCCAGGACCTGGGACATCTTAGATCTCCCCTTCCCCCAGGAGATAGGACCCCTAAACCTCCCCTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGNN | pathogenic | 179,138 |
Clinically, how would you classify the variant at chromosome 11, position 66850668, gene PC (pyruvate carboxylase): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pyruvate_carboxylase_deficiency'] | CTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCC | CTGGGTCCTAGGACCACCTGACCCACCACTTGTAGTCTCCAGTGAGGAGGGGACCCTTATTTGGCAAGAGATGAACATGTAAGCAGCTGTCCGCCGGAGGAAAGGACGATGGCTGAAAGGAATGAACCACCGCAGGCGGTGTCTCTCCTGTCCAGCTGTGGACAGGACCTCCACGGCCCGGCCTTCCTGGCCTCGGGCACTGGCTGGCCTGGGCCTGCCGTGGCAGCACAGCTTCTGTTGAAGGCTTGGGGATGGCCAGGCTGCCGGTCTGGGGCAAGATCACTCGATCTCCAGGATGAGGTCGTCACCTTCCAGTGTCATGTCCTTGGTCACATGAACCTTGCGGACAGTACCCTCCATGGGTGAGGTCACCACAGTCTCCATCTTCATGGCACTGAGCACACACAGGGGCTGGCCCTTGGCCACCTTGGCCCCTGCCACCACTTTGATGTCTATCACCTTCCCAGGCATGGGCGCCCCGATCTGGCCCTTCACGTCCTTTAGGGCCTTGGGGTGGAAGTGCATCTCCTGAAGACACAGGGCAGAGGGGACATGACATCCTGGGCCCAGCCAAGCCCCACCGCCTGGCTGGCCCTGGGGGAGACAATACCTTCATGGCCTGGGTGTCCTTGACCAAGATGGACCGCAGCTGCCCATTGAGCTCAAAGAAGACCTGCCTCTGGCCGGCCCGGTTCAGGTCGCTCACGGCCAGGGCTTTGATGTGCAGCGTCTTGCCCCGCTCCAGCTCCACCTGCAGGGAGGGTGTGCAGACTCAGAGCTGGACGCCAAGGTGGGAGAGCAGTCCCCCGGCCCTGGCCATAGGAAGTCCCCACACTGGGCCTTGGCTCCTCGTTCCTAAAGGCCTAGCTCCCGGTCTCAAGGGTCCTTTCTGCTCCCAAAGCTTGCGAGGCTGGGTGACAGCCAAGCTAAACTCCAGAGCTCTGGGGCAGGGGGCCAGGGTGGAGTGTGGAGAAGCGCCAGAGCCACTGACCTCAAACTCCTCTGCGATCTTGGGTCCCTGCAGGAAGAGGCGAGTATTCAGGCTATCCAGGGGGCCAAAGGTGGCAGTGAAGTCCTTGAAGTGGGCAAACACATCGGGGTACATAGCTGCTGAGAGCACATCTTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCNNNN | pathogenic | 179,140 |
Gene PC (pyruvate carboxylase) variant at chromosome position 66851791 on chromosome 11: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | TTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCC | TTCCGGCGTCACCTCCTCCCCATGCCGGTCTACCAGCTCCTTCTCCAGTGCCTGCAGATCCAGGGGAGGGAGGGAGGCTCCAGGCCGCCCCTCCACCCTTGGCAGGTCCTTCAGTACCTGGGGAGCAAAGCAGAGGATCAGTCCCAAGTCCTGCATCCAGCCCCCACCCTCACACCATGCTGGGCCTTCCCTACCTTAGAGCGAAAGGGTTCGGGGAACCCCCCATGGGGGACACCGATGTAGCCCTGCAGGAACTCCACCACGGAGCGGGGAAAGGACAGCTCTTCCGCCTGAGCTTCGGCCTCTGCCCGGCTCAATCCATTCTGCACCATAAACTGGGCCAGGTCCCCCACGATCTTGGAGGAGGGCGTCACCTGAGGAGAAGGCCCTGGAGGTTAGGGTGCCAGGCACCTCAAGGAGGCCAGTGGCAGGTGCATGCAGGGCTGGGTCAGGTAAGGAGCACCGGGCCGGGCTCACCTTGATGAGATCGCCCAGCATCTGGTTGGCCTCCACATAGGCCTTCTTGACCTCCTTGAACTTGGAGCCAAGCCCCATGCTGTGGGCCTGGAAGTGCAGGTTGGTGTACTGGCCCCCTGGGATCTCATTTTCATACACGTCCGAGTTGCCAGACTTCATGGTGGCCGTGCAGTCGAAGGCCGCGTACAGTCCCCGAGCCCCCTCCCAGTACTCACTGTAGTCAAACACGCGCTCCATGGGCACCTCTGCAGGGAGGCCAGAGTCAGAGGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCN | pathogenic | 179,153 |
Benign or pathogenic: chromosome 11, position 66852535, gene PC (pyruvate carboxylase) variant? Disease(s) if pathogenic? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | GGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGACTGGTGGGCGTCCCTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGACAGGCTCTGCCTCCAGGGCAAGACCCAGAGGTGCAACTGCCTCCCGGGCCTTTCCTTGTTCACCCCTCGCATAAGTTCAGCAAGTCCACGGCCAGCTTCCTGCCTATGCACCCAGTCCTCCTGTGCCCAGTGGGTGCCCCACTGTCCCCCCAGTTACCAAAACCTGCATCCCATCACCCTCATCACCCACTCCTCCCATGCCACTGGTCAAGCCAGAGGATTCGACCACGGCCATTTTGGGACCTTGTGACCTCTTCTCCATCTCCAGGCCACACCCTCCACCGCCTTCCTCATTGTGGCCACCTCCAGCCACATCAAACTTGCCTTGCGCTCCACACCTTTGCACCTGCCTGGGAAGCTCTCCCTGAACTTCTCAAGGGCCTTCGCCCTGTCCTCACACCCTCGGCAGAGCTGACACTCACCTTTCCAGCAGTCCCCTGAGGAACCCGCTGTGGGCAAGCACACCCATCGGCTTCATCCTCTGCTTGTCTGCCTGGGAACCCTTGGGGGCAGGGTGCTGCCTGAGGCATGTGTCAGTGCACTTTGTGCACAGGGGCCCTCGGTTCCACTCATTAAATGCCTGGGTGACAACATGAGGCTGGGCCAGGGTGAGTATGACTTAAACGGGGACATGCGAGCCAGCACTGTGACAGGTG | GGAGGCCTTAGAAATGTGTGACTCTTCCAGGACCCAGGGCTAGCTCAGGTCCCATGTCTGACTCAGGTGACAGAAGGCGGCAAGGCCAGAGCAGGGCATCTGGATCCTAGGCAGGTCCAACACTACTGGGACTGGTGGTGGCTGCGGCTTTGAGAGGGGTGTGGCCACGGGCTGCTGTTCTTCCTACCTGTGTCCAGGGGAGTCCCTCTGGTACAGGCCACCAGGGCCCCCATGCTGGGCTGTGAAGTCATCCCAGACATGGAATCAGCTGCCACATCCACCACATCAGCTCCAGCCTGGGCACAGGCCAGCATGGCTGCCACGCCTGCCCCTGACGTGTCGTGGGTGTGGATGTGCAGTGGGAGGTCGGGGAAGCGGTCCCGGAGGGAGCTGACCAGCATGGTGCAGGCCGTGGGCTTCAGCAGCCCGGCCATGTCCTGGGGGAAGTGGGAGAGAGAGAGAGAGAGATGGTAGAGAGGGCAGGATGTGTGCCTGTGGGTGGCGGGGACATGGCCGGGGCAGAGAGGGAGGGACGGACAAGTGGCCCAGGCACCTTGATGCACAGGATGTGGGTGCCAGCTCGCACCAGCTCTTCGGCCAAGCCCATGTAGTACTGCAGTGAGTACTTGGTGCGGCTGGGGTCGGCCACGTCGCCCGTGTATGAGATGGCAGCCTCCACCACGCCTCCGGCACTTCCTGCCGCCTCCATGCCCAGCAGCATGTTGGGCAAGTAGTTGAGGGAGTCAAACACACGGAAGACATCCATGCCATTCTCTTTGGCCACTTCACAGAACCTGCAAGGGTGAGAGAGCCCAGGGCTGAGCCCCACCCCACCTCCCTCTGAACAGTCTTCCCTGGCTCCTTCCTGACCCACTCTATGGCCCCTGGGGAATGAGATCTGAGGGTCTCGCCTGGCAGGGGGTGTGGCATCCACAGGCGGGGGGTGGCCACACAAGTGTGGACCAGGCCCTGGAGGATCAGCTAGGCCAGTGGCAGGCTGTGGAAGAGGGTACTGAGCAAGGAGTCTTGAGGCCTGGGTTCCAATCCCAGCCCTGCACCGAGTGACCCAGGCAAGTCTCAGACCTTCCACTGCCCCAGGAGTGAGGGAGTGATTTAGAAGCCTGTCTGGTTCTGCAACTCCAATTTTACACTTCTCGATATTTCCAAACAGCAGCCCCTGCTGCGTGTGGCCACAGAGAGACTTGGTGTCAGGCTGACCGTGGAGAACAGAGGCCATCACGACATGGCTCGGTACCCTCTGGGCCACACCAGGTAGCGTCTGCCCACCCCACCCCAGGCTCACTTGAAGACCACGTTGTCTGGGTAGTTGGTGTAGCCCACAGCATTGGCCCCCCGCAGCAGCATCTGGAAAGGGATGTTGGGGATGAGCTCCCGGAGCTCCTGCAGCCGCCGCCAGGGGCACTCATACAGGAAGCGCATGGCGACGTCAAACGTGGCTCCTGCACAGGAACCGAGAGGCCCAGATCAGCTCTGCATGCCTGGGGAACTCCACCAGGCCTTGGAGCTAGCTCTGCAGCACAAGCCTCTGGCCCCAATACCAGGTCCTGCTCATCTTCGCCATACCTGTGTTCCCTGCTCCAACCCCCACAGATTTTTCCCTTGTCTGATCTCTAAGGGGGAGACCAGGCTCATTTGTGTCCCTTCTATGCCCCCTTTATAATCCCATCTTCTCCTCTACCTCTCTGTGCTATAATTAACAGGCAGGTGTCTCCTCCTGACCCTGGACCTCCCAGGATGCACCTGGTCTCAGCTCTGCAACCTCGTGCCGGCACCAGGCCTGGCCGGAGAGGGCGCTGTGCCTTCTTCGGTCCTTCCTCTTTGGTGTTCTTCGTGTCAGCGTCTCTAGCTTGTCCCCAGTGGCCTAAGCCTGTGGGACTGGCCACAGAGCGGGCGCCCATTCCTACCAGGCGCTGCGCAGCATGCCAGCCTACCTCCCCAGTTCTCCATGCTGAAGAGCTTGCTGAAGTTGTGGGCAACATAGGGGGCGATCTTTTTGAGATCGTGGGTGCGCACACGAGTGGCCAGCAGTGAAGGTCGTGTCCATCAGCAGCAGCCCCGGGTGGTTCCGCACAGCTCGAGCAAAGCCCTCAGGCCCCTCTCGCAGCAGGATGTCTCTGAAACCAGCCGGGGGCGGGCCTAGGGTAGACAGGGGCATTGGTGCCCATCCTGCAGGTGGCAACCTCCTGTCTCCCCCATGAGTTGACAGAATGGATCTCACCTACCTATGGGCACTGCAGGGACAACGGGGTCCGTGGGGCTGGGGCTGGCCTTGACGGGAATCGGGGTGGTTGGACCGTTTACCATGACATGGCCTGGGGAGAAAGCGGGCAGTGGGTCAGGGTGGGCTGGGCAGAGGCTGAGTCGAGGGCAGCAGTGAGAGTGGCTGGGCTCAGGGACAGGGACACATCCCTCCAGGATCCCCGGGCTTCCAGCTGGCCCCTGTCCTCTCCAAAGCCAGGGCCTCCTGGGTACAGGCAGTGGGGACGTCTTGAGGACCACGTGGATGGAAAGGTGGGGTCTCTCAGATCAGAAGCAAGGAGAGCAGTGAATGGCAGGGTGCAGGACAAGAGGACGCAGGGCCAGAATGAGGGCAGGGGTGAGGGGCAGGGGGCACTAAGGAGTTCTTTGGTCATGGGGAGTGGCAAGGAGGTAGGAGCAAGAGATTGGAGAGCGGAGGGGAGGGGAGGGCAGGGCAGGGCAGTCTCGGGCCAGACCGAGGTAGTGCAACAGCTTTTGGGCCCGGTTCTGTGCAGGCCGCAGCTGGAACAGCTCTGGGTTCTCGTCGATGAACTGGGTGTCCACAGTGCCTGCCAGGAACTGCTGGTTGTTGAGCACATTCTGCAGGAAGGCGATGTTGGTCTGCAGGACAGAGGCGGGTGGGAGGGGGTCACCATGCAGCACAGACAGGGAAGGCAGAGGAGAAAAGGCTGAAAGAGAAAAGGCTGAAGATGCTGCCCTGGGCCAGCACAGCTTCTGGGCCTCCCTGCAGAGGGGCACTTCCCCGTCCCTCAGCCCTCTCCTCACTCCAGCAGAGCCCCCTAAGCTGTCACGGGCTGGGCCTGCTCCCTCCATACTTGTTTACACCAAAGCATGTGCTGAAGGCCACCCTTCCTGCCTCCCCGCAGCCTAGAACAGGGCTCAGCCTTTTTCTCCAGCAGCGTGGCCCACAGCAGTCACCCTTGCCCCTCGTCCACGCTTCTCGAAAGAGGGCCTTGACCGCAACAGACCACACTCTGGCACTCTAAGTCACTCCTCCCAGCTGAGTCCAGCGGGCATGCTCCCGCCTTGCTGCTCGTTCCCTGGGCTTCCAAGCCATCTTGCTCTCCTGTCCTCTTCCTCCCCAGCTCCTCACACACCACATGCTCCCCAGGAGGCCCCGTCCCGGGGCTGTGGCGCCAGTGACAGGCTCTGCCTCCAGGGCAAGACCCAGAGGTGCAACTGCCTCCCGGGCCTTTCCTTGTTCACCCCTCGCATAAGTTCAGCAAGTCCACGGCCAGCTTCCTGCCTATGCACCCAGTCCTCCTGTGCCCAGTGGGTGCCCCACTGTCCCCCCAGTTACCAAAACCTGCATCCCATCACCCTCATCACCCACTCCTCCCATGCCACTGGTCAAGCCAGAGGATTCGACCACGGCCATTTTGGGACCTTGTGACCTCTTCTCCATCTCCAGGCCACACCCTCCACCGCCTTCCTCATTGTGGCCACCTCCAGCCACATCAAACTTGCCTTGCGCTCCACACCTTTGCACCTGCCTGGGAAGCTCTCCCTGAACTTCTCAAGGGCCTTCGCCCTGTCCTCACACCCTCGGCAGAGCTGACACTCACCTTTCCAGCAGTCCCCTGAGGAACCCGCTGTGGGCAAGCACACCCATCGGCTTCATCCTCTGCTTGTCTGCCTGGGAACCCTTGGGGGCAGGGTGCTGCCTGAGGCATGTGTCAGTGCACTTTGTGCACAGGGGCCCTCGGTTCCACTCATTAAATGCCTGGGTGACAACATGAGGCTGGGCCAGGGTGAGTATGACTTAAACGGGGACATGCGAGCCAGCACTGTGACAGGTGNNNNNNNNNNNNNNNNN | pathogenic | 179,159 |
Is the genetic variant on chromosome 11, position 66868959, gene PC (pyruvate carboxylase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Pyruvate_carboxylase_deficiency'] | GGGTCAGGACCTGTCCTTCTGAGGCCTGTTTTCCTGCTGGACTTGTGCCCAAAACCCCCTAGAGATGCTTGGAGAGTGCAAGCTTCCCCACCTCTGCAGGGTTTTCCAAGCTCAGCCTTACTGCTCCTAAGGGCAGTCACAAGTCCAAGTGGAACAGCTGTTTAAAAAACAAAACAAACAAACAAAAAAACCAGGCTGGGCACAGCAGGTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGAATCCCACGAGGCCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTAGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCAAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTATGTCTTAAAAAAAACCACTCAAGGTTTTACATGTATTGCCACTGAGGCTTGTGGTGAAGGCAGCCTGGAACCTACACTGGCAGGATTTCCCCGTGTTCTTGCTGCCTGCTGGCCCACTTCGCAGCAGAGATGACAGCTTCCACTCAGTGCCACAGGCCAGGCTGCACTCCTCCCATGCTTCATCTCCACGACGGTGTGCTGAGAGCCCTGTCATTCCCACCAGAGGAGGAGCTCGAGGGTCAGAGAGGTTGGAGCTCACCCAGGCTCCACGTGGCTTGGGACCTGAGAGCACCTGAGCCCCAATCTGTCTGACACAAAACCCGTGCTCCACAGCAGACAGACTCCCATCCCTAACAGGACGCTCTAAGCAGACCCAAGACCGAGGAGTTCACAGCAGCTTGAGGGGAAGAGTCTCACTCGGCCAAAGTGTTGGCCTTGTCTCTAAGCTTCTCCTAAGGGGAGGGAGGGGCCTCCATGCCCCCGGCGAGCCACAGCAGCCACCCCGACAGCATCCTCAGTCTCAGGTGGGGTTGGGGCTGGGGGCAGAACTGGGGTCAGGGATGCTCCACAGTGAGATGGGCTGGCCCAAAGCAGCGTCAAGAAATTACATGGCTCATAGTAGAGACCTTGAAGGGTGAGGGCCATCATGACTGTCATTTAGAAACCAGGCGGATTTTGAAAATGTCATCCTCAGTGCCTGCAGGGAGCACGCTAGTGCCACCTCTCTAGAGGGCTGTTCCGAGGGATGCTACTTATCCTTCAATCAGATAATCCTGTTGAAGGGTTTACCCTCAGAACTCTTCAGAGCTGAAGCCAAACATTCAGGCACACAGATGATAAGTGACACGCTTAATAACCACCAAAGCCAGACACACAAACTAATTGCCTAACAATCGAGGACTATGTAAGTTAAGAAATACACACAAGACGGAATAGTACGCAGCCACTAAAAGTATTCAGACAGAATTATGGCCTGGGGAAATGCCTTCAACAAATATTAAATAATTTGAAAAGTAGAATAAAAATTCTATATAAAACATCTCTATTGCATCAAACTATGTCTCTAGTAAAACAGGTAAACCGGGAAAGGAGCAAACCAAAGACAGCCGGAGATGCCTGGGTTCCAGCGCCAGCTGTGTGACCCCGAGCAACTCTCCAAATGTCTCTGAGCCTTGCTTTACTCCTCTGACAGATGGGAGCACCTGGGCCTGAGCAATCGGCAGCGTCCTGACAGAGAGGAGGGCTGTCAGTCATTTTTATTTGCTCCTTTGTGCTGATTTTTATAATAACCACGTAATGCTTTTAGAATAATGACTTTTAAAACACTAAGTACCTGGATCCCCATTGCTCTCCACCAATGTGGGGAGTGAGCAAGCCCCCTGGCTGGCCCCAGGAGCCACTTCGCCTGTACTTTATGCAAATCCTAGAAGCCGCGCCTCCCGCCCCGCCTGCCCGCCCACACTCACTCGGTGATCTCCTCTGTGACCGTGTGCTCCACCTGCAGGCGGGAGTTGACCTCGATGAAGTAGTGCTTGCCGTGCCTGTCCACCAGGAACTCCACGGTGCCTGCGTTCTCGTAGCCCACCTGTGGGGGCGGCCACGTGAGCAGGGGAGGGCACAGGCAGGGCCTGGGCAAACTCACTGGACTCAGGACAGGGATTCCGTCCCACCCATTGGGTTGGTTCCGTAAAAGAATGGCCTGTGGCAAACCCTGCCCCCACAGATGGCAGACAGACCCCAGGGCCCAGGTCATGCTCCTGCCTGGACACGTCCCCCAAGTAGTCCACTAGGCTCCAGGGTTCCCGGAGCCACAGATGGCTGCACCCAGCTTATCTGGGACGAGACATGGGCAGAAGCCCCCACCCATCCCAGGCTCGGCACCTTGCCCTGCTGCCTCCTGGGCTTGCCCGCCAAGGCTGTGTCATCCACCCAGACACGGAGACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGAGTGCACACCCCGGCCTTCGGCATGGGGAGGTGACGCATCCTCTGCTGCCTATAGGCCAGGGAAGAAGAGGGGGCAGGACCCCGCTGCACACCTGGCCACAGCAGGTGCTCTCCAGGCCAGTCCTGGGGCAGGTCACTGTGGGGAGATAGCTTGCCACCTCAGCCTCCTCCACAGCCCAGGACCCCCCGACCAGAGGTCCCAGAAAAGCAGAGATGGGCAGAGGGTGCAGAGCAAGGAAACAGATCATAATAAACATGATGTAGGAGACAGAAGCACATGAGGGAGGACTGCCTTCATAATGGTCCTCAATCTTGACAGAATCCACGGAATCTCATTCTCCTGATGACAGGGATGAGCTGATGCCACAGAGAAGCCAGGTCTGTGTAGCAGCAGGGCTGAGGAGGCGGCTGGGGCTCCTTCCCTCCCTCTTCTCAGCCATCCTGGACTCTAAGCTTGGCCTCTGGGCCAGGTGCCTCAACTGCACATGGGAAGGATGCCACAAACCCACTTCTGGCCCCCAGGAGAGTCCTTCACCCTCTTCTCCCCATCCCCAGTCCCCAGAAGGGGACTCAGGGTCCCCTTCCCCAACCAGCGCCCCACTGTGAGGCCTGCCGGCCTGTGAGCACAGGCTCCTGTCCCAACACGGGAAGCCCACCCTTCACCTGTTTAGCGAGTTTCACAGAGTCGCTGGTGAGCCGAGTCCGAAGCTGCGGGTCCAGGTGGGCGGCGGGGGCAATCTCGACCACCTTCTGGTGCCGCCGCTGGATGGAGCAGTCTCGCTCGTACAGGTGCAGGATGTTCCCATACTGGTCCCCTGGGGAGGGAGGTAAACTGGGCTTAGCTTTTACTGGAATCTACACGCCTCCTAAATGCCCCATCACCCCCACATAACCACTGTCGCCAGTCAGTGCCGGCTGCCAGCGGTACAGAGGCTGCCAGGAGAGACACCAGCATCACCAAGGCTGTGAGGACCAACTGCCAGCTCGGCCCCTAGAGCCCACTTTCCAGAGTCCTCTGGAAAAGCGCCCGACAGGCCCCAGGGCTGTCCCCAAGGCCAGCCACTGTGACGGCACCAGGACTGGGCCTCTCAGCTCCCGCCTCCAGCTGCCCCAGGCGGGGCGTCAGGACCACTCACCCAAGATCTGCACCTCGATGTGCCGTGGCTTCTCGATGAACTTCTCCACAAACAGCGCCCCATTCCCAAAGGCGGCCAGAGCCTCTGAGTAGGCCCGGGTGTAATTCTCCTCCAGCTCCTGCGAGGGCGGGCAGGGGCCAGCCAGACCTCAGACCCCACAGCGCTACCTCTCCCCTGCCATGAACCCCACCCACTTTCCAGATCCCTTGAGTGGTCCGCCCCTGCCCCCACG | GGGTCAGGACCTGTCCTTCTGAGGCCTGTTTTCCTGCTGGACTTGTGCCCAAAACCCCCTAGAGATGCTTGGAGAGTGCAAGCTTCCCCACCTCTGCAGGGTTTTCCAAGCTCAGCCTTACTGCTCCTAAGGGCAGTCACAAGTCCAAGTGGAACAGCTGTTTAAAAAACAAAACAAACAAACAAAAAAACCAGGCTGGGCACAGCAGGTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGAATCCCACGAGGCCAGGAGTTCGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGTAGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAAGTTGCAGTGAGCAAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTATGTCTTAAAAAAAACCACTCAAGGTTTTACATGTATTGCCACTGAGGCTTGTGGTGAAGGCAGCCTGGAACCTACACTGGCAGGATTTCCCCGTGTTCTTGCTGCCTGCTGGCCCACTTCGCAGCAGAGATGACAGCTTCCACTCAGTGCCACAGGCCAGGCTGCACTCCTCCCATGCTTCATCTCCACGACGGTGTGCTGAGAGCCCTGTCATTCCCACCAGAGGAGGAGCTCGAGGGTCAGAGAGGTTGGAGCTCACCCAGGCTCCACGTGGCTTGGGACCTGAGAGCACCTGAGCCCCAATCTGTCTGACACAAAACCCGTGCTCCACAGCAGACAGACTCCCATCCCTAACAGGACGCTCTAAGCAGACCCAAGACCGAGGAGTTCACAGCAGCTTGAGGGGAAGAGTCTCACTCGGCCAAAGTGTTGGCCTTGTCTCTAAGCTTCTCCTAAGGGGAGGGAGGGGCCTCCATGCCCCCGGCGAGCCACAGCAGCCACCCCGACAGCATCCTCAGTCTCAGGTGGGGTTGGGGCTGGGGGCAGAACTGGGGTCAGGGATGCTCCACAGTGAGATGGGCTGGCCCAAAGCAGCGTCAAGAAATTACATGGCTCATAGTAGAGACCTTGAAGGGTGAGGGCCATCATGACTGTCATTTAGAAACCAGGCGGATTTTGAAAATGTCATCCTCAGTGCCTGCAGGGAGCACGCTAGTGCCACCTCTCTAGAGGGCTGTTCCGAGGGATGCTACTTATCCTTCAATCAGATAATCCTGTTGAAGGGTTTACCCTCAGAACTCTTCAGAGCTGAAGCCAAACATTCAGGCACACAGATGATAAGTGACACGCTTAATAACCACCAAAGCCAGACACACAAACTAATTGCCTAACAATCGAGGACTATGTAAGTTAAGAAATACACACAAGACGGAATAGTACGCAGCCACTAAAAGTATTCAGACAGAATTATGGCCTGGGGAAATGCCTTCAACAAATATTAAATAATTTGAAAAGTAGAATAAAAATTCTATATAAAACATCTCTATTGCATCAAACTATGTCTCTAGTAAAACAGGTAAACCGGGAAAGGAGCAAACCAAAGACAGCCGGAGATGCCTGGGTTCCAGCGCCAGCTGTGTGACCCCGAGCAACTCTCCAAATGTCTCTGAGCCTTGCTTTACTCCTCTGACAGATGGGAGCACCTGGGCCTGAGCAATCGGCAGCGTCCTGACAGAGAGGAGGGCTGTCAGTCATTTTTATTTGCTCCTTTGTGCTGATTTTTATAATAACCACGTAATGCTTTTAGAATAATGACTTTTAAAACACTAAGTACCTGGATCCCCATTGCTCTCCACCAATGTGGGGAGTGAGCAAGCCCCCTGGCTGGCCCCAGGAGCCACTTCGCCTGTACTTTATGCAAATCCTAGAAGCCGCGCCTCCCGCCCCGCCTGCCCGCCCACACTCACTCGGTGATCTCCTCTGTGACCGTGTGCTCCACCTGCAGGCGGGAGTTGACCTCGATGAAGTAGTGCTTGCCGTGCCTGTCCACCAGGAACTCCACGGTGCCTGCGTTCTCGTAGCCACCTGTGGGGGCGGCCACGTGAGCAGGGGAGGGCACAGGCAGGGCCTGGGCAAACTCACTGGACTCAGGACAGGGATTCCGTCCCACCCATTGGGTTGGTTCCGTAAAAGAATGGCCTGTGGCAAACCCTGCCCCCACAGATGGCAGACAGACCCCAGGGCCCAGGTCATGCTCCTGCCTGGACACGTCCCCCAAGTAGTCCACTAGGCTCCAGGGTTCCCGGAGCCACAGATGGCTGCACCCAGCTTATCTGGGACGAGACATGGGCAGAAGCCCCCACCCATCCCAGGCTCGGCACCTTGCCCTGCTGCCTCCTGGGCTTGCCCGCCAAGGCTGTGTCATCCACCCAGACACGGAGACCCAGGCCTCTCCCAGCCGCTGCTTCTGCTTGGAGGTGTTTTCAGAAAGTCCCCTTCTAGTCTACTGCGCAGTCACCTCTGGCCACCACCACCCAAAGAAATTCATTTGAGAGGTACCAACAGATAATGACTCTAACTCAAATTTCAGCCCTAATTCCAGTTTCACTTTTGGTCTCACCAAAACGATAAACCAGACTGAATCACCTCCCTTAAACCTGTTCTGGAATGTGAAATAGTATAAGCCAGTAAATAAGACCTGACTTAAACGCGACCCTGGTCGATGCCTCGCATTAGCTGTGGCTGAGGCCTTGCTGCAGAGTGCACACCCCGGCCTTCGGCATGGGGAGGTGACGCATCCTCTGCTGCCTATAGGCCAGGGAAGAAGAGGGGGCAGGACCCCGCTGCACACCTGGCCACAGCAGGTGCTCTCCAGGCCAGTCCTGGGGCAGGTCACTGTGGGGAGATAGCTTGCCACCTCAGCCTCCTCCACAGCCCAGGACCCCCCGACCAGAGGTCCCAGAAAAGCAGAGATGGGCAGAGGGTGCAGAGCAAGGAAACAGATCATAATAAACATGATGTAGGAGACAGAAGCACATGAGGGAGGACTGCCTTCATAATGGTCCTCAATCTTGACAGAATCCACGGAATCTCATTCTCCTGATGACAGGGATGAGCTGATGCCACAGAGAAGCCAGGTCTGTGTAGCAGCAGGGCTGAGGAGGCGGCTGGGGCTCCTTCCCTCCCTCTTCTCAGCCATCCTGGACTCTAAGCTTGGCCTCTGGGCCAGGTGCCTCAACTGCACATGGGAAGGATGCCACAAACCCACTTCTGGCCCCCAGGAGAGTCCTTCACCCTCTTCTCCCCATCCCCAGTCCCCAGAAGGGGACTCAGGGTCCCCTTCCCCAACCAGCGCCCCACTGTGAGGCCTGCCGGCCTGTGAGCACAGGCTCCTGTCCCAACACGGGAAGCCCACCCTTCACCTGTTTAGCGAGTTTCACAGAGTCGCTGGTGAGCCGAGTCCGAAGCTGCGGGTCCAGGTGGGCGGCGGGGGCAATCTCGACCACCTTCTGGTGCCGCCGCTGGATGGAGCAGTCTCGCTCGTACAGGTGCAGGATGTTCCCATACTGGTCCCCTGGGGAGGGAGGTAAACTGGGCTTAGCTTTTACTGGAATCTACACGCCTCCTAAATGCCCCATCACCCCCACATAACCACTGTCGCCAGTCAGTGCCGGCTGCCAGCGGTACAGAGGCTGCCAGGAGAGACACCAGCATCACCAAGGCTGTGAGGACCAACTGCCAGCTCGGCCCCTAGAGCCCACTTTCCAGAGTCCTCTGGAAAAGCGCCCGACAGGCCCCAGGGCTGTCCCCAAGGCCAGCCACTGTGACGGCACCAGGACTGGGCCTCTCAGCTCCCGCCTCCAGCTGCCCCAGGCGGGGCGTCAGGACCACTCACCCAAGATCTGCACCTCGATGTGCCGTGGCTTCTCGATGAACTTCTCCACAAACAGCGCCCCATTCCCAAAGGCGGCCAGAGCCTCTGAGTAGGCCCGGGTGTAATTCTCCTCCAGCTCCTGCGAGGGCGGGCAGGGGCCAGCCAGACCTCAGACCCCACAGCGCTACCTCTCCCCTGCCATGAACCCCACCCACTTTCCAGATCCCTTGAGTGGTCCGCCCCTGCCCCCACGN | pathogenic | 179,185 |
A mutation at chromosome position 67365147 on chromosome 11 in gene CLCF1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GTGGACAGAGACAGGCAGGAGTCCTGGGGAAGCTGGGGAGTGAAGCCCAGGGGCTGACTGCTCAGGGTAGAGCACCAGAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAGCCAGGCATGGTGGTGCACCCCTGTAATCCCAGCTACTCGAGAGGCTGAAGCATGAGAATCATTTGAACCCAGGAAGCAGAGATTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGATAACAGAGTAAGACTCTCTCAAAGAAAAACCAAGGCCGGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGGGCTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAACCGAATCCCAGAAAGGTGAGGAAGACTTAGCAAAGGTGGGGTGAGGGAAACCTGGGGTGGACAGAAGCTGTGTGGGAGGACTGAGGGATCAAGGGGTTGGTGGTGGCAGCAGCAGTGGGTAAGTCTGAGGTGCGCCCATCGCCCCAGTGCGGGGAGGAAGAGGGCCTCTTCCCAGAGCTCTGTGCAGCTCCACCAGAGGCAAGCAGGGAGTGGGAGCCAGGGGTGGCAAGAGTCTGATGAGCACCAGGAGGGGTGAGGCTGGGCAAAGAGACTAAGTTCTGGGGCAAGCATTTTATTTGTTAATACAAGAATAGAAATTCTGCAATAAATATCATCTAATAAATAACATCTCCAAATAAATAAATATTAATACAACACACTTAGAGTCATGAGTGGGTGGGGCTGGGGGGCAGGGCCTTGGGGAGCTGCCACCCTACACCCCAAAATGCTACTGCATTGTAAACTTTCAGGAAATCCTGTGGTGTGGCTATGGTTGCCCTCCCCAGCCTGGCAACCCACAGATACCCTGGGAAAGGGGGCAGAGAAGAGGCACCGTAATACTGGAAGACAATTCGAGGCAAGGTCCTGATGCTCAGCTCGGGTTTTGTTTGCCACTCTGTGCTTTGGAGACTCCTGGGTCTGGTCTGGTCTGTCCCTGCCCCTGTGCTTTCAGTATTTTCTCTTCTGGTTTATAGGGCACCTCCAATGCAGACCCCAACCCTGCACTGTTAATCTCATCTCTTTTTGTGTAGAATTGCCACCATGTTTGTTTCCTGAATTGGATGTATAGAGTGATTTGGGGATAAGGGAGCAACACCCATCCAAGGAGAGTGGGGCAGCCAAAGGGCTTCACCCCAGAAAGGCATGTGTGGTGGTGGCCCCTCAACCCCTGCCCTCCAGATGTGCCACCTGAGGGGCTGGGTGGGCACTGGCCAAGTGGTAGGCAAGAAGCAGGAGGCCATGAGCGCCTCTGCACCAACCTGAACCACTTCACACTCCCTCGAGCATGACTTCCTGTAGAAACAGGACAGGACAGGGCCTACTGTACCTCCTCCCCAGCTCGGTAGACCTTTGGGAGGTGGGGAGGAGACAGGGCTGATCGCATCACACGCCCAGCCGGTCCAGGAAAGGGCCAGAGGCTCACAGCTTCTGTCTCCTGGCTCAACAGGTGTTGGCATACAGGGCTGGCTCTCACAAAGTGGGAGCAGGGTTTGAAGGGGGAGCGAAGAGGAGAAGGTCAGAAGTCAGAAGCCATGAGCCCCCAGGTGCAGGGTGACTGCAGCTGCTGGAGGCTGCATCTTCTTCTTGAGCCGGTTGAAGTCCTTGGCCGAGCGCCACAGCCAGGTCTGCAGCTCCTTCAGCAGCCAGAAGTCGTCCATCTTCTGGAGGAAGTCACTGTGGGCAGGGCCAGGAGTCCAAGTGGGTTCAGTCCCAGGCAGCGGCTGGGGCAGTGGGTAGCCCAGAGCTGCCATGACGCCCGCAATGCTGCCCAGCAGGCCCTGGAGGCTGGTGCAGAAGTGGGCCAGGCTGCGGCGCAGCTCAGCAGTGGCAGCCTGACGGTTGAGGCCACGCAAGTAACACAGAAGGTGGCTGTAGGCCTCGTAGTTCTGGGTCAGCCGCAGTTTGTCATTGAGGCTTCGCCACACCTCCAAGTCAACAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAGGAGGAGGAGGAGACGCACAAGACGCTCAGGAAGGACGTGCTGATTGGCTGGGTGGGCAAACCTTGGGAGAGTGCCCGCTGTGGGGGCAGGACAGAGAGGAAGAGGAGCCTGGAGGAGCTGGAGAGGTAGAAGGTGGCCCAGGAGAGTGCAGAGACCAAGGAAGAGGAGTTCGAGAAGGCAGCAGCGCTCAGCAGTGTGGCTGCAAAACAGACAGCAAGGAGAATGAGCCTTCAAAACACTGTCGGGCTTGGCAAGGAGGTGCCTGACGACCTTGGAGAGAACCATTGCTGGGGCCTGGAAGCCAGATTGCAGGGGGTTAAGAAGTGAGTGGGTGGAGAGGAAGTGGAGGCAGAGGGTGTAGACCACTCCTTGGAGAAATTTGGCAGGGAAAGCCAGGAGAGAAAAAGGGTCGGGAACTAGAGAGGGCAGTGGAGTGAAGCAAAGGTTTTCTGCACAAGGAACAAGAGAGAGATGAGAGTGGCCCATTGGAACCAGAGCCCCATTTGCCGCTGACACACCCAGGCCCACCAGCTGAGGGGCTGGGGAGAGACGGGTACTCACTAACACTCCGAAAGAAGGGTTCAGCTGATAGGAGCAGGGTTGCAGAAGGAAGAAATGGAGGCAGTCTCATGAGTAGGACAGGAGGAAGGCTATGGAAGACAGCATGGTATAGGGAAGAGGGCAGAGCCCTTTCCAACCCTCGGGGGAGCGGCTGGGGCCCAGGGAAAGGGATGAGGGAGATGTATAACTGGGAAAGAAGGGAGAAGCAAGGGGAGAGGCCTGGGATAGGCAAGGGCCCAGGGGGAGGTTCACACGCTGACAAGCACAGAGACAAACTAATTTCCTCGGTGTATCCTGGGGCTGGAGCCAGCTCCCCCGCCACCCTCCTCCCTTTTCTTTCCCTGGCTCCAGAGTAGGGTCTGGGATGTGGAAGAGGAACACGGGAAGAGGGGGCCGGTTCCCCATGGTCCTCGGCTCCTCCAACCCTCCTTCCTTCTCTCCTGGGCTCTCTGAACACCTCTGGACCACCCCCAAATCCTTACAGCATAACCTCCATCCACACCCTAAACCCCCTGCCACTACTGCCTGGGTTCCCTACAGTCCCCTTCCCCCATGACCCCCCTAGGAGGCCCAGCTAGGATGGGAGAGGCAGACGGAAGGGAGGCCCCTGGGTCCAGAGCAGCAGGGCCCCAGGTCTGGGGGCAGAGGCGAGCTGGAACGCAGGCATGGGAGGTGGGGCCCCTCTGTCCCCACCCAACCCCGCCCGCGCAAGAGACACCACAACACGGTGTAAACAGAGGAGACTTCCCCGGCCCCCAGGGGGAG | GTGGACAGAGACAGGCAGGAGTCCTGGGGAAGCTGGGGAGTGAAGCCCAGGGGCTGACTGCTCAGGGTAGAGCACCAGAAGCACAGATGAATAGCTTTGCTCATCATAAGGAGGCTGGGCCAGAGGGCAGAAATAGAAATTCAAGGTGGGAAGACAGACCTGTGAGACCATTAATGCAATCCAGGAAGGTGAGGCTGGCCAGGCGAGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTAGGTGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAGCCAGGCATGGTGGTGCACCCCTGTAATCCCAGCTACTCGAGAGGCTGAAGCATGAGAATCATTTGAACCCAGGAAGCAGAGATTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCCTGGATAACAGAGTAAGACTCTCTCAAAGAAAAACCAAGGCCGGGCACAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGACCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGAGGCGGGGCTTGCAGTGAGCCGAGATCGCGTCACTGCACTCCAGCCTGGGCGACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAGAAAACCGAATCCCAGAAAGGTGAGGAAGACTTAGCAAAGGTGGGGTGAGGGAAACCTGGGGTGGACAGAAGCTGTGTGGGAGGACTGAGGGATCAAGGGGTTGGTGGTGGCAGCAGCAGTGGGTAAGTCTGAGGTGCGCCCATCGCCCCAGTGCGGGGAGGAAGAGGGCCTCTTCCCAGAGCTCTGTGCAGCTCCACCAGAGGCAAGCAGGGAGTGGGAGCCAGGGGTGGCAAGAGTCTGATGAGCACCAGGAGGGGTGAGGCTGGGCAAAGAGACTAAGTTCTGGGGCAAGCATTTTATTTGTTAATACAAGAATAGAAATTCTGCAATAAATATCATCTAATAAATAACATCTCCAAATAAATAAATATTAATACAACACACTTAGAGTCATGAGTGGGTGGGGCTGGGGGGCAGGGCCTTGGGGAGCTGCCACCCTACACCCCAAAATGCTACTGCATTGTAAACTTTCAGGAAATCCTGTGGTGTGGCTATGGTTGCCCTCCCCAGCCTGGCAACCCACAGATACCCTGGGAAAGGGGGCAGAGAAGAGGCACCGTAATACTGGAAGACAATTCGAGGCAAGGTCCTGATGCTCAGCTCGGGTTTTGTTTGCCACTCTGTGCTTTGGAGACTCCTGGGTCTGGTCTGGTCTGTCCCTGCCCCTGTGCTTTCAGTATTTTCTCTTCTGGTTTATAGGGCACCTCCAATGCAGACCCCAACCCTGCACTGTTAATCTCATCTCTTTTTGTGTAGAATTGCCACCATGTTTGTTTCCTGAATTGGATGTATAGAGTGATTTGGGGATAAGGGAGCAACACCCATCCAAGGAGAGTGGGGCAGCCAAAGGGCTTCACCCCAGAAAGGCATGTGTGGTGGTGGCCCCTCAACCCCTGCCCTCCAGATGTGCCACCTGAGGGGCTGGGTGGGCACTGGCCAAGTGGTAGGCAAGAAGCAGGAGGCCATGAGCGCCTCTGCACCAACCTGAACCACTTCACACTCCCTCGAGCATGACTTCCTGTAGAAACAGGACAGGACAGGGCCTACTGTACCTCCTCCCCAGCTCGGTAGACCTTTGGGAGGTGGGGAGGAGACAGGGCTGATCGCATCACACGCCCAGCCGGTCCAGGAAAGGGCCAGAGGCTCACAGCTTCTGTCTCCTGGCTCAACAGGTGTTGGCATACAGGGCTGGCTCTCACAAAGTGGGAGCAGGGTTTGAAGGGGGAGCGAAGAGGAGAAGGTCAGAAGTCAGAAGCCATGAGGTGCAGGGTGACTGCAGCTGCTGGAGGCTGCATCTTCTTCTTGAGCCGGTTGAAGTCCTTGGCCGAGCGCCACAGCCAGGTCTGCAGCTCCTTCAGCAGCCAGAAGTCGTCCATCTTCTGGAGGAAGTCACTGTGGGCAGGGCCAGGAGTCCAAGTGGGTTCAGTCCCAGGCAGCGGCTGGGGCAGTGGGTAGCCCAGAGCTGCCATGACGCCCGCAATGCTGCCCAGCAGGCCCTGGAGGCTGGTGCAGAAGTGGGCCAGGCTGCGGCGCAGCTCAGCAGTGGCAGCCTGACGGTTGAGGCCACGCAAGTAACACAGAAGGTGGCTGTAGGCCTCGTAGTTCTGGGTCAGCCGCAGTTTGTCATTGAGGCTTCGCCACACCTCCAAGTCAACAGTGGCCCTGGGCAGAGTCTCTGCCCCCAGGCGGGGAGGGTTGAAGTCTGGCTCGTTGAAAGGGGGGCCCAGGTAGTTCAGCTGTGAAAAGGAGAGGGTGATGGGGAAGGAGGAGGGCAGAGCCGCTGGCTCACCACCAAGGAGATACCTGCTCCCAAAGTTTCTATTTTTTGTGTCCCCTGACACTGGCCCTGTCTCCATGCTAGGCTTCTTTGTTCATGGCCTCCCTGAGTTTTTCCAATAAGGATATCATTTGTATGCAGGTGACAGTTGAAGCAGTGGCGGTGGTGAGCTCTCCAATGGAGAGGCGTAGAAAAAGGAGGAGGAGGAGACGCACAAGACGCTCAGGAAGGACGTGCTGATTGGCTGGGTGGGCAAACCTTGGGAGAGTGCCCGCTGTGGGGGCAGGACAGAGAGGAAGAGGAGCCTGGAGGAGCTGGAGAGGTAGAAGGTGGCCCAGGAGAGTGCAGAGACCAAGGAAGAGGAGTTCGAGAAGGCAGCAGCGCTCAGCAGTGTGGCTGCAAAACAGACAGCAAGGAGAATGAGCCTTCAAAACACTGTCGGGCTTGGCAAGGAGGTGCCTGACGACCTTGGAGAGAACCATTGCTGGGGCCTGGAAGCCAGATTGCAGGGGGTTAAGAAGTGAGTGGGTGGAGAGGAAGTGGAGGCAGAGGGTGTAGACCACTCCTTGGAGAAATTTGGCAGGGAAAGCCAGGAGAGAAAAAGGGTCGGGAACTAGAGAGGGCAGTGGAGTGAAGCAAAGGTTTTCTGCACAAGGAACAAGAGAGAGATGAGAGTGGCCCATTGGAACCAGAGCCCCATTTGCCGCTGACACACCCAGGCCCACCAGCTGAGGGGCTGGGGAGAGACGGGTACTCACTAACACTCCGAAAGAAGGGTTCAGCTGATAGGAGCAGGGTTGCAGAAGGAAGAAATGGAGGCAGTCTCATGAGTAGGACAGGAGGAAGGCTATGGAAGACAGCATGGTATAGGGAAGAGGGCAGAGCCCTTTCCAACCCTCGGGGGAGCGGCTGGGGCCCAGGGAAAGGGATGAGGGAGATGTATAACTGGGAAAGAAGGGAGAAGCAAGGGGAGAGGCCTGGGATAGGCAAGGGCCCAGGGGGAGGTTCACACGCTGACAAGCACAGAGACAAACTAATTTCCTCGGTGTATCCTGGGGCTGGAGCCAGCTCCCCCGCCACCCTCCTCCCTTTTCTTTCCCTGGCTCCAGAGTAGGGTCTGGGATGTGGAAGAGGAACACGGGAAGAGGGGGCCGGTTCCCCATGGTCCTCGGCTCCTCCAACCCTCCTTCCTTCTCTCCTGGGCTCTCTGAACACCTCTGGACCACCCCCAAATCCTTACAGCATAACCTCCATCCACACCCTAAACCCCCTGCCACTACTGCCTGGGTTCCCTACAGTCCCCTTCCCCCATGACCCCCCTAGGAGGCCCAGCTAGGATGGGAGAGGCAGACGGAAGGGAGGCCCCTGGGTCCAGAGCAGCAGGGCCCCAGGTCTGGGGGCAGAGGCGAGCTGGAACGCAGGCATGGGAGGTGGGGCCCCTCTGTCCCCACCCAACCCCGCCCGCGCAAGAGACACCACAACACGGTGTAAACAGAGGAGACTTCCCCGGCCCCCAGGGGGAGNNNNNNN | benign | 179,211 |
The chromosome 11, position 67455483 genetic variant in gene CABP4 (calcium binding protein 4): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Cone-rod_synaptic_disorder,_congenital_nonprogressive', 'Retinal_dystrophy'] | CCCAGCACTTTGGGAGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCCCAGGGTTCCAGGGAACACAGTTTGAAGACCGTTTGGTCCGCTCATCACAAGGCCCCTTTATGCCTGCTCCTCTGGGGTTCGAGTGTTTAGGATTCCAAGAAGGGAGGGCTCTGGTTCCCATGGGCCCAGGGGACCCGAAGGTAGGGAGTCTGGGGCAGTGGGAACCCCCTCCCCTCCAGCGAGTGTCACTCATGGGCTCAGGATGAGGTCTCTGAGCCTCAGGACCCCACAGCCTGGGGTCAGGAGGGCCATCCTAGGAGCCCCTGGTGCCTCTCCAGCATCTTCCACCCCACCGCGGCCCTCTCCCGCTTCCCACAGCTCAGGCAGGAGGTGACCCCTGTTTGTCTCCTGGAGCTGCTAAAGAGAGGGGGAGGGGCTCTGCAGTGGGATGGTGGTGGGATGGTGAGGGTGAGGGGAGTTGGAGGGCACCCAGACCTGGGATCCAAGAGGCCTGCAGCCCCACCTCGCCCTTCCCCGCTGGCAGCGGGGAGGGAGTTTCCCTTTGAGGGCGATGAGAGCCCAGGTGGTGGTATAGTCTGGGGAGGGAACGGATGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACCCAAGCTGAGAGGACATCAATTATTTATGGGGCTGCTTGCTGGGAAACCCTAACCCTGGCCCAGTAGGGCCAAGTGACCAGCCAGACCCCCTCCCCCAGCCCTGATGGGCCTGGACAGTCAGACCCTCCTCCCCAGGGCCTCTCTAGCCCAGAGCAGACTCTAAGACCCCAAGGTCCACCTCCTCCCACATCACCCCCCGTGCTCCTCAAAACGGCATTCGAGGCATCTGTGATCTGGCCTCTTCCTCCATTTCACACACCCTCTGCTCTGGCCAGGATGTCACCCATGGGGGGGCCCCAGTAGGCCACTCGCTCATCCTTTCCCACCTCCCAGCCGTTGTCCGCATGCCTCCTGCCACCTGAGATGCCTTCCCTGGTCCTCTCTGCCTAACGAAGGCCTCTGCCCATGTCACACATGAGCTGAGTCTTCTGCGCTCTAGCATTATTCCCCATGTTTTATAGATAGGGAAACTGAGGCTGGGAGGGGAATTTGCTGGATCCCCCAGCTAATAAGTAGCAGATCTGGCATCTGAGGCTCATGGCAGCCACCACGTCCTGGTGCCCCTTGCTTCTGACCAAGGACAGTTCTCTGGACCCATCTGGCTCTGCCCTGGCCAGCCCTGGGGCAGAGGACTGGGATTAGGGCCAGGGCTGCCTGCCTCACTTACCCTAATCCCCCTCAGAGCCCGATCCTAGGCTCTCAGCTCTAAGAGTGGGGGTGCATAAGCAGCTTTATGGGTCCTGAAAGCCAAGGGTGCCCAGGGGTGTGGTGTCTCTGAGCCCTGTTATCCCTCCCCCATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAGCCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAGAGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAGCAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCGGCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGTCCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTCGGGAAGGTTAGGTGGGACCTGGATTGGGCTGGGGGTCCTGGGGGTGGGGCTGGAGACACACCCCTTGGGCTCAGCTCACCCTGCCCCTGAGAGGCCCTCTGCCTCTTCTGCCCCAGACTGAGCCTGGGCTGTGGGGCAGGGTTGCTGCGGTTTGGGGAAGGGTAGGTCTCGGGCCAGCGTGGGCGGTGGGCAGAGCCAGAATTCACACCAGGGCTCTGTGGGAGCTCCAGGCTCTAGGAGCACAAAAGGGAGCTTGCTCCTCCTGGGTCCCACGAGGCTTCAGGGTCCTTTTCCTACTCTGATGGGGCTGGGCCCTGCCCAGGCCAACATGAGCAGGGGATGAAGGAGGAAGGATGACAGAGCCGTGGCTGGCCCTGGGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTGAGTGGCTCTTGCTGCTGGCAGGGGGTGGGAGCTGTCCCTGAGCCTGGCCACCTGGGCTTGACCTCCCTCCTCCACAGAGCTTCAGGCCGCCTTCGAGGAGTTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGA | CCCAGCACTTTGGGAGGATCACCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCCCAGGGTTCCAGGGAACACAGTTTGAAGACCGTTTGGTCCGCTCATCACAAGGCCCCTTTATGCCTGCTCCTCTGGGGTTCGAGTGTTTAGGATTCCAAGAAGGGAGGGCTCTGGTTCCCATGGGCCCAGGGGACCCGAAGGTAGGGAGTCTGGGGCAGTGGGAACCCCCTCCCCTCCAGCGAGTGTCACTCATGGGCTCAGGATGAGGTCTCTGAGCCTCAGGACCCCACAGCCTGGGGTCAGGAGGGCCATCCTAGGAGCCCCTGGTGCCTCTCCAGCATCTTCCACCCCACCGCGGCCCTCTCCCGCTTCCCACAGCTCAGGCAGGAGGTGACCCCTGTTTGTCTCCTGGAGCTGCTAAAGAGAGGGGGAGGGGCTCTGCAGTGGGATGGTGGTGGGATGGTGAGGGTGAGGGGAGTTGGAGGGCACCCAGACCTGGGATCCAAGAGGCCTGCAGCCCCACCTCGCCCTTCCCCGCTGGCAGCGGGGAGGGAGTTTCCCTTTGAGGGCGATGAGAGCCCAGGTGGTGGTATAGTCTGGGGAGGGAACGGATGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACCCAAGCTGAGAGGACATCAATTATTTATGGGGCTGCTTGCTGGGAAACCCTAACCCTGGCCCAGTAGGGCCAAGTGACCAGCCAGACCCCCTCCCCCAGCCCTGATGGGCCTGGACAGTCAGACCCTCCTCCCCAGGGCCTCTCTAGCCCAGAGCAGACTCTAAGACCCCAAGGTCCACCTCCTCCCACATCACCCCCCGTGCTCCTCAAAACGGCATTCGAGGCATCTGTGATCTGGCCTCTTCCTCCATTTCACACACCCTCTGCTCTGGCCAGGATGTCACCCATGGGGGGGCCCCAGTAGGCCACTCGCTCATCCTTTCCCACCTCCCAGCCGTTGTCCGCATGCCTCCTGCCACCTGAGATGCCTTCCCTGGTCCTCTCTGCCTAACGAAGGCCTCTGCCCATGTCACACATGAGCTGAGTCTTCTGCGCTCTAGCATTATTCCCCATGTTTTATAGATAGGGAAACTGAGGCTGGGAGGGGAATTTGCTGGATCCCCCAGCTAATAAGTAGCAGATCTGGCATCTGAGGCTCATGGCAGCCACCACGTCCTGGTGCCCCTTGCTTCTGACCAAGGACAGTTCTCTGGACCCATCTGGCTCTGCCCTGGCCAGCCCTGGGGCAGAGGACTGGGATTAGGGCCAGGGCTGCCTGCCTCACTTACCCTAATCCCCCTCAGAGCCCGATCCTAGGCTCTCAGCTCTAAGAGTGGGGGTGCATAAGCAGCTTTATGGGTCCTGAAAGCCAAGGGTGCCCAGGGGTGTGGTGTCTCTGAGCCCTGTTATCCCTCCCCCATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAGCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAGAGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAGCAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCGGCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGTCCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTCGGGAAGGTTAGGTGGGACCTGGATTGGGCTGGGGGTCCTGGGGGTGGGGCTGGAGACACACCCCTTGGGCTCAGCTCACCCTGCCCCTGAGAGGCCCTCTGCCTCTTCTGCCCCAGACTGAGCCTGGGCTGTGGGGCAGGGTTGCTGCGGTTTGGGGAAGGGTAGGTCTCGGGCCAGCGTGGGCGGTGGGCAGAGCCAGAATTCACACCAGGGCTCTGTGGGAGCTCCAGGCTCTAGGAGCACAAAAGGGAGCTTGCTCCTCCTGGGTCCCACGAGGCTTCAGGGTCCTTTTCCTACTCTGATGGGGCTGGGCCCTGCCCAGGCCAACATGAGCAGGGGATGAAGGAGGAAGGATGACAGAGCCGTGGCTGGCCCTGGGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTGAGTGGCTCTTGCTGCTGGCAGGGGGTGGGAGCTGTCCCTGAGCCTGGCCACCTGGGCTTGACCTCCCTCCTCCACAGAGCTTCAGGCCGCCTTCGAGGAGTTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGAN | pathogenic | 179,216 |
Is the genetic change at chromosome 11, position 67455504, within gene CABP4 (calcium binding protein 4) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_synaptic_disorder,_congenital_nonprogressive'] | CCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCCCAGGGTTCCAGGGAACACAGTTTGAAGACCGTTTGGTCCGCTCATCACAAGGCCCCTTTATGCCTGCTCCTCTGGGGTTCGAGTGTTTAGGATTCCAAGAAGGGAGGGCTCTGGTTCCCATGGGCCCAGGGGACCCGAAGGTAGGGAGTCTGGGGCAGTGGGAACCCCCTCCCCTCCAGCGAGTGTCACTCATGGGCTCAGGATGAGGTCTCTGAGCCTCAGGACCCCACAGCCTGGGGTCAGGAGGGCCATCCTAGGAGCCCCTGGTGCCTCTCCAGCATCTTCCACCCCACCGCGGCCCTCTCCCGCTTCCCACAGCTCAGGCAGGAGGTGACCCCTGTTTGTCTCCTGGAGCTGCTAAAGAGAGGGGGAGGGGCTCTGCAGTGGGATGGTGGTGGGATGGTGAGGGTGAGGGGAGTTGGAGGGCACCCAGACCTGGGATCCAAGAGGCCTGCAGCCCCACCTCGCCCTTCCCCGCTGGCAGCGGGGAGGGAGTTTCCCTTTGAGGGCGATGAGAGCCCAGGTGGTGGTATAGTCTGGGGAGGGAACGGATGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACCCAAGCTGAGAGGACATCAATTATTTATGGGGCTGCTTGCTGGGAAACCCTAACCCTGGCCCAGTAGGGCCAAGTGACCAGCCAGACCCCCTCCCCCAGCCCTGATGGGCCTGGACAGTCAGACCCTCCTCCCCAGGGCCTCTCTAGCCCAGAGCAGACTCTAAGACCCCAAGGTCCACCTCCTCCCACATCACCCCCCGTGCTCCTCAAAACGGCATTCGAGGCATCTGTGATCTGGCCTCTTCCTCCATTTCACACACCCTCTGCTCTGGCCAGGATGTCACCCATGGGGGGGCCCCAGTAGGCCACTCGCTCATCCTTTCCCACCTCCCAGCCGTTGTCCGCATGCCTCCTGCCACCTGAGATGCCTTCCCTGGTCCTCTCTGCCTAACGAAGGCCTCTGCCCATGTCACACATGAGCTGAGTCTTCTGCGCTCTAGCATTATTCCCCATGTTTTATAGATAGGGAAACTGAGGCTGGGAGGGGAATTTGCTGGATCCCCCAGCTAATAAGTAGCAGATCTGGCATCTGAGGCTCATGGCAGCCACCACGTCCTGGTGCCCCTTGCTTCTGACCAAGGACAGTTCTCTGGACCCATCTGGCTCTGCCCTGGCCAGCCCTGGGGCAGAGGACTGGGATTAGGGCCAGGGCTGCCTGCCTCACTTACCCTAATCCCCCTCAGAGCCCGATCCTAGGCTCTCAGCTCTAAGAGTGGGGGTGCATAAGCAGCTTTATGGGTCCTGAAAGCCAAGGGTGCCCAGGGGTGTGGTGTCTCTGAGCCCTGTTATCCCTCCCCCATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAGCCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAGAGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAGCAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCGGCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGTCCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTCGGGAAGGTTAGGTGGGACCTGGATTGGGCTGGGGGTCCTGGGGGTGGGGCTGGAGACACACCCCTTGGGCTCAGCTCACCCTGCCCCTGAGAGGCCCTCTGCCTCTTCTGCCCCAGACTGAGCCTGGGCTGTGGGGCAGGGTTGCTGCGGTTTGGGGAAGGGTAGGTCTCGGGCCAGCGTGGGCGGTGGGCAGAGCCAGAATTCACACCAGGGCTCTGTGGGAGCTCCAGGCTCTAGGAGCACAAAAGGGAGCTTGCTCCTCCTGGGTCCCACGAGGCTTCAGGGTCCTTTTCCTACTCTGATGGGGCTGGGCCCTGCCCAGGCCAACATGAGCAGGGGATGAAGGAGGAAGGATGACAGAGCCGTGGCTGGCCCTGGGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTGAGTGGCTCTTGCTGCTGGCAGGGGGTGGGAGCTGTCCCTGAGCCTGGCCACCTGGGCTTGACCTCCCTCCTCCACAGAGCTTCAGGCCGCCTTCGAGGAGTTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTG | CCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTGGCTGGCCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGTGGTGAGCCAAGATCGTGCCATCGCACTCCAGCCTGAGTAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAGTATTCTAGTGGAACTCCTATATGGACTAAAAGGGGGTGCTCAAATTAAGGGAGGGAAGAGTACCCCTACCCCCCAGGGTTCCAGGGAACACAGTTTGAAGACCGTTTGGTCCGCTCATCACAAGGCCCCTTTATGCCTGCTCCTCTGGGGTTCGAGTGTTTAGGATTCCAAGAAGGGAGGGCTCTGGTTCCCATGGGCCCAGGGGACCCGAAGGTAGGGAGTCTGGGGCAGTGGGAACCCCCTCCCCTCCAGCGAGTGTCACTCATGGGCTCAGGATGAGGTCTCTGAGCCTCAGGACCCCACAGCCTGGGGTCAGGAGGGCCATCCTAGGAGCCCCTGGTGCCTCTCCAGCATCTTCCACCCCACCGCGGCCCTCTCCCGCTTCCCACAGCTCAGGCAGGAGGTGACCCCTGTTTGTCTCCTGGAGCTGCTAAAGAGAGGGGGAGGGGCTCTGCAGTGGGATGGTGGTGGGATGGTGAGGGTGAGGGGAGTTGGAGGGCACCCAGACCTGGGATCCAAGAGGCCTGCAGCCCCACCTCGCCCTTCCCCGCTGGCAGCGGGGAGGGAGTTTCCCTTTGAGGGCGATGAGAGCCCAGGTGGTGGTATAGTCTGGGGAGGGAACGGATGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACCCAAGCTGAGAGGACATCAATTATTTATGGGGCTGCTTGCTGGGAAACCCTAACCCTGGCCCAGTAGGGCCAAGTGACCAGCCAGACCCCCTCCCCCAGCCCTGATGGGCCTGGACAGTCAGACCCTCCTCCCCAGGGCCTCTCTAGCCCAGAGCAGACTCTAAGACCCCAAGGTCCACCTCCTCCCACATCACCCCCCGTGCTCCTCAAAACGGCATTCGAGGCATCTGTGATCTGGCCTCTTCCTCCATTTCACACACCCTCTGCTCTGGCCAGGATGTCACCCATGGGGGGGCCCCAGTAGGCCACTCGCTCATCCTTTCCCACCTCCCAGCCGTTGTCCGCATGCCTCCTGCCACCTGAGATGCCTTCCCTGGTCCTCTCTGCCTAACGAAGGCCTCTGCCCATGTCACACATGAGCTGAGTCTTCTGCGCTCTAGCATTATTCCCCATGTTTTATAGATAGGGAAACTGAGGCTGGGAGGGGAATTTGCTGGATCCCCCAGCTAATAAGTAGCAGATCTGGCATCTGAGGCTCATGGCAGCCACCACGTCCTGGTGCCCCTTGCTTCTGACCAAGGACAGTTCTCTGGACCCATCTGGCTCTGCCCTGGCCAGCCCTGGGGCAGAGGACTGGGATTAGGGCCAGGGCTGCCTGCCTCACTTACCCTAATCCCCCTCAGAGCCCGATCCTAGGCTCTCAGCTCTAAGAGTGGGGGTGCATAAGCAGCTTTATGGGTCCTGAAAGCCAAGGGTGCCCAGGGGTGTGGTGTCTCTGAGCCCTGTTATCCCTCCCCCATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAGCCCCCTGCGGGGGTTGTGACTACCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAGAGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAGCAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCGGCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGTCCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTCGGGAAGGTTAGGTGGGACCTGGATTGGGCTGGGGGTCCTGGGGGTGGGGCTGGAGACACACCCCTTGGGCTCAGCTCACCCTGCCCCTGAGAGGCCCTCTGCCTCTTCTGCCCCAGACTGAGCCTGGGCTGTGGGGCAGGGTTGCTGCGGTTTGGGGAAGGGTAGGTCTCGGGCCAGCGTGGGCGGTGGGCAGAGCCAGAATTCACACCAGGGCTCTGTGGGAGCTCCAGGCTCTAGGAGCACAAAAGGGAGCTTGCTCCTCCTGGGTCCCACGAGGCTTCAGGGTCCTTTTCCTACTCTGATGGGGCTGGGCCCTGCCCAGGCCAACATGAGCAGGGGATGAAGGAGGAAGGATGACAGAGCCGTGGCTGGCCCTGGGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTGAGTGGCTCTTGCTGCTGGCAGGGGGTGGGAGCTGTCCCTGAGCCTGGCCACCTGGGCTTGACCTCCCTCCTCCACAGAGCTTCAGGCCGCCTTCGAGGAGTTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGT | pathogenic | 179,217 |
Chromosome 11, position 67456355, gene CABP4 (calcium binding protein 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACCCAAGCTGAGAGGACATCAATTATTTATGGGGCTGCTTGCTGGGAAACCCTAACCCTGGCCCAGTAGGGCCAAGTGACCAGCCAGACCCCCTCCCCCAGCCCTGATGGGCCTGGACAGTCAGACCCTCCTCCCCAGGGCCTCTCTAGCCCAGAGCAGACTCTAAGACCCCAAGGTCCACCTCCTCCCACATCACCCCCCGTGCTCCTCAAAACGGCATTCGAGGCATCTGTGATCTGGCCTCTTCCTCCATTTCACACACCCTCTGCTCTGGCCAGGATGTCACCCATGGGGGGGCCCCAGTAGGCCACTCGCTCATCCTTTCCCACCTCCCAGCCGTTGTCCGCATGCCTCCTGCCACCTGAGATGCCTTCCCTGGTCCTCTCTGCCTAACGAAGGCCTCTGCCCATGTCACACATGAGCTGAGTCTTCTGCGCTCTAGCATTATTCCCCATGTTTTATAGATAGGGAAACTGAGGCTGGGAGGGGAATTTGCTGGATCCCCCAGCTAATAAGTAGCAGATCTGGCATCTGAGGCTCATGGCAGCCACCACGTCCTGGTGCCCCTTGCTTCTGACCAAGGACAGTTCTCTGGACCCATCTGGCTCTGCCCTGGCCAGCCCTGGGGCAGAGGACTGGGATTAGGGCCAGGGCTGCCTGCCTCACTTACCCTAATCCCCCTCAGAGCCCGATCCTAGGCTCTCAGCTCTAAGAGTGGGGGTGCATAAGCAGCTTTATGGGTCCTGAAAGCCAAGGGTGCCCAGGGGTGTGGTGTCTCTGAGCCCTGTTATCCCTCCCCCATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAGCCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAGAGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAGCAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCGGCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGTCCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTCGGGAAGGTTAGGTGGGACCTGGATTGGGCTGGGGGTCCTGGGGGTGGGGCTGGAGACACACCCCTTGGGCTCAGCTCACCCTGCCCCTGAGAGGCCCTCTGCCTCTTCTGCCCCAGACTGAGCCTGGGCTGTGGGGCAGGGTTGCTGCGGTTTGGGGAAGGGTAGGTCTCGGGCCAGCGTGGGCGGTGGGCAGAGCCAGAATTCACACCAGGGCTCTGTGGGAGCTCCAGGCTCTAGGAGCACAAAAGGGAGCTTGCTCCTCCTGGGTCCCACGAGGCTTCAGGGTCCTTTTCCTACTCTGATGGGGCTGGGCCCTGCCCAGGCCAACATGAGCAGGGGATGAAGGAGGAAGGATGACAGAGCCGTGGCTGGCCCTGGGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTGAGTGGCTCTTGCTGCTGGCAGGGGGTGGGAGCTGTCCCTGAGCCTGGCCACCTGGGCTTGACCTCCCTCCTCCACAGAGCTTCAGGCCGCCTTCGAGGAGTTTGACACTGACCGTGACGGCTACATCAGCCACCGGGAGCTGGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTGACACTCTTCCTGGGTCTGCAGTGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAGGAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAGAGGGGGGCAGGGCTGGGTGGCATCCTTGCTGGCCTCTCACTCAGGTCTCAGCCTTGGGAAGGCCTAGAGCCCTGCAGGCGGTGGGACTGGGGCCCAGGGATGGGTCAGAGATGGTTCAGATCACTACCAGCTAGAGGATCCGTCCAGGGGGACTTCCTGGAGCAGGAGGCAAACCACCTTGGTGTGGGAGGGTGTGGAAGGTGTGCATGGGCAGAGATGGTGGGCAGGGGAGCATCTAGGTACAGGCAGCGGTAAGAGTGGAACTGGCTGGCCAGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGGTCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCAAGGGTTGTGGTGGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGAAGGTTGCAGTGAGCCGAAATTGCGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAAAATAAAAGAGTGGAGCTGGCTGAGGCTGAGGCAGCTTTGGGTGGGAGGGGCTGAGCTTTGCGGGGACCTTAGTTTGACAGGGACAGGGATGGACGAATTACGGT | TGCCCTGAAGGGCTGGCCCCTGCCCACGGCCCACGGCTCCAGCCACTTGGCCTTTAGTTTGGTGCCCTCCGTACCCTCAGGGTTCCTCCTCAGGCTGACCCCCTCTGCTGTCTCCATTCCCTATTGGATCAGAGCCCCAGGCACCCCGAGACTGGGGCCCTGACCAGTGAGGCCTGGCTTACCTGGGAGGCAGAGGCCGATGGGTGGAAGGAGCAGGAGCAGGGCGTGCCTGCCTGCCCAGCACTCCAGCTGTCCCCCCGGCCCTCACTGGGGCCTGCTTTGTGGCACCCGGCAGCGCTAAGGCGGGTGGGCAGGAAACCCAAGCTGAGAGGACATCAATTATTTATGGGGCTGCTTGCTGGGAAACCCTAACCCTGGCCCAGTAGGGCCAAGTGACCAGCCAGACCCCCTCCCCCAGCCCTGATGGGCCTGGACAGTCAGACCCTCCTCCCCAGGGCCTCTCTAGCCCAGAGCAGACTCTAAGACCCCAAGGTCCACCTCCTCCCACATCACCCCCCGTGCTCCTCAAAACGGCATTCGAGGCATCTGTGATCTGGCCTCTTCCTCCATTTCACACACCCTCTGCTCTGGCCAGGATGTCACCCATGGGGGGGCCCCAGTAGGCCACTCGCTCATCCTTTCCCACCTCCCAGCCGTTGTCCGCATGCCTCCTGCCACCTGAGATGCCTTCCCTGGTCCTCTCTGCCTAACGAAGGCCTCTGCCCATGTCACACATGAGCTGAGTCTTCTGCGCTCTAGCATTATTCCCCATGTTTTATAGATAGGGAAACTGAGGCTGGGAGGGGAATTTGCTGGATCCCCCAGCTAATAAGTAGCAGATCTGGCATCTGAGGCTCATGGCAGCCACCACGTCCTGGTGCCCCTTGCTTCTGACCAAGGACAGTTCTCTGGACCCATCTGGCTCTGCCCTGGCCAGCCCTGGGGCAGAGGACTGGGATTAGGGCCAGGGCTGCCTGCCTCACTTACCCTAATCCCCCTCAGAGCCCGATCCTAGGCTCTCAGCTCTAAGAGTGGGGGTGCATAAGCAGCTTTATGGGTCCTGAAAGCCAAGGGTGCCCAGGGGTGTGGTGTCTCTGAGCCCTGTTATCCCTCCCCCATGACCACAGAGCAGGCAAGGGGGCAGCAGGGCCCAAATCTGGCCATTGGCCGTCAGAAGCCCCCTGCGGGGGTTGTGACTCCCAAGAGTGATGCAGAGGAGCCCCCGTTGACCAGGAAGAGGAGCAAGAAGGAGAGGGGGCTCCGAGGGTCTCGAAAGCGCACTGGCAGCTCTGGGGAGCAGACAGGCCCCGAGGCCCCGGGGAGCAGCAATAACCCTCCCAGCACTGGAGAGGGGCCGGCGGGCGCACCCCCTGCATCCCCTGGGCCGGCCTCTTCTCGCCAGTCCCACCGACATCGTCCTGACTCCCTGCACGACGCTGCTCAGAGGACATACGGGCCCCTGCTCAATCGAGTCTTCGGGAAGGTTAGGTGGGACCTGGATTGGGCTGGGGGTCCTGGGGGTGGGGCTGGAGACACACCCCTTGGGCTCAGCTCACCCTGCCCCTGAGAGGCCCTCTGCCTCTTCTGCCCCAGACTGAGCCTGGGCTGTGGGGCAGGGTTGCTGCGGTTTGGGGAAGGGTAGGTCTCGGGCCAGCGTGGGCGGTGGGCAGAGCCAGAATTCACACCAGGGCTCTGTGGGAGCTCCAGGCTCTAGGAGCACAAAAGGGAGCTTGCTCCTCCTGGGTCCCACGAGGCTTCAGGGTCCTTTTCCTACTCTGATGGGGCTGGGCCCTGCCCAGGCCAACATGAGCAGGGGATGAAGGAGGAAGGATGACAGAGCCGTGGCTGGCCCTGGGGACATCCTGGACTCTCCCCCTGCAGGACCGCGAACTGGGCCCCGAGGAGCTAGACGGTGAGTGGCTCTTGCTGCTGGCAGGGGGTGGGAGCTGTCCCTGAGCCTGGCCACCTGGGCTTGACCTCCCTCCTCCACAGAGCTTCAGGCCGCCTTCGAGGAGTTTGACACTGACCGTGACGGCTACATCAGCCACCGGGGAGCTGGGTGACTGCATGCGGACCCTGGGCTACATGCCCACCGAGATGGAGCTCCTGGAGGTCTCGCAGCACATCAAGATGCGCAGTCAGTCAGGGAGCCCGCCCGCCCGGGCAGCCTGCGTAGTTCAGGGGGTCACGAGGGGCTGGCAGGAGGTGGCCCTTGGGAGTCCATCGGGGTGCTAGTGGGAGTGAGGGAGGGTGGCGGTTTCCAGGCAGGGGCACCGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTGACACTCTTCCTGGGTCTGCAGTGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAGGAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAGAGGGGGGCAGGGCTGGGTGGCATCCTTGCTGGCCTCTCACTCAGGTCTCAGCCTTGGGAAGGCCTAGAGCCCTGCAGGCGGTGGGACTGGGGCCCAGGGATGGGTCAGAGATGGTTCAGATCACTACCAGCTAGAGGATCCGTCCAGGGGGACTTCCTGGAGCAGGAGGCAAACCACCTTGGTGTGGGAGGGTGTGGAAGGTGTGCATGGGCAGAGATGGTGGGCAGGGGAGCATCTAGGTACAGGCAGCGGTAAGAGTGGAACTGGCTGGCCAGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGGTCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCAAGGGTTGTGGTGGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGAAGGTTGCAGTGAGCCGAAATTGCGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAAAATAAAAGAGTGGAGCTGGCTGAGGCTGAGGCAGCTTTGGGTGGGAGGGGCTGAGCTTTGCGGGGACCTTAGTTTGACAGGGACAGGGATGGACGAATTACGG | pathogenic | 179,223 |
A genetic alteration at chromosome 11, position 67458628, in gene CABP4 (calcium binding protein 4)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Cone-rod_synaptic_disorder,_congenital_nonprogressive'] | CGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTGACACTCTTCCTGGGTCTGCAGTGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAGGAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAGAGGGGGGCAGGGCTGGGTGGCATCCTTGCTGGCCTCTCACTCAGGTCTCAGCCTTGGGAAGGCCTAGAGCCCTGCAGGCGGTGGGACTGGGGCCCAGGGATGGGTCAGAGATGGTTCAGATCACTACCAGCTAGAGGATCCGTCCAGGGGGACTTCCTGGAGCAGGAGGCAAACCACCTTGGTGTGGGAGGGTGTGGAAGGTGTGCATGGGCAGAGATGGTGGGCAGGGGAGCATCTAGGTACAGGCAGCGGTAAGAGTGGAACTGGCTGGCCAGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGGTCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCAAGGGTTGTGGTGGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGAAGGTTGCAGTGAGCCGAAATTGCGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAAAATAAAAGAGTGGAGCTGGCTGAGGCTGAGGCAGCTTTGGGTGGGAGGGGCTGAGCTTTGCGGGGACCTTAGTTTGACAGGGACAGGGATGGACGAATTACGGTGGCGGAGCTGCGGGAGGCGGTACCGGCTCTGCTCGGGGAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGATGGCACCGTAGACTTTGACGGTGAGTCTCCTTCCCGGAAAACCCTCCCGTGCTTCCAGGGCCTAGGCTGAGCCCAGCACCTCCTGGGATCCCTGACGTGGACTGACCCAAGCCCTGCCCTTCTCTCCCGCAGAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAGGCTAAGATATTAATCTGTCTGCACTGACCAGTCATAGAAAGTGGCAAGGATACAGATGTTCAGGGCCCAGAGTGGAAACAGCTGCCCTAAAGAGCCTGGAACTCCAGGGCCTGCCCTTCAAGCAGGCGTGTAGTCTCTCTCCAGGGTGTGAAAAACTGGAAAAAAACCCTGCCGCTCCCAAAGGGGAACTTGTGATAAAAATTACAGATTATTGGGCTGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAATTACCTGAGGTCAGGAGTTTGAGGCCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACTGGGCGAGGTAGCATGCACCTGTAATCTCAGCTACTCGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCGGGAGGTGGAGCTGCAGTGAGCTGAGATCACACCATTGCACCCCAGCCTGAGCAACAGATCGAGACTCCGTCTCAAAAACAAAACAAAAAAACCATACTGATTATAAAAGTAAAGAAACCACCATGAAGGAGACGAGACAGAGACAAAAACAAGAGGACTGGCATCTCAGTGTACATAATACAGCCGCCTAAGAGACCACAAGATACATGCAAATAAAAGACGGCTAAAAGGGGAAGAGAGATCAACATGCAGTAACAGGATAGTATGAAGAGAGAACCGGAAGATTTAAAAAGTAACCCAACAGGCCAGGCGCATGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTTGCTTGAGCTCAGGAATTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCTTGCATCTGTGGTCCCAGGTATTCTACAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCGTGGGTAACAGAGTGAGAATCCGTCAAAAAGAAAAAAACAAACCATGGCTTCTGTTAAAAAAATAAAGTATATTTTATATATACACACACACACACACACACACACACAGCCATTGGAATGAAAAAATAATGGATAAGCTAAACAGCAGATTAAACACAATTTAAAGATTAATGAACTGGAAGCTATATCTAAGAAATCACTTATAATGTAACACTGAGAGACAAAAGGATGGAAAATATT | CGGGTTCAAGCTCCTGCCTCTCTGTGTGGGAAGGCAGGCCAGCAAGGCGGCCCGGAGACCCAGGAGAGCCCCTTGGGGCTCAGGTTGAGGACCCTGGCTCGGGATGTCTGTTGCCATGGCCACTATACACATTTGCTCCTTTCACCCGAGCCCTTCCTGCCTCGCTGGCCCAGAAGCCCCTGACTCAGTGATAAAGTGCTGTCCGCTGATACTAGTCACCTGGCACCTTCTCTCTTTCTCTCTCTTTCTGTGACCCTGCCTCAGCCCTGTGCCCTGGTGGCAGCTGCCTGAATTGGGGTCGCCCTGATGGGAGAGGACCCCACCTATGCCTTGCGACTCAGTGTCTGATGGCAGGAACTGTGTGGTTCCCCTTCGCTGGTTTGTCCTCAGACAAATCTCATATTCACTTCATTCCAGGACTCCTGCATTTTTTCCTTAAAATTCCCAAAATGGGGATGTGATTTACAATTGAGCTGGACATTTGGTGTCATGCTTTTCTGTCCCCAAAGCTGTTGGGTGACCATGAGTGCTTTGAGTGACTGATGGCATCTTAGAACTGAGGCACGGACCACATGGGTGTGTTCGGAGGTGGCATTTATTGCTGCCCACTGGGCTCCAGTACTTCATGGCCATGAACCTGAACCCCATGGAGTAGGCTCCTCACCCTGCTCCTAGGATGAGGAAGGGAGGGCAGTAAGTCAGCCAATGCCACGCACATCAGCAGCAGGGCCAAGATTTGAACCGGGCACTATCTGGCTCCAAAGCCTGGTCTCTTCCTTGCACACTTGGGTTCTCCACTAAGAGCAGAAGCAGCCCTGGTACCCCAGCAGCCAAGGACGGGGGTTCCAGCCTCCTATCTGCTGCAGGCGTGGACACGGGTGTTTCTTCCTAGGTGCAGAGCCTGGGGGTGGGGGTGCCTGGCCTGTGGGATGTCCCTCCTTGGGCTTCAGACCTTATGCCCTCACCATTGTGACACTCTTCCTGGGTCTGCAGTGGGCGGCCGTGTGGACTTTGAGGAGTTTGTAGAACTGATAGGCCCAAAGCTGAGGGAGGAGACGGCGCACATGCTGGGGGTGCGAGAGCTGCGCATCGCCTTCCGAGAGGTGCGGAGTGTGGTGAGGTGGGCAGAGGGGGGCAGGGCTGGGTGGCATCCTTGCTGGCCTCTCACTCAGGTCTCAGCCTTGGGAAGGCCTAGAGCCCTGCAGGCGGTGGGACTGGGGCCCAGGGATGGGTCAGAGATGGTTCAGATCACTACCAGCTAGAGGATCCGTCCAGGGGGACTTCCTGGAGCAGGAGGCAAACCACCTTGGTGTGGGAGGGTGTGGAAGGTGTGCATGGGCAGAGATGGTGGGCAGGGGAGCATCTAGGTACAGGCAGCGGTAAGAGTGGAACTGGCTGGCCAGGCGCGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGGTCAGCCTGGCCAACATGGCAAAACCCCATCTCTATTAAAAATACAAAAATTAGCCAAGGGTTGTGGTGGGCACCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGCGAAGGTTGCAGTGAGCCGAAATTGCGTCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCATCTCAAAAAATAAAATAAAAATAAATAAAATAAAATAAAATAAAAAATAAAAGAGTGGAGCTGGCTGAGGCTGAGGCAGCTTTGGGTGGGAGGGGCTGAGCTTTGCGGGGACCTTAGTTTGACAGGGACAGGGATGGACGAATTACGGTGGCGGAGCTGCGGGAGGCGGTACCGGCTCTGCTCGGGGAGCCGCTGGCGGGTCCTGAGCTGGACGAGATGCTCCGAGAAGTGGACCTCAATGGGGATGGCACCGTAGACTTTGACGGTGAGTCTCCTTCCCGGAAAACCCTCCCGTGCTTCCAGGGCCTAGGCTGAGCCCAGCACCTCCTGGGATCCCTGACGTGGACTGACCCAAGCCCTGCCCTTCTCTCCCGCAGTTTGTGATGATGCTCTCCCGCCACTGAGGCTCCAGGAGGGAATATCTGTTGCCCCTGCGGCCCCAGACACCAGCCAGACCCAGGCTGCAGGCCTCCCCCAGGAGCCTCCAGGATGGAGATGGAGACCCAGCAGCCCCCAGACTACTTCTATCCCTGAAAACACCTGGCCTCAATGTTGGCTTGTTATGTTACCTGCCCACCCTCATCCTTACCTCCTCCTACTCAAGCTGCCTGGAGAAGACCTGCTCTCAGCTGCCCACCGTTCCTCAGTGTGAGCAAGATTTGGGTCTCTCCAGACCTCTGGGAGGTAGGGAGTTCCCTGGCACTGGCAGCATTCAGTGGGGACCCCCCAGTGGCATGATGAATGGAGAGGATGGCTGGACCCCTTCCACTACTTATGTTTATAATTTTTTTTTTTTTTAATGAACTTGAGCCGGGTGCAGTGGCTCACACCTGTAAGCCCAGCTGTCAGGGGGCAGAAGCGGGAGGATAGCTTGAGCCCAGGAGTGCAAGACCTGCCTGGGCAATATACTGAGACCCCATTCTCCACAAAAAGGAAAAATAAAAGACAAAAAAACAAACAAAAAACCAAAAAACCCAAGTGTAAAAAAAGTGAGCTTGAAAGAAAGAAAGGGATGGCTCCATGTATCAAAGACAAAGAAATCAAAGCTGGGGTTGTAAGAGGGAGCTGACGCTGTGGGGGTTTCAGATCTGGATGGAGGCTTGGCCGCCTGGACTCCTACAACCATGAGTGACAGAAGAACCATATGAGTCTGGGGAGCAAGAAACAAACCCCCCGGATATATTCCAGGGTCTCCAAAGGCTAAGATATTAATCTGTCTGCACTGACCAGTCATAGAAAGTGGCAAGGATACAGATGTTCAGGGCCCAGAGTGGAAACAGCTGCCCTAAAGAGCCTGGAACTCCAGGGCCTGCCCTTCAAGCAGGCGTGTAGTCTCTCTCCAGGGTGTGAAAAACTGGAAAAAAACCCTGCCGCTCCCAAAGGGGAACTTGTGATAAAAATTACAGATTATTGGGCTGGGAGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGAATTACCTGAGGTCAGGAGTTTGAGGCCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACTGGGCGAGGTAGCATGCACCTGTAATCTCAGCTACTCGGAGGTTGAGGCAGGAGAATCGCTTGAGCCCGGGAGGTGGAGCTGCAGTGAGCTGAGATCACACCATTGCACCCCAGCCTGAGCAACAGATCGAGACTCCGTCTCAAAAACAAAACAAAAAAACCATACTGATTATAAAAGTAAAGAAACCACCATGAAGGAGACGAGACAGAGACAAAAACAAGAGGACTGGCATCTCAGTGTACATAATACAGCCGCCTAAGAGACCACAAGATACATGCAAATAAAAGACGGCTAAAAGGGGAAGAGAGATCAACATGCAGTAACAGGATAGTATGAAGAGAGAACCGGAAGATTTAAAAAGTAACCCAACAGGCCAGGCGCATGGCTCATGCCTGGAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGGTTGCTTGAGCTCAGGAATTCGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCTTGCATCTGTGGTCCCAGGTATTCTACAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGTCGAGATCGCACCACTGCACTCCAGCGTGGGTAACAGAGTGAGAATCCGTCAAAAAGAAAAAAACAAACCATGGCTTCTGTTAAAAAAATAAAGTATATTTTATATATACACACACACACACACACACACACACAGCCATTGGAATGAAAAAATAATGGATAAGCTAAACAGCAGATTAAACACAATTTAAAGATTAATGAACTGGAAGCTATATCTAAGAAATCACTTATAATGTAACACTGAGAGACAAAAGGATGGAAAATATTNN | pathogenic | 179,237 |
A genetic variant on chromosome 11, position 67487001, affects the gene AIP. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | TCAATTCCTTTTTTGCTCGGAGCCACTCAGTGGCTTCCATCACAGAGTGAAAAACAGAGGCCTCACCATAGCCTACAGGCCCTGTGAGGTCCACCCCTACTGACCTGGGTGAGCTCCCCTGCTGACCCTGTGGTGTACCCCACCCCCTCCTTCACTCTGCTCTGCCACACTGGCATTGCTGCTCTTGAACACATCATGCATTTGAAACGGGAAGTTCCCTTGTCTCCCTCGCAGGGCGTGCGATGGGGGAGTGGCTCGCTTCTTCAGTGCCCCGCTGCTCAGACCTCTGGGGGAGCATACAGATGGGCAGGCTGTGGGCTCCGACCTCATGGCAGTGTCTAGGGGTGAATATTTACAGCTCCGTGTGTTCTAGGGTGCTCTTTTAGTTTGTCTATGGGAGGCTTGTGTTAACCAGCTCAATTAGACCCCCTTCCTTATCACAAGGACAGAGGGCTTTCTGTAGTCTGGGGTTTTCTTGCCTTGATGTACTGGAGTACTGGAGAATTAGATCACTTGTGGGCTTGGAGAATGATTGCAAATTTTTTTTTATTTTTTATTTTATTTTTTTTTTCTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACATGTGCCTGACACCAGGCCCGGCTAATTTTTAAAAATGTTTTTAGTAGAGATGGGCTTTTACCATGTTGGCCAAGCTGGTTTCAAACGCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAAGCTGGAGTGCAGTGGCATGATCTCGGTTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCATCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGAGATGGTCTTCCCCTGGGGTTGGGCCACTTGGTGGCCCCACCTCTCCTCTGACTGCCCCAGCCAAACTCCGCCTCTTCCTGCCAGTTGATGACCTGCCAGCGTGCAGGTGCCTGTCAGTGTGATCTTCTGCTTCTTGCTCCCCTGACATCCTCTCAATGACCAGGAGCTCGTCTTCTGCTGATGGGCTCCTCTGACATCTGGCTGCCTGTGGGTCTACCCCCTAGGGGTGTTGGGTTTTTATAGGCACAGGATAGGGGTGTGGCAGGCCAGGGTGGTCTTGGGAAATGCAACATTTGGGCAGGAAATGCCTGTTCTCACCTAGGTCTGTGGGGGTGGAACCCTACCCAGGGACCACGCCCTCCTCTACCCAGCACTTCCCTTCTCCCCTTCCAAATTATTTAACAGGACCATGCTCCTCCCTTCCCAGCACTTCCATATCACATTGTCCCACTGCAAGGCTTTTTTACACATGCTGTTCTTTTGGCCTAGAAAGTTCCTATCCCAGGGTCCACTTGGCTTGCTTTCTTCCTTACTCCCCAACCCCCCACTCTGTTTAATCCAGCCCCAACCCTCTTGCCCTGCTGTTTCCCAAGCACGTGGCTTCACCTGCCATGACATATTGTTTTGTTTGATGCCCATCTCCTCCCTCTAGAAGCGCCATGTGAGCTCCAGGGGGGCAGGGACTTTTTTGTGTTTTGCTTGCTGCCATGTTCTGGTGTCTAGCACAGAGCTTGGGCACATAGTAGGTGCTTAGTAAATATCTGTTGAGGAATGACTGGAGTCAGACTGCTTGGACTCTTGTTCCCACTCAGCCACCCACTAGCCGTGTGGCTTGGGCCTATTCCTCCCCTCCTTGTGGCTTTGTTTTCTCACCAGCGTGGGAGGATGAAGCCAGGTGTAAGGTCAGGTGGTGTCCCCGGGGAAGCCCCGTCCCTTATGCCGTCTGCAGGCCGGGGACTGGACTTCTCCTTGGGGGTCAGGGTGAGGGTTTGTGCCTTTGCCTGACCTCGCATGTGGCCCACAGGCCACGTTCCACTACCGGACGCTGCACAGTGACGACGAGGGCACCGTGCTGGACGACAGCCGGGCTCGTGGCAAGCCCATGGAGCTCATCATTGGCAAGAAGTTCAAGCTGCCTGTGTGGGAGACCATCGTGTGCACCATGCGAGAAGGGGAGATTGCCCAGTTCCTCTGTGACATCAAGGTGTCTGTCCTGTACCTGTCTGCGGTGGCTGTCCAGCCAAGCCCTATTCCTATTCCCTATCCCCAGGGCTCCTCCTCCCTCCACCCTCTGCTAGACTGCCACCCGCTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCAGCTCACTGCACCCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAACACCCGCCATGATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGTGCCACCGCGCCCGGCCCACCCACTCTTTCCAGACCACCACACCAGCCTGCTGATGGCGTCCTGGCCTCCATTCCGCCTTCCCCTATTAGCCAGACTGAGGCCAGGGGACTCGTTCTCAAATGCAAATGACCTGTACATCCCTTTGTTTCAAACCTCTATGACTCCTGGTCACTGTAAGGATAGAGCACAGGGGGTCCTCACTTCATGTTGCTGATACATTCTTGGAAACTGTGACTAAGAGAAAAAACATACATCAGGTTTTTTCTCAGCCACCGTCATTTCTCTCAGCAAAATTTTGTTAGAACATTGATGAGAAGAAAAATTGGTTTCGTTATGTATTGTTTCGCCTACAGTCACAGTTTCCAAGAACCTACTTAGGACGTTAAGTGAGGACTTAAACCGTATAAGCTATAGCTGCTCACATAGCTTTTTGGGGGCTGGCCCCTGCCGTCTCACCCTCTTACTCAACCTCCCTGCTTTTCCTTTCCATTCCCCTTCTTAGCCAAGATCTTCCCTCTTCCTTCAAAGCTTATTCCTGGGTCACCACCTCTAGGAAGCCCTCCCTGACTGCTAGTGGTTGGCTCAACTCCCATGTTTGGGTCCTCCAACCCTCATGCCCTGCATGGCCAGGATCTGCTCTTCTGCCTTGTCCTAGGCTATTGCAGAGCAGGGATCTGGCCTGTTTACTTCTAGCTTTGGGATGCCCAGCGCGAGCCAGTCCAGAGCCAAGACTCAGGAAATGCCCGCTGATGGCAGCCCGGCAGTCAGCCCCTGTCCAGACAACAGGGCAGTGGGAGGAGTGGGGAGGACCCGGGTAGGAGGAATCTGGTTATCTGGTTCCCACCAGCCTAGCAGCTTTGCCAAGCAAGAGATTAGAGGCTAGGTCCCCTATGCCTGTCTCCCTGTGGGGTTTTTTTTTTTTTGACTAAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCACCATCTCCTGGGTTCAGCTGATTCTCTGCCTTAGCTGCCTGAGTAGCTGGGATTACAGGCACCTGCCATCGTGCCCGGCTCATTTTTGTATTTTAGCAGAGACGCGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCGAAGTGCTAGGATTACAGGCGTGAGCCACCACATCCGGCCTCCCTGAGGGTTTTGAAGTGGCTGGCCTGGGCCCAGCTCTGAGGTAGGCCCTCAGTGGGGTGTGGGTGGGGCAGAAGGAGGAGCTGCTGGGAACAGAATGTGGGGGGCCCCAGTTCTTTGCATAGTCCAGCAAAGGGCCTTATCCTCTGGAGGGAGAGGAGGTAAGAATTCTACTGGGCCTGTAAGGACCAGGGAGACAGGGGTTGATGGTAGGCATGTGTCTGTGGTGGGGGTGAGGAGGGGGTTAGGTGCTCTGTTTGGTGGCCAGAGAATGT | TCAATTCCTTTTTTGCTCGGAGCCACTCAGTGGCTTCCATCACAGAGTGAAAAACAGAGGCCTCACCATAGCCTACAGGCCCTGTGAGGTCCACCCCTACTGACCTGGGTGAGCTCCCCTGCTGACCCTGTGGTGTACCCCACCCCCTCCTTCACTCTGCTCTGCCACACTGGCATTGCTGCTCTTGAACACATCATGCATTTGAAACGGGAAGTTCCCTTGTCTCCCTCGCAGGGCGTGCGATGGGGGAGTGGCTCGCTTCTTCAGTGCCCCGCTGCTCAGACCTCTGGGGGAGCATACAGATGGGCAGGCTGTGGGCTCCGACCTCATGGCAGTGTCTAGGGGTGAATATTTACAGCTCCGTGTGTTCTAGGGTGCTCTTTTAGTTTGTCTATGGGAGGCTTGTGTTAACCAGCTCAATTAGACCCCCTTCCTTATCACAAGGACAGAGGGCTTTCTGTAGTCTGGGGTTTTCTTGCCTTGATGTACTGGAGTACTGGAGAATTAGATCACTTGTGGGCTTGGAGAATGATTGCAAATTTTTTTTTATTTTTTATTTTATTTTTTTTTTCTGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAATGGCACAATCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACATGTGCCTGACACCAGGCCCGGCTAATTTTTAAAAATGTTTTTAGTAGAGATGGGCTTTTACCATGTTGGCCAAGCTGGTTTCAAACGCCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTATTGCCCAAGCTGGAGTGCAGTGGCATGATCTCGGTTCACTGCAACCTCCACCTTCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCATCATGGCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCACATTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGAGATGGTCTTCCCCTGGGGTTGGGCCACTTGGTGGCCCCACCTCTCCTCTGACTGCCCCAGCCAAACTCCGCCTCTTCCTGCCAGTTGATGACCTGCCAGCGTGCAGGTGCCTGTCAGTGTGATCTTCTGCTTCTTGCTCCCCTGACATCCTCTCAATGACCAGGAGCTCGTCTTCTGCTGATGGGCTCCTCTGACATCTGGCTGCCTGTGGGTCTACCCCCTAGGGGTGTTGGGTTTTTATAGGCACAGGATAGGGGTGTGGCAGGCCAGGGTGGTCTTGGGAAATGCAACATTTGGGCAGGAAATGCCTGTTCTCACCTAGGTCTGTGGGGGTGGAACCCTACCCAGGGACCACGCCCTCCTCTACCCAGCACTTCCCTTCTCCCCTTCCAAATTATTTAACAGGACCATGCTCCTCCCTTCCCAGCACTTCCATATCACATTGTCCCACTGCAAGGCTTTTTTACACATGCTGTTCTTTTGGCCTAGAAAGTTCCTATCCCAGGGTCCACTTGGCTTGCTTTCTTCCTTACTCCCCAACCCCCCACTCTGTTTAATCCAGCCCCAACCCTCTTGCCCTGCTGTTTCCCAAGCACGTGGCTTCACCTGCCATGACATATTGTTTTGTTTGATGCCCATCTCCTCCCTCTAGAAGCGCCATGTGAGCTCCAGGGGGGCAGGGACTTTTTTGTGTTTTGCTTGCTGCCATGTTCTGGTGTCTAGCACAGAGCTTGGGCACATAGTAGGTGCTTAGTAAATATCTGTTGAGGAATGACTGGAGTCAGACTGCTTGGACTCTTGTTCCCACTCAGCCACCCACTAGCCGTGTGGCTTGGGCCTATTCCTCCCCTCCTTGTGGCTTTGTTTTCTCACCAGCGTGGGAGGATGAAGCCAGGTGTAAGGTCAGGTGGTGTCCCCGGGGAAGCCCCGTCCCTTATGCCGTCTGCAGGCCGGGGACTGGACTTCTCCTTGGGGGTCAGGGTGAGGGTTTGTGCCTTTGCCTGACCTCGCATGTGGCCCCAGGCCACGTTCCACTACCGGACGCTGCACAGTGACGACGAGGGCACCGTGCTGGACGACAGCCGGGCTCGTGGCAAGCCCATGGAGCTCATCATTGGCAAGAAGTTCAAGCTGCCTGTGTGGGAGACCATCGTGTGCACCATGCGAGAAGGGGAGATTGCCCAGTTCCTCTGTGACATCAAGGTGTCTGTCCTGTACCTGTCTGCGGTGGCTGTCCAGCCAAGCCCTATTCCTATTCCCTATCCCCAGGGCTCCTCCTCCCTCCACCCTCTGCTAGACTGCCACCCGCTTTCTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCAGCTCACTGCACCCTCCACCTCCTGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAACACCCGCCATGATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACACCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGTGCCACCGCGCCCGGCCCACCCACTCTTTCCAGACCACCACACCAGCCTGCTGATGGCGTCCTGGCCTCCATTCCGCCTTCCCCTATTAGCCAGACTGAGGCCAGGGGACTCGTTCTCAAATGCAAATGACCTGTACATCCCTTTGTTTCAAACCTCTATGACTCCTGGTCACTGTAAGGATAGAGCACAGGGGGTCCTCACTTCATGTTGCTGATACATTCTTGGAAACTGTGACTAAGAGAAAAAACATACATCAGGTTTTTTCTCAGCCACCGTCATTTCTCTCAGCAAAATTTTGTTAGAACATTGATGAGAAGAAAAATTGGTTTCGTTATGTATTGTTTCGCCTACAGTCACAGTTTCCAAGAACCTACTTAGGACGTTAAGTGAGGACTTAAACCGTATAAGCTATAGCTGCTCACATAGCTTTTTGGGGGCTGGCCCCTGCCGTCTCACCCTCTTACTCAACCTCCCTGCTTTTCCTTTCCATTCCCCTTCTTAGCCAAGATCTTCCCTCTTCCTTCAAAGCTTATTCCTGGGTCACCACCTCTAGGAAGCCCTCCCTGACTGCTAGTGGTTGGCTCAACTCCCATGTTTGGGTCCTCCAACCCTCATGCCCTGCATGGCCAGGATCTGCTCTTCTGCCTTGTCCTAGGCTATTGCAGAGCAGGGATCTGGCCTGTTTACTTCTAGCTTTGGGATGCCCAGCGCGAGCCAGTCCAGAGCCAAGACTCAGGAAATGCCCGCTGATGGCAGCCCGGCAGTCAGCCCCTGTCCAGACAACAGGGCAGTGGGAGGAGTGGGGAGGACCCGGGTAGGAGGAATCTGGTTATCTGGTTCCCACCAGCCTAGCAGCTTTGCCAAGCAAGAGATTAGAGGCTAGGTCCCCTATGCCTGTCTCCCTGTGGGGTTTTTTTTTTTTTGACTAAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCACCATCTCCTGGGTTCAGCTGATTCTCTGCCTTAGCTGCCTGAGTAGCTGGGATTACAGGCACCTGCCATCGTGCCCGGCTCATTTTTGTATTTTAGCAGAGACGCGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCGAAGTGCTAGGATTACAGGCGTGAGCCACCACATCCGGCCTCCCTGAGGGTTTTGAAGTGGCTGGCCTGGGCCCAGCTCTGAGGTAGGCCCTCAGTGGGGTGTGGGTGGGGCAGAAGGAGGAGCTGCTGGGAACAGAATGTGGGGGGCCCCAGTTCTTTGCATAGTCCAGCAAAGGGCCTTATCCTCTGGAGGGAGAGGAGGTAAGAATTCTACTGGGCCTGTAAGGACCAGGGAGACAGGGGTTGATGGTAGGCATGTGTCTGTGGTGGGGGTGAGGAGGGGGTTAGGTGCTCTGTTTGGTGGCCAGAGAATGTN | benign | 179,263 |
Classify the chromosome 11 variant at position 67490802 affecting gene AIP (AHR interacting HSP90 co-chaperone) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Somatotroph_adenoma'] | GTGAGCCACCACATCCGGCCTCCCTGAGGGTTTTGAAGTGGCTGGCCTGGGCCCAGCTCTGAGGTAGGCCCTCAGTGGGGTGTGGGTGGGGCAGAAGGAGGAGCTGCTGGGAACAGAATGTGGGGGGCCCCAGTTCTTTGCATAGTCCAGCAAAGGGCCTTATCCTCTGGAGGGAGAGGAGGTAAGAATTCTACTGGGCCTGTAAGGACCAGGGAGACAGGGGTTGATGGTAGGCATGTGTCTGTGGTGGGGGTGAGGAGGGGGTTAGGTGCTCTGTTTGGTGGCCAGAGAATGTGGCAGAAGCTGGGGCTTCACCAGGAGAGAGGGCTGAGCGACTGGAGGAGTCCTGAATTAAAAGCCTCCTGTGCTTAAACGGAGTAGGGTCCCAGTTGTCACTCTCTGGGCCTTGGTGTTTGTTCTCAGATGGTGGTGGGGAAGGGGGCTGGGCCTTGTGGACCCGGTGACCAGCCAGCCCACGGTGACAGAGCCCCCGGCGCCCTTGCCTTCCCGCAGCATGTGGTCCTGTACCCGCTGGTGGCCAAGAGTCTCCGCAACATCGCGGTGGGCAAGGACCCCCTGGAGGGCCAGCGGCACTGCTGCGGTGTTGCACAGATGCGTGAACACAGCTCCCTGGGCCATGCTGACCTGGACGCCCTGCAGCAGAACCCCCAGCCCCTCATCTTCCACATGGAGATGCTGAAGGTGAGGGGCCACCGCGCCTGGTCTCACCAGGCCCCCACTGCCCAGCCTCAGGGCGGCGCTGGCCTGTCCACCCAGGGGTGGTGGGATCCGCAGGTGGACTGCTGGGGGAGCGGACAGAGACAAGAAAACCTGTGCAGGACCCTTGGCAGTACCCTGGGTCTCCTTTCCTCCTCCTTCACATCTCAAATGTCACCTCCTCCAGGAAACCGGCCCTGCCCACCCGGTCTCCTCATTCTCTGTCTCGCAGCAGCTCATTTCCTTTATAGCCTCTGCCGCACCTTGAAGTCCCTTGGAATTCATGGATTTCCTTGTCCATTTAGGGAACCTGCCATGCAGCATGATCTCTGCGAGGGCAGGGCTTTTCACCGTCTTGTTCACTGTTCTATTCTTAGCACTTGGCACAGTGCTGGGCACACAGGAGATGTGACATCGATGTTTGATGCTTTTTGAGTGACAAGTAGCTCTGCTGCTGGTGTGTGATGTCTGGGGGCCCAGCCAGCCCAGATGTGGGTCAGGTCTGCTGCTGACGGACGCAGCTGTGGTGTCCCCGAGCCCCGCTGTGATATGCCCCATGCCCTGCAGGTGGAGAGCCCTGGCACGTACCAGCAGGACCCATGGGCCATGACAGACGAAGAGAAGGCAAAGGCAGTGCCACTTATCCACCAGGAGGGCAACCGGTTGTACCGCGAGGGGCATGTGAAGGAGGCTGCTGCCAAGTACTACGATGCCATTGCCTGCCTCAAGAACCTGCAGATGAAGGTACTGCCTGGAGGCTGAGGGGGAGGATGGATGGAGGGGGGTGTGGAGCCAGGGGGCCCAGGTCTACAGCTTCTCCCCGCTCCCTGCCCCCATACTCCCAGGAACAGCCTGGGTCCCCTGAATGGATCCAGCTGGACCAGCAGATCACGCCGCTGCTGCTCAACTACTGCCAGTGCAAGCTGGTGGTCGAGGAGTACTACGAGGTGCTGGACCACTGCTCTTCCATCCTCAACAAGTACGACGGTGAGCACCGGGCCCTGGGCTGCCGGGGGCTGCGAGTGGTCAGAGAGTGGCCTTTCTCCTGTCACTGCTGGGGTCAAGACCTAGCCTTTCACAACCCCCATTCTGAGCTCCCACGGGGGCCTGACTAAATGCCTCTACTCGGCAGGGCTGTGGGCCCCATTGTGCCAATGAAGCATGAATGGTGTATTGGGGGTGGGGTGGCATCCTCAGGTCAGGGAGGGCTCTCTCTCCCCTGTGGGCCCATGGTGCCAGGAGACATGAGGGCAGGCAGCTGGCCAGGATCCCCCCTCATGCCCTTGCATGCCCACTGCCCACTGGCCTCCCCTGCAGACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCACGCGGCCGTGTGGAATGCCCAGGAGGCCCAGGCTGACTTTGCCAAAGTGCTGGAGCTGGACCCAGCCCTGGCGCCTGTGGTGAGCCGAGAGCTGCGGGCCCTGGAGGCACGGATCCGGCAGAAGGACGAAGAGGACAAAGCCCGGTTCCGGGGGATCTTCTCCCATTGACAGGAGCACTTGGCCCTGCCTTACCTGCCAAGCCCACTGCTGCAGCTGCCAGCCCCCCTGCCCGTGCTGCGTCATGCTTCTGTGTATATAAAGGCCTTTATTTATCTCTCTCTGAGTCTGCTGAGCTGCTCCACTGGGAGAGCCGGGTCATCACCTGGCATTCCTGGTACTTGGGTGGCTGTTGGGAGGCAAAGAATCAGGGTTCAAATCCTAGCCCCTCCACCCACCAGCTCTGAGGCTCTGGTGTCCCTGTTAGAGAAATTACGATGAGCTCTTTCACCAAGGAAGTGTCTCTCGCTGGCCAGGGCTGGGGCGCCCCAGGAGCCCACAGTCTTAAGGGGGAGATGAAGTGGGTACAAGCTAGGTAGCTGGGCACCTGAGGGAGGTAGTCTCCTGGTGCTGCCCTCCCACTCCAGCCTCGGATCCCATGGTCTCCTGGCCTCGGTGTCTGGGGGCAGGGTTTCCATGAGAAGCTACGCTGGGGCTGAGGTGAGCCGGGTTGGGCTGGGGTGGGCTGACTGTCCAGAAAGAGGAGAGGGCCGAGCGCTTCGTGAGACCTTTTGAGGCCCAGGCCCCCATCCTGACCTGCCTGTGACATGGATGGCCCTGGGCGTGGGTTTCGTGCGACCTTTTGAGGCCCAGGCCCCCATCCTGACCCTGCCTGTGAGCTGGATGGCCCTGGGTGTGTGTTGGCCTCTCTGTGCACATCAGTGTCCCCTGTTGAACTGGAAACTGGGCTGGCTGCCCTGTGATGCCAGGCATGGGGTGAGTGGGTGGGGTGCAGGTGGCGTTTATTTTCATGGATTTATACACACTGGAAAAGCCTCTGCGCCCATGCCCACGCCCTCCTCCCTCCCCCCGGCGCTGGGTCCCCTCATATGAAAGGGAAGTAACACCGAGGAGCACACGGAGATATAGGGTGTGGGGCTGGGGGGGCCAGCGCTGGGGCCAAAAGTCTGGGTCCCCAGCCTCCCACACGCAGCCCCTCGGGCCCCTTGGGTGTGTCAATAAATAACCCAGGTCCAGGCTGGTGTGGGCCTCACTCCTCGCTGTCCAGCTTCAGGCTGATGCTCCGTGCTTTGCCCCGTGCCAGGGTGGTGGGTGGTGTTCCCGGGCCCTCACGCTCCGCCTGGCTGGGGCCCCTCGAGCGAAGCAGCTGGCTCTGTTTGCGCAGGAAGTCCACGGGGGCAGCCACACCATAGCTGCTCTTGCCCAAGGCAGCTCTCGGGGGTCCCGAGGAGGCATGCGAGTGCGAGCCCGCTTCCAGCTGGCCCAGGTGGGCCACATAGCCGTCTGACAGGAACTGTGGGCAGAGGTAGGCAGCGATGAGGGGGTGCTGGCCAAGGGCCCACACGCTGCCCTCCACGGTCCTCCAGAGGCACCTGAGGCAGGCTGGGGGACTGGTGGCAGGCTTGGCACAGCCTGAGCTGAAGCCTTCTCAATAGATAGGACCCCAGGCTGGGAGCCAGGGCACCTTGGCTGTGCTCCTAGCTCTGCCCTTCTCTGGGCCTCAGTCTCCTCATCTGGAAAATGGGGTCTTAGAGGAAAAATAACAGCAGCCAATGTTTAGCCAGCACTTGCTTTGTGCCCAGCCCTGTGCCTGTTGATGTGATCTTCATAAGCTGACATGGGCAGTGCCATGATCATTTCCATTTACAGATGGGAAGCTGAGGCTCAGAAAGGTCACAGTGGAAAGCCATGGCCGAGTGGAACCAGCGCCTAGGGTCTTGAGCACTTTCCAGTGTGGGCTGTCCCCTCTGGCTTGCCTGGCAGCTGGCAGCTCAAGCTGCTCATGGCCCTTGTCCTCGGAGGATCCCAGGTTCCCTGGAGGCCGGTTAGGCCTTCTCACATCTTCC | GTGAGCCACCACATCCGGCCTCCCTGAGGGTTTTGAAGTGGCTGGCCTGGGCCCAGCTCTGAGGTAGGCCCTCAGTGGGGTGTGGGTGGGGCAGAAGGAGGAGCTGCTGGGAACAGAATGTGGGGGGCCCCAGTTCTTTGCATAGTCCAGCAAAGGGCCTTATCCTCTGGAGGGAGAGGAGGTAAGAATTCTACTGGGCCTGTAAGGACCAGGGAGACAGGGGTTGATGGTAGGCATGTGTCTGTGGTGGGGGTGAGGAGGGGGTTAGGTGCTCTGTTTGGTGGCCAGAGAATGTGGCAGAAGCTGGGGCTTCACCAGGAGAGAGGGCTGAGCGACTGGAGGAGTCCTGAATTAAAAGCCTCCTGTGCTTAAACGGAGTAGGGTCCCAGTTGTCACTCTCTGGGCCTTGGTGTTTGTTCTCAGATGGTGGTGGGGAAGGGGGCTGGGCCTTGTGGACCCGGTGACCAGCCAGCCCACGGTGACAGAGCCCCCGGCGCCCTTGCCTTCCCGCAGCATGTGGTCCTGTACCCGCTGGTGGCCAAGAGTCTCCGCAACATCGCGGTGGGCAAGGACCCCCTGGAGGGCCAGCGGCACTGCTGCGGTGTTGCACAGATGCGTGAACACAGCTCCCTGGGCCATGCTGACCTGGACGCCCTGCAGCAGAACCCCCAGCCCCTCATCTTCCACATGGAGATGCTGAAGGTGAGGGGCCACCGCGCCTGGTCTCACCAGGCCCCCACTGCCCAGCCTCAGGGCGGCGCTGGCCTGTCCACCCAGGGGTGGTGGGATCCGCAGGTGGACTGCTGGGGGAGCGGACAGAGACAAGAAAACCTGTGCAGGACCCTTGGCAGTACCCTGGGTCTCCTTTCCTCCTCCTTCACATCTCAAATGTCACCTCCTCCAGGAAACCGGCCCTGCCCACCCGGTCTCCTCATTCTCTGTCTCGCAGCAGCTCATTTCCTTTATAGCCTCTGCCGCACCTTGAAGTCCCTTGGAATTCATGGATTTCCTTGTCCATTTAGGGAACCTGCCATGCAGCATGATCTCTGCGAGGGCAGGGCTTTTCACCGTCTTGTTCACTGTTCTATTCTTAGCACTTGGCACAGTGCTGGGCACACAGGAGATGTGACATCGATGTTTGATGCTTTTTGAGTGACAAGTAGCTCTGCTGCTGGTGTGTGATGTCTGGGGGCCCAGCCAGCCCAGATGTGGGTCAGGTCTGCTGCTGACGGACGCAGCTGTGGTGTCCCCGAGCCCCGCTGTGATATGCCCCATGCCCTGCAGGTGGAGAGCCCTGGCACGTACCAGCAGGACCCATGGGCCATGACAGACGAAGAGAAGGCAAAGGCAGTGCCACTTATCCACCAGGAGGGCAACCGGTTGTACCGCGAGGGGCATGTGAAGGAGGCTGCTGCCAAGTACTACGATGCCATTGCCTGCCTCAAGAACCTGCAGATGAAGGTACTGCCTGGAGGCTGAGGGGGAGGATGGATGGAGGGGGGTGTGGAGCCAGGGGGCCCAGGTCTACAGCTTCTCCCCGCTCCCTGCCCCCATACTCCCAGGAACAGCCTGGGTCCCCTGAATGGATCCAGCTGGACCAGCAGATCACGCCGCTGCTGCTCAACTACTGCCAGTGCAAGCTGGTGGTCGAGGAGTACTACGAGGTGCTGGACCACTGCTCTTCCATCCTCAACAAGTACGACGGTGAGCACCGGGCCCTGGGCTGCCGGGGGCTGCGAGTGGTCAGAGAGTGGCCTTTCTCCTGTCACTGCTGGGGTCAAGACCTAGCCTTTCACAACCCCCATTCTGAGCTCCCACGGGGGCCTGACTAAATGCCTCTACTCGGCAGGGCTGTGGGCCCCATTGTGCCAATGAAGCATGAATGGTGTATTGGGGGTGGGGTGGCATCCTCAGGTCAGGGAGGGCTCTCTCTCCCCTGTGGGCCCATGGTGCCAGGAGACATGAGGGCAGGCAGCTGGCCAGGATCCCCCCTCATGCCCTTGCATGCCCACTGCCCACTGGCCTCCCCTGCAGACAACGTCAAGGCCTACTTCAAGCGGGGCAAGGCCCACTTCAAGCGGGGCAAGGCCCACGCGGCCGTGTGGAATGCCCAGGAGGCCCAGGCTGACTTTGCCAAAGTGCTGGAGCTGGACCCAGCCCTGGCGCCTGTGGTGAGCCGAGAGCTGCGGGCCCTGGAGGCACGGATCCGGCAGAAGGACGAAGAGGACAAAGCCCGGTTCCGGGGGATCTTCTCCCATTGACAGGAGCACTTGGCCCTGCCTTACCTGCCAAGCCCACTGCTGCAGCTGCCAGCCCCCCTGCCCGTGCTGCGTCATGCTTCTGTGTATATAAAGGCCTTTATTTATCTCTCTCTGAGTCTGCTGAGCTGCTCCACTGGGAGAGCCGGGTCATCACCTGGCATTCCTGGTACTTGGGTGGCTGTTGGGAGGCAAAGAATCAGGGTTCAAATCCTAGCCCCTCCACCCACCAGCTCTGAGGCTCTGGTGTCCCTGTTAGAGAAATTACGATGAGCTCTTTCACCAAGGAAGTGTCTCTCGCTGGCCAGGGCTGGGGCGCCCCAGGAGCCCACAGTCTTAAGGGGGAGATGAAGTGGGTACAAGCTAGGTAGCTGGGCACCTGAGGGAGGTAGTCTCCTGGTGCTGCCCTCCCACTCCAGCCTCGGATCCCATGGTCTCCTGGCCTCGGTGTCTGGGGGCAGGGTTTCCATGAGAAGCTACGCTGGGGCTGAGGTGAGCCGGGTTGGGCTGGGGTGGGCTGACTGTCCAGAAAGAGGAGAGGGCCGAGCGCTTCGTGAGACCTTTTGAGGCCCAGGCCCCCATCCTGACCTGCCTGTGACATGGATGGCCCTGGGCGTGGGTTTCGTGCGACCTTTTGAGGCCCAGGCCCCCATCCTGACCCTGCCTGTGAGCTGGATGGCCCTGGGTGTGTGTTGGCCTCTCTGTGCACATCAGTGTCCCCTGTTGAACTGGAAACTGGGCTGGCTGCCCTGTGATGCCAGGCATGGGGTGAGTGGGTGGGGTGCAGGTGGCGTTTATTTTCATGGATTTATACACACTGGAAAAGCCTCTGCGCCCATGCCCACGCCCTCCTCCCTCCCCCCGGCGCTGGGTCCCCTCATATGAAAGGGAAGTAACACCGAGGAGCACACGGAGATATAGGGTGTGGGGCTGGGGGGGCCAGCGCTGGGGCCAAAAGTCTGGGTCCCCAGCCTCCCACACGCAGCCCCTCGGGCCCCTTGGGTGTGTCAATAAATAACCCAGGTCCAGGCTGGTGTGGGCCTCACTCCTCGCTGTCCAGCTTCAGGCTGATGCTCCGTGCTTTGCCCCGTGCCAGGGTGGTGGGTGGTGTTCCCGGGCCCTCACGCTCCGCCTGGCTGGGGCCCCTCGAGCGAAGCAGCTGGCTCTGTTTGCGCAGGAAGTCCACGGGGGCAGCCACACCATAGCTGCTCTTGCCCAAGGCAGCTCTCGGGGGTCCCGAGGAGGCATGCGAGTGCGAGCCCGCTTCCAGCTGGCCCAGGTGGGCCACATAGCCGTCTGACAGGAACTGTGGGCAGAGGTAGGCAGCGATGAGGGGGTGCTGGCCAAGGGCCCACACGCTGCCCTCCACGGTCCTCCAGAGGCACCTGAGGCAGGCTGGGGGACTGGTGGCAGGCTTGGCACAGCCTGAGCTGAAGCCTTCTCAATAGATAGGACCCCAGGCTGGGAGCCAGGGCACCTTGGCTGTGCTCCTAGCTCTGCCCTTCTCTGGGCCTCAGTCTCCTCATCTGGAAAATGGGGTCTTAGAGGAAAAATAACAGCAGCCAATGTTTAGCCAGCACTTGCTTTGTGCCCAGCCCTGTGCCTGTTGATGTGATCTTCATAAGCTGACATGGGCAGTGCCATGATCATTTCCATTTACAGATGGGAAGCTGAGGCTCAGAAAGGTCACAGTGGAAAGCCATGGCCGAGTGGAACCAGCGCCTAGGGTCTTGAGCACTTTCCAGTGTGGGCTGTCCCCTCTGGCTTGCCTGGCAGCTGGCAGCTCAAGCTGCTCATGGCCCTTGTCCTCGGAGGATCCCAGGTTCCCTGGAGGCCGG | pathogenic | 179,370 |
Clinically, how would you classify the variant at chromosome 11, position 67607054, gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic | GGTGGGGACCAGTGGGGGATTTGTTGTTAGGAGACCTCAGGCCGAGTTCTGGCAGTTGTGTCATCCTGGGCAGGCCACTCAGCAATGCTGATACCCTGCTTCTGAAAACAGGGCTCATCATTCCTGAGGCTGGAGTTTTGGAGGATTAAGGAGGTAACACATGGCAAGTGCTTGGCCCAGAGCCTGGCACTGAATGAACAGAGGATCCTTCCCTCACTCTCCGTTTTCCATCCCCCCTCATGCCCAGCATCTCCTGTCCCCAGCATCCCCAACCTGCATCTCCCTCAGCCTGTATTCCTTTGACCCAGTTAGAGACAGATGAGGAAGGAATCCACCCGCTGGGCTGGCTCTGACCTGCCCCCCTTCTTCTGCCCCAAAGGGAGGGATCCGAGGACTCAGGTCTGAGCCCGGATTAGCTGTGTAATCCCCAGCTTTGCCTAGGCAACCTCTTTCCCTGACCAAGAGAGGGGGCCTGCGGCTGGCAGCCAGGACTCCTGGGCTCTGGGCCTGATACTACTCTATCTGTCTGGGAAACCTCAGACAGGGAAGAGATTTCTTGGTGCCTCTCTTGGGAATGTCACTGACGTCCACAGTGACTGTCACATGCGTGTCAGTTGTTCTGTGGGTTTGCTGTGTGCGGGGCACTGTGGAAAGGAAGAAAGGCCTAGATTCCAGTCCAGCTCCACCACTCAGCAGCTTCATGCCCACAGACAAAGGACAAAATCCCCCTGAGCCTCAGTTTTTTCGTGGACAAAATGGAGTGAACACCTTGTGGGGCTGCTGTGGGGTATGTGAGAAAATAGCTGCAAAGGAGTTTTGTAAACAGCACGTTTTAGAGAGATCAGGAAGGATGATTACAGCACAAAAGAACAGAGATGGTTCCTCACCATGAGGACTGGAAAAGAGCTGGGGAGAGCAGGCCAAAAAGGTCACTCTTATCACGAGGACCACAGCAGAGGGTTCCAGGAAACTGAAAAAGACGAGTTCATCAGGCTTCCAAGACCTCCTGGGAAGGCAAAGGACAGAGGGACCTCCTCAGGTCAGGGGAAAACCGAGGGAGGGGGACAGCCACACAAACGCCCTAAAGTCTAATGACGGCAGAAAGGGGTCTTGGGGGACGGGGGTGGGGTTCACAGCAGTGGCCTGGGCGTGATGACCCTGGCGAAGGACGGGGTCGCAGAGCCCTTAAATCCTGGACCAGTGGCTGATTCCAAAAGCAGCAGGGACCATGCCAGGATTTTGGGCAGAAGCAGAAAGTGCTGGACTCTCCTGACAAGAGCTGAGAGAACTCAGCGGCGCCAGCAAGAGTTTGTGCCGTGCACTGACCATCTGCATCCTCTCTGCCTCACCCCAGCCTAGGATTCCGTGACAGGCCCTCTGGGAAGAACTCCGCGAACAACCCCCTGCCTTGGAGTCTGCAATCCTTCCTCGAGCACACGGACGCCCGGGGTGGGGAAGCCCACAGTCTGGCAGGGCTCGCACTGGGCAGAATAATTGCAACGTAGTCATGAGGATCGGGCTATGACCTGCCTGACTTTTCACTCCTCCCATGATACACCGATGCATACCGCAGGTGCACACTAAACGCCGAATCTATAGAAAGTGGAACACACCAGGACCCAGCAGAAGGCGACATGCGAGGTTTGTTTACTTGTGGCATCAAAGGCTGGGAGCCGGCGAGCTAAGGAGGGAGCGAAAGAGCGAGCGGTGGGGACAGCCACCGCTAAATGCCAGCCCGGTGGAGGGAGGAAGGCGGACCCCAGGCCGGTGGGACCACATCTCCCAGAAGCCCCGGCGCCAAGGCACTGGCCTCTCAGTCCTCCCCCGAGGAGGCGGGGCCGCTGGCGAAGTTGAAGGGGCGCAGCGATACCGGTGCGCGGCGCTGGCGTCGGGCGCGTGACGTCTTTCCTGCGCGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCAGTGCTATGAAGGTGACAGCGTGAGGTGACCCATCTGGCCCGCCGCGATGCTGGCAACACGGCGGCTGCTCGGCTGGTCGCTTCCCGCGCGGGTATCTGTGCGTTTCAGCGGCGACACGGTGAGGCCCAGCCTGGCTGGGGCCACGGGTGTTTGGGGCCGGGTGTCGCGGCCGCGCCCGTGCACGAGCAGTCCCTGGGGTCTGTAGTGGCCTCTGGAGAGCCCTTCTCCCCAGGCCAGGCGGGAAGGCCCCCGCTCCGGCCTGGTTGAAGTAGGGGAACGGGTCCCAACGCGGGGCCGACTCCCTTGACCCTCTGACTTGCTGGCTTCCCTTGTTTTACAGTCCTCGGCCTGGCGGAAGTTTTGCAGGTTGTGAAGACCCCTAGTCTTTCATTCTCTCCTTGTCACAGCCTTGTAGGGCGTGAAGGGGTCATTGCCCCATTTAGGGATGCGCACCTCCTGATTTCCCGTCCACTGCTCTGCGCCCTGAAGTGGCTGAAAAGTGCTCTTAAAAGGATGGGAATCCCGTCGCCCTCAGCTGGTGCGCTCTCCACTGGGTCGTGGGGCTCCTCATTTCATCCTAAGTGAGCCCCTCCATCACCTGTGTGTTAAGGAGGCATTTCTTTCCCATCAGTAAACACATTTCGCCTCTTCGGCCGAGGTAGGAATATAAAAGGCCCCTGGCCTACCCAAGTTTTGGTCCAGCAGGGGAGCCAGGCCGGGAAAGGGCCAAGCTGCCACACTCGGCTTGTGGGGCTGTGTGGTGCCGTGATGCAGCTGTGGGTTTGGCCACCGACAGACCTGGGCTCAAATTGGACCTGCTGCTTTTGACTGTGAGACCTTCCATAAGCTCCTTTTGCTCCAAGCCTCAGTTTTCTCCTCTGTGAAACAGAGAAAATCGTTCCTATCAGAGTTCTTATGAGGATGAAATGGGATTTTGGATGTAAAATGCTTCCATCCAGTACCTGCTAAACAAAATGCTTACTAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAGTGCAAAAATTACCCGGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTATCCAGAGGCTGAGGCACAAGAATTATTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTAGGCAAAAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAATGCTTACTAAGTGGCAGTGGTATCTATGATGCTATAGATGCTTCCCTAGCCCTAGCCCAGCCCCTCCTAAATAGGGAGACCCAAGATTCTGTAGCTTCTGGCCCAATCCCTCATGGCCCCAGAGCACTCTGGGCCTCCTGACCCTTTGTCTCCCTAGACAGCACCCAAGAAAACCTCATTTGGCTCGCTGAAGGATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGC | GGTGGGGACCAGTGGGGGATTTGTTGTTAGGAGACCTCAGGCCGAGTTCTGGCAGTTGTGTCATCCTGGGCAGGCCACTCAGCAATGCTGATACCCTGCTTCTGAAAACAGGGCTCATCATTCCTGAGGCTGGAGTTTTGGAGGATTAAGGAGGTAACACATGGCAAGTGCTTGGCCCAGAGCCTGGCACTGAATGAACAGAGGATCCTTCCCTCACTCTCCGTTTTCCATCCCCCCTCATGCCCAGCATCTCCTGTCCCCAGCATCCCCAACCTGCATCTCCCTCAGCCTGTATTCCTTTGACCCAGTTAGAGACAGATGAGGAAGGAATCCACCCGCTGGGCTGGCTCTGACCTGCCCCCCTTCTTCTGCCCCAAAGGGAGGGATCCGAGGACTCAGGTCTGAGCCCGGATTAGCTGTGTAATCCCCAGCTTTGCCTAGGCAACCTCTTTCCCTGACCAAGAGAGGGGGCCTGCGGCTGGCAGCCAGGACTCCTGGGCTCTGGGCCTGATACTACTCTATCTGTCTGGGAAACCTCAGACAGGGAAGAGATTTCTTGGTGCCTCTCTTGGGAATGTCACTGACGTCCACAGTGACTGTCACATGCGTGTCAGTTGTTCTGTGGGTTTGCTGTGTGCGGGGCACTGTGGAAAGGAAGAAAGGCCTAGATTCCAGTCCAGCTCCACCACTCAGCAGCTTCATGCCCACAGACAAAGGACAAAATCCCCCTGAGCCTCAGTTTTTTCGTGGACAAAATGGAGTGAACACCTTGTGGGGCTGCTGTGGGGTATGTGAGAAAATAGCTGCAAAGGAGTTTTGTAAACAGCACGTTTTAGAGAGATCAGGAAGGATGATTACAGCACAAAAGAACAGAGATGGTTCCTCACCATGAGGACTGGAAAAGAGCTGGGGAGAGCAGGCCAAAAAGGTCACTCTTATCACGAGGACCACAGCAGAGGGTTCCAGGAAACTGAAAAAGACGAGTTCATCAGGCTTCCAAGACCTCCTGGGAAGGCAAAGGACAGAGGGACCTCCTCAGGTCAGGGGAAAACCGAGGGAGGGGGACAGCCACACAAACGCCCTAAAGTCTAATGACGGCAGAAAGGGGTCTTGGGGGACGGGGGTGGGGTTCACAGCAGTGGCCTGGGCGTGATGACCCTGGCGAAGGACGGGGTCGCAGAGCCCTTAAATCCTGGACCAGTGGCTGATTCCAAAAGCAGCAGGGACCATGCCAGGATTTTGGGCAGAAGCAGAAAGTGCTGGACTCTCCTGACAAGAGCTGAGAGAACTCAGCGGCGCCAGCAAGAGTTTGTGCCGTGCACTGACCATCTGCATCCTCTCTGCCTCACCCCAGCCTAGGATTCCGTGACAGGCCCTCTGGGAAGAACTCCGCGAACAACCCCCTGCCTTGGAGTCTGCAATCCTTCCTCGAGCACACGGACGCCCGGGGTGGGGAAGCCCACAGTCTGGCAGGGCTCGCACTGGGCAGAATAATTGCAACGTAGTCATGAGGATCGGGCTATGACCTGCCTGACTTTTCACTCCTCCCATGATACACCGATGCATACCGCAGGTGCACACTAAACGCCGAATCTATAGAAAGTGGAACACACCAGGACCCAGCAGAAGGCGACATGCGAGGTTTGTTTACTTGTGGCATCAAAGGCTGGGAGCCGGCGAGCTAAGGAGGGAGCGAAAGAGCGAGCGGTGGGGACAGCCACCGCTAAATGCCAGCCCGGTGGAGGGAGGAAGGCGGACCCCAGGCCGGTGGGACCACATCTCCCAGAAGCCCCGGCGCCAAGGCACTGGCCTCTCAGTCCTCCCCCGAGGAGGCGGGGCCGCTGGCGAAGTTGAAGGGGCGCAGCGATACCGGTGCGCGGCGCTGGCGTCGGGCGCGTGACGTCTTTCCTGCGCGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCAGTGCTATGAAGGTGACAGCGTGAGGTGACCCATCTGGCCCGCCGCGATGCTGGCAACACGGCGGCTGCTCGGCTGGTCGCTTCCCGCGCGGGTATCTGCGTTTCAGCGGCGACACGGTGAGGCCCAGCCTGGCTGGGGCCACGGGTGTTTGGGGCCGGGTGTCGCGGCCGCGCCCGTGCACGAGCAGTCCCTGGGGTCTGTAGTGGCCTCTGGAGAGCCCTTCTCCCCAGGCCAGGCGGGAAGGCCCCCGCTCCGGCCTGGTTGAAGTAGGGGAACGGGTCCCAACGCGGGGCCGACTCCCTTGACCCTCTGACTTGCTGGCTTCCCTTGTTTTACAGTCCTCGGCCTGGCGGAAGTTTTGCAGGTTGTGAAGACCCCTAGTCTTTCATTCTCTCCTTGTCACAGCCTTGTAGGGCGTGAAGGGGTCATTGCCCCATTTAGGGATGCGCACCTCCTGATTTCCCGTCCACTGCTCTGCGCCCTGAAGTGGCTGAAAAGTGCTCTTAAAAGGATGGGAATCCCGTCGCCCTCAGCTGGTGCGCTCTCCACTGGGTCGTGGGGCTCCTCATTTCATCCTAAGTGAGCCCCTCCATCACCTGTGTGTTAAGGAGGCATTTCTTTCCCATCAGTAAACACATTTCGCCTCTTCGGCCGAGGTAGGAATATAAAAGGCCCCTGGCCTACCCAAGTTTTGGTCCAGCAGGGGAGCCAGGCCGGGAAAGGGCCAAGCTGCCACACTCGGCTTGTGGGGCTGTGTGGTGCCGTGATGCAGCTGTGGGTTTGGCCACCGACAGACCTGGGCTCAAATTGGACCTGCTGCTTTTGACTGTGAGACCTTCCATAAGCTCCTTTTGCTCCAAGCCTCAGTTTTCTCCTCTGTGAAACAGAGAAAATCGTTCCTATCAGAGTTCTTATGAGGATGAAATGGGATTTTGGATGTAAAATGCTTCCATCCAGTACCTGCTAAACAAAATGCTTACTAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCGCTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAGTGCAAAAATTACCCGGGCGTGGTGGTGAGTGCCTGTAATCCCAGCTATCCAGAGGCTGAGGCACAAGAATTATTTGAACCTGGGAGGTGGAGTTTGCAGTGAGCTGAGATTACGCCACTGCACTCCAGCCTAGGCAAAAGAGCAAGAGTCTGTCTCAAAAAAAAAAAAATGCTTACTAAGTGGCAGTGGTATCTATGATGCTATAGATGCTTCCCTAGCCCTAGCCCAGCCCCTCCTAAATAGGGAGACCCAAGATTCTGTAGCTTCTGGCCCAATCCCTCATGGCCCCAGAGCACTCTGGGCCTCCTGACCCTTTGTCTCCCTAGACAGCACCCAAGAAAACCTCATTTGGCTCGCTGAAGGATGAAGACCGGATTTTCACCAACCTGTACGGCCGCCATGACTGGAGGTGAGACAGTGCCCTTAGTGTGTTGGGTCCCGGAGCAAGGTGTCCCCTTCATTGCCTTCCCTATTCTGTCCAGGCTGAAAGGTTCCCTGAGTCGAGGTGACTGGTACAAGACAAAGGAGATCCTGCTGAAGGGGCCCGACTGGATCCTGGGCGAGATCAAGACATCGGGTTTGAGGGGCCGTGGAGGCGCTGGCTTCCCCACTGGCCTCAAGTGGAGCTTCATGAATAAGCCCTCAGATGGCAGGTGTGTGTGTGGGGGCGGGGCAGATGTGGCTGTGGGAGAGACCTTGGGGGTGGCTGGGGTTTCCCTGGGCCTTTGGGCTCTTTCCTTAGAAACTTAGCATGAATGAGGTGGGCACATGTTCCCAGGCCTTAAATGGATGGGACTTACTCTGTGGACTTCCACAGGGGAGACTTATGTAGCAGAATCAACACATGATTTTGACTCAGGCAGACTTAGTTCAAATCCTAGCTCTGCCTCCTAATCATAGAGGTTTGGGCAATTTCCCAGCCTTTGTGAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCNN | pathogenic | 179,436 |
Chromosome 11, position 67611045, gene NDUFV1 (NADH:ubiquinone oxidoreductase core subunit V1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Leigh_syndrome'] | GAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGC | GAACCTTAGCTTCCTTTTTGTAAATAGGTACAGTGATATCATGCAAGGATTAAAGAGATAATGTTCATACAGCTTTTGGCCTGTATGCTGGTTGGCACATAAAGCAAATGATAAATGTCACCTGCTTTACCTCCTTTTGATGGTAGAGCTTGAGGAATGCTCTTTGTCACCAAGAGTAGAATCTGGCTCTCAGGGGCAGACACAAGGAGAGATGTTTGGATGAGCTGAATGAAGACCTTTCTTGTGGTCATAGCCACCCAAAGACAGAATAGGCAGTGAGCTCCCTGTCATTGGTGGTGAGCAAGCAGAGCCCCTGGGACATGTTGGGAGGGCAGTAAAGGATTGGCTGTCAGAGGAGACATCTTTGAGGCCTCCCTGGGTGGAGTGGGGTGGCATGGAGTTGAAGACCCAGTCCTGATGGCCCTGTAGCCTGTCTGACCTGTGGGCCCCTGCAGGCCCAAGTATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGGGAGATCTTACGCCATGATCCTCACAAGCTGCTGGAAGGCTGCCTGGTGGGGGGCCGGGCCATGGGCGCCCGCGCTGCCTATATCTACATCCGAGGGGAATTCTACAATGAGGCCTCCAATCTGCAGGTGGGTAGGGAGAGATGTAGACAGATGAGAAGGTGTTCAGTGTGCACTCACACACCCCTCACCCAGCACAGTTGTTCTGAGGTGTTAGTACCTGGTCTGTCAGTGGTTGAACTGGGGGAGTGGTGGCCAGTCCTGCATGCATCCCAAATGGGACTTGGCTCCCAAAGCCTCCTTCCAGGGCTCCTAATGCTGCTGGTGTAAATTTTTTTTTTTTGCTTCAAAAATATAGTATTTTTTATAAAACAAGTAGCAAGAAGAAAAAACCTAAGTGGAACTATGTGTTTAGCAAGAGAGCGGAATAATTATGAATATAAACAATTCCTATTTGGAGAAAATACATTATGTTCATTGCTTGGAACTATGAATAATACTTATATCTGTAGGAAATATAGAAAAATAAAATAGGTTAAGGCAATAAGGATATAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCNNNN | pathogenic | 179,471 |
Does the variant impacting NDUFV1 on chromosome 11, position 67612107, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCACCCCCTATTTCCCTGGGGACCAGATGCTGAGTGTCGTTTGTCACACTCTGGGCCCTGGTGCTTCTGAACAGGCTCAGGGAGGAAGCCCGGGGAGGATGCACTGCTCTCACCCGCAGGGTAGGTTTCCATTTGCGGAAAGCCCCACCACCTTGCTCACAG | TAGGCAATTACATTTTTATTTTAATTTTATAAGGACTTTTATTTTTCCTTTACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCACCCCCTATTTCCCTGGGGACCAGATGCTGAGTGTCGTTTGTCACACTCTGGGCCCTGGTGCTTCTGAACAGGCTCAGGGAGGAAGCCCGGGGAGGATGCACTGCTCTCACCCGCAGGGTAGGTTTCCATTTGCGGAAAGCCCCACCACCTTGCTCACAGN | benign | 179,484 |
Is the genetic variant on chromosome 11, position 67612158, gene NDUFV1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Leigh_syndrome'] | ACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCACCCCCTATTTCCCTGGGGACCAGATGCTGAGTGTCGTTTGTCACACTCTGGGCCCTGGTGCTTCTGAACAGGCTCAGGGAGGAAGCCCGGGGAGGATGCACTGCTCTCACCCGCAGGGTAGGTTTCCATTTGCGGAAAGCCCCACCACCTTGCTCACAGGCGGTTCTCAGGAATGCGGAAGTGCTCTGTGGGCACCCACCATGCTCCGGG | ACAGACTAGGGTAGTTAGGAGACCTGATAGTAGCTACTTCGTTTTTATTTTCCTGGCAGCAAAGCAGCTTACTTATGTGTTCCTTCTTGCTTATCTGTTCCAGATCATAGTCAAGTTTTCCAATTCGTTTTACTAAGCTAGCAAAATTTTTTATACCAGGAGCATTAGGAGCTTCACCGTGGGAGGCCTTCAAGGGCTTCATGACTCCTGAAGTTATAGGCTGACTCCTGGGCTGGGGGTGGGCTGGGAAACTCACACCTTTGTCCTGCAGGTGGCCATCCGAGAGGCCTATGAGGCAGGTCTGATTGGCAAGAATGCTTGTGGCTCTGGCTATGATTTTGACGTGTTTGTGGTGCGCGGGGCTGGGGCCTACATCTGTGGAGAGGAGACAGCGCTCATCGAGTCCATTGAGGGCAAGCAGGGCAAGCCCCGCCTGAAGCCCCCCTTCCCCGCAGACGTGGGTAAGGCCTGGCGTAACCCTGGGTCAGACTGTGTCCTGTGACACCCGGGATCTGGCTAGGCTCCCTTTGGATTGTTCTTAGGGATTTCTGAGTGGCTTCCCGGCTGGGGCCAGATAGAGAGTAGGCTGGCAACAACACACAGGCTCCCCCAGGGCCGCCTGCTGTCCCTCCTCCTGCCTCGGTCCCCTCCGCACCAGTGCTGCTCTGTGGCTCCACCTTCACAGTGCCTGTTCTGAGGCTAAGGGCATGGGGTGAACAAGGCAATGGGCATCTCTGGAGTTTGGGGTCCAGCAGGGATAAGAATGATAAGGGGATATTAGAGCAGGGGCTCTGCCATGGGTGCAGGACCCTGGGACACACCTCCCTGCCAGGAAACTTGCCCCACCCCCTAGCAGCCACCAGTTCTCTTCCCATTTCCCTGAAGGAGTGTTTGGCTGCCCCACAACTGTGGCCAACGTGGAGACAGTGGCAGTGTCCCCCACAATCTGCCGCCGTGGAGGTACCTGGTTTGCTGGCTTTGGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTCTGGCCATGTCAACCACCCTTGCACTGTGGAGGAGGAGATGTCTGTGCCCTTGAAAGAACTGATTGAGAAGCATGCTGGTAAGGCCTGGGGCCAGCCAGGTGGTGGGGGGGTGCGCAGTGGGGGCAGGTGTCCACAAAGAGAGCCTGGGCGGGAGGGCTCAGGAGACGGGGCTGGGTCTAGGGGCTGACTAAGGGCCTGGGCTCAGGACTAGGCAGGTGTGCCGGCCCCAGCCCTGACCATGCATCCCTTTGGGGACCGACTTGGGGCCCCAGGGGGTGTCACGGGCGGCTGGGACAACCTCCTTGCTGTGATCCCTGGCGGCTCGTCTACCCCACTGATCCCCAAGTCTGTGTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACCAGCCCTGGTCCCTGCCCTCCTGGTTGCTGTCTCCCTCCCTGGGCCTCCCAGAAAACCCTCTTGCCAGCACTCAGGTCTCAGTTCCTGCAGCCTGAGATAAAGCAAGGTGGAAGAGGAGGGAGGAAGGCTGCTCTGAGGAGAATACCCCGGAGTCTGGGCAGCACAGGGGGCCCAGGGAGGCTGGAGGAGGCCAGAACGCTGGGTGGGCTGGGAAGAGCTTCTGGAACTGGGGGAGGGGCTGCTGCTAGGGGGCTGAGGCCCAGGCTTCTGTCTGGCCGTGGGTGCCTGCTAATTGCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCCGCCTCATTGAGTTCTATAAGCACGAGAGCTGTGGCCAGTGTACCCCATGCCGTGAGGGTGAGCATCGGGCAGGTTGGGGGCTTGCTTGCTGTGGCTTCATTTAACCTCCTCCCCACCACGTGGCCTGCAGCCCTCAAGCGCCGCCCCACATCCTGGCTGGGGAGATCATCAGGCCCTCTCTTGTGGCTGTGGCTGCAGGTGTGGACTGGATGAACAAGGTGATGGCACGTTTCGTGAGGGGGGGATGCCCGGCCGGCCGAGATCGACTCCCTGTGGGAGATCAGCAAGCAGATAGAAGGCCATACGATTTGTGCTCTGGGTGACGGGGCCGCCTGGCCTGTGCAGGTATTCACCACCCTTCTGCGTAGCACGGAGGGTGGGTGGCATCAAGGGCCCAGGGTGTTGGGGGATTTTTGGACTCTGTTTCACATGGTCCCCCCACCGACCCCAGGGTCTGATCCGCCACTTTCGGCCGGAGCTCGAGGAGCGGATGCAGCGGTTTGCCCAGCAGCATCAGGCCCGGCAGGCTGCCTCTTAGCCCACCACCCTGGCCTGCTGTCCTGCGTCTATCCATGTGGAATGCTGGACAATAAAGCGAGTGCTGCCCACCCTCCAGCTGCCGCTGCTGTGACTGTGCTCTTTACCCTTTACCCAGCACACGATCCTCAAGGGTGGGAGGGGAGAACAGGGTCCAGTCTGGCCCATGGCCAGAGAAAGGACAGGGTCTCATCTGGCTTGAAGGAGATGTTTATTTCGGCTCCATGATTTGGGGTGGGGTGAATGTGAAAGCGGGGAGAGAGGAAACACCTCTCTGACTTGGGGCTGGGCATGAGGGTAAGGCAGCCCCAGCCGCCATCATTTTTGTGGGGACGTTTCAGGCAGCTGTAGTGGAGGGGCGGCAGGCAGGGCCCATGGGCTAGTCGCTGAGCTGGACAGGCTTGCTGTCCAGCGGGTGCCACAGCTTCAGGCGGTGGTCACTGTGGCCCAGGCACTCAAGCCAGTGCCGCAGGCGCTCCCCACTGGCATGGCTGCCCAGCTGCACCCCGCCTGCCATGGGGGATGGGTCAGGAACCGCCAGGAGCCTACTGGGCCCCCACCCCAGCTCCTCATGTTCCCACTCACCAATGAAGTCATCAGCCGTGCCTAGGTCATAGTCCCACACAGACACCAGCAGCGTCTTCTGGGCCAGCTCCTCCCGTGGGCCTGAGTAAAAGAATTCCTGCAGGGAGAAGGGCAGAGAGGCGGGAAGGAGGCAGCCTCGGCTCTCCCACAGCTTAAGAAGCAGGCCACGGTAGGGTAGTGGCTCAGCATGTCAAGGCCAGGGTTGGCTGGGACCTGCCTGGCCCTGGCTCACCTCATTGAACTCGGGGTTCAGGGTCTTCCTGTGAACACTGGTTTTGAATTTAGATTTCTTCCCTGCATTTGGATGCAGGAAACTGATCGGGGAAGATTGGCGGGTTAGGTGTGGCCCTGGAGAGGTGAGGAGTCACCGCCTTATCCTCACCTCCCGCCTGCCTACCCCAGTTCACTCACAGGCGCACGAAGGGGTCCGAGTAACCATTGGCATCCATGGGGGCCAGGTGGGCGCAGCGCAGCACACCTACCAGCAAGCCACCCTGCTGAGAGCTGTAGCACAGTGACAGTAGGACGTGCCCACATTCCTCCCAGGCCACCTCTGTCTCCACCTCCTCCTGCAGGTGTAGGCTGAGGTCAGCCCCAATCCAGTCCAAAGCCCACCCCCTTTAGCCTCCGTGCTCTGGGCAGGAAAGCTCAACCTGGCCCCAAAGAAATCGGGGGCAACGACTTCATTTCCAATACAGCCACTTGCCCAGTGCCATGGAAGTGGCCCTATGGGTCAGCTGTACCCTCCAGGGCCTGACCAAAGGCGAGGCTTGCTGACCACATGACCAGTCAGATACGTCTGTCATGGAGGGGAAGCGAACTGGCTGACATGCCAGTAGCTCCCTAAGTGGCCTCCCATCCAGTGTGTGTAGCCACCCCTGTAGGCAAGCGGCTCTGAGAGGATGTTCACTTCCCAAGGAGAAGCAGATCTCTTCAAAACCCCACCCTCTTCACCCCCTATTTCCCTGGGGACCAGATGCTGAGTGTCGTTTGTCACACTCTGGGCCCTGGTGCTTCTGAACAGGCTCAGGGAGGAAGCCCGGGGAGGATGCACTGCTCTCACCCGCAGGGTAGGTTTCCATTTGCGGAAAGCCCCACCACCTTGCTCACAGGCGGTTCTCAGGAATGCGGAAGTGCTCTGTGGGCACCCACCATGCTCCGG | pathogenic | 179,485 |
The chromosome 11, position 67991615 genetic variant in gene UNC93B1 (unc-93 homolog B1, TLR signaling regulator): benign or pathogenic? If pathogenic, indicate disease(s). | benign | CATGGGAAATGCCCAGATAGGAAGAGCACAGCCAGGAGCCAAGCCCCTGAGTGGCCACTCCATGTGCCTGGATCACCTTCAAGTCTGCTCAACATCACAGCCTCTGTTCCTTGGCACCATGGACATTGGAATTGACTCGGAACTGGGAAGAGCTGTAGGCCCACTATCCAGGCACCTGCTCCCCGTTTGCCCAGCATCCCAGGGGCCCACACCCTTCCAAATATCACCTTGCCCTCCATTCAGAGGTGAATCATCTGAGCGTCAGGTTGCCCAACTCCGACTGGTTTTGCTGGAGCCTGCCTAGAGGATGTCGCCAGCCACCTCCAGAGAACACTCAGTCTACAGATGCCGAGGGGGAACTGGAAGCACACAGTGCTGGCCTTCACCCAGGTTATGGTGGCACCTCGGGACCGCTTCTGAGTCTGCTTGTCACTGAAGGTCGGCGTGAGGCAGGCAGCGTTCCCTCCCAGATTTAGAAAATGTCAAGTCTCCCGCCGCACCCTTTTGTGTTTCTTACAGGGCCTGGTGCGCTTGCTGCCGCCACACTAAGGGCTCCAACATGTTCCCTCACACACTCAACAGAGAAGGAACCTGTGGCTCAGATGGCAGACTCCCTGTCCAAGGCCACAGAGTCTGGCCCCAGGGACCACTAGAGGCTTCAAGAACCAAACTCACATGAGGGCAGAGAGGAGAGATGGGGCCAGTTTAGGGCTGGGAGAATCCATAGAGCGATGCTGAGGCAGGCATGGAGCCTGGAGGTACGGACGAGGGTCTCGCCAAAGTCAGGGGTAAAGAGGCTGTGGGGAGTGAGGAATGGTGTGGGCCAGCCCCGGGCCTGCTGGGGTGCAGCTGGGGGCTCCATGGCCCTCCCACGGCCCCCACTTGTCCTCACCCAACCGTTCAGAGCTCTTCATGGCGGGGGTGTCCTCTCCTCTGGCCACAAGAGGAGCGGGTGGAGGAACGGCACCTTCAGGCCTTGTAGGGGGTCTGCCCCTCCACCAGCCTGTTTCTCGTGGGCATCGCAGCTGAGGCTGTAGCCGGGAAAGGGTAGTCACCGAGCGTACCTGGCCTCCAACCACCACTTCCAAGGCCCCTACTGGGCACAGGGTGACCCCACCGTGGCTCGGAAGTGGACCCTGTCCGACGCGGGGGTGGTCGCTGGAGGGCGGAGGATGCCTACACAGGCCTCTGGAGGGTGTGTCTCGGGAGTCTGTCTCGCCCTCTGGACCCATGGGGGACCAGCAACGCCGTCACACCCTCCTCTGTCTCTGCCAGCCGCTCCGCCGCTCCCTTCTCCTGGCTGGGGCTGGCAAAGGCAGGCAGGTATGGGGGGGCGGGGCCTCAGGAGGGAGGAAGGGCTGGTGGGCGGGGCCTACGGACACCTCGCCCCGCCCCCAGTAGGGCGCGGCACTCCCCACACCACGCGGTCCCCCTAGGTCAGGGCCTGTCACCACTGCGCCCAGAGGCCGGGCCAGCCGTGCGTGCATCCCAGGGCATCCGTGCATCCGTCCCCCGCGGCCTGGGACTCCCCAGTCAGGACAGTACAAAATCTCTTTATTGCTCATTTTCTGTAAAAAATCGTGGCTCTCGGCGGACCCTGGGGATAGGAGGTGCAAAGTGCGCTCACACGCGGCCCGGGTCCGCGGCCGAGAGCTGTGGGGATCTGGAGCGGGCCGGGTCGCAAGAAGACCCTGACCGTGCTCCGGCGCTGGGGCGCGTGCTAAGGGCCCGCGGGGTTTCAGCTGTATTTTCGAACCCCTGTGCTTGGCCGAGGGGTTCCCAAGGCTCCACTCCGCCTTGGAGGGGGCTGCGGAAGCCCGGAGGTGACCTGGGCTCTGGGAGGGGCGTCCCCAACGTGGGGGAGGGGAGACAGGGGCCTTTGAAGACAGCGCGGGACTCGGAGGGGGTCCCCCCGACCTCAGACGTGGTAAACTGAGGCCGGCGAGGAGGGAGGCTGAGTCCGGGGACCAGGCGGCCCCTCACTGCTCCTCCGGCCCGTCTCCCCCCTGCGCCTGTTCGTACGGGCAGGGCCGGCGGCCGAGTCCAGCGGGCTCGGGGCCAGGCCTGGGCCCTGCGGGCGGCGCCTCCTCCTCCGCGCCGTCCCCATGCTCGCCCTCCGCGTCGCTCTCGTCCGAGTTGTCCTCCTCCAAGTAGCGGTAACCGCGCACCTTGTGCTGGGGCCGCGGGATGCGGGGCTGGCGCGGGGCCACGCCCCGGCGCAGCTTCTGCTCCATCCGCAGGTAGGAGACCGCGGCCGCCACCAGCGTCACCAGCAGCACCGCCAGCTTAGCCTGGGCGTAAGGAGAGGGATGCCAGGGACCCGCGGCCGCCTCGCCCCGCACCTTCCCCGCCTATGCCCCTCGCTGAGATAGGCCCTTCCCTCCTCCGGGAGCCTCCCGGGCCACGCGGCCCTCAACTTCTCCAGCCCCTCCACCCATGCTTCCTGGACCGCCTCCTGCAGGCGAGGCTCACATCCAGCACTGTCCCTTACAGTCGCCACGCCCCTGGCGACCTCAGTGTCCCACACTGTAAGGGGACAATGCAAATCCCTTTGCCTCATAGGGTGCATGCGCCAGTGTTGATAAAGTGCTGGCCACAGGCCCTGCCTTCCCAGGGCTCACAACACTGTGTCCCTGACACACCCGTGGGCTGTAGTGATGCTTTTCATGGGGTTTTGACTATAACCCGCAGTCAGGAATGATTTCACACCATAGCCCAGTACATACACACATATCTGTATGCATACTTCCTGCTCTTTTCTTTTTTCCAGACACGGTCGCTCCGTTTCCCCACCGCGCCCCCTCCCTCCCTTCCCCCACCCACTGCTGGAGCGCAGTGGCACGCTCACTTCAGCCTCAATCTTCCAGGCTCAAGCCATCCTCCCACTTCAGTCTCCCAAGTAGCTGGAACTACAGGCACACGCCACTACGCCCAGCTATTTTTTAAATTTTTTGTAGAGACAGGGTCTCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCACTCACTGCTTTTCTTTTTTTTTTTTCCTTTTTTTTTTTTTTGGAAGACAGAGTCTCGCTCTGTCCTCCAGGCTGAAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCCATTCTTGTGCCTCAGCCTCCAGAGTAGCTGGGATCACAGGGACGTGCCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACAGAGTTTCACAGCCTGTTACCCAGGCTGGTCTCGAACTCCAGATCTCAGAACCCCCACCTCAGCGTCTCAAAATGCTGGGATTACAGGCGTGAGCCACTACTGCCAGCCCACTCCCTGCTATTTTTAGTTCTATTTTTATTTTTATTTTGAGACGGAGTTTCGCTCTTGTTGCTTAGGCTGGATGGAGTGCCAACGCCCCGTCTCGGCTAACTGCAACCTCCGCCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTCGGTCAGGCTGGTCTCAAACTCCCTACCTCAGGCAATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTAGTTCTATTTTTAAAAAATGTTTAGCAACTGGGACTTGCTAGACCGAGCCACCATTTTTTGTGAGCAGAGCATGAGGAGCCTGCTCCCCTTCAGGCCATGAAGAGAGACAGACCCAACATCTGGAGAACAAGGTACCAAACAGCCCACAGGATGGCTGTGATGCACCCACAAATCCCCTCAGAGATGGGCAAACTGAGACTGGCTGGAGGTGGGCCAGTAAGTGGGGTGCTGAGTTGGGGGCCACCCAGTGGGCTGCAGGAATGGGGCCTTGGCCCAGAGACTGGCTTGGGAAGGGGTGGCATTTAGGAAGCTGTGAAGCCAGGGCAGGGGCTAAGGAAGTACCTGTCATTGGGCATGGGGCCCCCAACCC | CATGGGAAATGCCCAGATAGGAAGAGCACAGCCAGGAGCCAAGCCCCTGAGTGGCCACTCCATGTGCCTGGATCACCTTCAAGTCTGCTCAACATCACAGCCTCTGTTCCTTGGCACCATGGACATTGGAATTGACTCGGAACTGGGAAGAGCTGTAGGCCCACTATCCAGGCACCTGCTCCCCGTTTGCCCAGCATCCCAGGGGCCCACACCCTTCCAAATATCACCTTGCCCTCCATTCAGAGGTGAATCATCTGAGCGTCAGGTTGCCCAACTCCGACTGGTTTTGCTGGAGCCTGCCTAGAGGATGTCGCCAGCCACCTCCAGAGAACACTCAGTCTACAGATGCCGAGGGGGAACTGGAAGCACACAGTGCTGGCCTTCACCCAGGTTATGGTGGCACCTCGGGACCGCTTCTGAGTCTGCTTGTCACTGAAGGTCGGCGTGAGGCAGGCAGCGTTCCCTCCCAGATTTAGAAAATGTCAAGTCTCCCGCCGCACCCTTTTGTGTTTCTTACAGGGCCTGGTGCGCTTGCTGCCGCCACACTAAGGGCTCCAACATGTTCCCTCACACACTCAACAGAGAAGGAACCTGTGGCTCAGATGGCAGACTCCCTGTCCAAGGCCACAGAGTCTGGCCCCAGGGACCACTAGAGGCTTCAAGAACCAAACTCACATGAGGGCAGAGAGGAGAGATGGGGCCAGTTTAGGGCTGGGAGAATCCATAGAGCGATGCTGAGGCAGGCATGGAGCCTGGAGGTACGGACGAGGGTCTCGCCAAAGTCAGGGGTAAAGAGGCTGTGGGGAGTGAGGAATGGTGTGGGCCAGCCCCGGGCCTGCTGGGGTGCAGCTGGGGGCTCCATGGCCCTCCCACGGCCCCCACTTGTCCTCACCCAACCGTTCAGAGCTCTTCATGGCGGGGGTGTCCTCTCCTCTGGCCACAAGAGGAGCGGGTGGAGGAACGGCACCTTCAGGCCTTGTAGGGGGTCTGCCCCTCCACCAGCCTGTTTCTCGTGGGCATCGCAGCTGAGGCTGTAGCCGGGAAAGGGTAGTCACCGAGCGTACCTGGCCTCCAACCACCACTTCCAAGGCCCCTACTGGGCACAGGGTGACCCCACCGTGGCTCGGAAGTGGACCCTGTCCGACGCGGGGGTGGTCGCTGGAGGGCGGAGGATGCCTACACAGGCCTCTGGAGGGTGTGTCTCGGGAGTCTGTCTCGCCCTCTGGACCCATGGGGGACCAGCAACGCCGTCACACCCTCCTCTGTCTCTGCCAGCCGCTCCGCCGCTCCCTTCTCCTGGCTGGGGCTGGCAAAGGCAGGCAGGTATGGGGGGGCGGGGCCTCAGGAGGGAGGAAGGGCTGGTGGGCGGGGCCTACGGACACCTCGCCCCGCCCCCAGTAGGGCGCGGCACTCCCCACACCACGCGGTCCCCCTAGGTCAGGGCCTGTCACCACTGCGCCCAGAGGCCGGGCCAGCCGTGCGTGCATCCCAGGGCATCCGTGCATCCGTCCCCCGCGGCCTGGGACTCCCCAGTCAGGACAGTACAAAATCTCTTTATTGCTCATTTTCTGTAAAAAATCGTGGCTCTCGGCGGACCCTGGGGATAGGAGGTGCAAAGTGCGCTCACACGCGGCCCGGGTCCGCGGCCGAGAGCTGTGGGGATCTGGAGCGGGCCGGGTCGCAAGAAGACCCTGACCGTGCTCCGGCGCTGGGGCGCGTGCTAAGGGCCCGCGGGGTTTCAGCTGTATTTTCGAACCCCTGTGCTTGGCCGAGGGGTTCCCAAGGCTCCACTCCGCCTTGGAGGGGGCTGCGGAAGCCCGGAGGTGACCTGGGCTCTGGGAGGGGCGTCCCCAACGTGGGGGAGGGGAGACAGGGGCCTTTGAAGACAGCGCGGGACTCGGAGGGGGTCCCCCCGACCTCAGACGTGGTAAACTGAGGCCGGCGAGGAGGGAGGCTGAGTCCGGGGACCAGGCGGCCCCTCACTGCTCCTCCGGCCCGTCTCCCCCCTGCGCCTGTTCGTACGGGCAGGGCCGGCGGCCGAGTCCAGCCTGCTCGGGGCCAGGCCTGGGCCCTGCGGGCGGCGCCTCCTCCTCCGCGCCGTCCCCATGCTCGCCCTCCGCGTCGCTCTCGTCCGAGTTGTCCTCCTCCAAGTAGCGGTAACCGCGCACCTTGTGCTGGGGCCGCGGGATGCGGGGCTGGCGCGGGGCCACGCCCCGGCGCAGCTTCTGCTCCATCCGCAGGTAGGAGACCGCGGCCGCCACCAGCGTCACCAGCAGCACCGCCAGCTTAGCCTGGGCGTAAGGAGAGGGATGCCAGGGACCCGCGGCCGCCTCGCCCCGCACCTTCCCCGCCTATGCCCCTCGCTGAGATAGGCCCTTCCCTCCTCCGGGAGCCTCCCGGGCCACGCGGCCCTCAACTTCTCCAGCCCCTCCACCCATGCTTCCTGGACCGCCTCCTGCAGGCGAGGCTCACATCCAGCACTGTCCCTTACAGTCGCCACGCCCCTGGCGACCTCAGTGTCCCACACTGTAAGGGGACAATGCAAATCCCTTTGCCTCATAGGGTGCATGCGCCAGTGTTGATAAAGTGCTGGCCACAGGCCCTGCCTTCCCAGGGCTCACAACACTGTGTCCCTGACACACCCGTGGGCTGTAGTGATGCTTTTCATGGGGTTTTGACTATAACCCGCAGTCAGGAATGATTTCACACCATAGCCCAGTACATACACACATATCTGTATGCATACTTCCTGCTCTTTTCTTTTTTCCAGACACGGTCGCTCCGTTTCCCCACCGCGCCCCCTCCCTCCCTTCCCCCACCCACTGCTGGAGCGCAGTGGCACGCTCACTTCAGCCTCAATCTTCCAGGCTCAAGCCATCCTCCCACTTCAGTCTCCCAAGTAGCTGGAACTACAGGCACACGCCACTACGCCCAGCTATTTTTTAAATTTTTTGTAGAGACAGGGTCTCCTATGTTGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCACTCACTGCTTTTCTTTTTTTTTTTTCCTTTTTTTTTTTTTTGGAAGACAGAGTCTCGCTCTGTCCTCCAGGCTGAAGTGCGGTGGCGCGATCTTGGCTCACTGCAACCTCCATCTCCCAGGTTCAAGCCATTCTTGTGCCTCAGCCTCCAGAGTAGCTGGGATCACAGGGACGTGCCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACAGAGTTTCACAGCCTGTTACCCAGGCTGGTCTCGAACTCCAGATCTCAGAACCCCCACCTCAGCGTCTCAAAATGCTGGGATTACAGGCGTGAGCCACTACTGCCAGCCCACTCCCTGCTATTTTTAGTTCTATTTTTATTTTTATTTTGAGACGGAGTTTCGCTCTTGTTGCTTAGGCTGGATGGAGTGCCAACGCCCCGTCTCGGCTAACTGCAACCTCCGCCTCCCAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCACCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTCGGTCAGGCTGGTCTCAAACTCCCTACCTCAGGCAATCCACTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTAGTTCTATTTTTAAAAAATGTTTAGCAACTGGGACTTGCTAGACCGAGCCACCATTTTTTGTGAGCAGAGCATGAGGAGCCTGCTCCCCTTCAGGCCATGAAGAGAGACAGACCCAACATCTGGAGAACAAGGTACCAAACAGCCCACAGGATGGCTGTGATGCACCCACAAATCCCCTCAGAGATGGGCAAACTGAGACTGGCTGGAGGTGGGCCAGTAAGTGGGGTGCTGAGTTGGGGGCCACCCAGTGGGCTGCAGGAATGGGGCCTTGGCCCAGAGACTGGCTTGGGAAGGGGTGGCATTTAGGAAGCTGTGAAGCCAGGGCAGGGGCTAAGGAAGTACCTGTCATTGGGCATGGGGCCCCCAACCC | benign | 179,494 |
Chromosome 11, position 68042683, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCCCACCCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCC | CCCCACCCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCN | pathogenic | 179,543 |
Is the genetic mutation found on chromosome 11 at position 68042689, within the gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGA | CCCACATCGGCCTTGAGCAAGGCCCCGGGCCCTTCCCCGCCATTCTGTAGTTTCACTTTTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAN | pathogenic | 179,544 |
Regarding the variant at chromosome 11 and position 68042747, affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCC | TTGTTGGTTTCAACACCTGGAAGGCTGCGGCTGCTGCCGGGCGGCCCGGGCCTCAGGGGACAGCCCCCCCACAGCAGTGCTCCCTGGCTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCNNNNNNN | pathogenic | 179,548 |
Does the variant impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) on chromosome 11, position 68042834, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAG | CTAGCCCCAGGGTACCCGGTGGAGATGCCCGCTCCTACCACTCAGCACATGCAGCTCCACAGGGAGCAGCGAGGGCTCCAGCCACCCCCGGGGCAGCCCTGGGCCTAAGTGCCTGGGCCAGTGGGGTCCTGTCTAGGGTGACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGN | pathogenic | 179,552 |
Gene mutation in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) at chromosome 11, position 68042974—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | ACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCA | ACGGCAGCCCGAGAGGAGGGAGGCCAGAGTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCANNNN | pathogenic | 179,556 |
Is the variant located on chromosome 11 at position 68043002, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTT | GTGAAGGTGGGGGTGGAGCCGGTGTCACTGGGAGACGCTGGAGGTAGGGGCGGGGGTCCCCATGGGCAGAGCAAGCCAGGAGAGAGCTTGAGGTCGGCCTGAGGGTGGGCTTCGGGGTCTCCCAGTCCCACTGCTTACTTTCTGCGTGACCTCAGCACCGCATCAAGCCTGCCCAGGCCTCAGTTTCCACCTCTGTCAGATGGGGGTGGTAACAGCAGCTTCCAGGATTCAGTGAGTGAAGGTGCACAGGTGCCCGTGGTTGGGAACTGTCTGTGGTCTGCCCCTGACTGGCCCCCATCCGTGTCCACCCACAGGACCATGGGCTCCATGTTCCGGAGCGAGGAGGTGGCCCTGGTCCAGCTCTTTCTGCCCACAGCGGCTGCCTACACCTGCGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCT | pathogenic | 179,557 |
Considering the genetic mutation at chromosome 11, position 68043394, impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTG | CGTGAGTCGGCTGGGCGAGCTGGGCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGNNNNNNNN | pathogenic | 179,563 |
Is chromosome 11, position 68043417, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAA | GCCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAANNNNNNNNNNNNNN | pathogenic | 179,565 |
Evaluate if the mutation on chromosome 11 at position 68043418 in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAAC | CCTCGTGGAGTTCAGAGACGTGAGTTGGGTGGGCAGGCGTGGGAAGGGGGCTACTGCCAAGGTTAGCCCGGAGGCCGGTCCAGGATGGGGACTGCCCCCCCTCCGCCATAGGGCCCTGGCCCCATTTGAACCCCAGCGGCCCCTGCCATGGGCACTGCTCATGGGAAGCCCGCAGCTGAGGCCCCTGAGCTGGCTCCTCCCCATACCCTCCTGGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACN | pathogenic | 179,566 |
Clinical impact (benign or pathogenic) of the variant at chromosome 11, location 68043630, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): what disease(s) if pathogenic? | pathogenic; ['TCIRG1-related_disorder'] | GGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCC | GGGGCATGGGGTCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCN | pathogenic | 179,575 |
The chromosome 11, position 68043641 genetic variant in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG | TCTGGTCTGTGCTCTGATCTGCGTCTTGTGGCTCCCAGGGCACTCCACACCTTTCTGGAGGAGGCAGCTAAGGCCTGGGGAGAGTCAGGCCTGGGCTCTAGGGTGAGGAGCTCCCTGACCCCCTTCCCGGGACACTCACCCCTCCGTGTGGCACCCACAGCTCAACGCCTCGGTGAGCGCCTTCCAGAGACGCTTTGTGGTTGATGTTCGGCGCTGTGAGGAGCTGGAGAAGACCTTCAGTGAGTTGGTCCCAGGCCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGN | pathogenic | 179,576 |
Does the chromosome 11 mutation at position 68043896 within gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTC | CCTACATTCCAGGCAGGCTTCCTGGAGGAGGCATGGGCCAAGTTTGATCTGAAAGGAAGAGTCTGGGTTTGCCAGGTGGAAGGCAGAGAAGGGAGGTATATGCAGGGCCCTGCAGGGCCAAGACAGAGCAGCTGGGATCTGTGAAGTGTGCTTGCGAAGGTGGCTGCCTTGTGTGGGCTGAGCAGAGGGCCTAGGGCAGGGCTGGCTGGGGAGGCCTCGAATACAGCATAAGAGCCCAGGACTTCGTCCTGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCN | pathogenic | 179,581 |
Clinically, how would you classify the variant at chromosome 11, position 68044145, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGA | TGTGGGCGCCAGGAAGCCACAGGGGTTTCTAAGCAGGGAAGAGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGANN | pathogenic | 179,584 |
Clinically, how would you classify the variant at chromosome 11, position 68044186, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | AGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGG | AGGCACAGACAGCTTTCTCCTCTACAGCTGGGCTGGGGTGGGTGGGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGGGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGNNNN | pathogenic | 179,585 |
Assess the variant on chromosome 11, position 68044230, impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGT | GGGCCCAGGATCTAGGGTAGGGTACCCCTAAGGAGCAGGCAAAAGGGACCCCTGCCCTGGGCAACCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGG | pathogenic | 179,586 |
Mutation at chromosome 11, position 68044294, within TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTA | CCCCTCTCAGGAGGAGCCTGTGGGGGCACCAAGGCAGGGGCATGGGGCAGGCAGGGTTTTGTGTTTGCTGGTGCAGTTTACAGCTTTTCAATGATCAGGCAGACACAGGACTCACGCCAGCTCCGGTCCCAAGCCCTGCAGCGCAAGGGCCGGCCTGTGGGGAGACCTCAGGCCCTCTTCTGAGTGGTGGCCAAGGGACTGGGGAGGGAGAGTGAGCCCAGACCTGAGCTCAGGGAGGGGAGCACAGCTTCTGGATGAAAGTTTGGCCGGGATTTTCTGGCCACCTCCACCTGGTGAATCCAGCAGCTGGTGGCCGATGGAGTTTGGGGCAGCAGGTGGGGCCCTCAACTGTTGAGACAACCTCAACTGCACCCCACTCCCGTTCCTCTGCGCCCAGCCTTCCTGCAGGAGGAGGTGCGGCGGGCTGGGCTGGTCCTGCCCCCGCCAAAGGGGAGGCTGCCGGCACCCCCACCCCGGGACCTGCTGCGCATCCAGGAGGAGACGGAGCGCCTGGCCCAGGAGCTGCGGGATGTGCGGGGCAACCAGCAGGCCCTGCGGGCCCAGCTGCACCAGCTGCAGCTCCACGCCGCCGTGCTACGCCAGGGCCATGAACCTCAGGTCAGCTCCCACCCAGGCAGGAGACTGGGGGGCTGGGGAGGGGCTGTCCAGCCTAGGGCTCATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGT | pathogenic | 179,589 |
Gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant at chromosome 11, position 68044973—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | ATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTT | ATGGTGCTTCTGGGTTCCTAGCTGGCAGCCGCCCACACAGATGGGGCCTCAGAGAGGACGCCCCTGCTCCAGGCCCCCGGGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTT | pathogenic | 179,596 |
Evaluate if the mutation on chromosome 11 at position 68045052 in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'Osteopetrosis'] | GGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCC | GGGGGCCGCACCAGGACCTGAGGGTCAAGTGAGTGAGGGATGACCTCATGCCCTTTCTGGCCAGCCCAGAACCCCTGGCCAGTCGCTGGGCTGGGCCAGGCTGAGCTCCGACTCCTTGTCCAGTGCTCTCCCCAGGCTGGCCCCGCCTCCTCCTTCAGGCCCGGAACTTCCCACAGTCCCAAGCCCTAGCCCTAGGGGGTTCTCCTCTTCTGGTCCTGCCCGGGAGGCCTCCTGCCTTCCCCTGTGGGCAGGGCCAGTGTGCCCAATTGCCCGATTGCCCGTGCTGGGCAGGGTCCTGCCCGGGGGGCCTGGTGGGGGAGGCAGGGCAGGAGGTTGGAGCAGCCCTGCCCAGCCCCGTGGCCGCCAGCTTTGTGGCAGGTGCCGTGGAGCCCCACAAGGCCCCTGCCCTAGAGCGCCTGCTCTGGAGGGCCTGCCGCGGCTTCCTCATTGCCAGCTTCAGGGAGCTGGAGCAGCCGCTGGAGCACCCCGTGACGGTGAGCAGCTGGCGCTGGGCTGGGGGGTCCTGGGCAGAGCGGGACCCCAGAGTCAGCTGAGCCTGCTCTGCAGGGCGAGCCAGCCACGTGGATGACCTTCCTCATCTCCTACTGGGGTGAGCAGATCGGACAGAAGATCCGCAAGATCACGGACTGGTGAGTCACTGGGAACACCCGCCCCACCGCCCTGCTCCCCAGGCCCCTGCTGTCACCTCCCAGCCCGCCCTATCGTGACTCCTCCCCATGAGCTCCCTTCAGACTCAGAGTCTCGTAGCTGTGTCCTTCTGGCCCCTCACGCAGCGCATCCTCCCTCCAGCTTCCACTGCCACGTCTTCCCGTTTCTGCAGCAGGAGGAGGCCCGCCTCGGGGCCCTGCAGCAGCTGCAACAGCAGAGCCAGGAGCTGCAGGAGGTGGGTGCCCCCGGCCTTCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTCCCGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCTGGCCTGGCCTCCAGGAGGTGGGTGCAGGAGGTGGGTGCCCCCGGCCCAGCCACCCCACCTGCCTGCCCAGCCCCCGCTGACTGCCCACTCTGGCGCAGGTCCTCGGGGAGACAGAGCGGTTCCTGAGCCAGGTGCTAGGCCGGGTGCTGCAGCTGCTGCCGCCAGGGCAGGTGCAGGTCCACAAGATGAAGGCCGTGTACCTGGCCCTGAACCAGTGCAGCGTGAGCACCACGCACAAGTGCCTCATTGCCGAGGCCTGGTGCTCTGTGCGAGACCTGCCCGCCCTGCAGGAGGCCCTGCGGGACAGCTCGGTGAGCAGCCTGAGGCCTCGCCCCCTCTCCGCCCGCCCCTCCTACCAGGCCGGGGCGTTTCTGCCTCACTTCCAGCCTCTGGCTCCCTGCACCTGGGCTTTGCCTAGGGGCTCCTTCTCCTCCCAGCCTCCTCCATGGCCCACCGCTTCCAGGGAGTCTGCCCTGATGGCCCTGGCCCAGCAAGCCCTACCCTGACTTTCCTAAGTCCCTGGAGGCTGCACAGGATAGTTTTAAAGTCAGAAGCCTCATTCCAATCCAGGCCCCCCTGTGACCTTAGGCCTGCTCATGGTCTGTGGAACCGGTGTGATGCCCCTGCCTCCGGGGGTCACCCGCCGCGCACAGCAGGTGCTTGCGGGTGAGGCTGGGCTCCTTCTCCTGGGCCGTCCCTAGGAGGCAGCATGCTTGCCTTTCCCAAGCAATTGCCAATCCATGTGGTGTCTTTGGGCCCCCACCAGGGCAGAGCAGGGCTGATCATCTCACGTCAGAGAGAGGGGAAGGGGCTGCCCAGTGAGCCCCCACAGGGCTCTACATCTCCAGCTGGGCCTGGCTGGAGATCCCAGGGTCCCTGAAGGCCCCCGCCACCGTTCTGGTCTGTCTCTGCCCTGGCACCCAGATGGAGGAGGGAGTGAGTGCCGTGGCTCACCGCATCCCCTGCCGGGACATGCCCCCCACACTCATCCGCACCAACCGCTTCACGGCCAGCTTCCAGGCATCGTGGATGCCTACGGCGTGGGCCGCTACCAGGAGGTCAACCCCGGTGAGAGCCACGGCATCCTTACCCGTGTCCTGGGAGGCTCAGCTGCCCCACTGGGTGGGTGTGAGCCTGAGGGGGAGGTATCTCCATCCTGGGCCTGGCCTGCCCTCCTGGGATGAGGGGCACACATCCCATCACTCTCAAGGGGCTGTTGGGCTCTGCAGCCAGTGTGAGGCTTTATGTCGGCCCCCAGCCAACTCCCCCTTGTTGAGTTTACAAGGGAGCCGGCACGGGCTTGTGCAAAGAACAGAGGCTGTGCGGTGGGCATGGCCCAGGTTGGAAGCCCATCTCGCCTACTTTGAGACATTTCTTAGCTTCTCTGAGCCTCAGCTGCCTCACCTGCAAAATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCN | pathogenic | 179,598 |
Benign or pathogenic: chromosome 11, position 68047494, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'TCIRG1-related_disorder'] | ATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCC | ATGGAAATAATAGCGCAAACCTCAGAGGAATGTTGGGAAGCTTAGTGACTGTTGGAGACTGCAAGCTGGAGCCAGGGGCAGCCTTTGGTGTGGTTGCTTTGGTTGCACAGCTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCAGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCN | pathogenic | 179,602 |
Is the genetic change at chromosome 11, position 68047652, within gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'TCIRG1-related_disorder'] | AGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGG | AGTGCAATGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGNNNNNNNNNNN | pathogenic | 179,611 |
Is the genetic variant on chromosome 11, position 68047659, gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGT | TGGCATGATCTCGGCTCACTGAAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTNN | pathogenic | 179,612 |
Located at chromosome 11 position 68047684, the variant affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCC | CTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCA | pathogenic | 179,614 |
Evaluate the clinical significance of the mutation at chromosome 11, position 68047710 in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCG | TCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTCATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGN | pathogenic | 179,615 |
A mutation at chromosome position 68047799 on chromosome 11 in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTG | CCATGTTGGTCAGGCTGGTCTTGAACCCCCGACCTCACGTGATCCACCCACACAGGCCGTTGGGGGCCCAAGCACCCTGACTCTTGCCCACTGGATGAGGCAGGGCCCCTCCCTGTCCTGTGACCAAGTCCCCTCCCGACATGGGCTCCACCACATCACACCCATGCTATGGGCCGGGCCCCCACTCAGTGTCACTGGGGGCACTGGGGGGTTTGCTGCTTCTGCAGGGCCAGTGTCCTGGGGCTGGATCTGGGCCCCAACAGGATTCCCCTGCACGTGGGCAGAGGCTGGTGCAGCTAGAGCATCACCTGGAGGCCCGTGGCAGATAGAATGCTGCCAGCTCAAAGCACCAGCCGTCGGGGCAGCGTGTTTGCCAGGGAAGCTGTAACAAAGTGCCACCGGCTACTGGCTTAAGGGGCAGACACGGTCCCACAGTCCTGGAGGCTGGAAGTCCAAGACCAAGGTGTCAGCAGGGGCCGGGGGCACTGGCTGATGCCTGTGATCTCAGCACTTTGGGAGGCTGTGGTGGGAGGAGGATCTCTGGAGTCCAGGAGTTCGAGACCAGCCTGGGCAACATAGCAAGCCCTTGTATCTTAAAAAAATAAAAGATGATGAGGTGTTGTCAGCAGGAGTGGCTCCTTCTGAGGCTGTCCAGGAAGATCTGTTCCCGGCCTCTCTCCTGGGCTTGGAGCGGCCGTCCTCATCTTCACACACTGTTCTCCTTCTATGTGGGTCCAAATGTTCCTTTTCATAAGGACATCGGGCACACTGGATTGGGGCCCACTGTAATGGCCTTATCTTAACCCAGTGACCTCTGTAAGGACCCTGTCTCCAAAGAAGGTCACATCTGGAGTTCCTGGGGGTTGCGACTCCAGTGTATCTTTTTTGGGGTCACAACACAGCCCCTGACAGTGTGTATGTTGGGGTCCTCCTGCCTCCCATGAGGACTTGTTCCCATTTTACTGATGGGAAGTCGAGACTTCAGAGCTGAAGTGACCAGCTCGGCCTCCCGGAACTTGCCATGTGCCAGCTGGGGCTGCCTGTGGCTCCCTGTCCTCTCTGGCTTCTGTGTGGAGCTCTGGGAACAGCAACAGCTGAAGCTGCTAACTTCCTGTGGCTCCAGCAGCTGGCCCGTGCTGCCCGTGGAGAACTTATGAAGTGGTCTGGTGTTACCTGCATTTTACAGATGGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGN | pathogenic | 179,618 |
Considering the genetic mutation at chromosome 11, position 68048987, impacting TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAA | GGGGAAATGGAGGCTCAGAGAGGTGAAGTGGCTGGGCCAAGGTCACACAGCTCCTAAGTGGTGGGTTCTTTTTTTTTTTTTTTTTTTCGGAGACAGAATCTTCGCTCTGTCGCGCAGGCTGGAGTGCAGTGGCGCGAGCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCATGCCCAGCTAATTTTTCTGTTTTTAGTACAGGCAGGGTTTCACCGTGTGGGCCAGGCTGGTCTCGAACTCCTGACCTCGGGTGATGCCCCCCCCCCCCCCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCTGCTAAGTGATGGGTTCTTGACTGCAGGCCAGCAGGGCCTCCGTGGCGTCTTGGGCCGGGAGGCAGATGCTGGTGTGTTCGGGGGTTCCCAGCTCACCCACCTCTGCCCACAGCTCCCTACACCATCATCACCTTCCCCTTCCTGTTTGCTGTGATGTTCGGGGATGTGGGCCACGGGCTGCTCATGTTCCTGTTCGCCCTGGCCATGGTCCTTGCGGAGAACCGACCGGCTGTGAAGGCCGCGCAGAACGAGGTGAGGGGCGGGGCTGGGGTCCTGATGAGGGTAGCAGGGCCAGGCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAATCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTG | pathogenic | 179,626 |
The genetic variant at chromosome 11, position 68049664, affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1', 'TCIRG1-related_disorder'] | GCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTA | GCAGCCCCTCACCACACCACTGCCCCCCCAGATCTGGCAGACTTTCTTCAGGGGCCGCTACCTGCTCCTGCTTATGGGCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAN | pathogenic | 179,638 |
Evaluate if the mutation on chromosome 11 at position 68049741 in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCT | GCCTGTTCTCCATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTN | pathogenic | 179,639 |
Gene mutation in TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) at chromosome 11, position 68049751—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATC | CATCTACACCGGCTTCATCTACAACGAGTGCTTCAGTCGCGCCACCAGCATCTTCCCCTCGGGCTGGAGTGTGGCCGCCATGGCCAACCAGTCTGGCTGGAGGTGAGGCCCGGGCCCCAGCCCGGCTGGGGGCCCCGCAGCACCCGCAGCCCTGACCGCCCTCCCCTGCGTTGCCGCAGTGATGCATTCCTGGCCCAGCACACGATGCTTACCCTGGATCCCAACGTCACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATCCTGTGAGTCCTGGGATGGAGTGTCCGTGGGTGGTGAAGGCAGCTGGGAGTGGGGGCTGGGGCTCCCCTCGGTTCAGCCGTCCTGCAGCGCTGTCGCTGAGCACTCCTGTGTGCCAGGCCCTTTCCTCAGCACAAGAGGCAGACAAGCCTCCTGCCCTGCGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCN | pathogenic | 179,640 |
Determine whether the variant at chromosome 11, position 68050177, in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAG | CGGAGCCTGCATCACAGTCCCCTGAGTGTGCGGAGGCAAAGCGAGACCAGCCAGGAACCAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGNNN | pathogenic | 179,646 |
The mutation in gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) at chromosome 11, position 68050235—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | CAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTG | CAGTCTCCTGAGTGTGCAGAGGCAAAGCGAGACTGGACAGGAACCAGCCTGCAGCTTGCACTGTGCCAAGCACTGTTCCCAACCCTCTGTGGAAGTGATTTTCTTTTTTCTTTTTTTTATTTTTGGATATAGAGTCTCATTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCCATCTCCCGGGTTCAAGCGATTCCCCTGCTTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCTGGCTAATTTCTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGNN | pathogenic | 179,648 |
Does the variant on chromosome 11 at location 68050524 affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGAGACTGTGACTGAGCTGACAGTGGGGCAAAGTGAAGGAGCCCAGTATTGGAAGATCGGCTCCACATGTATCTCTGCGAGGAGACTGCAAGCGAGCTCGTGTGGACCAGGCAGAGGCGAGGGCTGAGTGAGGCCAGCAGTGGCCTGGGCACAGGAAGACGGTGAGTGAGAAGCCACTGGAGCTCCTGTGCAGGAGCGCAACACCTTTACTGCTTCATTCAGTTTGGCTTCACCTGCTTAAAACTGTAACTCTCTAGAAGGCTGAACAGCAAAAGCCTCCCTCCTGCCCAG | TAGAGACAGGGTTTCACCATGTTGGCTAGGCTGGTCTCGAACTCCTGACCTCATGTGATCCACCTGCTTCAGCCTCTCGAAGTGCTGGGATTACAGGCGTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGAGACTGTGACTGAGCTGACAGTGGGGCAAAGTGAAGGAGCCCAGTATTGGAAGATCGGCTCCACATGTATCTCTGCGAGGAGACTGCAAGCGAGCTCGTGTGGACCAGGCAGAGGCGAGGGCTGAGTGAGGCCAGCAGTGGCCTGGGCACAGGAAGACGGTGAGTGAGAAGCCACTGGAGCTCCTGTGCAGGAGCGCAACACCTTTACTGCTTCATTCAGTTTGGCTTCACCTGCTTAAAACTGTAACTCTCTAGAAGGCTGAACAGCAAAAGCCTCCCTCCT | benign | 179,652 |
Regarding the variant at chromosome 11 and position 68050622, affecting gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | GTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGAGACTGTGACTGAGCTGACAGTGGGGCAAAGTGAAGGAGCCCAGTATTGGAAGATCGGCTCCACATGTATCTCTGCGAGGAGACTGCAAGCGAGCTCGTGTGGACCAGGCAGAGGCGAGGGCTGAGTGAGGCCAGCAGTGGCCTGGGCACAGGAAGACGGTGAGTGAGAAGCCACTGGAGCTCCTGTGCAGGAGCGCAACACCTTTACTGCTTCATTCAGTTTGGCTTCACCTGCTTAAAACTGTAACTCTCTAGAAGGCTGAACAGCAAAAGCCTCCCTCCTGCCCAGCCGCTCAGCATCCCCAGGCACCAGCACTGCTCCCAGTCTCCAACGTCCTCCAGGGCTCTTCGCTTCTGGGCTAGAAGCAGGGAAACCAGAGTGTGCTG | GTGAGTCACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGAGACTGTGACTGAGCTGACAGTGGGGCAAAGTGAAGGAGCCCAGTATTGGAAGATCGGCTCCACATGTATCTCTGCGAGGAGACTGCAAGCGAGCTCGTGTGGACCAGGCAGAGGCGAGGGCTGAGTGAGGCCAGCAGTGGCCTGGGCACAGGAAGACGGTGAGTGAGAAGCCACTGGAGCTCCTGTGCAGGAGCGCAACACCTTTACTGCTTCATTCAGTTTGGCTTCACCTGCTTAAAACTGTAACTCTCTAGAAGGCTGAACAGCAAAAGCCTCCCTCCTGCCCAGCCGCTCAGCATCCCCAGGCACCAGCACTGCTCCCAGTCTCCAACGTCCTCCAGGGCTCTTCGCTTCTGGGCTAGAAGCAGGGAAACCAGAGTGTGCTGNNNN | pathogenic | 179,654 |
Gene TCIRG1 (T cell immune regulator 1, ATPase H+ transporting V0 subunit a3) variant at chromosome 11, position 68050629—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_osteopetrosis_1'] | ACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGAGACTGTGACTGAGCTGACAGTGGGGCAAAGTGAAGGAGCCCAGTATTGGAAGATCGGCTCCACATGTATCTCTGCGAGGAGACTGCAAGCGAGCTCGTGTGGACCAGGCAGAGGCGAGGGCTGAGTGAGGCCAGCAGTGGCCTGGGCACAGGAAGACGGTGAGTGAGAAGCCACTGGAGCTCCTGTGCAGGAGCGCAACACCTTTACTGCTTCATTCAGTTTGGCTTCACCTGCTTAAAACTGTAACTCTCTAGAAGGCTGAACAGCAAAAGCCTCCCTCCTGCCCAGCCGCTCAGCATCCCCAGGCACCAGCACTGCTCCCAGTCTCCAACGTCCTCCAGGGCTCTTCGCTTCTGGGCTAGAAGCAGGGAAACCAGAGTGTGCTGGGGAAGA | ACCGCGCCCAGCCTGATTTTCTATTTGAACCTCGTAACAACCCCGTGGGCCTCACATTAGTAGTGTCCTCACCTAAAGAAGAGACTGAGGCACAGAGGTCATGCCCAAGGTCACCCAGGCTGGCACCGTGGCAGCTGGCCCATCTGCGCTCTGTTGCCCCTCGGTGGGTGGGTGATGGATGAGGCTGCAGGCTCCGAGGGGGAAAACAGGGTGGTGAGAGAGTGACTCGGGCCGGGGACTTCCTGGCAGTGATGGCGAGGGAGCCCCTGAGTCCAGCCCACCCCTGCTGCCACCCTAGATTTGGAGCCTGGCTGCCAACCACTTGAGCTTCCTCAACTCCTTCAAGATGAAGATGTCCGTCATCCTGGGCGTCGTGCACATGGCCTTTGGGGTGGTCCTCGGAGTCTTCAACCACGTGTGAGGGCCAAGGCTGCCCGGGGGACGGGAGGCTGGCAGGCCAGAGTGGGCCCCAGTGAGCACACCTCCCTCTTGCCCGCCAGGCACTTTGGCCAGAGGCACCGGCTGCTGCTGGAGACGCTGCCGGAGCTCACCTTCCTGCTGGGACTCTTCGGTTACCTCGTGTTCCTAGTCATCTACAAGTGGCTGTGTGTCTGGGCTGCCAGGGCCGCCTCGGCCCCCAGCATCCTCATCCACTTCATCAACATGTTCCTCTTCTCCCACAGCCCCAGCAACAGGCTGCTCTACCCCCGGCAGGTGGGCTGCGGCTGGTGGGGGCCGGGCTCACACGGCCTCATGGGGACCCCGCGGTCACAGGGCCACTGGGAGCTGCAAGATCCTCGTCCGAGAAACGGGGATGCAGGCCCCGGGCCGTGCAGACAGGGCCGTCAGAGGTGATGGTGTGCATCTTTAGCAGGTGGCACAACTGGCACTGGGAACCGGGGGTCCCTTCCCTCAGGAGTCCTTATGGAGGCAGACCCTCACCCAGTGAGGGCACGGAGCCCCCGGGGGCCCTGGAGGGAGGAGCGACCGCAGGCTCTCTGGGCCCCGTGACTGCTGTGACTCAGGTTCCTTTGCAGGTGTGCACAGCAGGGACGCCCTGACTCTCGCCCTCTCCCTGGCAGGAGGTGGTCCAGGCCACGCTGGTGGTCCTGGCCTTGGCCATGGTGCCCATCCTGCTGCTTGGCACACCCCTGCACCTGCTGCACCGCCACCGCCGCCGCCTGCGGAGGAGGCCCGCTGACCGACAGGTGGGACCGGGGCCTAAGGTGTGGGGGGCTGCTTGCGGGGAGAGGCCACTGTCCGGTGTGTCCCTGACTCCTCGCTTCCTGACAGACTCCTGAGTGGCCAGGAGCAGGCCTGGCGGGTGGTGGGGGACCTCCTGGGGCTGGAGTGCTGCCAACACTGCCTGCTCATGCCCCAGGAGGAAAACAAGGCCGGGTTGCTGGACCTGCCTGACGCATCTGTGAATGGCTGGAGCTCCGATGAGGAAAAGGCAGGGGGCCTGGATGATGAAGAGGAGGCCGAGGTGGGTGCAGTGCCTTCCTGGGGGTGGGACGGCTGAGGCCCTGCCGGCCCTCACTGCACCCGCCCCGCAGCTCGTCCCCTCCGAGGTGCTCATGCACCAGGCCATCCACACCATCGAGTTCTGCCTGGGCTGCGTCTCCAACACCGCCTCCTACCTGCGCCTGTGGGCCCTGAGCCTGGCCCACGCCCGTGAGTGACCTGGCCACCGACGGCTGGCCCCAGCTCCTGGCTTCTCACATACCGCTGCTGGCTGGGCGGGTTGCTTCTCTCTGGGCCTCAGTTTCCCCTCTGTAAAGTGGGACTGTCCAAGGAGGTCCCTCGCTGGCCCCCCGTGCAGGGAGGGCTTCAGGCTGCGGCAGGTAGGTAGGGGGCTGGCAGGCACCCACTTGCCGTTGGCCCCCACTGTCTCCTTTGCTTGCAGAGCTGTCCGAGGTTCTGTGGGCCATGGTGATGCGCATAGGCCTGGGCCTGGGCCGGGAGGTGGGCGTGGCGGCTGTGGTGCTGGTCCCCATCTTTGCCGCCTTTGCCGTGATGACCGTGGCTATCCTGCTGGTGATGGAGGGACTCAGCCTTCCTGCACGCCCTGCGGCTGCACTGGTGAGCGACCACCCACTGGCCTGGGCTGCTCAAGGCGTGAGTTCCCCTCACCAACCCCTCTGCTTCTCACCCCCAGGGTGGAATTCCAGAACAAGTTCTACTCAGGCACGGGCTACAAGCTGAGTCCCTTCACCTTCGCTGCCACAGATGACTAGGGCCCACTGCAGGTCCTGCCAGACCTCCTTCCTGACCTCTGAGGCAGGAGAGGAATAAAGACGGTCCGCCCTGGCAGTGATGTCTCGTCTCTCTTCCCTCCTTTTTAGCTGAGGCAGGTGGCAGGGTAGAAGGCATGGTGTAGGATCTGGGACCTCAAAAGTCAAGGCCTGGACCTGAGCAGATCTGCAATAATGTCAGACTCTTGGGGTGAAAAGGGGCAGAAAAGGGCCAAGGAGAGATGTTTCCAGCACATTCTAACTTGGAGTGAGCAAATGTCTTCCCAGGCCGGGTCAGGGGAGTGAGCTCCCCATCCTTGGAGGTGTGCACCTGGCTGTGAGCGGGTGTCTGGGTTACTCTCTGTTGGGAGTGGTGCCAATATCCATGCCCTGGTGCCGGGCCTCAGGGGTCTGGAAGTACAGAGCAGTGTGGGGCACCTGAGCCCCGGCCAGTGCTCCATGCAGGGCCATGGTGTCACACGCCCAAGGCCACACACCTGCCAGGAAGGGTAGAGGCTGTCCCCAGCAGCAGACATTACCCAGGACCCCGGGGTTCAGAACAGGGGCTGAGCCTGACTCCAGGCCCAGCCTCCCCTCACCTGAGACTACAGTCTTCCTGATCCCTCCCAGGTGGTCCTTCCTGCGTTGCTGGCAGAATGGGGGTGGCTTTCTGCAGTTCCCTCTGGCCTGGGTCCCACCCCCACTGGGAGGCAGAGGAAGTGCTTCCCAGAAGCCAACAAGCTGCAAAGTGGTTCTTCCCACAGCTGTGGCTGAGGCCAGCTGCTGGGAGGAGCCTGTCCATTGGCTCCTGGACTGCTTTGCTCAGGACCTCTGGATGCCAGGGGTCGTATCAGGGGCTCTAAGGTAATTCCACATGCCCAGCAGATTCAGCTTAGAGAAACGGTGCTCACAGTGCTGGGGTAGGAGCAGAGAAGGCTAAATGAAGGACTCCGGAGAGCTGCAGGTGGATCTGGACCAAATCCAGAACCCAACGCCTTACTCCCTCCTGGGGAGAGAGCTGGGCAGAGACTTGGGGCGGGCAGTGAGGTGGGGATAGGTGAGCAGCACTCGTGGTGAGTGGCCCCAGTGTGATTTAGGAGGGGTGCAGTGTGGGATCCCAGGGACATGACCAGTCAGCCCCGCCCTGGCTTTGACATGGGGGTGCCTGGCAGTGGTGGCTAGAGAAGTCCAGTTTGCCAAGAGAATGGCACATAAGGCACTGGGGTGGGCACCTCTGGGGCATGGACATAGGGAGACATAGGGATGGGGTGGGTCACCTGCGTGGAGGACTGGGCACTGAACAGCACAGGCCCGAGCCCATCCTTGTCCACGTGAGCTTATGGCCTGATGTAGAGACCACCAGGGGCTCCAGGAAAGTTAAGCTGCATGGAGAGAAACGATGGGCCAGGGCCGGGCCCAGGGTGGTTTAGGGAATGGCAGTGTCCTGGGTAGAATAGGAAGGCCTGAGACTGTGACTGAGCTGACAGTGGGGCAAAGTGAAGGAGCCCAGTATTGGAAGATCGGCTCCACATGTATCTCTGCGAGGAGACTGCAAGCGAGCTCGTGTGGACCAGGCAGAGGCGAGGGCTGAGTGAGGCCAGCAGTGGCCTGGGCACAGGAAGACGGTGAGTGAGAAGCCACTGGAGCTCCTGTGCAGGAGCGCAACACCTTTACTGCTTCATTCAGTTTGGCTTCACCTGCTTAAAACTGTAACTCTCTAGAAGGCTGAACAGCAAAAGCCTCCCTCCTGCCCAGCCGCTCAGCATCCCCAGGCACCAGCACTGCTCCCAGTCTCCAACGTCCTCCAGGGCTCTTCGCTTCTGGGCTAGAAGCAGGGAAACCAGAGTGTGCTGGGGAAGANN | pathogenic | 179,655 |
Mutation found at chromosome 11 position 68157920, gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Intellectual_disability,_autosomal_dominant_51'] | GACTGCACCACAACAAACAAGGATGAGACTATGTAAGACTGCAGAAGTAGTTCCTTAGAGAACCAGGAGAAAACAATCTACTTTCTAAAAATGTTCATGAGTCTTAATTTCTATTTGGAACCTATGGGCAATCAACAGTCTTAAGGAGCGTCATTGAAACAATATCCCCCCAAACCTGGAAACTAGTAGGAATCAATTAGTAGTAACAGTAAGCATTGAGATTTTCTCCACTGGACTTTTCATGACCTTCAGATTCCTTTTCATATTTCAAGACATGGGCTACTTTCCTATAGACACTATACAAATCCCCTGAATTGATTTTTACTTAGGAACACTGTATATCAGAAAGTACAGGTACACATTTCCCAGAAATAAAGAGACCTACTGGTGTCAAACACCTGTTACAGATTTATATTCCCAAATTCTCTGTCCAATGATTTGCAAAATAATCCAGAGAAATGAAAAGAACCTGGTATTGAACATAAAGTAGTAATAAAAATTTGCTCATTAAGTTAATTAAAATTAATTTCTCAAAGTGCTTCAAAAAACAAATTAAATCTGACTCCTTTTTGTTTAACTGATAATATAGTCAAAAAAATCTTTGATGTTTTCATAATAAACTAACATAAACTAACATAAGCCAAGAACTCCCACTGATGCAGTGCTTAAAACTATATATTTATAATTTCCTATTTTATTGGCATGAATATTTCTAAACTTAAAAACCTTCCTGGTAAGTTCTTTTAATTTCTTATGACAAAAATTTCTCACAACACACAAATATTTACAACATATACATTGTTTTCAGTTCTTTACATTGAATCTCAAAGACAAACTTTTTTTATAGGTTACCACAGAACAAAAGCTGTGACTCATGTTTTTATTTCATAAACTATTATAAGTTAAAGTGAATAGATTTTTTTAATATTCCTTGTAGCATTTTACAAGTGCAACAGAAAACTTGAAGAACCAAATTAAGATAGCTGTAGTTCATTAGATAAATGTTGCTTGTTGTCATCACGTTGTTCACAGCAAATTTTTGAAAAAATAAGCACCAATCATTCTTGCAAAGAACAATTTTATCTAAAAGGATTGAAAAGAGTTAAATACAAGGTTTTTAATTTACATGACAAGCAATAAATACGCTGTATCGAACCTCATCCCACACACTGCTACCCTCGTACATATAATGAACTGAAAAGTGAGCTGTCACGTATGTCATTTTTTTTTTTTTTTTAAGAAACCAATCTGACTCCCAACCAATGGTTTGCGATATTAACAAAGGCCACAAACAGTACACCTGGGCCAGCAAACAGTGTGAAACTGACAAAACTCCAAGGGGGAAACATCTAGCAAATAAATCAAAAAGCCAAAGATCATTGCTGGTGATATTAGCATACTAGAAACCCTTAATATGCTGCTACTATGATTTGTTTTAAATTATTGTTTAGTCATATATTAAAGAGCCAGCTGATGCTCTTACAGTTAAAAAAACTGTGTAGCCACATTACTGTTTTCAACGTCCTGTGTGGAAAGTTGCTATCACTGTACAATTTTGCTTGAGCCTTTATTTTACAACAGGGCTTTACCTCTAACTCAGAATTGCACGTAAGAAGGCTATTTAAAAAGTACGATAAAAATTTGCACAAATCAGACTTAAGAATTGAGTCAGTATGCTGTACACTTTCTACAATAGTATGCTGATAAGTGAAGGGACAATAGAAGTGCTGCCACTAAACTTTCAGTTGAGGAATAATTGACTGGAATTTTTTATTTCTTTAAAGTAGTTATCCCAGGTCAAGTTAAGACCAAGAGCTTAGGCATTAAGCCTTAAAGACTGATCTTCTCTTCTCCTTGAAGAAATGTCAATATCTATAGAGTCTTTTCCAACTATTAACCTCAAGCGCTTAGCTGGAGGAAGAGGAATAAAATCGTCTTCAAAGTCATCATCATAGTCATCCTCCTCTTCATCGCCCTCAGAAGAGGAGGAATCATCTGTACTTTCTTCCTCATACTGACTATAGTCATCCACCTCCATTCGAGACTCCAAGAGAGAAAGAGGATCACTGCAGCACACCCCATTTTCATGAAGCCCCTCTGTATAAGACCCCCTATTTTCCTCATCTCGTTTTAGCTGGATTTTTAATTTTGTAGAACTACTGCCTGATCCTGAGTTAAATCCATTATTAAGCTTTGCTACATAGAGATTGTTATCGTTGTCATGGTCTTTGCTTAACTTGATGCTTATTTTGGAAGAGTTCATTCCATCATTCTCTTGGTCATTTGTTTTGCTGCTGCTATCATGACGCCTACGAAGAGTCAATTTGGGAATCCCAGAGTTATTTTCTAGGATTAACTGTGCATCATACCTTGTGATTCGCCTCTTCTTTTTACTTTTTGCAGTTCTAAAGCTGTCTTTTGTTTTGAAGCTATCTGATGTCACAACTGAACAACCGACGGGTGAAGGAGCACAGTCTGTGTAGCTCACAGGCACGCCCACAGTGCCACTGTGCTCACCCTGGTCAGAATGGGGACCCATCAAATCTGGTACCGCGTCGTCTTTTCCAGGAGAATCGTGCACTGGAGTAGATTCCTCTATTTTTGCAAACTGTTTCACAAGTTTTCCTTGTCGTGACTTCTTTTTGGACATGCCTGTGTCACTCTTATGACACTTTGCCTCCCCTTTTTGTGCAGTCTCATGAGCCAGTTCTTCCTCCTGCAGCACAGGAGCTGGCTGCAGCTGTTCACCACTGTCGGGGCAAGGTTCCGTCACACTGCTTTTATAGCCATTCAACGTATTTGGTTCAAGCTTGATGTCAGAGGCCTCCTTCAGATTTGTTCTTGTCCTCACTGACCGCCGAGTTATGTAGGTGCAGGGCGAGCTCTCCCCCTGCGAATGAGCACCTCTCACAGGATTCTGTCTGTGTTCTCTCGCCGCGTGTCTAGTCAAGCACCCGCTGGCAACTGCGGCTTGGGCTGGTCCCTCTGGCTCCTTATCTTTTTTAATGGGCAAATTTTTATACAGAACTACTTTAGGCTCTTTCAGTACTAAGTTTCCCATTTCGAGTTTTCTTGAAGCATTCTTTTGCTCCAGCCGCTTGCAATGATTTCTCAATTTTATCTTTGAAAGTAAAGGCTTTGCAGGCTTCTTCAGTTTCTTTGGTACCCTGGAATTATTTATATGAGTTAGCTTAGATGAGGTAGAGTTGGAAGAAGCTGGAATTCTTGACATAGATTGCCTCGTTAACGTTCTGCTCTTGCTATTCTTTTTTACGCCAACTGAAGATTTTCGGTTAGAAGCTGTAAGGTTAAAGAGAAAAAGGTGAAAAGCCTTGGTAACAGCAGAGTTCAAGAAAAGAATGCCCAAACCCAGGCTATTAGCTACAGCACGTTTAGATTACACAAACGCCAACACCACGGCTCCTGCTGCAGATTCTGCCAGCGCACCTGCATTCCCTACACTGCTTCTCTTTGAAGTTCTTTTCTAATTTATGGGGCATCTATTCATTTTTGAGGTAAGTAGTTGCACGGTTAAGGAGCTTTTCACAGCAGGGACCTAGATTCCACTCTAAGCTTCTTAATCTGTCGTGACACTGGCCCAAACGAACGCTTTCTTCTCCTGATTTAGTAGTTTCCCACATAAAAGATTTCAAAGAAAGTTAACATGGTTTTTTCCTTTCACAGATTCTCCTTAGTCATTTAAAATGTTTCTAAAATCCATTGCTCATTAACCTAAAGGAAGTACAGCACTTGGCCATTAACATAGAGTAGAAATAGAATACTCATGGGCTCTAAGGAACAAATTCTATCGCAATGGTTTCAAACAAGAAAAACAGATGCTAAGAACCATATATTATCACTCTGAAAAGTACAGTCACTACCGAAAAAGAAATGCACTATTCTAAGTTGTCCCCTTCAACTCCGTGAGGAACAGAAGAGGCAACCAGTGGGCTGTCAACTTAGAAGAGCTGCAAAGCTTACTCAGCCCCATCCCTTCAGTGACGGCCAGATGCCAACAATCACAGTGAAGGAAGATGCACGCTGCTAGAATTGTACACTCTCAGGACAAAGGGAGATCCAACTTCTTTCCTCCAAG | GACTGCACCACAACAAACAAGGATGAGACTATGTAAGACTGCAGAAGTAGTTCCTTAGAGAACCAGGAGAAAACAATCTACTTTCTAAAAATGTTCATGAGTCTTAATTTCTATTTGGAACCTATGGGCAATCAACAGTCTTAAGGAGCGTCATTGAAACAATATCCCCCCAAACCTGGAAACTAGTAGGAATCAATTAGTAGTAACAGTAAGCATTGAGATTTTCTCCACTGGACTTTTCATGACCTTCAGATTCCTTTTCATATTTCAAGACATGGGCTACTTTCCTATAGACACTATACAAATCCCCTGAATTGATTTTTACTTAGGAACACTGTATATCAGAAAGTACAGGTACACATTTCCCAGAAATAAAGAGACCTACTGGTGTCAAACACCTGTTACAGATTTATATTCCCAAATTCTCTGTCCAATGATTTGCAAAATAATCCAGAGAAATGAAAAGAACCTGGTATTGAACATAAAGTAGTAATAAAAATTTGCTCATTAAGTTAATTAAAATTAATTTCTCAAAGTGCTTCAAAAAACAAATTAAATCTGACTCCTTTTTGTTTAACTGATAATATAGTCAAAAAAATCTTTGATGTTTTCATAATAAACTAACATAAACTAACATAAGCCAAGAACTCCCACTGATGCAGTGCTTAAAACTATATATTTATAATTTCCTATTTTATTGGCATGAATATTTCTAAACTTAAAAACCTTCCTGGTAAGTTCTTTTAATTTCTTATGACAAAAATTTCTCACAACACACAAATATTTACAACATATACATTGTTTTCAGTTCTTTACATTGAATCTCAAAGACAAACTTTTTTTATAGGTTACCACAGAACAAAAGCTGTGACTCATGTTTTTATTTCATAAACTATTATAAGTTAAAGTGAATAGATTTTTTTAATATTCCTTGTAGCATTTTACAAGTGCAACAGAAAACTTGAAGAACCAAATTAAGATAGCTGTAGTTCATTAGATAAATGTTGCTTGTTGTCATCACGTTGTTCACAGCAAATTTTTGAAAAAATAAGCACCAATCATTCTTGCAAAGAACAATTTTATCTAAAAGGATTGAAAAGAGTTAAATACAAGGTTTTTAATTTACATGACAAGCAATAAATACGCTGTATCGAACCTCATCCCACACACTGCTACCCTCGTACATATAATGAACTGAAAAGTGAGCTGTCACGTATGTCATTTTTTTTTTTTTTTTAAGAAACCAATCTGACTCCCAACCAATGGTTTGCGATATTAACAAAGGCCACAAACAGTACACCTGGGCCAGCAAACAGTGTGAAACTGACAAAACTCCAAGGGGGAAACATCTAGCAAATAAATCAAAAAGCCAAAGATCATTGCTGGTGATATTAGCATACTAGAAACCCTTAATATGCTGCTACTATGATTTGTTTTAAATTATTGTTTAGTCATATATTAAAGAGCCAGCTGATGCTCTTACAGTTAAAAAAACTGTGTAGCCACATTACTGTTTTCAACGTCCTGTGTGGAAAGTTGCTATCACTGTACAATTTTGCTTGAGCCTTTATTTTACAACAGGGCTTTACCTCTAACTCAGAATTGCACGTAAGAAGGCTATTTAAAAAGTACGATAAAAATTTGCACAAATCAGACTTAAGAATTGAGTCAGTATGCTGTACACTTTCTACAATAGTATGCTGATAAGTGAAGGGACAATAGAAGTGCTGCCACTAAACTTTCAGTTGAGGAATAATTGACTGGAATTTTTTATTTCTTTAAAGTAGTTATCCCAGGTCAAGTTAAGACCAAGAGCTTAGGCATTAAGCCTTAAAGACTGATCTTCTCTTCTCCTTGAAGAAATGTCAATATCTATAGAGTCTTTTCCAACTATTAACCTCAAGCGCTTAGCTGGAGGAAGAGGAATAAAATCGTCTTCAAAGTCATCATCATAGTCATCCTCCTCTTCATCGCCCTCAGAAGAGGAGGAATCATCTGTACTTTCTTCCTCATACTGACTATAGTCATCCACCTCCATTCGAGACTCCAAGAAAGAGGATCACTGCAGCACACCCCATTTTCATGAAGCCCCTCTGTATAAGACCCCCTATTTTCCTCATCTCGTTTTAGCTGGATTTTTAATTTTGTAGAACTACTGCCTGATCCTGAGTTAAATCCATTATTAAGCTTTGCTACATAGAGATTGTTATCGTTGTCATGGTCTTTGCTTAACTTGATGCTTATTTTGGAAGAGTTCATTCCATCATTCTCTTGGTCATTTGTTTTGCTGCTGCTATCATGACGCCTACGAAGAGTCAATTTGGGAATCCCAGAGTTATTTTCTAGGATTAACTGTGCATCATACCTTGTGATTCGCCTCTTCTTTTTACTTTTTGCAGTTCTAAAGCTGTCTTTTGTTTTGAAGCTATCTGATGTCACAACTGAACAACCGACGGGTGAAGGAGCACAGTCTGTGTAGCTCACAGGCACGCCCACAGTGCCACTGTGCTCACCCTGGTCAGAATGGGGACCCATCAAATCTGGTACCGCGTCGTCTTTTCCAGGAGAATCGTGCACTGGAGTAGATTCCTCTATTTTTGCAAACTGTTTCACAAGTTTTCCTTGTCGTGACTTCTTTTTGGACATGCCTGTGTCACTCTTATGACACTTTGCCTCCCCTTTTTGTGCAGTCTCATGAGCCAGTTCTTCCTCCTGCAGCACAGGAGCTGGCTGCAGCTGTTCACCACTGTCGGGGCAAGGTTCCGTCACACTGCTTTTATAGCCATTCAACGTATTTGGTTCAAGCTTGATGTCAGAGGCCTCCTTCAGATTTGTTCTTGTCCTCACTGACCGCCGAGTTATGTAGGTGCAGGGCGAGCTCTCCCCCTGCGAATGAGCACCTCTCACAGGATTCTGTCTGTGTTCTCTCGCCGCGTGTCTAGTCAAGCACCCGCTGGCAACTGCGGCTTGGGCTGGTCCCTCTGGCTCCTTATCTTTTTTAATGGGCAAATTTTTATACAGAACTACTTTAGGCTCTTTCAGTACTAAGTTTCCCATTTCGAGTTTTCTTGAAGCATTCTTTTGCTCCAGCCGCTTGCAATGATTTCTCAATTTTATCTTTGAAAGTAAAGGCTTTGCAGGCTTCTTCAGTTTCTTTGGTACCCTGGAATTATTTATATGAGTTAGCTTAGATGAGGTAGAGTTGGAAGAAGCTGGAATTCTTGACATAGATTGCCTCGTTAACGTTCTGCTCTTGCTATTCTTTTTTACGCCAACTGAAGATTTTCGGTTAGAAGCTGTAAGGTTAAAGAGAAAAAGGTGAAAAGCCTTGGTAACAGCAGAGTTCAAGAAAAGAATGCCCAAACCCAGGCTATTAGCTACAGCACGTTTAGATTACACAAACGCCAACACCACGGCTCCTGCTGCAGATTCTGCCAGCGCACCTGCATTCCCTACACTGCTTCTCTTTGAAGTTCTTTTCTAATTTATGGGGCATCTATTCATTTTTGAGGTAAGTAGTTGCACGGTTAAGGAGCTTTTCACAGCAGGGACCTAGATTCCACTCTAAGCTTCTTAATCTGTCGTGACACTGGCCCAAACGAACGCTTTCTTCTCCTGATTTAGTAGTTTCCCACATAAAAGATTTCAAAGAAAGTTAACATGGTTTTTTCCTTTCACAGATTCTCCTTAGTCATTTAAAATGTTTCTAAAATCCATTGCTCATTAACCTAAAGGAAGTACAGCACTTGGCCATTAACATAGAGTAGAAATAGAATACTCATGGGCTCTAAGGAACAAATTCTATCGCAATGGTTTCAAACAAGAAAAACAGATGCTAAGAACCATATATTATCACTCTGAAAAGTACAGTCACTACCGAAAAAGAAATGCACTATTCTAAGTTGTCCCCTTCAACTCCGTGAGGAACAGAAGAGGCAACCAGTGGGCTGTCAACTTAGAAGAGCTGCAAAGCTTACTCAGCCCCATCCCTTCAGTGACGGCCAGATGCCAACAATCACAGTGAAGGAAGATGCACGCTGCTAGAATTGTACACTCTCAGGACAAAGGGAGATCCAACTTCTTTCCTCCAAGNNNN | pathogenic | 179,658 |
Evaluate the clinical significance of the mutation at chromosome 11, position 68171637 in gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability,_autosomal_dominant_51'] | CATCAACCCTACAAAATAGGTTCTGATGTTATCCCCATTTTACAGATGGGGAAATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGAGCCCACTCAGTGCTGGGAGAGGGATGGCTACGGTAGCACTGTGACTTGATGACTCCGTCCTCTCTCACCACACAGTTGGAAATCCCTGGCTATCCAGAAAGGAGGGAAATGGCAACTGGGGTATCTGCCCACTGCAACCTCTAGGCTGGCTATTTGTAGGTGTTTTAAAGTGGGAGAAGTGACACTAATAACTCTGATCATAACTCCAAAAGCAATATGAAGTGGAAAGAATGAGGACTCTGAAGTTAGGCTGACTGGGGTCTGATACTTATGTTCTGGTACTCGCAATGTGGGCACCTCCTAGCTCTCTCATGAATATCTGTGAGAACTGAACAAGGTGGTGTGAGTAAAGTGCCTGGCACAGTGCAAGATGTGCAAAATGGACTCCAGGTTTCCTTCTCTGTGGCCTGTGTGGTCTGTACTGCCTTTGAGGGGACTCTTCCTGCAGCCCTTGCCTGCCTGAGCCTGTGACGCTCCCTTCATGGTGCTCTCACACACAGAAGTCACTATAATGAGCAATATGAACTGGTGGTCCTGCCAATGAAGATCTGGGGGATTTCTGTAAAGACTCCAGGACTCTTGATGAGACATAAGAAGAGGTTCCTTATTGAATGACTGATATCAGGGAACAACTCTTAAGAACTGTGAAACCAAAATTCCAGAAGACACAGCTTGATAATATGCAAGACGACTATCAGTGGTGAACTCCACTTGACATTTTGAGTAGCGGCAACCCCATTCTGGCATTGCGTGTGTGCATGTGTGTGAGCTATTAACCATTCTCTCCTTAAGCACATCTGTATTCTGGCCCACTCTTAGCTGGTAATATTAAGATTTTAAAGGGAAATTTTAAATTTATTGAGGGACATTCCAATGTCCCTAAATAGCTGTGCAGCATTTGACTTTGTTCATACACACTGCACCAGCCGCTATGCTAAAGAACATAAAGACTATCTCTGCATTTAAACAACAAAGAGATAATGTGAGTTTAATCCCCATAATCAGGTTGTTAACAAAAAATGTTTAGGCTGAACATTTTACTTAATACCTTACCTTTCGCAAGTGTAACACTCGCAGAACTCATTATTTTCTCCAAAGAACCCATCTCCATAATAACAAGAAATTTCTTCTCCAGGTTCAATGTCTCTTAGAGCCTTCACACATGCTGTATCTCGACCAGTTGACACAAACTAAAATAAAAGTAACTCAGTAAGAAACTCACACCTGAAGCAAAAACAAAATACTTGAAGAAAATTTTTTTAATGCTTACCTTACAATTAGGTCTGCAATCTGAAAAATGTCCAAAAGATAAAGTCAATTAACTGTTGATAAGATCTGAAACACGAACAATTATAGAAATCTGAAATAAGCTTTCCATATAACTTTACAACTTTTGATAGGAGTTTAGGTCTCAAGTTCAACTAAAGGAATATACATTTATTTTAATAAGTTTGTGGAAACATTTCTATTTCAAATTCTCCTTTAAAGGAAGATAAAGGTTTGACTGAGGTTGACAAGGCCATTCTAGCAGTTAGCAGGAATGGCCAACACTAGCGCCAACACCTTGGAAACACAGCTTACCATGGTTTATAAACGCAGCAGGACCCAGCCAGAGTTGAGCACAGTTTTTCCTTGTGGAGTACATGACACTGAAGTCGTTTTCTCCATGTCTAAGTAGCATGTTCTCCTCAATTTCTGAAAGTTCGGCAATACAACCCACCAGTAATTCTATTTTGTCATTTCGTTTCCTATTTAAAATATGTGATGTGTTAAAAATTACTAGTAATTAAATATAGTAAGGCTTCTTTTAATAAAATAATCCTGACAATAAATATCAGAAACTGAAAAGGCCTAGCTGTCTATACTTTAGTTAGCTCACTGGGATCCCCACCTGGCTATCTTCTCTCCTACCCTGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCA | CATCAACCCTACAAAATAGGTTCTGATGTTATCCCCATTTTACAGATGGGGAAATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGAGCCCACTCAGTGCTGGGAGAGGGATGGCTACGGTAGCACTGTGACTTGATGACTCCGTCCTCTCTCACCACACAGTTGGAAATCCCTGGCTATCCAGAAAGGAGGGAAATGGCAACTGGGGTATCTGCCCACTGCAACCTCTAGGCTGGCTATTTGTAGGTGTTTTAAAGTGGGAGAAGTGACACTAATAACTCTGATCATAACTCCAAAAGCAATATGAAGTGGAAAGAATGAGGACTCTGAAGTTAGGCTGACTGGGGTCTGATACTTATGTTCTGGTACTCGCAATGTGGGCACCTCCTAGCTCTCTCATGAATATCTGTGAGAACTGAACAAGGTGGTGTGAGTAAAGTGCCTGGCACAGTGCAAGATGTGCAAAATGGACTCCAGGTTTCCTTCTCTGTGGCCTGTGTGGTCTGTACTGCCTTTGAGGGGACTCTTCCTGCAGCCCTTGCCTGCCTGAGCCTGTGACGCTCCCTTCATGGTGCTCTCACACACAGAAGTCACTATAATGAGCAATATGAACTGGTGGTCCTGCCAATGAAGATCTGGGGGATTTCTGTAAAGACTCCAGGACTCTTGATGAGACATAAGAAGAGGTTCCTTATTGAATGACTGATATCAGGGAACAACTCTTAAGAACTGTGAAACCAAAATTCCAGAAGACACAGCTTGATAATATGCAAGACGACTATCAGTGGTGAACTCCACTTGACATTTTGAGTAGCGGCAACCCCATTCTGGCATTGCGTGTGTGCATGTGTGTGAGCTATTAACCATTCTCTCCTTAAGCACATCTGTATTCTGGCCCACTCTTAGCTGGTAATATTAAGATTTTAAAGGGAAATTTTAAATTTATTGAGGGACATTCCAATGTCCCTAAATAGCTGTGCAGCATTTGACTTTGTTCATACACACTGCACCAGCCGCTATGCTAAAGAACATAAAGACTATCTCTGCATTTAAACAACAAAGAGATAATGTGAGTTTAATCCCCATAATCAGGTTGTTAACAAAAAATGTTTAGGCTGAACATTTTACTTAATACCTTACCTTTCGCAAGTGTAACACTCGCAGAACTCATTATTTTCTCCAAAGAACCCATCTCCATAATAACAAGAAATTTCTTCTCCAGGTTCAATGTCTCTTAGAGCCTTCACACATGCTGTATCTCGACCAGTTGACACAAACTAAAATAAAAGTAACTCAGTAAGAAACTCACACCTGAAGCAAAAACAAAATACTTGAAGAAAATTTTTTTAATGCTTACCTTACAATTAGGTCTGCAATCTGAAAAATGTCCAAAAGATAAAGTCAATTAACTGTTGATAAGATCTGAAACACGAACAATTATAGAAATCTGAAATAAGCTTTCCATATAACTTTACAACTTTTGATAGGAGTTTAGGTCTCAAGTTCAACTAAAGGAATATACATTTATTTTAATAAGTTTGTGGAAACATTTCTATTTCAAATTCTCCTTTAAAGGAAGATAAAGGTTTGACTGAGGTTGACAAGGCCATTCTAGCAGTTAGCAGGAATGGCCAACACTAGCGCCAACACCTTGGAAACACAGCTTACCATGGTTTATAAACGCAGCAGGACCCAGCCAGAGTTGAGCACAGTTTTTCCTTGTGGAGTACATGACACTGAAGTCGTTTTCTCCATGTCTAAGTGCATGTTCTCCTCAATTTCTGAAAGTTCGGCAATACAACCCACCAGTAATTCTATTTTGTCATTTCGTTTCCTATTTAAAATATGTGATGTGTTAAAAATTACTAGTAATTAAATATAGTAAGGCTTCTTTTAATAAAATAATCCTGACAATAAATATCAGAAACTGAAAAGGCCTAGCTGTCTATACTTTAGTTAGCTCACTGGGATCCCCACCTGGCTATCTTCTCTCCTACCCTGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCAN | pathogenic | 179,667 |
Regarding the variant at chromosome 11 and position 68171690, affecting gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Intellectual_disability,_autosomal_dominant_51'] | ATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGAGCCCACTCAGTGCTGGGAGAGGGATGGCTACGGTAGCACTGTGACTTGATGACTCCGTCCTCTCTCACCACACAGTTGGAAATCCCTGGCTATCCAGAAAGGAGGGAAATGGCAACTGGGGTATCTGCCCACTGCAACCTCTAGGCTGGCTATTTGTAGGTGTTTTAAAGTGGGAGAAGTGACACTAATAACTCTGATCATAACTCCAAAAGCAATATGAAGTGGAAAGAATGAGGACTCTGAAGTTAGGCTGACTGGGGTCTGATACTTATGTTCTGGTACTCGCAATGTGGGCACCTCCTAGCTCTCTCATGAATATCTGTGAGAACTGAACAAGGTGGTGTGAGTAAAGTGCCTGGCACAGTGCAAGATGTGCAAAATGGACTCCAGGTTTCCTTCTCTGTGGCCTGTGTGGTCTGTACTGCCTTTGAGGGGACTCTTCCTGCAGCCCTTGCCTGCCTGAGCCTGTGACGCTCCCTTCATGGTGCTCTCACACACAGAAGTCACTATAATGAGCAATATGAACTGGTGGTCCTGCCAATGAAGATCTGGGGGATTTCTGTAAAGACTCCAGGACTCTTGATGAGACATAAGAAGAGGTTCCTTATTGAATGACTGATATCAGGGAACAACTCTTAAGAACTGTGAAACCAAAATTCCAGAAGACACAGCTTGATAATATGCAAGACGACTATCAGTGGTGAACTCCACTTGACATTTTGAGTAGCGGCAACCCCATTCTGGCATTGCGTGTGTGCATGTGTGTGAGCTATTAACCATTCTCTCCTTAAGCACATCTGTATTCTGGCCCACTCTTAGCTGGTAATATTAAGATTTTAAAGGGAAATTTTAAATTTATTGAGGGACATTCCAATGTCCCTAAATAGCTGTGCAGCATTTGACTTTGTTCATACACACTGCACCAGCCGCTATGCTAAAGAACATAAAGACTATCTCTGCATTTAAACAACAAAGAGATAATGTGAGTTTAATCCCCATAATCAGGTTGTTAACAAAAAATGTTTAGGCTGAACATTTTACTTAATACCTTACCTTTCGCAAGTGTAACACTCGCAGAACTCATTATTTTCTCCAAAGAACCCATCTCCATAATAACAAGAAATTTCTTCTCCAGGTTCAATGTCTCTTAGAGCCTTCACACATGCTGTATCTCGACCAGTTGACACAAACTAAAATAAAAGTAACTCAGTAAGAAACTCACACCTGAAGCAAAAACAAAATACTTGAAGAAAATTTTTTTAATGCTTACCTTACAATTAGGTCTGCAATCTGAAAAATGTCCAAAAGATAAAGTCAATTAACTGTTGATAAGATCTGAAACACGAACAATTATAGAAATCTGAAATAAGCTTTCCATATAACTTTACAACTTTTGATAGGAGTTTAGGTCTCAAGTTCAACTAAAGGAATATACATTTATTTTAATAAGTTTGTGGAAACATTTCTATTTCAAATTCTCCTTTAAAGGAAGATAAAGGTTTGACTGAGGTTGACAAGGCCATTCTAGCAGTTAGCAGGAATGGCCAACACTAGCGCCAACACCTTGGAAACACAGCTTACCATGGTTTATAAACGCAGCAGGACCCAGCCAGAGTTGAGCACAGTTTTTCCTTGTGGAGTACATGACACTGAAGTCGTTTTCTCCATGTCTAAGTAGCATGTTCTCCTCAATTTCTGAAAGTTCGGCAATACAACCCACCAGTAATTCTATTTTGTCATTTCGTTTCCTATTTAAAATATGTGATGTGTTAAAAATTACTAGTAATTAAATATAGTAAGGCTTCTTTTAATAAAATAATCCTGACAATAAATATCAGAAACTGAAAAGGCCTAGCTGTCTATACTTTAGTTAGCTCACTGGGATCCCCACCTGGCTATCTTCTCTCCTACCCTGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCATTGGCTACTTCAGGGTAAACTCTGGCTTCATTCCTTACCATGAATTTCTCAGC | ATTAAGGCACAAAGCAGCTAAGTGACTTACCCTACACATCACATAGCTAATGAAATGCAGAGTTGCAGGATTCCAACCCAGGCAGTCTGATTTCAGATGATAGGCACTTAACTGTTATACTGTTTCCTCTACAAAATGATTTTGAAGAATTATTGAACTATAATTAAACTACTTTAAAGGGTATTCTCTGGACTGGTCCAAGATCTAACCAACATGTGAATAATTTTTATGTAGAAAAAGATAAATTTTATGTCCCTCTGCCCTGGTAAAAATTCAGCAGCACTAGGAACTGGTTTTCTGCCACATCTTTATGGCAAGGAGCCCACTCAGTGCTGGGAGAGGGATGGCTACGGTAGCACTGTGACTTGATGACTCCGTCCTCTCTCACCACACAGTTGGAAATCCCTGGCTATCCAGAAAGGAGGGAAATGGCAACTGGGGTATCTGCCCACTGCAACCTCTAGGCTGGCTATTTGTAGGTGTTTTAAAGTGGGAGAAGTGACACTAATAACTCTGATCATAACTCCAAAAGCAATATGAAGTGGAAAGAATGAGGACTCTGAAGTTAGGCTGACTGGGGTCTGATACTTATGTTCTGGTACTCGCAATGTGGGCACCTCCTAGCTCTCTCATGAATATCTGTGAGAACTGAACAAGGTGGTGTGAGTAAAGTGCCTGGCACAGTGCAAGATGTGCAAAATGGACTCCAGGTTTCCTTCTCTGTGGCCTGTGTGGTCTGTACTGCCTTTGAGGGGACTCTTCCTGCAGCCCTTGCCTGCCTGAGCCTGTGACGCTCCCTTCATGGTGCTCTCACACACAGAAGTCACTATAATGAGCAATATGAACTGGTGGTCCTGCCAATGAAGATCTGGGGGATTTCTGTAAAGACTCCAGGACTCTTGATGAGACATAAGAAGAGGTTCCTTATTGAATGACTGATATCAGGGAACAACTCTTAAGAACTGTGAAACCAAAATTCCAGAAGACACAGCTTGATAATATGCAAGACGACTATCAGTGGTGAACTCCACTTGACATTTTGAGTAGCGGCAACCCCATTCTGGCATTGCGTGTGTGCATGTGTGTGAGCTATTAACCATTCTCTCCTTAAGCACATCTGTATTCTGGCCCACTCTTAGCTGGTAATATTAAGATTTTAAAGGGAAATTTTAAATTTATTGAGGGACATTCCAATGTCCCTAAATAGCTGTGCAGCATTTGACTTTGTTCATACACACTGCACCAGCCGCTATGCTAAAGAACATAAAGACTATCTCTGCATTTAAACAACAAAGAGATAATGTGAGTTTAATCCCCATAATCAGGTTGTTAACAAAAAATGTTTAGGCTGAACATTTTACTTAATACCTTACCTTTCGCAAGTGTAACACTCGCAGAACTCATTATTTTCTCCAAAGAACCCATCTCCATAATAACAAGAAATTTCTTCTCCAGGTTCAATGTCTCTTAGAGCCTTCACACATGCTGTATCTCGACCAGTTGACACAAACTAAAATAAAAGTAACTCAGTAAGAAACTCACACCTGAAGCAAAAACAAAATACTTGAAGAAAATTTTTTTAATGCTTACCTTACAATTAGGTCTGCAATCTGAAAAATGTCCAAAAGATAAAGTCAATTAACTGTTGATAAGATCTGAAACACGAACAATTATAGAAATCTGAAATAAGCTTTCCATATAACTTTACAACTTTTGATAGGAGTTTAGGTCTCAAGTTCAACTAAAGGAATATACATTTATTTTAATAAGTTTGTGGAAACATTTCTATTTCAAATTCTCCTTTAAAGGAAGATAAAGGTTTGACTGAGGTTGACAAGGCCATTCTAGCAGTTAGCAGGAATGGCCAACACTAGCGCCAACACCTTGGAAACACAGCTTACCATGGTTTATAAACGCAGCAGGACCCAGCCAGAGTTGAGCACAGTTTTTCCTTGTGGAGTACATGACACTGAAGTCGTTTTCTCCATGTCTAAGTAGCATGTTCTCCTCAATTTCTGAAAGTTCGGCAATACAACCCACCAGTAATTCTGTCATTTCGTTTCCTATTTAAAATATGTGATGTGTTAAAAATTACTAGTAATTAAATATAGTAAGGCTTCTTTTAATAAAATAATCCTGACAATAAATATCAGAAACTGAAAAGGCCTAGCTGTCTATACTTTAGTTAGCTCACTGGGATCCCCACCTGGCTATCTTCTCTCCTACCCTGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCATTGGCTACTTCAGGGTAAACTCTGGCTTCATTCCTTACCATGAATTTCTCAGCNNNNN | pathogenic | 179,668 |
Clinical classification of chromosome 11, position 68173923, gene KMT5B (lysine methyltransferase 5B): benign or pathogenic? Disease(s) if pathogenic? | benign | TGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCATTGGCTACTTCAGGGTAAACTCTGGCTTCATTCCTTACCATGAATTTCTCAGCACTTCAACAATAATTTAGAAGAGAACTTTAAATTAAATTAAAGGCTTATACTAGTAGAATAGTTACCACTCTTTTGTTGCAACTATTTTGGCTCCATTTTGTTCTGATGAGTATCTATTACATGGCAATATTTCAAATCCACTGTCAGTTGCAAACATTCGCAAATAAATAAATACCTAAAACAGGAAAAAAAAATTGATAATGACTTTAAATGGTATACCCTGCTAGACTTTCTTACAATTATAAAAGCAAACCACCCGCAATGATGAAAAAAATGTAAGATCTAGCCTGAGCAACATAGCGAGACCCTGTCTCTACGAAAAACATTAGCCAAGCATGATGGCATGTACCTTTAGTGCCAGCTACGTGGGAGGCTGAGAGGAAGAATCACTTGAGCCCAAGAGATGGAAGCTGCAGTGAGCCATAATCAGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGCCTCTAAAAAAACAATAAAATAAACAAAAAAAGTAAGATCATTAGGTAACAAACTTTATTGTTACTCAAGAGTTTTGAATGTCACAATTTTTCTCATTTTGCAATATTTGCATTACAGTAACTAGCTGAACACCTCTAAACAAAAAATTCAAAATCCTCCCATGAGCATTTCCTTTGAGTGTCAGGTCGGTGTTCAAAAAGTTTCAGATTTTGGAGCATTTCAAATTTTGGGGTTAAGGGTACTCACTCTGTATGAGTACCTAATGGCTTGTTTCCCTTAAGGCTCATAATGAATTTCACCTCTATATGACAAAGTTTTCTCTCCTTTTTTGGTTTTAGAGACAGGGTCTTGCTCTGTCTCCCAGGGCTGGAGCGCAGTGGCATGATCATAGCTCAGAGCAGCCTCTAACTCTTGGGCACAAGCAATGCTTCTGGCTCTGCTTCCTGAGTAGCCGGAACTACAAACTACAAAGGTACACACTACTATGCCTAGCTAATTTTTTTATTCTTATTTTTTTAGAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCGAAGTCCTGGCCTCAAGCAATACTCCCATCTTAGCCCCCACAAAGTGCTGGGATTACAAGCATGAGCCACTGAGCCTGGCCCAGTTTTTTCTCTGGACTGTCATCCAAATGACTGTATGTGTTACAAGATCTTCAGACTGATTAGTTTTATGAAAAATAAATTTAAAATTTCAGTATTAACTAACATTTAGGGTTTTAATTTACTTCACTATTCTTATCCAAATAGGTTAACAGCATCAGTCTTAATAAACTTACATGTTCTTTGAATAATTTCTCCTGCATTTTATTCTTGTTGAGAAAATAGTGCCGTGCCCATTCGCCTGAAGTCAAACATTTGAAGGCTTTCTCCAAGTGTTCATCTTTCTTAAAACGTTCAATTACTTCCTTTAGTTCTTCCTGCCTTCCTTTAATAGGCCTAAATCTGAAAGAAATCAAAAGAATGAATGGGTTATCTGCCACAATCCTTGCGCCACTGATCCATCTTAACAGATCTTGAGAAAGAGCTAATACCCTAAAAACAGCCATGGTTATCAGAGCAAAGATCTAAGAGAAGAGAACAACAATCAATAGTCTTGATTACTACTATTCAAGTAATACTGATCACCTGGATACGCAAGTTCTCTTTTTTCAATCTGTTATTTTAATATTTTTATTTCACTGTTATCTCAGTAACTTCTCTTTTTTCAATCTGTTATTTTAATTATTTTTATTTCACTGTTATCTCATTAACTGTGAGGTGAGCAGACGATTCAAACAAAAGCTGTCTGATTCAGACTTACACTAGTCGTCAACTTTGGGAGACACAAAATCAAAGCTCTAGAATACAGCACACCTAATTTAGAGTTAGAATGACAAGAATCTTTTTAAAACATGCAAAATCAAGCTGGAAGAGTGCCAGGCAATGAATTTCAGAAGTATGATGATGTAAACAAAACCATGCCATACACAAAAACATTCTTTATGTACACAGTCAGAAAAAACCCCAAACTAAGTATTCCAACAGGCTTCGAAACACACCTTGATGTTCTAACCACCCATGTCAAAGTCATCTTTGATGACTGCATTCAGAGAACAAAACGAGTACAAGCAGTGTTAACTCTAGTGGTGAAATTGCTATACTGGTAATGTAGGAAAACTGATGGGGTAGAGTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCCAGGCTGGAGTGCA | TGGAGCTCCACAGCCTTGTGCCATGGTTACTTGTGTACCTATCTTATTCCTGCAAGAGAATGGAAACTCAACCAGGACAGGGACTATGCCACCTATGTCTCTGAATGCCCTGGTGTGGTGTTTTGCAAGCAGAAAGTACTCAAATACTTGCGGCAATGAATTAAACTTTCTGACTGCTGGATGAAGCAGGCAGGGACCAGTGGCAGTAAGGGTTATGAGGATCCGGAATCATGGTGCCACTCTTTAGAGCACACCATCTGCTAGGAATATAATGCAAGCCAAATTTTCAATCTTAAATTTTTTAGCAGCCACATTGAGAAAGTTAAGTGAATATAGGTGAAATTACTTTAACAATTTATTTTATTTTATTTTATTTGAGACGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTAAGTAGCTGGGACTACAGGTGTGTGCCACCACACCTAGCTCATTTTTTTTTTTTGTATTTTTACTAGAGATGGAGTTTCACCGTGTTGGCCAGGATGGTCTCGATTTCTTGACGTCATGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGAGCCACCATGCCCAGCCAACAATATATTTTAACCCAATATCCAAAATACGATTTCAGTAGGTAATATAAGAACTATGAATGGGAATAAAATTTAATATGAAATCTGGTGTGTATAGCACACTTACAGCGCTTCTCAATTCAGACTAGCTACATTTCAAGGACTCAAGGGCTGGTGGCTACTGTACCGGACGGTACAGCTCTAGGACTCTAGATCTCAAACCTACACACCCATCTGCAACACAGGGAGCCACATAATCCAACTAGCAGGCTCAATACATCCTGAGGTAAATGAAGCACATTTCATGTACACACACTCACCCCAGAGGCCTGGCAATAAAGTTCTTTTACCTATCCATTTTCAGATATCTGACCCCCCAAATTTTTGTGGTAGAAATATCAGAGGGTGGGTACATGAGGAGCTACATGTTTTTCCTGGGAGATAACATAGGGAACAGGCATGATAGGAAAGAAGATACAGTAGTATATTCTCTTTCATCTGTAACTTTTATCCCTTTTAGCTGGGCTCAACTCTGACTTAATTTTGAGATAGAGTCTCACTCTATTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTATAGCCTCTGTCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTAGGACTACAGGTGTGTGCTACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCAATGCCCCCCACCAACTCTACTATTTTTATTGAAGCTGGCATATATACATATATATATATCTGTATGTATGTATTTTTAAGCAACTAATGCTTTAGGGAGGTTTCCACCCATAAAACTAGGATCATTAAAACTTTAGCCCCAACCTTTCTTCTAGGCCAGTAGAAGACTGACTGTGGAAGCCAGGTTATCTAATCACGGTATCCACAACTCTTCAGCAATCATATCACTGAACAGGCATCCAGAGTCAATAAAGGAAAATGAAAAGCAATTTGGCCTAGAGATGGGATCTGGTTCAACTGAGACTTCCGATTTCCCCACTCTGACTCCAGCTGATGGGCCAAGGCAACGGCGATGCATTGGCTACTTCAGGGTAAACTCTGGCTTCATTCCTTACCATGAATTTCTCAGCACTTCAACAATAATTTAGAAGAGAACTTTAAATTAAATTAAAGGCTTATACTAGTAGAATAGTTACCACTCTTTTGTTGCAACTATTTTGGCTCCATTTTGTTCTGATGAGTATCTATTACATGGCAATATTTCAAATCCACTGTCAGTTGCAAACATTCGCAAATAAATAAATACCTAAAACAGGAAAAAAAAAATTGATAATGACTTTAAATGGTATACCCTGCTAGACTTTCTTACAATTATAAAAGCAAACCACCCGCAATGATGAAAAAAATGTAAGATCTAGCCTGAGCAACATAGCGAGACCCTGTCTCTACGAAAAACATTAGCCAAGCATGATGGCATGTACCTTTAGTGCCAGCTACGTGGGAGGCTGAGAGGAAGAATCACTTGAGCCCAAGAGATGGAAGCTGCAGTGAGCCATAATCAGGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGCCTCTAAAAAAACAATAAAATAAACAAAAAAAGTAAGATCATTAGGTAACAAACTTTATTGTTACTCAAGAGTTTTGAATGTCACAATTTTTCTCATTTTGCAATATTTGCATTACAGTAACTAGCTGAACACCTCTAAACAAAAAATTCAAAATCCTCCCATGAGCATTTCCTTTGAGTGTCAGGTCGGTGTTCAAAAAGTTTCAGATTTTGGAGCATTTCAAATTTTGGGGTTAAGGGTACTCACTCTGTATGAGTACCTAATGGCTTGTTTCCCTTAAGGCTCATAATGAATTTCACCTCTATATGACAAAGTTTTCTCTCCTTTTTTGGTTTTAGAGACAGGGTCTTGCTCTGTCTCCCAGGGCTGGAGCGCAGTGGCATGATCATAGCTCAGAGCAGCCTCTAACTCTTGGGCACAAGCAATGCTTCTGGCTCTGCTTCCTGAGTAGCCGGAACTACAAACTACAAAGGTACACACTACTATGCCTAGCTAATTTTTTTATTCTTATTTTTTTAGAGATGGAGTCTTGCTATGTTGCCCAGGCTGGTCTCGAAGTCCTGGCCTCAAGCAATACTCCCATCTTAGCCCCCACAAAGTGCTGGGATTACAAGCATGAGCCACTGAGCCTGGCCCAGTTTTTTCTCTGGACTGTCATCCAAATGACTGTATGTGTTACAAGATCTTCAGACTGATTAGTTTTATGAAAAATAAATTTAAAATTTCAGTATTAACTAACATTTAGGGTTTTAATTTACTTCACTATTCTTATCCAAATAGGTTAACAGCATCAGTCTTAATAAACTTACATGTTCTTTGAATAATTTCTCCTGCATTTTATTCTTGTTGAGAAAATAGTGCCGTGCCCATTCGCCTGAAGTCAAACATTTGAAGGCTTTCTCCAAGTGTTCATCTTTCTTAAAACGTTCAATTACTTCCTTTAGTTCTTCCTGCCTTCCTTTAATAGGCCTAAATCTGAAAGAAATCAAAAGAATGAATGGGTTATCTGCCACAATCCTTGCGCCACTGATCCATCTTAACAGATCTTGAGAAAGAGCTAATACCCTAAAAACAGCCATGGTTATCAGAGCAAAGATCTAAGAGAAGAGAACAACAATCAATAGTCTTGATTACTACTATTCAAGTAATACTGATCACCTGGATACGCAAGTTCTCTTTTTTCAATCTGTTATTTTAATATTTTTATTTCACTGTTATCTCAGTAACTTCTCTTTTTTCAATCTGTTATTTTAATTATTTTTATTTCACTGTTATCTCATTAACTGTGAGGTGAGCAGACGATTCAAACAAAAGCTGTCTGATTCAGACTTACACTAGTCGTCAACTTTGGGAGACACAAAATCAAAGCTCTAGAATACAGCACACCTAATTTAGAGTTAGAATGACAAGAATCTTTTTAAAACATGCAAAATCAAGCTGGAAGAGTGCCAGGCAATGAATTTCAGAAGTATGATGATGTAAACAAAACCATGCCATACACAAAAACATTCTTTATGTACACAGTCAGAAAAAACCCCAAACTAAGTATTCCAACAGGCTTCGAAACACACCTTGATGTTCTAACCACCCATGTCAAAGTCATCTTTGATGACTGCATTCAGAGAACAAAACGAGTACAAGCAGTGTTAACTCTAGTGGTGAAATTGCTATACTGGTAATGTAGGAAAACTGATGGGGTAGAGTTGTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTGGCCCAGGCTGGAGTGC | benign | 179,671 |
Chromosome 11, position 68180201, gene KMT5B (lysine methyltransferase 5B): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AAAGGGCCAAGCTATCTTTACACGTTCAATGTGAAAGTGACCAATGGGAACATTATACAAAAGTAAGTTATAGACCTGGAATGAAACTTGGCTATTTTTAATAGGCTTTATGTGTGTTCTATGCTTTCTGAAACAAGTTCATTCCTATCTAAAAATGCCTTCAGGTAACCTTGGTTTTGTTTACTTTTTATTCATAATGCCAAACAATTTACATGCTAAAACCAACACAAAATAGTCAACTCTTGATTTAGTAGTATTCTGCCTACCTTCCCTGTGTTGACTTCTGTTTCTGCTTTCCTGACTTTATTGCCTCAAACATAAATAAAACCCCTGAAACTATCCCTTGCTACCAATAGCAAGAACCTCTATTTCACTAAAAATATAAGTTGCTGTCCCAAACCTGTTAAAACTTACTGTCACAGTTGGCTGCTATGGGCATGAAATGACAGTAAGGAAAAGGGGGAAGAAAATGGTTAAGGGTGCAGACAGGCAGGAGATGAGACAGTTGTTTTCAATAATCCTACAGAAGTATGTAAAAGTCAGCTGGCTGATAGTCCAAATCAAATCCCATTGTAACAAATACTGTGGAAAATAAAAGTTAAGACTGTTATACCTATTAGGGCTGGTGCAAATGCACTGAAAACCTTAGGGAAATTTTTTTTTTTCCTATTATTGAACAGAAAAATACCCTCTCTCCTTAACTATAATCACTCTAAATCTCCCATACAAACTGCATAAAACTATCCTTTTACTCTGACACTTAAAGGCCAGATAATTTAGAACAGCCCTTTTGTTCCACAAATGAGGAAAATAAGGCCCAACAAGGCTGAGTAGATTGCCAATGACTTAGGGTTAATGAATGGAAGACCTGGGATTTACCCTGGCCTTTCTGGTTCCTGTTATATCACCTGGCTCAGGAGAGCCTTCCTCACATTGTTTCATGGTTAGAAGAGGATTTGACTTGCGTTTGCCATTGAACATCAGCACTGGGCCCAGCCAGAGACAGCTCTAGCTTGTATACTGACAATACAGTGGAAGGGATGGACGCAAATGTGAATTTTAAAATTTCGTATTTGGGTGGGGGGGTGGGTGACAAGGGAGGCAAGAAAAACAGTTATTTGGCATTTCCAAACCAATATGCCCCGTCCTCCCTCCCTTAATAGAAAATTTGCTACTTTAAATCAACCAAACATATCTATTTTTTCTCTTTTTACACTTCCAATCAATGGCTGGTATAAGAAAAATAAAAATGTCATTTACAATTGATTATTATTAAAGGGGCAGGAAAAAAACATATGAATTCACACTCCCACACACCTGTTCCCCACTCTTTCCAGAGACTCACTTCCCAGGTTTTCTTGCTATTTGGTTTTTCTGTCTCCCCACTGTGGCAGTGAAGAAAAGTTGTAGACTGTATTAGCTGTGCTACTGTGCCCTTCATTAGCATGCACAATCAAGAGCTGACTGGAGGGGTGGGGAACAGGAAGGGGAACAGAAAAAAGGGAGACAGGGAAGGAGAGAGGAAGAGAGAAAAATGCTCAAATATTTAAGATATAAAATAAAACCATGAGGCAACATAGTGAACACATTTCCCCCTCTGAAGAAAGTTTAGCTGCAAATCCACAGTTTGTAGACGCTGAGTGAGGAGTCGCAGATCAGCTCTTCAGTCCTTCTTGACCTGAAAATAAACGAGAACCAAAAACATACCTGGCTGAGTCCTGCAATCAGTGCTCAGCTAATCACATGGAGTGACTCCTGATCTTTTGAAGAATGATTTGTTTCTCTTAAAATCACCCTGTTATGAAGTACAAGTGGTTTTTTAAAAAATACAACTATTATCAAACTACTTTAAAAGGTTTGTAAAATGTTCTAAAACTCTAATTTATGCTGACACTTCAAATTACTTAACATAAAAGAACATTTTAAAAGGCTAGAATGGGTTAGTCAGTATCTCATTGTTTTTAACACACACTACCTACCTCACAGGGTTGTTGTGAGAAAAACTGTCAGATTTTGAAAAATGCCTTGAGCTCCTCGAAGGAAAGGCGCTATATAAATGCAAAAACAAACAACAAAAATAAAAAGCTATTTGTATAATCTGTACTTGTAATTTCTAAACAGACTTACAATATTCGTTGTTGCAAAAATCTTTAAAACTCTGTGATAATCAAGAACTTTAAGATACCACAGGTGGGCGCGGCAGGATAGAAGCCATGCTGCTGAAATTCTCTGCTTCCCATAGAACACACCTTACCATGAAGTTAGAAGCTTTGAAAACATTCTTTACGGATTCTAGTCAAGCACTTAATTTTAAAATGATATTTAAAGTGATTCATATTCATATCCAATAGTGGATATGAATAATCAAATACATATAAAAGTGAAATAAAAATTAGATGGTTATAACAGTAGAAAAATGAGTAAGGACTGTACAGGCTGACATTCTGATTAGAAAACCAAGAAAAGTTGAAAAGAGAAACTCAGTGCCCTGAAGTGACTCCCCTGATGTTTAAATGCTGTCTCCTGCTCAGCTCACTGCTGGCCTGAGTCGCCTTCGCGCCTCAGGATACTGTGACATCTCAGGGTCATGCAGCCTCAAAAAGGGGGCATTACTGAAAGCATCGATCCCTTTCTTAAAATATCCCGCTCCCACTCCATTTAAAAACCAGAGGTATAAACAACAACTCTTTTTTTCTTGTTAAAAAGAAAACTTTAGGTTTCATAATTGACAAAAGTCAATTAAGTTCAAATTTCTCCCAATAAATTGAAATTAGCATTTTGTTCGTACTATTTCTAAGTATTCATGCTACAACTCTTGCTTGTTAGTAAATGTAAGGATATATTAAGATTAAAACCTGTGCACTCAAAACATAGCCAGTTTTGAAAATTCTCCAATCATTAAACATCTACTCTTTCTTTTTTCTTTTTTTTTTTTTTTTGGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTTATTCGCCTGCCTCAAACTCTTGAGTAGCTGGGATTACGGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTGTCGAACACCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCACGCCCGGGCTAAACATCTACTGTTTCTAAACATTCTTCCTGTTGGTAGACTGAAAGAAGTAAAAGGAAGGGAAAAGAGTATAAAAAAGAGAAACTAAAAAGTGACAAATTACAGGTGCATAAACATATGAACAAAGAGCGCACTATACAAGGAACAGGCAGAGAGCTTAGAAAATTAAAATCCAAGAGCAGTACATCTTCTGGTCACTTCTTTTGCACCCCAAAGAGAGAGAAGTCCATAAACTAACAATTTAAGAAGTATTTATTGGCTATTTACTACCTTAATTAAGCATTATCAGTTTTCCTTATTTTCTAAAGTCACATTCTGGTAAATTCTTGCTCAAAAGATGAAGAGCTAGAAGGGATAGTTTTATTTTCAAGTAAATTCACTAAGGTTAATTGAAAACATATACCTTTCACCAAGATTATTGTAAAGGTCATTAATAAAGTTTCTGTTCCCAAATATCAGTGTACACAAGAGTGTAAAAGCACACGTAAACGGAACACTCTGGTGGGAAGTAGGCAGGCCGTCCCCTGCACTCCCACACCGGCCTGAAGTGCTGGCATTGCTAGGAACCCAGGCTGCTCTAACCAGGGCAACAGAATCGTCTGTACTTCCACAGGTTATTTTAGGAACTGTATAATTAAATGTTGGACTAAAAAATACTTAAAAAATGATTTCTTCTGCAAGTTTAACCAGCTTTAATTTTAGATGCTTCAATTCTATGGGGAAAAATCTTAGGCACTGGGTGCATTTTAACTTAGGAGTCCTCAGTTAATGTCTTGAGTTCCAAAAATATTTGTGTGGTAATCCTGAAGTTTACATTTATGACTACATAGTTTTACGTGAGCCCTAGGAAACTCCTAGTAAGGTATTTTTATCCAC | AAAGGGCCAAGCTATCTTTACACGTTCAATGTGAAAGTGACCAATGGGAACATTATACAAAAGTAAGTTATAGACCTGGAATGAAACTTGGCTATTTTTAATAGGCTTTATGTGTGTTCTATGCTTTCTGAAACAAGTTCATTCCTATCTAAAAATGCCTTCAGGTAACCTTGGTTTTGTTTACTTTTTATTCATAATGCCAAACAATTTACATGCTAAAACCAACACAAAATAGTCAACTCTTGATTTAGTAGTATTCTGCCTACCTTCCCTGTGTTGACTTCTGTTTCTGCTTTCCTGACTTTATTGCCTCAAACATAAATAAAACCCCTGAAACTATCCCTTGCTACCAATAGCAAGAACCTCTATTTCACTAAAAATATAAGTTGCTGTCCCAAACCTGTTAAAACTTACTGTCACAGTTGGCTGCTATGGGCATGAAATGACAGTAAGGAAAAGGGGGAAGAAAATGGTTAAGGGTGCAGACAGGCAGGAGATGAGACAGTTGTTTTCAATAATCCTACAGAAGTATGTAAAAGTCAGCTGGCTGATAGTCCAAATCAAATCCCATTGTAACAAATACTGTGGAAAATAAAAGTTAAGACTGTTATACCTATTAGGGCTGGTGCAAATGCACTGAAAACCTTAGGGAAATTTTTTTTTTTCCTATTATTGAACAGAAAAATACCCTCTCTCCTTAACTATAATCACTCTAAATCTCCCATACAAACTGCATAAAACTATCCTTTTACTCTGACACTTAAAGGCCAGATAATTTAGAACAGCCCTTTTGTTCCACAAATGAGGAAAATAAGGCCCAACAAGGCTGAGTAGATTGCCAATGACTTAGGGTTAATGAATGGAAGACCTGGGATTTACCCTGGCCTTTCTGGTTCCTGTTATATCACCTGGCTCAGGAGAGCCTTCCTCACATTGTTTCATGGTTAGAAGAGGATTTGACTTGCGTTTGCCATTGAACATCAGCACTGGGCCCAGCCAGAGACAGCTCTAGCTTGTATACTGACAATACAGTGGAAGGGATGGACGCAAATGTGAATTTTAAAATTTCGTATTTGGGTGGGGGGGTGGGTGACAAGGGAGGCAAGAAAAACAGTTATTTGGCATTTCCAAACCAATATGCCCCGTCCTCCCTCCCTTAATAGAAAATTTGCTACTTTAAATCAACCAAACATATCTATTTTTTCTCTTTTTACACTTCCAATCAATGGCTGGTATAAGAAAAATAAAAATGTCATTTACAATTGATTATTATTAAAGGGGCAGGAAAAAAACATATGAATTCACACTCCCACACACCTGTTCCCCACTCTTTCCAGAGACTCACTTCCCAGGTTTTCTTGCTATTTGGTTTTTCTGTCTCCCCACTGTGGCAGTGAAGAAAAGTTGTAGACTGTATTAGCTGTGCTACTGTGCCCTTCATTAGCATGCACAATCAAGAGCTGACTGGAGGGGTGGGGAACAGGAAGGGGAACAGAAAAAAGGGAGACAGGGAAGGAGAGAGGAAGAGAGAAAAATGCTCAAATATTTAAGATATAAAATAAAACCATGAGGCAACATAGTGAACACATTTCCCCCTCTGAAGAAAGTTTAGCTGCAAATCCACAGTTTGTAGACGCTGAGTGAGGAGTCGCAGATCAGCTCTTCAGTCCTTCTTGACCTGAAAATAAACGAGAACCAAAAACATACCTGGCTGAGTCCTGCAATCAGTGCTCAGCTAATCACATGGAGTGACTCCTGATCTTTTGAAGAATGATTTGTTTCTCTTAAAATCACCCTGTTATGAAGTACAAGTGGTTTTTTAAAAAATACAACTATTATCAAACTACTTTAAAAGGTTTGTAAAATGTTCTAAAACTCTAATTTATGCTGACACTTCAAATTACTTAACATAAAAGAACATTTTAAAAGGCTAGAATGGGTTAGTCAGTATCTCATTGTTTTTAACACACACTACCTACCTCACAGGGTTGTTGTGAGAAAAACTGTCAGATTTTGAAAAATGCCTTGAGCTCCTCGAAGGAAAGGCGCTAAATGCAAAAACAAACAACAAAAATAAAAAGCTATTTGTATAATCTGTACTTGTAATTTCTAAACAGACTTACAATATTCGTTGTTGCAAAAATCTTTAAAACTCTGTGATAATCAAGAACTTTAAGATACCACAGGTGGGCGCGGCAGGATAGAAGCCATGCTGCTGAAATTCTCTGCTTCCCATAGAACACACCTTACCATGAAGTTAGAAGCTTTGAAAACATTCTTTACGGATTCTAGTCAAGCACTTAATTTTAAAATGATATTTAAAGTGATTCATATTCATATCCAATAGTGGATATGAATAATCAAATACATATAAAAGTGAAATAAAAATTAGATGGTTATAACAGTAGAAAAATGAGTAAGGACTGTACAGGCTGACATTCTGATTAGAAAACCAAGAAAAGTTGAAAAGAGAAACTCAGTGCCCTGAAGTGACTCCCCTGATGTTTAAATGCTGTCTCCTGCTCAGCTCACTGCTGGCCTGAGTCGCCTTCGCGCCTCAGGATACTGTGACATCTCAGGGTCATGCAGCCTCAAAAAGGGGGCATTACTGAAAGCATCGATCCCTTTCTTAAAATATCCCGCTCCCACTCCATTTAAAAACCAGAGGTATAAACAACAACTCTTTTTTTCTTGTTAAAAAGAAAACTTTAGGTTTCATAATTGACAAAAGTCAATTAAGTTCAAATTTCTCCCAATAAATTGAAATTAGCATTTTGTTCGTACTATTTCTAAGTATTCATGCTACAACTCTTGCTTGTTAGTAAATGTAAGGATATATTAAGATTAAAACCTGTGCACTCAAAACATAGCCAGTTTTGAAAATTCTCCAATCATTAAACATCTACTCTTTCTTTTTTCTTTTTTTTTTTTTTTTGGAGATAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTTATTCGCCTGCCTCAAACTCTTGAGTAGCTGGGATTACGGGCACGCACCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTGTCGAACACCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCATCACGCCCGGGCTAAACATCTACTGTTTCTAAACATTCTTCCTGTTGGTAGACTGAAAGAAGTAAAAGGAAGGGAAAAGAGTATAAAAAAGAGAAACTAAAAAGTGACAAATTACAGGTGCATAAACATATGAACAAAGAGCGCACTATACAAGGAACAGGCAGAGAGCTTAGAAAATTAAAATCCAAGAGCAGTACATCTTCTGGTCACTTCTTTTGCACCCCAAAGAGAGAGAAGTCCATAAACTAACAATTTAAGAAGTATTTATTGGCTATTTACTACCTTAATTAAGCATTATCAGTTTTCCTTATTTTCTAAAGTCACATTCTGGTAAATTCTTGCTCAAAAGATGAAGAGCTAGAAGGGATAGTTTTATTTTCAAGTAAATTCACTAAGGTTAATTGAAAACATATACCTTTCACCAAGATTATTGTAAAGGTCATTAATAAAGTTTCTGTTCCCAAATATCAGTGTACACAAGAGTGTAAAAGCACACGTAAACGGAACACTCTGGTGGGAAGTAGGCAGGCCGTCCCCTGCACTCCCACACCGGCCTGAAGTGCTGGCATTGCTAGGAACCCAGGCTGCTCTAACCAGGGCAACAGAATCGTCTGTACTTCCACAGGTTATTTTAGGAACTGTATAATTAAATGTTGGACTAAAAAATACTTAAAAAATGATTTCTTCTGCAAGTTTAACCAGCTTTAATTTTAGATGCTTCAATTCTATGGGGAAAAATCTTAGGCACTGGGTGCATTTTAACTTAGGAGTCCTCAGTTAATGTCTTGAGTTCCAAAAATATTTGTGTGGTAATCCTGAAGTTTACATTTATGACTACATAGTTTTACGTGAGCCCTAGGAAACTCCTAGTAAGGTATTTTTATCCACNNNN | benign | 179,673 |
Is chromosome 11, position 68185853, gene KMT5B (lysine methyltransferase 5B) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Autistic_behavior'] | GTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCTGGTGATCCACCCAGCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTGGATCTTAATCAATCAGGGCATCCAATGGCAGTCATTTGGCAGGGAACTGTTTAAATAATCCCCCAACTCCATTCCAATATTTCACACTTCATTTTAGTAGGTAAAGATATATGACAGAAAATTTTATGGTCAGACATGGTGGCTCACGTCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTACACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAAACTGAGGCAGAAGAATCACTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCATCTAAAAAAGAAAAGAAAAAAAAATTTATGAAAAAAACAAAAGCATATTTTTACCTGAATTACTTCTTTTGGATTTAGACTGTAATTGATAAGTGAGGCATATAGTATCTTAATTCTAGCAAGGGATAAAATTAAAAGGGGGGAAACAGGACACAAGACTTTCCTCTAATTACCTGTACTCACCAATTCCTACCTCTCCCAACTACTGATCAGTGACCACCTACCTGGGTATCAAGTTCCCCCAGGGTTGCCACTAAAATCAGAACTATATAACCCCAGTCCGGGTGTGATGGAGATGAAAGTGATGGGCCAGAACTAGCTCTATCTTCTAAATCCCTGCTGTTATGCTTTTCCACCAGGCTAAAAAACCCTTTGCCATAGAGGTTAAGAGACAAAGCAAAGTTGCAAAGCTCTGACCTGTTTGGTGGCAGATACATTTGTGAAATGATCTAATGGTCTTTTTTGAGGGAGAAATGGTATTTAAGAGAATTAAAGAGAGACCTCAGCTGTTAAAAGATGACAGATTTCAAGATTAATGTAATAATGTTTTTTATATACAGCATTTGGTACTCAAAACACTTACACATCCACTTTCTTACCTGCATACTGAATATAAACATGTCTTTAAAACTATTCGCTCTTAAATAATTAGCTGAATCCCAAAGATTAAACATGATGACAAAATTCCCCATCTATACAGAGACAACGTGTAAGAGAAAAGTCTATAATAAAATCATGAAAAAAAGGGATGTACCCTACTTTAGGTTGGAAATAATCATACACTTTCAAGGTGTTACAGGATGCTTGTCAGATTTTTCTTTTCGCTAAGATAATTGTCATCACCTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCTGCCTGGCTAATTTTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTGGGGATTACAGGCGTGAGCCACCATGCCTGGCATCATCAACTTTTAAAATAGAACATGAGGATGCTCCTCCAGCTTTATACGTTAATAGAAATGTTCTGAGGTAAAATAAGAACACAGAGTTAGAACTGACAAGATTCCTGGAGTCTTTTCTCTGCTTCTCTTGGCTCACAGACAGAAAACCCTTCCACTGCAAAGAACTTTCCTTTAATGTCATTTTAAATTTTGAGCAAAAGTAAAATTAGCCATCTATGTTCTTGAATTCAACATAATCATCTGTTCCATTCAGGATAAAGACTGAAAATTACCTAGTATTCATTTTGTGTGTTTGAAAACCTAAATAGGGATCAAGAACCAAACTGGTTGCTAGGTCATCATTTTCACAGAGTTCCTTGGCGGACATTCCAGAGGATGGTACATAGCGACTCTGTCCTTCAAATCCCGAGTTACCATTACCTGTGAAAAGCAAAAGCAAGAAAAATTACTCAAATTGAAAACTACTTAAATCTGCCTTAAAATCTTTAGCGGCATTGCCCATTCAAGCTGGTAATAAAGAACTGAAAAATCAATCATTTTAGTAATTAAGAATTTAATAACCTTTGCATAAGACAGAAAACCAAATGCAGTAAACTATCTCCATTACTGAGAGTATTATCGTTAGCAGGTAGTAATAGCAGGTTCCCAAGAATGGGGTCTGGGTAGTCGTGAGAATTTGGTTCAAATGCTTGACTCTCCCCCACCCCCTTCTCTCCAAGGAACACTGAGAAACGGGACGGGAGCATGTTCACTATTTTAACAAGACAATACACAGGGCCATTACAGATAGGACTCGACTGAAAAGGAAAGAGGAACACAAGATAGTTTCTGCAAGAAGCGCCAGAACTCCAGATCTCAAGTATCAAAAGGAATCTCATGAAGTTCAGCTTCCTGCTTTAGGGCAGGTGAATGATTATTATCCCCACTTTGCAGGCAACTGAGGCCCAGACAAAAAGAAACTTGCCCACAATTCCAGAGCTGGGCAGTAGAAGTGGGGAAAGAAGTGGAGAGAGAATGACAGACCTATTTCTACTGACCTCTGTTTGAAGCAATTATGAACGAATGGATAAAAATACAGACTGAAATATATAACTGAAATAACTGGGTTTAACTGTGGAAGAAAAGCAATGTAAAGAAGGAAATGAAGGCCAAGTTTGTAAGAAGTTTCATCAGAGCTGATTAAGTTTGATGTATATGCCACTGACAGTCCTTCCATGGAATCAGCACATCATTTATGGAGGACAACAGCAATGTAACTTTCAGGCTCTCAAAACCAAAATGGGGAAGAATGAAACACAGAGTAAAGTTTAACCTTTTCATCCACTCTTTCACAGAACAAATACTTAAATGTAAGTTCCTGCCAAGGGTAGACATATGATTTTGCAATCAAATTAGTTGCATGTAGGTATGTGAAAAGCTATCAACATTGTTAAATTTTTGGTAACAGCATAATAGCTTTATTGAAATACAATTCACATACGACACAACTCACTTTTTTTTTTTTTGAAGACAGGGTCTTGCTTTGCCACCCAGCCTGGAGTGCAGTGGCATGATCACAGCTCACCGCAGCCTCGAATTCCTGGGCTCAAGGAATCATCCTGCCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATGCATCATCAAACCTGGTTAATTTTTGTATTTTTTTGTAAAAGTGGGGTCTCGCCATATTGTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGTCTTCTTTTTTTCACGCAGGCATTTACAAGTATAAATTTCCCTCTAAACCACCGCTTTGGCTGCATCCTGTAAGTTTTAGTATGTTTTATCTTTCTTTTAATTCACTTCAAAATGTTTTCTGATTTCCTTTTTGATTTCTTCTTTGACCCACTGATTATTTAGAAGTGTGTTATTTCATTTCTATGTATTTGTGAAATTCCCAAATTTCCTTGTTAATTTCTAATTTTCCTCCATTGGGGTCACAGAACATACCTTTTATGATTTCAATCCTTTGAAGTTTATGGAAGCTTGTTATACGGTCTAGCATATGTTCTATCCTGGAATGCTGCACTTGCACTTGAGATGAATGCGTATTCTGATGAGGTTCTATAGATGTCTGTTAGGCCTCATTGGTTTATAGTCTTAAGCTGTTCTATCCATTATTAAAAGTGGCGTATCAAAGTCTCCAAATTATTGCTGAATTGTTGATTTTTCCCTTCAATTTTGTCAGTTTTTCTTTCCTGTATCTTAAGGCTCTGCTGCTGGGAAAGTCACTGATTGTATCTGAGATGGGGCACTGCTCTGTGCTCTCCCATTTCTCATTGCTGGCTCTCTTTCTGCACCA | GTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCTGGTGATCCACCCAGCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTGGATCTTAATCAATCAGGGCATCCAATGGCAGTCATTTGGCAGGGAACTGTTTAAATAATCCCCCAACTCCATTCCAATATTTCACACTTCATTTTAGTAGGTAAAGATATATGACAGAAAATTTTATGGTCAGACATGGTGGCTCACGTCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTCAAGACCAGCCTGGTCAACATGGTGAAACCTCATCTACACTAAAAATACAAAAATTAGCTGGGTGCAGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAAACTGAGGCAGAAGAATCACTTGAACCCAGAAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGTCTGGGCGACAGAGTGAGACTCCATCTAAAAAAGAAAAGAAAAAAAAATTTATGAAAAAAACAAAAGCATATTTTTACCTGAATTACTTCTTTTGGATTTAGACTGTAATTGATAAGTGAGGCATATAGTATCTTAATTCTAGCAAGGGATAAAATTAAAAGGGGGGAAACAGGACACAAGACTTTCCTCTAATTACCTGTACTCACCAATTCCTACCTCTCCCAACTACTGATCAGTGACCACCTACCTGGGTATCAAGTTCCCCCAGGGTTGCCACTAAAATCAGAACTATATAACCCCAGTCCGGGTGTGATGGAGATGAAAGTGATGGGCCAGAACTAGCTCTATCTTCTAAATCCCTGCTGTTATGCTTTTCCACCAGGCTAAAAAACCCTTTGCCATAGAGGTTAAGAGACAAAGCAAAGTTGCAAAGCTCTGACCTGTTTGGTGGCAGATACATTTGTGAAATGATCTAATGGTCTTTTTTGAGGGAGAAATGGTATTTAAGAGAATTAAAGAGAGACCTCAGCTGTTAAAAGATGACAGATTTCAAGATTAATGTAATAATGTTTTTTATATACAGCATTTGGTACTCAAAACACTTACACATCCACTTTCTTACCTGCATACTGAATATAAACATGTCTTTAAAACTATTCGCTCTTAAATAATTAGCTGAATCCCAAAGATTAAACATGATGACAAAATTCCCCATCTATACAGAGACAACGTGTAAGAGAAAAGTCTATAATAAAATCATGAAAAAAAGGGATGTACCCTACTTTAGGTTGGAAATAATCATACACTTTCAAGGTGTTACAGGATGCTTGTCAGATTTTTCTTTTCGCTAAGATAATTGTCATCACCTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGACTGGAGTGCAATGGCACGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCTGCCTGGCTAATTTTTTTTGTACTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTGGGGATTACAGGCGTGAGCCACCATGCCTGGCATCATCAACTTTTAAAATAGAACATGAGGATGCTCCTCCAGCTTTATACGTTAATAGAAATGTTCTGAGGTAAAATAAGAACACAGAGTTAGAACTGACAAGATTCCTGGAGTCTTTTCTCTGCTTCTCTTGGCTCACAGACAGAAAACCCTTCCACTGCAAAGAACTTTCCTTTAATGTCATTTTAAATTTTGAGCAAAAGTAAAATTAGCCATCTATGTTCTTGAATTCAACATAATCATCTGTTCCATTCAGGATAAAGACTGAAAATTACCTAGTATTCATTTTGTGTGTTTGAAAACCTAAATAGGGATCAAGAACCAAACTGGTTGCTAGGTCATCATTTTCAGAGTTCCTTGGCGGACATTCCAGAGGATGGTACATAGCGACTCTGTCCTTCAAATCCCGAGTTACCATTACCTGTGAAAAGCAAAAGCAAGAAAAATTACTCAAATTGAAAACTACTTAAATCTGCCTTAAAATCTTTAGCGGCATTGCCCATTCAAGCTGGTAATAAAGAACTGAAAAATCAATCATTTTAGTAATTAAGAATTTAATAACCTTTGCATAAGACAGAAAACCAAATGCAGTAAACTATCTCCATTACTGAGAGTATTATCGTTAGCAGGTAGTAATAGCAGGTTCCCAAGAATGGGGTCTGGGTAGTCGTGAGAATTTGGTTCAAATGCTTGACTCTCCCCCACCCCCTTCTCTCCAAGGAACACTGAGAAACGGGACGGGAGCATGTTCACTATTTTAACAAGACAATACACAGGGCCATTACAGATAGGACTCGACTGAAAAGGAAAGAGGAACACAAGATAGTTTCTGCAAGAAGCGCCAGAACTCCAGATCTCAAGTATCAAAAGGAATCTCATGAAGTTCAGCTTCCTGCTTTAGGGCAGGTGAATGATTATTATCCCCACTTTGCAGGCAACTGAGGCCCAGACAAAAAGAAACTTGCCCACAATTCCAGAGCTGGGCAGTAGAAGTGGGGAAAGAAGTGGAGAGAGAATGACAGACCTATTTCTACTGACCTCTGTTTGAAGCAATTATGAACGAATGGATAAAAATACAGACTGAAATATATAACTGAAATAACTGGGTTTAACTGTGGAAGAAAAGCAATGTAAAGAAGGAAATGAAGGCCAAGTTTGTAAGAAGTTTCATCAGAGCTGATTAAGTTTGATGTATATGCCACTGACAGTCCTTCCATGGAATCAGCACATCATTTATGGAGGACAACAGCAATGTAACTTTCAGGCTCTCAAAACCAAAATGGGGAAGAATGAAACACAGAGTAAAGTTTAACCTTTTCATCCACTCTTTCACAGAACAAATACTTAAATGTAAGTTCCTGCCAAGGGTAGACATATGATTTTGCAATCAAATTAGTTGCATGTAGGTATGTGAAAAGCTATCAACATTGTTAAATTTTTGGTAACAGCATAATAGCTTTATTGAAATACAATTCACATACGACACAACTCACTTTTTTTTTTTTTGAAGACAGGGTCTTGCTTTGCCACCCAGCCTGGAGTGCAGTGGCATGATCACAGCTCACCGCAGCCTCGAATTCCTGGGCTCAAGGAATCATCCTGCCTCAGCCTCCCTAGTAGCTGGGACCACAGGCATGCATCATCAAACCTGGTTAATTTTTGTATTTTTTTGTAAAAGTGGGGTCTCGCCATATTGTCCAGGCTGGTCTTGAACTCCTGAGCTCAAGCCATCCTCCTGCCTCAGCCTCCCAAACTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGTCTTCTTTTTTTCACGCAGGCATTTACAAGTATAAATTTCCCTCTAAACCACCGCTTTGGCTGCATCCTGTAAGTTTTAGTATGTTTTATCTTTCTTTTAATTCACTTCAAAATGTTTTCTGATTTCCTTTTTGATTTCTTCTTTGACCCACTGATTATTTAGAAGTGTGTTATTTCATTTCTATGTATTTGTGAAATTCCCAAATTTCCTTGTTAATTTCTAATTTTCCTCCATTGGGGTCACAGAACATACCTTTTATGATTTCAATCCTTTGAAGTTTATGGAAGCTTGTTATACGGTCTAGCATATGTTCTATCCTGGAATGCTGCACTTGCACTTGAGATGAATGCGTATTCTGATGAGGTTCTATAGATGTCTGTTAGGCCTCATTGGTTTATAGTCTTAAGCTGTTCTATCCATTATTAAAAGTGGCGTATCAAAGTCTCCAAATTATTGCTGAATTGTTGATTTTTCCCTTCAATTTTGTCAGTTTTTCTTTCCTGTATCTTAAGGCTCTGCTGCTGGGAAAGTCACTGATTGTATCTGAGATGGGGCACTGCTCTGTGCTCTCCCATTTCTCATTGCTGGCTCTCTTTCTGCACCANN | pathogenic | 179,674 |
Is the genetic change at chromosome 11, position 68312746, within gene LRP5 (LDL receptor related protein 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGAGATCAGGTGGAAGGGGGTCGAGGCTGCAAGTGGGGACGCATGAGTGGGTGACAGGTGGCAGTAGTAGAAGTGTAAGAAGAGCTGGGAGTCTGGGTCTCTTCTATCTTGAAAATAGAACCCCAGGCTGTGCTGGTAGAGCTGGATGCAGGGTGGAAGAAGGGAAAATATTTTTGCTGCTTAAATCCTAGCCTGGCTTCCCATTGCTCGTGGGGTGCATTCTCGATTCCTCTTCCCCGCCTGAGGTCTGACATGTGCTGGCCCTGGCTGGCCTCTCCTGTACCTTCTACCACCAGCTCCAGCTCATGGCCTGATGTGGTTCCTCCCCCGAATCCAGCGACCAGGCTGCCCTCTGCCCCAGCGCCTCCTCCGTGGATGTCTGCTCTTCCTGAACTGCCCTCCCACCGGACGGCTGCTCCTTGGTAGCAGCTCAAGTGTCCTTCCTTCCCTAAGCCAGTTTCCCCAAACACTGCAGCACAACGCCCTTCATTTCTCATGGCATTCTTCATGGCCTGTCAATGGGGCTTTTGTTGTTTTAATTTTCCGTCTTCTTGTTTTTGTTGGTCTTCCTAGAATATAAACCCCATGAGGGCAGAGGCGTTCAGCCTGACTCCAGCCTGGCAAAGCTGTCACAAATCTGGAGGAACACACACGTTCACGGGCACTCAGTTCTGTGAGGTACTGCAAGCCCTCTCTGAACCTGCAAGGTGGCCATTGCTGTCCCCACTTTACAAAGGAGGAAAGAGTGCGCGGAGAGGTTCTACTTAGACCCGCCAAGGGCACAGTCGTTCTAGAAAGTAGCAGACTGGGAGTTCCAACTTGGGCTTGCTGGTTCCAGAGCCCCTTCTGTGCCCCTTCCAGGCTGTGCCTGGGTGAGATTCTTCTCCTACCAGCACGTCTTCTTCCTGGAGGGTTCAGTGGCTGAGCTGACACCGGTGGGCAAGAGGCCCTGGCGGGCTTGTTGAAGGACTCAAAGGTGGCGTCTGGGAGCCTGGCGGGACTTTCTCCCTGTCAGCCTAGAGGCACTTTTAGAGGAGTGTGTCTGTTTCGCAGTCTTCGTGTCTCATAATTCATAACTAAGGTAGAGGGTACACATTTAGTTTACAGTAAAACCTCAAACCCACCTCCACTCCCAGCCGGCCACTTCTCTCCCTGTTCCCTTCTCTGCCCTCCACAGGTGAGAACAAGTGTCCGGGGCCGCCCCGTGGGGCCCCAGGCTGCCCGCCCTGAAACTGCCTCGCTGTGTGCCCTTGGGCAACCCCGCCCTGCTCCGTGCCTCAGTTTCCCCACTCATAGAGGCTCCACAGGTGACACACCTGGCTCCGGGCCCCGATCGGCCGCCGGGCCCCGCGGGGCGGAAACCCCGCGCCAAGCCTCCCGGAGGCACCTCCAGGGCAGGGCGGGGAGCGCGGGGAGGGGCCGCGGGGACCTGCGCCGCTGGGGCCGCCTGGCCGCCGGCCGGCTCCGGGGGGCGCCCGCGGGAGGGCGCGGCCGGTGCGGGGGGCGCGGGTGGCGGCGGCGGGGGGCGGAGACGCGGCGCGGCTTCCGCTCCCGCGCGCCCAGCTCCCTCCTCCCCGTCGTCCTGGTCCGCGGCGCCCGAGGGGGGAGGCGGAGGCGCCGGGAGCCGCGCGAGGAGCCGCCGCCGCCGCGCCATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGGTAGGTGGGCGCAGGCCGGCCGGGGGCCGCGGGTTGCTCGGACAATGGCCCGGGCGGCCCCGCGGCCAAGTGCGCGGGCGCCGCCGCCGTCTCGGAAGCGACTTGGCGAGTTGGGAGCGAGTTGGGGCGCGCGCCCGGGATCCCCCTGCCGTCCCCGGCGTCCCCGCCACGCGCGGGCCCTTTGTCTCCCCACCCGGGCCCTCCCCGGGGACGCTGCGTCCCGGGCTGGCGAGGAGGGCGCCCGCTCCGCCAGGTGCGGCGCGGGCGGGTCCTCACCTGCCCGAGCCCGCGGGAAGCCGGGAGCCGAGCCGAGCCCGCGCTGGGCCCGTGTGGCCCGGGCCGGGCACCGAGCGGGGACTTGGGGCGCGGAGGCGGGCCTGGCCCGGGGAGCCGGTTCGCAAGCCTGTTTCCAGCGGCCGCGCGGCCGCCCCGCGTGCTCCGAGGACGGGCTGAAGTTGCAGCGAGAAAGTTCTGAGCCCGGGCGCGGGGCGGCCTGGCCGGTGGCGCTGCTCCTGTGAGCCGCGTGGCTGTGGGTTTCCAAGCGGACTGACACCTGCCAGGTGCCCGGGCGACCCGAATGCCCCGTGTGGCCGCCGGGTCCCCAGATAGTGTCCATCCCCGGGTCGGCTACGCGGAGGTGACGTGGTCCCAGATCGCGGGGCAGTGGGGGAGGCAGGCTTGTGCCTCAGTTGTACACTCCCGTGGGGAGAGGTAGGGCGGGGGAACTTTCTCTCCAACTTTTGGTGTTTCCCAGGGGGTGGAGTTGAGGTCAGGAGGACTCAGGAAACTTAAGCAGTCGTGAAACGCTACACATGTTCTTTTAATTTGGAGATTGCCATGTGGTTTTTCAAGCAAGCCTCTTGCTACCTAAATCATTCTCTTCGGATGTGCGTGTTTTGTTTTTCTGGAGTATGGCTGGCCAAGTGGCACGGCCGCAAGTGCCTGTGCACGCCGCGGCTCCTGTTCTGTTTGTGGCAGTTTAGCGGGGAGGACCTCGGGCCCCTTTGTCTGGGCCTCCTTAAGGCAAACAGCTGTCTCCCTGAATATTTCCAGTGTGAATGGTGCAGCGGGGTGGCCCTGTAGTCAGATCCCCCAGGCTGCAGCCTCTGCTTGGAGGTGTGGGGGACAGCGGGGAACAGGAGGAGCTTGGAGTTTGTTTCACGTCCTCCTGCCTCTGACCCAAGCCTAGAGATTCTATGGACAGTTTCACCCCAAATCTGCCTCTTTCAGGAGCGTGTTTACATTGTGGGGCCTTGTCTGGAGCTAGCAAAACAAGGTGAAGACAAAACAGCGACAGTATCTGGGGAGTACAGGCCAGCGCCGCTCCTTTTTCCGGAAATGCCTGGGTCAAGGAGGCAAAAGGGGTTTTGGGGAAACTGTTTGTTTTAAAGGGGGGGTTTCTAGGCCGACCGCGTTGCCTTTCACCTCATTGCAGTTTTGGGTTTTGTGCACGTTTTGGGGTGATGTTGCTGGAGTCAAATGCCTGTCGTCCATGTGGTTCGAGCCCCTGAGGAGAAAGAATTATAGCTGTAGAGTTCAGTTGTGTGTGAGGCAAAAATAGAGTTGATTATTTTAACATTAGGCAGCAAGGCCTGGGAGCCCCAGTGAATGTGGTGATCCAGGCCTAAAATGGAAGGAAAGGGAGGAATCTTTCTGCAGAACGGTTTTGATGTTATATCCCTGGTTTTACTGTGTGAAATACATGCCTCGGACCTCAGCGAAGCCAGTAAGTGGGCCGCTAATTATTTTTCCTGATTGCTTCCTGTTGCAATTGGAAGCTGTGAACGCACGGAAATGGCTTTGTTCTAGTGGTCCCAGTGCTGAGAACTTCCCCAGCTCCCAAGCCCTAGTCCTCTCTCCTCGGGGCCCAAGTGCTTGTTCCAGGGCCGGCCTGTCCAGGCACCCCCTCTCCCCCTGGAGGTTCCTCCTGTAGATGCCCAAGGCCAAGGCCGGGCCCTCTGGGAGAGCCCAGAAGGGCTGAGTGGGGT | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGAGATCAGGTGGAAGGGGGTCGAGGCTGCAAGTGGGGACGCATGAGTGGGTGACAGGTGGCAGTAGTAGAAGTGTAAGAAGAGCTGGGAGTCTGGGTCTCTTCTATCTTGAAAATAGAACCCCAGGCTGTGCTGGTAGAGCTGGATGCAGGGTGGAAGAAGGGAAAATATTTTTGCTGCTTAAATCCTAGCCTGGCTTCCCATTGCTCGTGGGGTGCATTCTCGATTCCTCTTCCCCGCCTGAGGTCTGACATGTGCTGGCCCTGGCTGGCCTCTCCTGTACCTTCTACCACCAGCTCCAGCTCATGGCCTGATGTGGTTCCTCCCCCGAATCCAGCGACCAGGCTGCCCTCTGCCCCAGCGCCTCCTCCGTGGATGTCTGCTCTTCCTGAACTGCCCTCCCACCGGACGGCTGCTCCTTGGTAGCAGCTCAAGTGTCCTTCCTTCCCTAAGCCAGTTTCCCCAAACACTGCAGCACAACGCCCTTCATTTCTCATGGCATTCTTCATGGCCTGTCAATGGGGCTTTTGTTGTTTTAATTTTCCGTCTTCTTGTTTTTGTTGGTCTTCCTAGAATATAAACCCCATGAGGGCAGAGGCGTTCAGCCTGACTCCAGCCTGGCAAAGCTGTCACAAATCTGGAGGAACACACACGTTCACGGGCACTCAGTTCTGTGAGGTACTGCAAGCCCTCTCTGAACCTGCAAGGTGGCCATTGCTGTCCCCACTTTACAAAGGAGGAAAGAGTGCGCGGAGAGGTTCTACTTAGACCCGCCAAGGGCACAGTCGTTCTAGAAAGTAGCAGACTGGGAGTTCCAACTTGGGCTTGCTGGTTCCAGAGCCCCTTCTGTGCCCCTTCCAGGCTGTGCCTGGGTGAGATTCTTCTCCTACCAGCACGTCTTCTTCCTGGAGGGTTCAGTGGCTGAGCTGACACCGGTGGGCAAGAGGCCCTGGCGGGCTTGTTGAAGGACTCAAAGGTGGCGTCTGGGAGCCTGGCGGGACTTTCTCCCTGTCAGCCTAGAGGCACTTTTAGAGGAGTGTGTCTGTTTCGCAGTCTTCGTGTCTCATAATTCATAACTAAGGTAGAGGGTACACATTTAGTTTACAGTAAAACCTCAAACCCACCTCCACTCCCAGCCGGCCACTTCTCTCCCTGTTCCCTTCTCTGCCCTCCACAGGTGAGAACAAGTGTCCGGGGCCGCCCCGTGGGGCCCCAGGCTGCCCGCCCTGAAACTGCCTCGCTGTGTGCCCTTGGGCAACCCCGCCCTGCTCCGTGCCTCAGTTTCCCCACTCATAGAGGCTCCACAGGTGACACACCTGGCTCCGGGCCCCGATCGGCCGCCGGGCCCCGCGGGGCGGAAACCCCGCGCCAAGCCTCCCGGAGGCACCTCCAGGGCAGGGCGGGGAGCGCGGGGAGGGGCCGCGGGGACCTGCGCCGCTGGGGCCGCCTGGCCGCCGGCCGGCTCCGGGGGGCGCCCGCGGGAGGGCGCGGCCGGTGCGGGGGGCGCGGGTGGCGGCGGCGGGGGGCGGAGACGCGGCGCGGCTTCCGCTCCCGCGCGCCCAGCTCCCTCCTCCCCGTCGTCCTGGTCCGCGGCGCCCGAGGGGGGAGGCGGAGGCGCCGGGAGCCGCGCGAGGAGCCGCCGCCGCCGCGCCATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGGTAGGTGGGCGCAGGCCGGCCGGGGGCCGCGGGTTGCTCGGACAATGGCCCGGGCGGCCCCGCGGCCAAGTGCGCGGGCGCCGCCGCCGTCTCGGAAGCGACTTGGCGAGTTGGGAGCGAGTTGGGGCGCGCGCCCGGGATCCCCCTGCCGTCCCCGGCGTCCCCGCCACGCGCGGGCCCTTTGTCTCCCCACCCGGGCCCTCCCCGGGGACGCTGCGTCCCGGGCTGGCGAGGAGGGCGCCCGCTCCGCCAGGTGCGGCGCGGGCGGGTCCTCACCTGCCCGAGCCCGCGGGAAGCCGGGAGCCGAGCCGAGCCCGCGCTGGGCCCGTGTGGCCCGGGCCGGGCACCGAGCGGGGACTTGGGGCGCGGAGGCGGGCCTGGCCCGGGGAGCCGGTTCGCAAGCCTGTTTCCAGCGGCCGCGCGGCCGCCCCGCGTGCTCCGAGGACGGGCTGAAGTTGCAGCGAGAAAGTTCTGAGCCCGGGCGCGGGGCGGCCTGGCCGGTGGCGCTGCTCCTGTGAGCCGCGTGGCTGTGGGTTTCCAAGCGGACTGACACCTGCCAGGTGCCCGGGCGACCCGAATGCCCCGTGTGGCCGCCGGGTCCCCAGATAGTGTCCATCCCCGGGTCGGCTACGCGGAGGTGACGTGGTCCCAGATCGCGGGGCAGTGGGGGAGGCAGGCTTGTGCCTCAGTTGTACACTCCCGTGGGGAGAGGTAGGGCGGGGGAACTTTCTCTCCAACTTTTGGTGTTTCCCAGGGGGTGGAGTTGAGGTCAGGAGGACTCAGGAAACTTAAGCAGTCGTGAAACGCTACACATGTTCTTTTAATTTGGAGATTGCCATGTGGTTTTTCAAGCAAGCCTCTTGCTACCTAAATCATTCTCTTCGGATGTGCGTGTTTTGTTTTTCTGGAGTATGGCTGGCCAAGTGGCACGGCCGCAAGTGCCTGTGCACGCCGCGGCTCCTGTTCTGTTTGTGGCAGTTTAGCGGGGAGGACCTCGGGCCCCTTTGTCTGGGCCTCCTTAAGGCAAACAGCTGTCTCCCTGAATATTTCCAGTGTGAATGGTGCAGCGGGGTGGCCCTGTAGTCAGATCCCCCAGGCTGCAGCCTCTGCTTGGAGGTGTGGGGGACAGCGGGGAACAGGAGGAGCTTGGAGTTTGTTTCACGTCCTCCTGCCTCTGACCCAAGCCTAGAGATTCTATGGACAGTTTCACCCCAAATCTGCCTCTTTCAGGAGCGTGTTTACATTGTGGGGCCTTGTCTGGAGCTAGCAAAACAAGGTGAAGACAAAACAGCGACAGTATCTGGGGAGTACAGGCCAGCGCCGCTCCTTTTTCCGGAAATGCCTGGGTCAAGGAGGCAAAAGGGGTTTTGGGGAAACTGTTTGTTTTAAAGGGGGGGTTTCTAGGCCGACCGCGTTGCCTTTCACCTCATTGCAGTTTTGGGTTTTGTGCACGTTTTGGGGTGATGTTGCTGGAGTCAAATGCCTGTCGTCCATGTGGTTCGAGCCCCTGAGGAGAAAGAATTATAGCTGTAGAGTTCAGTTGTGTGTGAGGCAAAAATAGAGTTGATTATTTTAACATTAGGCAGCAAGGCCTGGGAGCCCCAGTGAATGTGGTGATCCAGGCCTAAAATGGAAGGAAAGGGAGGAATCTTTCTGCAGAACGGTTTTGATGTTATATCCCTGGTTTTACTGTGTGAAATACATGCCTCGGACCTCAGCGAAGCCAGTAAGTGGGCCGCTAATTATTTTTCCTGATTGCTTCCTGTTGCAATTGGAAGCTGTGAACGCACGGAAATGGCTTTGTTCTAGTGGTCCCAGTGCTGAGAACTTCCCCAGCTCCCAAGCCCTAGTCCTCTCTCCTCGGGGCCCAAGTGCTTGTTCCAGGGCCGGCCTGTCCAGGCACCCCCTCTCCCCCTGGAGGTTCCTCCTGTAGATGCCCAAGGCCAAGGCCGGGCCCTCTGGGAGAGCCCAGAAGGGCTGAGTGG | benign | 179,677 |
Located at chromosome 11 position 68312746, the variant affecting gene LRP5 (LDL receptor related protein 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGAGATCAGGTGGAAGGGGGTCGAGGCTGCAAGTGGGGACGCATGAGTGGGTGACAGGTGGCAGTAGTAGAAGTGTAAGAAGAGCTGGGAGTCTGGGTCTCTTCTATCTTGAAAATAGAACCCCAGGCTGTGCTGGTAGAGCTGGATGCAGGGTGGAAGAAGGGAAAATATTTTTGCTGCTTAAATCCTAGCCTGGCTTCCCATTGCTCGTGGGGTGCATTCTCGATTCCTCTTCCCCGCCTGAGGTCTGACATGTGCTGGCCCTGGCTGGCCTCTCCTGTACCTTCTACCACCAGCTCCAGCTCATGGCCTGATGTGGTTCCTCCCCCGAATCCAGCGACCAGGCTGCCCTCTGCCCCAGCGCCTCCTCCGTGGATGTCTGCTCTTCCTGAACTGCCCTCCCACCGGACGGCTGCTCCTTGGTAGCAGCTCAAGTGTCCTTCCTTCCCTAAGCCAGTTTCCCCAAACACTGCAGCACAACGCCCTTCATTTCTCATGGCATTCTTCATGGCCTGTCAATGGGGCTTTTGTTGTTTTAATTTTCCGTCTTCTTGTTTTTGTTGGTCTTCCTAGAATATAAACCCCATGAGGGCAGAGGCGTTCAGCCTGACTCCAGCCTGGCAAAGCTGTCACAAATCTGGAGGAACACACACGTTCACGGGCACTCAGTTCTGTGAGGTACTGCAAGCCCTCTCTGAACCTGCAAGGTGGCCATTGCTGTCCCCACTTTACAAAGGAGGAAAGAGTGCGCGGAGAGGTTCTACTTAGACCCGCCAAGGGCACAGTCGTTCTAGAAAGTAGCAGACTGGGAGTTCCAACTTGGGCTTGCTGGTTCCAGAGCCCCTTCTGTGCCCCTTCCAGGCTGTGCCTGGGTGAGATTCTTCTCCTACCAGCACGTCTTCTTCCTGGAGGGTTCAGTGGCTGAGCTGACACCGGTGGGCAAGAGGCCCTGGCGGGCTTGTTGAAGGACTCAAAGGTGGCGTCTGGGAGCCTGGCGGGACTTTCTCCCTGTCAGCCTAGAGGCACTTTTAGAGGAGTGTGTCTGTTTCGCAGTCTTCGTGTCTCATAATTCATAACTAAGGTAGAGGGTACACATTTAGTTTACAGTAAAACCTCAAACCCACCTCCACTCCCAGCCGGCCACTTCTCTCCCTGTTCCCTTCTCTGCCCTCCACAGGTGAGAACAAGTGTCCGGGGCCGCCCCGTGGGGCCCCAGGCTGCCCGCCCTGAAACTGCCTCGCTGTGTGCCCTTGGGCAACCCCGCCCTGCTCCGTGCCTCAGTTTCCCCACTCATAGAGGCTCCACAGGTGACACACCTGGCTCCGGGCCCCGATCGGCCGCCGGGCCCCGCGGGGCGGAAACCCCGCGCCAAGCCTCCCGGAGGCACCTCCAGGGCAGGGCGGGGAGCGCGGGGAGGGGCCGCGGGGACCTGCGCCGCTGGGGCCGCCTGGCCGCCGGCCGGCTCCGGGGGGCGCCCGCGGGAGGGCGCGGCCGGTGCGGGGGGCGCGGGTGGCGGCGGCGGGGGGCGGAGACGCGGCGCGGCTTCCGCTCCCGCGCGCCCAGCTCCCTCCTCCCCGTCGTCCTGGTCCGCGGCGCCCGAGGGGGGAGGCGGAGGCGCCGGGAGCCGCGCGAGGAGCCGCCGCCGCCGCGCCATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGGTAGGTGGGCGCAGGCCGGCCGGGGGCCGCGGGTTGCTCGGACAATGGCCCGGGCGGCCCCGCGGCCAAGTGCGCGGGCGCCGCCGCCGTCTCGGAAGCGACTTGGCGAGTTGGGAGCGAGTTGGGGCGCGCGCCCGGGATCCCCCTGCCGTCCCCGGCGTCCCCGCCACGCGCGGGCCCTTTGTCTCCCCACCCGGGCCCTCCCCGGGGACGCTGCGTCCCGGGCTGGCGAGGAGGGCGCCCGCTCCGCCAGGTGCGGCGCGGGCGGGTCCTCACCTGCCCGAGCCCGCGGGAAGCCGGGAGCCGAGCCGAGCCCGCGCTGGGCCCGTGTGGCCCGGGCCGGGCACCGAGCGGGGACTTGGGGCGCGGAGGCGGGCCTGGCCCGGGGAGCCGGTTCGCAAGCCTGTTTCCAGCGGCCGCGCGGCCGCCCCGCGTGCTCCGAGGACGGGCTGAAGTTGCAGCGAGAAAGTTCTGAGCCCGGGCGCGGGGCGGCCTGGCCGGTGGCGCTGCTCCTGTGAGCCGCGTGGCTGTGGGTTTCCAAGCGGACTGACACCTGCCAGGTGCCCGGGCGACCCGAATGCCCCGTGTGGCCGCCGGGTCCCCAGATAGTGTCCATCCCCGGGTCGGCTACGCGGAGGTGACGTGGTCCCAGATCGCGGGGCAGTGGGGGAGGCAGGCTTGTGCCTCAGTTGTACACTCCCGTGGGGAGAGGTAGGGCGGGGGAACTTTCTCTCCAACTTTTGGTGTTTCCCAGGGGGTGGAGTTGAGGTCAGGAGGACTCAGGAAACTTAAGCAGTCGTGAAACGCTACACATGTTCTTTTAATTTGGAGATTGCCATGTGGTTTTTCAAGCAAGCCTCTTGCTACCTAAATCATTCTCTTCGGATGTGCGTGTTTTGTTTTTCTGGAGTATGGCTGGCCAAGTGGCACGGCCGCAAGTGCCTGTGCACGCCGCGGCTCCTGTTCTGTTTGTGGCAGTTTAGCGGGGAGGACCTCGGGCCCCTTTGTCTGGGCCTCCTTAAGGCAAACAGCTGTCTCCCTGAATATTTCCAGTGTGAATGGTGCAGCGGGGTGGCCCTGTAGTCAGATCCCCCAGGCTGCAGCCTCTGCTTGGAGGTGTGGGGGACAGCGGGGAACAGGAGGAGCTTGGAGTTTGTTTCACGTCCTCCTGCCTCTGACCCAAGCCTAGAGATTCTATGGACAGTTTCACCCCAAATCTGCCTCTTTCAGGAGCGTGTTTACATTGTGGGGCCTTGTCTGGAGCTAGCAAAACAAGGTGAAGACAAAACAGCGACAGTATCTGGGGAGTACAGGCCAGCGCCGCTCCTTTTTCCGGAAATGCCTGGGTCAAGGAGGCAAAAGGGGTTTTGGGGAAACTGTTTGTTTTAAAGGGGGGGTTTCTAGGCCGACCGCGTTGCCTTTCACCTCATTGCAGTTTTGGGTTTTGTGCACGTTTTGGGGTGATGTTGCTGGAGTCAAATGCCTGTCGTCCATGTGGTTCGAGCCCCTGAGGAGAAAGAATTATAGCTGTAGAGTTCAGTTGTGTGTGAGGCAAAAATAGAGTTGATTATTTTAACATTAGGCAGCAAGGCCTGGGAGCCCCAGTGAATGTGGTGATCCAGGCCTAAAATGGAAGGAAAGGGAGGAATCTTTCTGCAGAACGGTTTTGATGTTATATCCCTGGTTTTACTGTGTGAAATACATGCCTCGGACCTCAGCGAAGCCAGTAAGTGGGCCGCTAATTATTTTTCCTGATTGCTTCCTGTTGCAATTGGAAGCTGTGAACGCACGGAAATGGCTTTGTTCTAGTGGTCCCAGTGCTGAGAACTTCCCCAGCTCCCAAGCCCTAGTCCTCTCTCCTCGGGGCCCAAGTGCTTGTTCCAGGGCCGGCCTGTCCAGGCACCCCCTCTCCCCCTGGAGGTTCCTCCTGTAGATGCCCAAGGCCAAGGCCGGGCCCTCTGGGAGAGCCCAGAAGGGCTGAGTGGGGT | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGAGATCAGGTGGAAGGGGGTCGAGGCTGCAAGTGGGGACGCATGAGTGGGTGACAGGTGGCAGTAGTAGAAGTGTAAGAAGAGCTGGGAGTCTGGGTCTCTTCTATCTTGAAAATAGAACCCCAGGCTGTGCTGGTAGAGCTGGATGCAGGGTGGAAGAAGGGAAAATATTTTTGCTGCTTAAATCCTAGCCTGGCTTCCCATTGCTCGTGGGGTGCATTCTCGATTCCTCTTCCCCGCCTGAGGTCTGACATGTGCTGGCCCTGGCTGGCCTCTCCTGTACCTTCTACCACCAGCTCCAGCTCATGGCCTGATGTGGTTCCTCCCCCGAATCCAGCGACCAGGCTGCCCTCTGCCCCAGCGCCTCCTCCGTGGATGTCTGCTCTTCCTGAACTGCCCTCCCACCGGACGGCTGCTCCTTGGTAGCAGCTCAAGTGTCCTTCCTTCCCTAAGCCAGTTTCCCCAAACACTGCAGCACAACGCCCTTCATTTCTCATGGCATTCTTCATGGCCTGTCAATGGGGCTTTTGTTGTTTTAATTTTCCGTCTTCTTGTTTTTGTTGGTCTTCCTAGAATATAAACCCCATGAGGGCAGAGGCGTTCAGCCTGACTCCAGCCTGGCAAAGCTGTCACAAATCTGGAGGAACACACACGTTCACGGGCACTCAGTTCTGTGAGGTACTGCAAGCCCTCTCTGAACCTGCAAGGTGGCCATTGCTGTCCCCACTTTACAAAGGAGGAAAGAGTGCGCGGAGAGGTTCTACTTAGACCCGCCAAGGGCACAGTCGTTCTAGAAAGTAGCAGACTGGGAGTTCCAACTTGGGCTTGCTGGTTCCAGAGCCCCTTCTGTGCCCCTTCCAGGCTGTGCCTGGGTGAGATTCTTCTCCTACCAGCACGTCTTCTTCCTGGAGGGTTCAGTGGCTGAGCTGACACCGGTGGGCAAGAGGCCCTGGCGGGCTTGTTGAAGGACTCAAAGGTGGCGTCTGGGAGCCTGGCGGGACTTTCTCCCTGTCAGCCTAGAGGCACTTTTAGAGGAGTGTGTCTGTTTCGCAGTCTTCGTGTCTCATAATTCATAACTAAGGTAGAGGGTACACATTTAGTTTACAGTAAAACCTCAAACCCACCTCCACTCCCAGCCGGCCACTTCTCTCCCTGTTCCCTTCTCTGCCCTCCACAGGTGAGAACAAGTGTCCGGGGCCGCCCCGTGGGGCCCCAGGCTGCCCGCCCTGAAACTGCCTCGCTGTGTGCCCTTGGGCAACCCCGCCCTGCTCCGTGCCTCAGTTTCCCCACTCATAGAGGCTCCACAGGTGACACACCTGGCTCCGGGCCCCGATCGGCCGCCGGGCCCCGCGGGGCGGAAACCCCGCGCCAAGCCTCCCGGAGGCACCTCCAGGGCAGGGCGGGGAGCGCGGGGAGGGGCCGCGGGGACCTGCGCCGCTGGGGCCGCCTGGCCGCCGGCCGGCTCCGGGGGGCGCCCGCGGGAGGGCGCGGCCGGTGCGGGGGGCGCGGGTGGCGGCGGCGGGGGGCGGAGACGCGGCGCGGCTTCCGCTCCCGCGCGCCCAGCTCCCTCCTCCCCGTCGTCCTGGTCCGCGGCGCCCGAGGGGGGAGGCGGAGGCGCCGGGAGCCGCGCGAGGAGCCGCCGCCGCCGCGCCATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGGTAGGTGGGCGCAGGCCGGCCGGGGGCCGCGGGTTGCTCGGACAATGGCCCGGGCGGCCCCGCGGCCAAGTGCGCGGGCGCCGCCGCCGTCTCGGAAGCGACTTGGCGAGTTGGGAGCGAGTTGGGGCGCGCGCCCGGGATCCCCCTGCCGTCCCCGGCGTCCCCGCCACGCGCGGGCCCTTTGTCTCCCCACCCGGGCCCTCCCCGGGGACGCTGCGTCCCGGGCTGGCGAGGAGGGCGCCCGCTCCGCCAGGTGCGGCGCGGGCGGGTCCTCACCTGCCCGAGCCCGCGGGAAGCCGGGAGCCGAGCCGAGCCCGCGCTGGGCCCGTGTGGCCCGGGCCGGGCACCGAGCGGGGACTTGGGGCGCGGAGGCGGGCCTGGCCCGGGGAGCCGGTTCGCAAGCCTGTTTCCAGCGGCCGCGCGGCCGCCCCGCGTGCTCCGAGGACGGGCTGAAGTTGCAGCGAGAAAGTTCTGAGCCCGGGCGCGGGGCGGCCTGGCCGGTGGCGCTGCTCCTGTGAGCCGCGTGGCTGTGGGTTTCCAAGCGGACTGACACCTGCCAGGTGCCCGGGCGACCCGAATGCCCCGTGTGGCCGCCGGGTCCCCAGATAGTGTCCATCCCCGGGTCGGCTACGCGGAGGTGACGTGGTCCCAGATCGCGGGGCAGTGGGGGAGGCAGGCTTGTGCCTCAGTTGTACACTCCCGTGGGGAGAGGTAGGGCGGGGGAACTTTCTCTCCAACTTTTGGTGTTTCCCAGGGGGTGGAGTTGAGGTCAGGAGGACTCAGGAAACTTAAGCAGTCGTGAAACGCTACACATGTTCTTTTAATTTGGAGATTGCCATGTGGTTTTTCAAGCAAGCCTCTTGCTACCTAAATCATTCTCTTCGGATGTGCGTGTTTTGTTTTTCTGGAGTATGGCTGGCCAAGTGGCACGGCCGCAAGTGCCTGTGCACGCCGCGGCTCCTGTTCTGTTTGTGGCAGTTTAGCGGGGAGGACCTCGGGCCCCTTTGTCTGGGCCTCCTTAAGGCAAACAGCTGTCTCCCTGAATATTTCCAGTGTGAATGGTGCAGCGGGGTGGCCCTGTAGTCAGATCCCCCAGGCTGCAGCCTCTGCTTGGAGGTGTGGGGGACAGCGGGGAACAGGAGGAGCTTGGAGTTTGTTTCACGTCCTCCTGCCTCTGACCCAAGCCTAGAGATTCTATGGACAGTTTCACCCCAAATCTGCCTCTTTCAGGAGCGTGTTTACATTGTGGGGCCTTGTCTGGAGCTAGCAAAACAAGGTGAAGACAAAACAGCGACAGTATCTGGGGAGTACAGGCCAGCGCCGCTCCTTTTTCCGGAAATGCCTGGGTCAAGGAGGCAAAAGGGGTTTTGGGGAAACTGTTTGTTTTAAAGGGGGGGTTTCTAGGCCGACCGCGTTGCCTTTCACCTCATTGCAGTTTTGGGTTTTGTGCACGTTTTGGGGTGATGTTGCTGGAGTCAAATGCCTGTCGTCCATGTGGTTCGAGCCCCTGAGGAGAAAGAATTATAGCTGTAGAGTTCAGTTGTGTGTGAGGCAAAAATAGAGTTGATTATTTTAACATTAGGCAGCAAGGCCTGGGAGCCCCAGTGAATGTGGTGATCCAGGCCTAAAATGGAAGGAAAGGGAGGAATCTTTCTGCAGAACGGTTTTGATGTTATATCCCTGGTTTTACTGTGTGAAATACATGCCTCGGACCTCAGCGAAGCCAGTAAGTGGGCCGCTAATTATTTTTCCTGATTGCTTCCTGTTGCAATTGGAAGCTGTGAACGCACGGAAATGGCTTTGTTCTAGTGGTCCCAGTGCTGAGAACTTCCCCAGCTCCCAAGCCCTAGTCCTCTCTCCTCGGGGCCCAAGTGCTTGTTCCAGGGCCGGCCTGTCCAGGCACCCCCTCTCCCCCTGGAGGTTCCTCCTGTAGATGCCCAAGGCCAAGGCCGGGCCCTCTGGGAGAGCCCAGAAGGGCTGAGTGGGGTNNN | benign | 179,678 |
Classify the chromosome 11 variant at position 68312746 affecting gene LRP5 (LDL receptor related protein 5) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGAGATCAGGTGGAAGGGGGTCGAGGCTGCAAGTGGGGACGCATGAGTGGGTGACAGGTGGCAGTAGTAGAAGTGTAAGAAGAGCTGGGAGTCTGGGTCTCTTCTATCTTGAAAATAGAACCCCAGGCTGTGCTGGTAGAGCTGGATGCAGGGTGGAAGAAGGGAAAATATTTTTGCTGCTTAAATCCTAGCCTGGCTTCCCATTGCTCGTGGGGTGCATTCTCGATTCCTCTTCCCCGCCTGAGGTCTGACATGTGCTGGCCCTGGCTGGCCTCTCCTGTACCTTCTACCACCAGCTCCAGCTCATGGCCTGATGTGGTTCCTCCCCCGAATCCAGCGACCAGGCTGCCCTCTGCCCCAGCGCCTCCTCCGTGGATGTCTGCTCTTCCTGAACTGCCCTCCCACCGGACGGCTGCTCCTTGGTAGCAGCTCAAGTGTCCTTCCTTCCCTAAGCCAGTTTCCCCAAACACTGCAGCACAACGCCCTTCATTTCTCATGGCATTCTTCATGGCCTGTCAATGGGGCTTTTGTTGTTTTAATTTTCCGTCTTCTTGTTTTTGTTGGTCTTCCTAGAATATAAACCCCATGAGGGCAGAGGCGTTCAGCCTGACTCCAGCCTGGCAAAGCTGTCACAAATCTGGAGGAACACACACGTTCACGGGCACTCAGTTCTGTGAGGTACTGCAAGCCCTCTCTGAACCTGCAAGGTGGCCATTGCTGTCCCCACTTTACAAAGGAGGAAAGAGTGCGCGGAGAGGTTCTACTTAGACCCGCCAAGGGCACAGTCGTTCTAGAAAGTAGCAGACTGGGAGTTCCAACTTGGGCTTGCTGGTTCCAGAGCCCCTTCTGTGCCCCTTCCAGGCTGTGCCTGGGTGAGATTCTTCTCCTACCAGCACGTCTTCTTCCTGGAGGGTTCAGTGGCTGAGCTGACACCGGTGGGCAAGAGGCCCTGGCGGGCTTGTTGAAGGACTCAAAGGTGGCGTCTGGGAGCCTGGCGGGACTTTCTCCCTGTCAGCCTAGAGGCACTTTTAGAGGAGTGTGTCTGTTTCGCAGTCTTCGTGTCTCATAATTCATAACTAAGGTAGAGGGTACACATTTAGTTTACAGTAAAACCTCAAACCCACCTCCACTCCCAGCCGGCCACTTCTCTCCCTGTTCCCTTCTCTGCCCTCCACAGGTGAGAACAAGTGTCCGGGGCCGCCCCGTGGGGCCCCAGGCTGCCCGCCCTGAAACTGCCTCGCTGTGTGCCCTTGGGCAACCCCGCCCTGCTCCGTGCCTCAGTTTCCCCACTCATAGAGGCTCCACAGGTGACACACCTGGCTCCGGGCCCCGATCGGCCGCCGGGCCCCGCGGGGCGGAAACCCCGCGCCAAGCCTCCCGGAGGCACCTCCAGGGCAGGGCGGGGAGCGCGGGGAGGGGCCGCGGGGACCTGCGCCGCTGGGGCCGCCTGGCCGCCGGCCGGCTCCGGGGGGCGCCCGCGGGAGGGCGCGGCCGGTGCGGGGGGCGCGGGTGGCGGCGGCGGGGGGCGGAGACGCGGCGCGGCTTCCGCTCCCGCGCGCCCAGCTCCCTCCTCCCCGTCGTCCTGGTCCGCGGCGCCCGAGGGGGGAGGCGGAGGCGCCGGGAGCCGCGCGAGGAGCCGCCGCCGCCGCGCCATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGGTAGGTGGGCGCAGGCCGGCCGGGGGCCGCGGGTTGCTCGGACAATGGCCCGGGCGGCCCCGCGGCCAAGTGCGCGGGCGCCGCCGCCGTCTCGGAAGCGACTTGGCGAGTTGGGAGCGAGTTGGGGCGCGCGCCCGGGATCCCCCTGCCGTCCCCGGCGTCCCCGCCACGCGCGGGCCCTTTGTCTCCCCACCCGGGCCCTCCCCGGGGACGCTGCGTCCCGGGCTGGCGAGGAGGGCGCCCGCTCCGCCAGGTGCGGCGCGGGCGGGTCCTCACCTGCCCGAGCCCGCGGGAAGCCGGGAGCCGAGCCGAGCCCGCGCTGGGCCCGTGTGGCCCGGGCCGGGCACCGAGCGGGGACTTGGGGCGCGGAGGCGGGCCTGGCCCGGGGAGCCGGTTCGCAAGCCTGTTTCCAGCGGCCGCGCGGCCGCCCCGCGTGCTCCGAGGACGGGCTGAAGTTGCAGCGAGAAAGTTCTGAGCCCGGGCGCGGGGCGGCCTGGCCGGTGGCGCTGCTCCTGTGAGCCGCGTGGCTGTGGGTTTCCAAGCGGACTGACACCTGCCAGGTGCCCGGGCGACCCGAATGCCCCGTGTGGCCGCCGGGTCCCCAGATAGTGTCCATCCCCGGGTCGGCTACGCGGAGGTGACGTGGTCCCAGATCGCGGGGCAGTGGGGGAGGCAGGCTTGTGCCTCAGTTGTACACTCCCGTGGGGAGAGGTAGGGCGGGGGAACTTTCTCTCCAACTTTTGGTGTTTCCCAGGGGGTGGAGTTGAGGTCAGGAGGACTCAGGAAACTTAAGCAGTCGTGAAACGCTACACATGTTCTTTTAATTTGGAGATTGCCATGTGGTTTTTCAAGCAAGCCTCTTGCTACCTAAATCATTCTCTTCGGATGTGCGTGTTTTGTTTTTCTGGAGTATGGCTGGCCAAGTGGCACGGCCGCAAGTGCCTGTGCACGCCGCGGCTCCTGTTCTGTTTGTGGCAGTTTAGCGGGGAGGACCTCGGGCCCCTTTGTCTGGGCCTCCTTAAGGCAAACAGCTGTCTCCCTGAATATTTCCAGTGTGAATGGTGCAGCGGGGTGGCCCTGTAGTCAGATCCCCCAGGCTGCAGCCTCTGCTTGGAGGTGTGGGGGACAGCGGGGAACAGGAGGAGCTTGGAGTTTGTTTCACGTCCTCCTGCCTCTGACCCAAGCCTAGAGATTCTATGGACAGTTTCACCCCAAATCTGCCTCTTTCAGGAGCGTGTTTACATTGTGGGGCCTTGTCTGGAGCTAGCAAAACAAGGTGAAGACAAAACAGCGACAGTATCTGGGGAGTACAGGCCAGCGCCGCTCCTTTTTCCGGAAATGCCTGGGTCAAGGAGGCAAAAGGGGTTTTGGGGAAACTGTTTGTTTTAAAGGGGGGGTTTCTAGGCCGACCGCGTTGCCTTTCACCTCATTGCAGTTTTGGGTTTTGTGCACGTTTTGGGGTGATGTTGCTGGAGTCAAATGCCTGTCGTCCATGTGGTTCGAGCCCCTGAGGAGAAAGAATTATAGCTGTAGAGTTCAGTTGTGTGTGAGGCAAAAATAGAGTTGATTATTTTAACATTAGGCAGCAAGGCCTGGGAGCCCCAGTGAATGTGGTGATCCAGGCCTAAAATGGAAGGAAAGGGAGGAATCTTTCTGCAGAACGGTTTTGATGTTATATCCCTGGTTTTACTGTGTGAAATACATGCCTCGGACCTCAGCGAAGCCAGTAAGTGGGCCGCTAATTATTTTTCCTGATTGCTTCCTGTTGCAATTGGAAGCTGTGAACGCACGGAAATGGCTTTGTTCTAGTGGTCCCAGTGCTGAGAACTTCCCCAGCTCCCAAGCCCTAGTCCTCTCTCCTCGGGGCCCAAGTGCTTGTTCCAGGGCCGGCCTGTCCAGGCACCCCCTCTCCCCCTGGAGGTTCCTCCTGTAGATGCCCAAGGCCAAGGCCGGGCCCTCTGGGAGAGCCCAGAAGGGCTGAGTGGGGT | TGAGCTACGATCACACCACTACACTCCAGCCTGGGCCACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGAGTCCCAGCAGAGAACAGCAAGCACAAAGGCCCTGAGGCAGGAGTGCACCTGGTGTGTTTGAGAACCCACAGAGACACCACTGTGGCTGGAGCAGGGTGAGATGTGGGAAGGGAGTGGCTAAGGAAGCTGAGAGGTCAAGGAAGAAGTGTGGTTGGAGCAGGCCCTGCAGGTGCCGAAGGCTTTTGCTTCTTTCCTGAGATGGCAGCCCTCACGAGCCCTGGAGCTTCCCTGGCTGCCATGAGATCAGGTGGAAGGGGGTCGAGGCTGCAAGTGGGGACGCATGAGTGGGTGACAGGTGGCAGTAGTAGAAGTGTAAGAAGAGCTGGGAGTCTGGGTCTCTTCTATCTTGAAAATAGAACCCCAGGCTGTGCTGGTAGAGCTGGATGCAGGGTGGAAGAAGGGAAAATATTTTTGCTGCTTAAATCCTAGCCTGGCTTCCCATTGCTCGTGGGGTGCATTCTCGATTCCTCTTCCCCGCCTGAGGTCTGACATGTGCTGGCCCTGGCTGGCCTCTCCTGTACCTTCTACCACCAGCTCCAGCTCATGGCCTGATGTGGTTCCTCCCCCGAATCCAGCGACCAGGCTGCCCTCTGCCCCAGCGCCTCCTCCGTGGATGTCTGCTCTTCCTGAACTGCCCTCCCACCGGACGGCTGCTCCTTGGTAGCAGCTCAAGTGTCCTTCCTTCCCTAAGCCAGTTTCCCCAAACACTGCAGCACAACGCCCTTCATTTCTCATGGCATTCTTCATGGCCTGTCAATGGGGCTTTTGTTGTTTTAATTTTCCGTCTTCTTGTTTTTGTTGGTCTTCCTAGAATATAAACCCCATGAGGGCAGAGGCGTTCAGCCTGACTCCAGCCTGGCAAAGCTGTCACAAATCTGGAGGAACACACACGTTCACGGGCACTCAGTTCTGTGAGGTACTGCAAGCCCTCTCTGAACCTGCAAGGTGGCCATTGCTGTCCCCACTTTACAAAGGAGGAAAGAGTGCGCGGAGAGGTTCTACTTAGACCCGCCAAGGGCACAGTCGTTCTAGAAAGTAGCAGACTGGGAGTTCCAACTTGGGCTTGCTGGTTCCAGAGCCCCTTCTGTGCCCCTTCCAGGCTGTGCCTGGGTGAGATTCTTCTCCTACCAGCACGTCTTCTTCCTGGAGGGTTCAGTGGCTGAGCTGACACCGGTGGGCAAGAGGCCCTGGCGGGCTTGTTGAAGGACTCAAAGGTGGCGTCTGGGAGCCTGGCGGGACTTTCTCCCTGTCAGCCTAGAGGCACTTTTAGAGGAGTGTGTCTGTTTCGCAGTCTTCGTGTCTCATAATTCATAACTAAGGTAGAGGGTACACATTTAGTTTACAGTAAAACCTCAAACCCACCTCCACTCCCAGCCGGCCACTTCTCTCCCTGTTCCCTTCTCTGCCCTCCACAGGTGAGAACAAGTGTCCGGGGCCGCCCCGTGGGGCCCCAGGCTGCCCGCCCTGAAACTGCCTCGCTGTGTGCCCTTGGGCAACCCCGCCCTGCTCCGTGCCTCAGTTTCCCCACTCATAGAGGCTCCACAGGTGACACACCTGGCTCCGGGCCCCGATCGGCCGCCGGGCCCCGCGGGGCGGAAACCCCGCGCCAAGCCTCCCGGAGGCACCTCCAGGGCAGGGCGGGGAGCGCGGGGAGGGGCCGCGGGGACCTGCGCCGCTGGGGCCGCCTGGCCGCCGGCCGGCTCCGGGGGGCGCCCGCGGGAGGGCGCGGCCGGTGCGGGGGGCGCGGGTGGCGGCGGCGGGGGGCGGAGACGCGGCGCGGCTTCCGCTCCCGCGCGCCCAGCTCCCTCCTCCCCGTCGTCCTGGTCCGCGGCGCCCGAGGGGGGAGGCGGAGGCGCCGGGAGCCGCGCGAGGAGCCGCCGCCGCCGCGCCATGGAGCCCGAGTGAGCGCGGCGCGGGCCCGTCCGGCCGCCGGACAACATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGGCGCTGTGCGGCTGCCCGGCCCCCGCCGCGGGTAGGTGGGCGCAGGCCGGCCGGGGGCCGCGGGTTGCTCGGACAATGGCCCGGGCGGCCCCGCGGCCAAGTGCGCGGGCGCCGCCGCCGTCTCGGAAGCGACTTGGCGAGTTGGGAGCGAGTTGGGGCGCGCGCCCGGGATCCCCCTGCCGTCCCCGGCGTCCCCGCCACGCGCGGGCCCTTTGTCTCCCCACCCGGGCCCTCCCCGGGGACGCTGCGTCCCGGGCTGGCGAGGAGGGCGCCCGCTCCGCCAGGTGCGGCGCGGGCGGGTCCTCACCTGCCCGAGCCCGCGGGAAGCCGGGAGCCGAGCCGAGCCCGCGCTGGGCCCGTGTGGCCCGGGCCGGGCACCGAGCGGGGACTTGGGGCGCGGAGGCGGGCCTGGCCCGGGGAGCCGGTTCGCAAGCCTGTTTCCAGCGGCCGCGCGGCCGCCCCGCGTGCTCCGAGGACGGGCTGAAGTTGCAGCGAGAAAGTTCTGAGCCCGGGCGCGGGGCGGCCTGGCCGGTGGCGCTGCTCCTGTGAGCCGCGTGGCTGTGGGTTTCCAAGCGGACTGACACCTGCCAGGTGCCCGGGCGACCCGAATGCCCCGTGTGGCCGCCGGGTCCCCAGATAGTGTCCATCCCCGGGTCGGCTACGCGGAGGTGACGTGGTCCCAGATCGCGGGGCAGTGGGGGAGGCAGGCTTGTGCCTCAGTTGTACACTCCCGTGGGGAGAGGTAGGGCGGGGGAACTTTCTCTCCAACTTTTGGTGTTTCCCAGGGGGTGGAGTTGAGGTCAGGAGGACTCAGGAAACTTAAGCAGTCGTGAAACGCTACACATGTTCTTTTAATTTGGAGATTGCCATGTGGTTTTTCAAGCAAGCCTCTTGCTACCTAAATCATTCTCTTCGGATGTGCGTGTTTTGTTTTTCTGGAGTATGGCTGGCCAAGTGGCACGGCCGCAAGTGCCTGTGCACGCCGCGGCTCCTGTTCTGTTTGTGGCAGTTTAGCGGGGAGGACCTCGGGCCCCTTTGTCTGGGCCTCCTTAAGGCAAACAGCTGTCTCCCTGAATATTTCCAGTGTGAATGGTGCAGCGGGGTGGCCCTGTAGTCAGATCCCCCAGGCTGCAGCCTCTGCTTGGAGGTGTGGGGGACAGCGGGGAACAGGAGGAGCTTGGAGTTTGTTTCACGTCCTCCTGCCTCTGACCCAAGCCTAGAGATTCTATGGACAGTTTCACCCCAAATCTGCCTCTTTCAGGAGCGTGTTTACATTGTGGGGCCTTGTCTGGAGCTAGCAAAACAAGGTGAAGACAAAACAGCGACAGTATCTGGGGAGTACAGGCCAGCGCCGCTCCTTTTTCCGGAAATGCCTGGGTCAAGGAGGCAAAAGGGGTTTTGGGGAAACTGTTTGTTTTAAAGGGGGGGTTTCTAGGCCGACCGCGTTGCCTTTCACCTCATTGCAGTTTTGGGTTTTGTGCACGTTTTGGGGTGATGTTGCTGGAGTCAAATGCCTGTCGTCCATGTGGTTCGAGCCCCTGAGGAGAAAGAATTATAGCTGTAGAGTTCAGTTGTGTGTGAGGCAAAAATAGAGTTGATTATTTTAACATTAGGCAGCAAGGCCTGGGAGCCCCAGTGAATGTGGTGATCCAGGCCTAAAATGGAAGGAAAGGGAGGAATCTTTCTGCAGAACGGTTTTGATGTTATATCCCTGGTTTTACTGTGTGAAATACATGCCTCGGACCTCAGCGAAGCCAGTAAGTGGGCCGCTAATTATTTTTCCTGATTGCTTCCTGTTGCAATTGGAAGCTGTGAACGCACGGAAATGGCTTTGTTCTAGTGGTCCCAGTGCTGAGAACTTCCCCAGCTCCCAAGCCCTAGTCCTCTCTCCTCGGGGCCCAAGTGCTTGTTCCAGGGCCGGCCTGTCCAGGCACCCCCTCTCCCCCTGGAGGTTCCTCCTGTAGATGCCCAAGGCCAAGGCCGGGCCCTCTGGGAGAGCCCAGAAGGGCTGAGTGGGGTNNNNNNNNN | benign | 179,679 |
Clinical significance of chromosome 11, position 68347964, gene LRP5 (LDL receptor related protein 5): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_dominant_osteopetrosis_1', 'Bone_mineral_density_quantitative_trait_locus_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts', 'Retinal_dystrophy', 'Worth_disease'] | TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTT | TAGGGATATATTAAGCCTGTTTTGATGTGTTTATTGGCCATTTATATGTCATCTTTGGAGAAATGTCTGTTCAAGTTGTTTGCCCATTTTTGAGTTGGCTTAGTTGTTTTCTCATTGTTGAGTTTTAGGAGTTCTCTGTATTTCATGGATATTAATCTCTTAGTAGATCTATGATTTGGAAATATTTTCTCTCATTCTGTGGGTTGCCTTTTTACTCTCTCGATAGTGTCTTTTGATGCACAAAATCTTTAGCTTCCCATGAAGTCCCGTTTGTCTTTATTTGTGGCCTATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTAACAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTT | pathogenic | 179,683 |
Is the genetic change at chromosome 11, position 68348253, within gene LRP5 (LDL receptor related protein 5) benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTCATTCAGTGTCACCACAGTCTCTCAGCACTCCCAGCCTGGACCTCACCGGTTGAGGGGCCGGCCTAGATCTTCTTTGCGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCGTGCACTACCACACCTGGCTAGGTTTTGTATTTTTAGTAGACACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGTGATCCACCCTCCTCGGCCTCCCAAAG | ATGCCTTCCTGTTGTTTGACTTTCACAGTGTCCCTCGTTGCCACAAAGAACTGTAGACCTAAGATGATGACAGCACGGGTGGGGCGGCGGAGGCGCCGCTGTCATTTTCCTGGCCTCAGGTCCTCTGTGTGTCCTCCCATCCTGTGGAGCATGTCTCCTGGGAATGGGAGGGGCCAGGATTTGAGCCAGTGCTTGTCTTGGCAGGGAGGCCTGTGCTCGGAACCATCTACCCCACTGCGCTGGGGTCTCCTGGGCCATGCTCTGGCCCTTTGTGTTCCCAGCTACCCTCATAGAGGCTGCAAATCTTTCCCCTGCTGAAATGAAACCAACTGAACTAACTACAGGATTCAGTTCTGTGATTGTCATTGGCTGAGTTGAGTTTGTTTTGGCTTTCTCTTTCTTGGTGAAGGTGGGAGTGTGGGGTTGGCTGGGCTCCCCCATCTGCGCAGGAGGACCCAGGGGTCTGCAGTTTTCATGAGGAATGTCAGCTGTTTCAAGCCAAGGCTTCAGATGTTTTTTGGGGGTGTTTGTGGCCAGCCCAGCCTAGCCCTGCTGACAGCAGACACGGACTGATGGAGCTCCCTGGAGGCCCTTAACCTCCTCCTGTCCACATCTTGTGTTCACTCCTCATGTGGCTTCTTAGTCCCTCTGAGTCTGTGTTGGGGGTTGCTGGACCCTCCTGGTCCGACGTCTGAGGTGTCTGGTGGGGTGATGGTCTGAAGGCCTCTCCTGATTTCTCATTGAGCCCGTTGTGGGAATGAGACCGTTGTCTGTGAGATGAGGCTTCTTGCACAGGCAGAAGGGGCTGAGGGCTGCGGTGCAGAGGGAGGTGAGGGAGCCAGCCTGGCCGCAGGCAGATCAGGAATGCTTGGGGTGGGGTGGTGGAGAGAAGTGTAGGTGAGGCCAGAGGCCAAGGCCTTGGAGGCCAGGCTAGGGGGTCTGACCTTGTTCTGCATGGCACTGGCACAGGGAGCTGTGGAAGGTGTCTGAGCCAAGGGGTGGCATTCCAGAGTGACCCTTTAAATGTAGGAATGTCCAGAAGCAGGGTGGGAGAAACATGGAATACAGGGGTGGATGGGAAGCTGATGCCACGGCCAAGGAAACGGGCCTGAGCTTGGACAGTGGTCAAAGACTTGTAAGGGAATCTTGAGGCTCTGTCTGGCCTGGGCTCTGAACCCCTCAAAAAATGTGGCCCTGTGGCTGGGTCTGTAGCGAGCAGCATGGCCAGTGCTGTGCCTGCATGTCCCCATCCCCTGTGTCAGGCCAACAAAGGGGATGTGGCTTCTCTGCAGAACAGGACAGGGCCCCTGTAGCCTCTGGAGGACGATGTGGGAGGTTTTGGGCATGGCAGGAAGGGTCACCCATATCTGGGGGAACAGACGTAACAGTTGGTAAACAAACAGGTGCTGTCACCGAATGTGGGAAGAAGGCTGTTTGCTGCGCTGCAGGAGCCTCTGAATGATGCGGGCCGGGGCTGCCCAGGCAACTTCCTGACAACGCCTTAGGGGTGGGAGGAAGGAACTGGAGGTCTTGGGCATGGGCAGGGCAGTACCAGGAGTGCTCTGGGCATAGTGCTCCATCCCAGGGCTGTGTATCTTGCTGGCTTAGCCAGTGGCCCTCACGGTTTGCTTCTGCCCCACAGCCTCGCCGCTCCTGCTATTTGCCAACCGCCGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGCGGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACAGACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAGAACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAGAAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACATCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCCGCTCACGGGTAAACCCTGCCTGCGACTCCACCTGGGTCCAGGGGGCGGGGAGTGTCACCATCTCTCTCTCGAATTTGCATGAGCCCAAGTTGTTTTTCAGAAAAAGGGTGTGACTCTGAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACTCGTGGGGGGGTTGGTTCAGGCCTGTAACCCCAGCACTCGGTGTCACTCTTAAAATGAACCCGTGGGGGGGTTGGCTCAGGCCTGTAACCCCAGCACTCGGTGCGACTCTGAAAATGAACCCGTGGGGGTGTTGGCTCAGGCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCGGGCAGATCACCTGAGTCCAGGAATTCAAGACCACACTGGGCAACATGGTGAGACCCCATTTCTACAAAGTATACAAAAATGAATCGGGTGTGATGGTATGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGGTAGGAGGATCATTTGAGCCTGGGAGATCGAGGCTGCAGTGAGCTGTGATCCCACCACTGCACTCCAGCCTGGGCGACAAAGTGAGGAGATCCTGTCTCAAAAAAAAAAAAGAGCTCAGCTTTCAAGATTTGTTATTGTTGAAGGAATTACTTCCCCTTGAGATTCCATAGTTATGTTCCTTTTTTTTTTTTTTTTTTTTAATTGAGATGGAGTCTCCCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTTCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCAGCTAATTTTTGTAGTTTTGGTACAGATGGGGTTTCACCATGGTGTCTAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCGTGCCTGGCCCATAGTTATGTTCCTTTTTAAAACTTGCATGTCTGAGGCAACCGATGTGGTTGGCCATGGGTTTGAATGGTTAAACACATCTTTGCTGTGTGTATGGTGGGCGGCCTGGGAAGTGCGGACGCTCAGGCAGGTGGAATTTGCACCTTCTCCTGGCTTTCTAATTGCATTGGCTGAAAAAGTGCAGCTCCTTGTCTGGAAGCAGAACCTGCTGGGAGTGGTTCTCGGGTCCGTTCTGGAAGCTGCCCTGTGTCCTCCTCAGCTCCTAGTCTGGCTGAGTTCACCTGGGCCCTTGAAGGCTCAGGGCCTGGCCGTGATCCCAGGTGGGGAGAGCGTGGGTGGCAGGAAAGCTTTGGAGTCGAAGTCCGGGGTGGAGAGTTTAAGGGGAGGTGGCCCAGCTCCACTGGCCAGCTAGGCCAGGTCACCCCAGACTCCCGAGCAGAGGGAACAGTTTGCTTGGCCACCCCTTGTCCCTCCTTTGTCCCTTTTCTTGCAGCCTGGGAGTGACTCTGGGGGCCGTACACACACCCTTACCTGGGCTGTGCTAAGCCCTGGCCCTTGCTGACCTGTCAGGTTCTGTGCTGGGTCAGTGTCAGAACTGGTTGGCAGAGGTCTTGACTAGAACACAAGAGCCATTTCCCACCACCCCCAGGCTCAGTTGGAAGCCCTTTGCCTGTTAGTTCATTCAGTGTCACCACAGTCTCTCAGCACTCCCAGCCTGGACCTCACCGGTTGAGGGGCCGGCCTAGATCTTCTTTGCGCAATGGCACGATCTCAGCTCACTGCAACCTCCACCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGTGATTACAGGCGTGCACTACCACACCTGGCTAGGTTTTGTATTTTTAGTAGACACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGTGATCCACCCTCCTCGGCCTCCCAAA | benign | 179,692 |
A genetic variant on chromosome 11, position 68363899, affects the gene LRP5 (LDL receptor related protein 5). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic | GAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACATCAGAGGCTGTATATTGTGATTCCGTTTATATGAGATGTTGAGAATGTGTGTAGTTAAGTCCATCAAAAGTGTTTGCCGGGGCTGGGGGCGGGGACTGGGGAGTGACTGCTGCCGGGTGTGGGGTTTGCCTGTGGGGCAATGGAAGTGCTTTGGAACTAGACAGAAGTGGAGGCTGCACCGCCTTGCGAATGCACTAGGTAACACTATTCACTTTAAAGTGGTAAATTTAGGCTGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGGCTTCAAGACCAGCCTTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAGATACCCCCCAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGGCGGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCATCTCCAAAAAAAAAAAAAAAAGTAAACGTATGTCCTGTGAATTTTACTTCAATAATTTTCTTAAAAAACAGCATCAACAAAAATGAACAGAAGAGGTGGTGGATCTGCAGAGCCCACAGCTCCCATCTTCCCTGTGCCACTTCATGAGTGTCACCCTCTCCTGGCAACTGTGCTGAGGGCTGGGGACGTGGCGGGGACCCTCTGCCCCCAGGCCCACCCTCAGGGAGCCTGTCACGGGGCGAGGGTCATTAAGCAAATAAAACTGCACATTACCGACCACGTCACATTATGATCCTGTTTCCAGTGTCCATAATCTCATTACACCCGAGTCCTCATTTGCTGGGCACTGTAAGCATCTAGAAAAGAATAGCTGTTTCTCGGGTTGATGCCAAGTTTCATTTACTCTGAAAGTATAAATTATGAGCATTGTAAGAAGGAGCGAGTGCACATGGCCTGATTTGTATACAGAGGTTAAAGCGTTGGGCAGGAGAGGTGTGCTTTTTGCCAGGCATGGCTTCCTCCTTTCTTCCCTGGGGGAGACTTTGCCACTTGACCTGGGGGAGCCCGTGTGTCACCATCACAGGCTGTGTTTGGGAGGTGCCCTGTGCACGCCGGGAGAAATGTACGAGGGCGCCAGCTCCTGGGGCTCTTGACCTGGCCTCACTTGTCTGGTTGAAAGCAAATGGGAAGCCTGGCATGGTGGCGCACGCCTGTAATCCCAGCGCTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATCATCTGGGCGTAGTGGTGGGCATCAGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTACATCACTGCACTCCAGCCTGGGCGACAGACCGAGACTCCATCTCAAAAAAAAAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCAAGTCTGTGGTCCCAGCTACTCGGGAAGCTGAGTTGGGAGGATTGCTTGAGCCCAGGAGGTCAATCCTGTTTTGTTTTGTTTTATTTTTGCCCCAGATATTTTCCACTT | GAAAACAGTTTGTTGATTCCTTGAGACGTAAACATTGATTTACGTATGACCCAGCAATTCCGCTCCTAGCTGTATACTCTTAAGAATCGAAAACAGGTCTTCACACAAAATGTGAATGGACAGTAATGTCCGTAGCAGCACTGTGCACAACAGCCGAGGGTGGAAATGACACAAAGGTCCCCCAGTGGGTGAATGGATGCACAGATTGGGTTCTGTCTGCACACTGGAATATGGTTCACCCCTAAAACGGGATGAAGCACTGACATGCTACAGCCTGGATGAACCTCGAAAACATGGTGCCAAGTCAAAGAAGACAGACATCAGAGGCTGTATATTGTGATTCCGTTTATATGAGATGTTGAGAATGTGTGTAGTTAAGTCCATCAAAAGTGTTTGCCGGGGCTGGGGGCGGGGACTGGGGAGTGACTGCTGCCGGGTGTGGGGTTTGCCTGTGGGGCAATGGAAGTGCTTTGGAACTAGACAGAAGTGGAGGCTGCACCGCCTTGCGAATGCACTAGGTAACACTATTCACTTTAAAGTGGTAAATTTAGGCTGGGTGCAGTGGCTTATGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGCGGGTGGATCGCCTGAGCTCAGGGCTTCAAGACCAGCCTTGGGCAACATGGCGAAACCCTGTCTCTACCAAAAAGATACCCCCCAAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTGGTCCCAGCTACTCTGGAGGCGGAGGTGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAACCTGGGTGACAGAGTGAGACCCCATCTCCAAAAAAAAAAAAAAAAGTAAACGTATGTCCTGTGAATTTTACTTCAATAATTTTCTTAAAAAACAGCATCAACAAAAATGAACAGAAGAGGTGGTGGATCTGCAGAGCCCACAGCTCCCATCTTCCCTGTGCCACTTCATGAGTGTCACCCTCTCCTGGCAACTGTGCTGAGGGCTGGGGACGTGGCGGGGACCCTCTGCCCCCAGGCCCACCCTCAGGGAGCCTGTCACGGGGCGAGGGTCATTAAGCAAATAAAACTGCACATTACCGACCACGTCACATTATGATCCTGTTTCCAGTGTCCATAATCTCATTACACCCGAGTCCTCATTTGCTGGGCACTGTAAGCATCTAGAAAAGAATAGCTGTTTCTCGGGTTGATGCCAAGTTTCATTTACTCTGAAAGTATAAATTATGAGCATTGTAAGAAGGAGCGAGTGCACATGGCCTGATTTGTATACAGAGGTTAAAGCGTTGGGCAGGAGAGGTGTGCTTTTTGCCAGGCATGGCTTCCTCCTTTCTTCCCTGGGGGAGACTTTGCCACTTGACCTGGGGGAGCCCGTGTGTCACCATCACAGGCTGTGTTTGGGAGGTGCCCTGTGCACGCCGGGAGAAATGTACGAGGGCGCCAGCTCCTGGGGCTCTTGACCTGGCCTCACTTGTCTGGTTGAAAGCAAATGGGAAGCCTGGCATGGTGGCGCACGCCTGTAATCCCAGCGCTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTTGCCAACATGATGAAACCCTGTCTCTACTAAAAATACAAAAATCATCTGGGCGTAGTGGTGGGCATCAGTGATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTACATCACTGCACTCCAGCCTGGGCGACAGACCGAGACTCCATCTCAAAAAAAAAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCAACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCAAGTCTGTGGTCCCAGCTACTCGGGAAGCTGAGTTGGGAGGATTGCTTGAGCCCAGGAGGTCAATCCTGTTTTGTTTTGTTTTATTTTTGCCCCAGATATTTTCCACT | pathogenic | 179,709 |
Assess the variant on chromosome 11, position 68365712, impacting LRP5 (LDL receptor related protein 5): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | benign | AAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCAAGTCTGTGGTCCCAGCTACTCGGGAAGCTGAGTTGGGAGGATTGCTTGAGCCCAGGAGGTCAATCCTGTTTTGTTTTGTTTTATTTTTGCCCCAGATATTTTCCACTTTTTTACTCTCCGCCTTGGTCCTCAGGCACTTGGTGCTTCCTGGGACTGTGTTGCAGTGAGGCATGGCTCTTCTCCTCTGGGGCACCGGCTGAGGATCTTTCTTTCCAGGTGTCGGTTCGGGGCGGGCCCTTCGGGAAATCACACACGTTCAGGATGCAGCTCGCCTTCGGGGATGCTCCCGGGCCTGGGATAGCCAGTCTGGCCTCTGGGGCTGACCCTGGGGCCTGGCAAGCGAGGGGGTAACGAGAGGTGTCAGGAAAGCGCCATCCCTGGGACCAGTCCTCCCCGTTTCTGTAGCGTGATGGGGCCCAGCTTGCAGAAGGTGGTGGGGGACAGGGCCTGCTTCCTGTGCCGGTGTCCCACTCGGGAGGGCAGGGGGCTTCCAAGTGGGCTGGCTTCCACACTCAGGAACAGTCCTAAGGGCAGAGTCTCGGTGTGGGGCCCCCTAGAAGGACTCTCCTGGCATCCGGTGGATGGAGAAGTGTCCTTGCTCTCACTGCTGTCTGAGCACATGGGGGTCCTGACTTTAGGAACAGTTTCCTGGTCCCCCTGTTCTTGCTGGCTAGGGTCTGTGTTTGTGTGCAGCGGCTGGGGTGTGTGTGTGGTCGTGGCGCCCGTGGCGTGTGGGTCTTTTCTCTGCTCCCTGGCAGGGGTCCTGCGTTTGGTGAGGATTTTCCAGGTTTGTATTTGTCTTTCTCTTTCTGAGAGCAGGGCATCTTTAATGAAGACATGGCTGTTACATCAAAGGGTCTGTCCGCTGTGCCGGCTGCTGCAGGGGATGGTTGGAGAGCCTCCCCGACCAAGCATCTTGTTTCCCAAGTCGGGAGAAGGAGAATTTGAGAAATGGGGACTTGGGCGGCCTAGTCCTCACGGCTCTGGACAGCACCCCATTCATTCATCTGCTTGCTCATTCATTCGTTCATCCATCCATTTGCTCATTCAGCAGGCATTTGTCGAACACTTGCCGGGTGCTGGCATTGCTCCGAGGCACTGGGGACCCCGCGGTGCAGACAGAATCCCGGGCCTCTGGCGCTCGCACTCTGGGCTCTGGGGCTGGGTGGGTGGGGGAGACGGCACAAGTGAGTCCACGAGGGAGTCAGTGCATTAGAAAGGGTGAGTGTCTTGGACACCCGCTCCTCCATCACCTCTGGGGCCCTTCGCTGTTGACCGTTCACCTCGGCCTCAAAGGCAATGTTGAGAGAGAAACTGGACCCAGGGAAGGAGTCCAGATGAGCTGCCTCCTGAGTGACCTGGCGACACCAGGGGTTTGGACCAAGCAGGTTAAGGGAGGATTATAGACCCTTGAAGGGGAGGAGTGGTTTGACCAGGTTGGATGAGCCCTTTGTTTACAGAGGAGGCCAGGGCAAGTCACCAGCCTGGGGTTGCCCACAGCAGGTGGCATAGTAGGTTCTAGCAGGTGGGGTCTGGCTCCCAGAGCCATGAGTTTGCTGCTGCCCCATACCTGGGCCCTGGTGGAGCAAGGCCCTGGTCTCCCTCGCAGACTGCCCCAGGACGCTGCCTGCTCCCTGGAGGAGGGGGTGCCTCGGCTGCACAAGCCTCAGCGGAGAAGGATGCTTGGCTTGCTGGCTGCCCGGGAACCTTGGCCTTCTCAGAGTTTGTTTTCTTTCCTGCCTGTCTGTTGGTGAGAAGAGGCTGAACTCAGTGCTGGAGCTGGACCCTGCGCTCTGCAGTGTTGGTTGAAGTCCTGGCGGAAAGGGAAAGAGTGAGGACATACGGGCTCATGACGGCAGGGAGTGGCCACCACAGTCAGGGCCGGGGGACGGAGGGGAGAGAGAATCACCGGAATATGGCA | AAAAAAGAAATTAATTGGGTCAGCAGCAATGACTGTCGGGGGACCCTCCTGATGGCTCCTCCACCCCGCTTCCCTGACTGCAGGCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCCTTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATCCATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCACCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCTGTGAGTGCCGGCTGGGGCGCGGGGGCGAGGGTGCGGGGGCTGGGGGGAGCGGGGGCGCGGGGCAGGGGAGTGGGAGGATGCGGGGGCGTGGGGGTGCGCGGGCGTGGGTGGGGTGGGGGGGCAGGTGACCCCTCCCTGCAGAAGCCCATGCTCTGGGGGGCCCCCTCTCTAAAGGGGTACCTGCTGCAATGGAGGGAGGTGTGTGGCTGGCTGGGGGACACGGGCCTGCAGAGGACCCCTCTGCAGAGCTCATGGGGGCTATTTCAGGCTCAGCAGTGGCAAGGGGATTTCCAAGGAAGGTTGCCTCGTTTTCAAGGCCCAGAAGAAGTTGTCTGTGTGTGTGTGTATATGTATTTATATACACATACACGTATGTGTGTATATATATATATGGTTATTTATATATACATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTATTTTTAATAGAGATGAGAGATTTTGCCACGTTGCCCAGGCTTGTCTCAAACTCCTGGGCTCCAGTGATCCTCACACCTTGACTTCCCAAAGTGCTGGGGTCACAGGTATGAGCCACCATGCTTGGCCCTGCAAGTCGCGTATTTATCAATGAATAATCTGCCCAGAATCAGCAGTTCTCAGCCTGGGGGCCACGCTGGGTTGTGACAGAGGTCCCTGATGGGGAAATGCACCAGCTTCTGTGACAGTGGGGCTGCGGCTCTGGGGACAGTGGCCCACTCCCACAGGGACCAGGGATGGAGATTTCTGGCCAGGCCATTATGGAAGGTTTGGACTTTGAATTGAAATGTGGGGCCTAGGGGTGCCAGCTGTTCCCAGAGCAGGACACAGGAGGGTGGGGCTCTCTGGAGCTGTTTCCTGGTGAGAAAGTCGTGGTCACAAAACCCATCTACACTTGGGGCAGCATGAGGGAGGGAGAGGTTCATTTTGATGAGTTTGTTGTTCCAGTTATATCCGTATTTTGGGGCTGCTACACCCAGCTTTCCCCTGGTTTGAATGAGGTGCTGGAAGCATTTATCGAGTTCCGTTCAATTGCTGTTGGTCATAGAAGGGCTTGGGAGAGTGACAAGCTTGGCCATCCCAGCAAGAGGGACAGTGTTCCTATGGAAGCTGCTGGGTCCACACATAGCACAAAGACAAGACAAGCCTTTTGCCCAGGAGCCCATTGTCTCTGGGGTTCCCGTCACTACCACACAGGCAGGTCCTGACCCCGGCCATTGGAGCGTGGGGGGCAGCCTTTGCAGAGGGGTGTCCTTTGGGGGCTCCGAGGAGCTGGGGAGGGTGTTCTAGTCATAGGAGCTTGGTGGGAGGAAGCAGATGGGGAGATGTCACTCCATGGGCAGGTCACATCTGGGTGTGAGGGTGGCCAGGAAGGTCACGGCTGGTTTTGGGGAAATTGCAGGCCGTCTGGCCAGGCTGAGGGCCCCATGTGGACGGGCCAGCGATGAGGCAGGTGGAATGGTGCCAGCGGGGAGGTCCCTGATGCCACTTGAGGCCGATGTTTGGGCAGAGGGACACACTGGAGGCTGTCACGGGGGACGAGGCAGGATGTGACTCATTCAGAAACAAGTGACGGTCCTCTTCTGGAACCTTCTCTCACTCTGTCCTGGTTTTCTCAGTCCACACTCGCTGTGAGGAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACATGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAGGTGAGGCGGTGGGACGGGGCGGGCGGGCGGGGCGGGGCCTGGCGGGAATGGGTTGCGGCCGCCGGGGGTGCCCCAGAAGGAACCTCGGCAAACCCGTTCGAAATGATCCACTTGGCGGGTGTGGTGATTCAAGTCTGTGGTCCCAGCTACTCGGGAAGCTGAGTTGGGAGGATTGCTTGAGCCCAGGAGGTCAATCCTGTTTTGTTTTGTTTTATTTTTGCCCCAGATATTTTCCACTTTTTTACTCTCCGCCTTGGTCCTCAGGCACTTGGTGCTTCCTGGGACTGTGTTGCAGTGAGGCATGGCTCTTCTCCTCTGGGGCACCGGCTGAGGATCTTTCTTTCCAGGTGTCGGTTCGGGGCGGGCCCTTCGGGAAATCACACACGTTCAGGATGCAGCTCGCCTTCGGGGATGCTCCCGGGCCTGGGATAGCCAGTCTGGCCTCTGGGGCTGACCCTGGGGCCTGGCAAGCGAGGGGGTAACGAGAGGTGTCAGGAAAGCGCCATCCCTGGGACCAGTCCTCCCCGTTTCTGTAGCGTGATGGGGCCCAGCTTGCAGAAGGTGGTGGGGGACAGGGCCTGCTTCCTGTGCCGGTGTCCCACTCGGGAGGGCAGGGGGCTTCCAAGTGGGCTGGCTTCCACACTCAGGAACAGTCCTAAGGGCAGAGTCTCGGTGTGGGGCCCCCTAGAAGGACTCTCCTGGCATCCGGTGGATGGAGAAGTGTCCTTGCTCTCACTGCTGTCTGAGCACATGGGGGTCCTGACTTTAGGAACAGTTTCCTGGTCCCCCTGTTCTTGCTGGCTAGGGTCTGTGTTTGTGTGCAGCGGCTGGGGTGTGTGTGTGGTCGTGGCGCCCGTGGCGTGTGGGTCTTTTCTCTGCTCCCTGGCAGGGGTCCTGCGTTTGGTGAGGATTTTCCAGGTTTGTATTTGTCTTTCTCTTTCTGAGAGCAGGGCATCTTTAATGAAGACATGGCTGTTACATCAAAGGGTCTGTCCGCTGTGCCGGCTGCTGCAGGGGATGGTTGGAGAGCCTCCCCGACCAAGCATCTTGTTTCCCAAGTCGGGAGAAGGAGAATTTGAGAAATGGGGACTTGGGCGGCCTAGTCCTCACGGCTCTGGACAGCACCCCATTCATTCATCTGCTTGCTCATTCATTCGTTCATCCATCCATTTGCTCATTCAGCAGGCATTTGTCGAACACTTGCCGGGTGCTGGCATTGCTCCGAGGCACTGGGGACCCCGCGGTGCAGACAGAATCCCGGGCCTCTGGCGCTCGCACTCTGGGCTCTGGGGCTGGGTGGGTGGGGGAGACGGCACAAGTGAGTCCACGAGGGAGTCAGTGCATTAGAAAGGGTGAGTGTCTTGGACACCCGCTCCTCCATCACCTCTGGGGCCCTTCGCTGTTGACCGTTCACCTCGGCCTCAAAGGCAATGTTGAGAGAGAAACTGGACCCAGGGAAGGAGTCCAGATGAGCTGCCTCCTGAGTGACCTGGCGACACCAGGGGTTTGGACCAAGCAGGTTAAGGGAGGATTATAGACCCTTGAAGGGGAGGAGTGGTTTGACCAGGTTGGATGAGCCCTTTGTTTACAGAGGAGGCCAGGGCAAGTCACCAGCCTGGGGTTGCCCACAGCAGGTGGCATAGTAGGTTCTAGCAGGTGGGGTCTGGCTCCCAGAGCCATGAGTTTGCTGCTGCCCCATACCTGGGCCCTGGTGGAGCAAGGCCCTGGTCTCCCTCGCAGACTGCCCCAGGACGCTGCCTGCTCCCTGGAGGAGGGGGTGCCTCGGCTGCACAAGCCTCAGCGGAGAAGGATGCTTGGCTTGCTGGCTGCCCGGGAACCTTGGCCTTCTCAGAGTTTGTTTTCTTTCCTGCCTGTCTGTTGGTGAGAAGAGGCTGAACTCAGTGCTGGAGCTGGACCCTGCGCTCTGCAGTGTTGGTTGAAGTCCTGGCGGAAAGGGAAAGAGTGAGGACATACGGGCTCATGACGGCAGGGAGTGGCCACCACAGTCAGGGCCGGGGGACGGAGGGGAGAGAGAATCACCGGAATATGGCANNNNN | benign | 179,715 |
Does the genetic variant at chromosome 11, position 68386670, impacting gene LRP5 (LDL receptor related protein 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Exudative_vitreoretinopathy_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts'] | CACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGAAGGTTCTGCTCTGCCCCTTCCTCCCTCTAGGTGCTCAGCTCCTCCAGCCCACTAGTCAGATGTGAGGCTG | CACTTGCAATTTCTGTAGGAAGCTCTGATAAATCCAAACTGGGGGTCCTAGGACACAGTCAGAAATGCTGATACCGTTGTGTGTGGAGCCTCGGGCCCTGGGGGTCAGGAGCATGTGGAGGGTGGGCCACGGGGGTTCAGAAGAGAATCCTGTAACCCCCCACCCCCCAAACTGAAGCCCACTTGAGGGCCATGGCTGAAAGGTTGGGGGGTCTCCGTGCGTCCTGTGGAGTGGGTGGTGAGGAGTCCTTGGGTTTGCACGCCTCTGGGCCTGAGCGGCGGGACCCCGTCCACAGCGGATCCCTGGGCCCTGTTGCTCAGATGCTCTCAGAGTGTTGCTGTGGCCACGGAGGGAGCCTGAGTTAAGCTTCTCTTGTGCCGGTTGTACGCTGTCAGGTCACACTGGTGAGTTAGGCAGGGCACAGATGCCCAGAGCAGAGGGAACTTTCCTTGGGGATTCAACACGTGCAAGTCTTAGGGGCTGGCAAATCCTGCCCTCAGCTAGAGAGGGGGCTTTTATTTGAGACCAGAATCACCTGAGCATCCTCCTGTCCCCAGCTGTGTCCAGCCTGTCTGCAGGGACATCCTGAGAGGACCAGGCTCTCCCCTCATCCACCTGCCTAAGTGCCACTCTGAACCCTGTCCACCTGTGCCGTGGAGGGGCGTGACCTCAAGCTGCTCAGCCAGCAGCAGGCTTGGCCCTGGGGGGCAGCAGAGACCCAGGTGGCTGTGGGGTGGGTGCTTCGTGGCGTGGTTCTGAAACTTCGTTGGAAGTGTGTGGACAGTGCCTTGCCTGTTCTCTGTGGGACCCTATTTAGAAACGAGGTCTGAGTTACTGGGGGTCATCACTGTGTTCTGATGGCCCAGCTGTGTGGAGGCCGCGGTGCAGCCCCATCCAAGGAGCCAGGGCCCTGGGTCTAGCCGTGACCAGAATGCATGCCCCGGAGGTGTTTCTCATCTCGCACCTGTGTTGCCTGGTGTGTCAAGTGGTCGTGAAACTCTGTGTTAGCTCTTGGTGTTCCTGAAAGTGCCCCCGGGTCTCAGGCCTCAGAACCAGGGTTTCCCTTCATCTCGGTGGCCTGGGAGCATCTGGGCAGTTGAGCAAAGAGGGCGATTCACTTGAAGGGTGTGTCTGGCCCTGCCTAGGAGCCCCCCGGCACGGTGCTGGGGCCTGAAGCCGCCCTCGGGTGGTGGAGAGGAGGGAGCGATGAAGTGGCGTCGAGCTGGGCAGGAAGGGTGAGCCCCTGCAAGGTGGGCATGCTGGGGACGCTGAGCAGCATGGCCAGCAGCTGGGTCTGCAGCCTGGTACCCGGCGGGACTTGTGGTTGGGGCTGGTTTGTGGCCAGGAGAGGGGCTGGCAGGAGACAAGGGGGACTGTGAGGCAGCTCCCACCCAGCAGCTGAAGCCCAATGGCCTGGCTGTGTGGCTCTCAGCTGCGTGCATAACCTCTCAGTGCTTCAGTTCTCTCATTTGTAAAATGAGGAAACAAACAGTGCCAGCCTCCCAGAGGTGTCATGAGGATGAACGAGTGACCATGTAGCATGGGCTGGGTGCGTGTCACCTAACATCACCAGCCTTTGCAAGGAGAGCCCTGGGGGCCTGGCTGAGTATTTCCCTTGCCCGGCCCACCCCAGGCCTAGACTTGTGCCTGCTGCAGGCCCTTGACCCCTGACCCCATTGCACCTGTCTCCACAGGAGCCGAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCGGACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTACGACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCGTACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGCATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATCGAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACTGGACGAGCCCCGAGCCATCGCACTGCACCCCGTGATGGGGTAAGACGGGCGGGGGCTGGGGCCTGGAGCCAGGGCCAGGCCAAGCACAGGCGAGAGGGAGATTGACCTGGACCTGTCATTCTGGGACACTGTCTTGCATCAGAACCCGGAGGAGGGCTTGTTAAAACACCGGCAGCTGGGCCCCACCCCCAGAGCGGTGATTCAGGAGCTCCAGGGCGGGGCTGAAGACTTGGGTTTCTAACAAGCACCCCAGTGGTCCGGTGCTGCTGCTGGGTCCATGCGTAGAAAGCCCTGGAGACCTGGAGGGAGCCCTTTGTTCCCCTGGCTTCAGTTTCCTCATCTGTAGAATGGAACGGTCCATCTGGGTGATTTCCAGGATGACAGTAGTGACAGTAAGGGCAGCCTCTGTGACACTGACCACAGTACAGGCCAGGCCTCTTTTTTTCTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTACAACCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACTGTGCTTGGCTAATGTTTGTATTTTTGGTAGAGATGGGGTTTCACCGTCTTGGCCAGGCTGGTCGCAAACTCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGTCAGGCCAGGCCTCTTTTGAACACTTTGCACACCATGGGTCTTTTCATCCAGGGGGGTAGGTACAGTTGTACAGTTGAGGACACTGAAGCCCAGAGAGGCTCAGGGACTTGCCCAGGGTCACACAGCAGGATGTGGCAGGTGTGGGGCTGGGCCTGGCAGCGTGGCTCCAGCTTTCCAGCATAGAAATCTGTGAAAGCAGATAGTTTGTCGGTCGGTAGGGGAGACTTTCTGAGACCCGCCCCAGCGGCTCAGAGGGTAGTAGCCAGGGGCCTTCCTGGGGGCTCATAACCCAGAACACTGAATGGGAAAACCCTGATGGAGGAGGCGCAGTGGAGCTGTGGGTGCCGATGGGAAGTCCCAGAGGAGCTGGGAGGTCAGTAGCGGTGCTGCCCTCTGTGGAGCACTTAGTGGGCACCAGGTGTGTTTCCAGGTTCATGGCCCTGGGACCTGAAGCTCAGAAGGTGAAGTAACTTGCCCAGGGCACCCGTCGGGCAGCGGCGGGCAGAGGATTTGTGGGCTGTGGAGCCTGTGCTCGTGGCCCAGCCCTGGGGGTTGTGAGTGTGCTGGCCGGGGAGCTTTTCCTGCAAGTGGACTGGTGTCTAGGAGCCAGCATGTCAGGCAGCAGGCAGCGGGAGTGCAGCAGGCAGCGGGAGCACAGCAGGCAGAGGGCGGGGCTCGAGCAGCCATCCGTGGACCCTGGGGCACGGAGGCATGTGGGAGAGGGCTGCTCCATGGCAGTGGCTGAAGGGCTGGGTTGTGCCCCGAGGAGGGTGGATGAGGGTAAGAAGTGGGGTCCCCAGGGGCTTTAGCAAGAGGAGGCCCAGGAACTGGTTGCCAGCTACAGTGAAGGGAACACGGCCCTGAGGTCAGGAGCTTGGTCAAGTCACTGTCTACATGGGCCTCGGTGTCCTCATCTGTGAAAAAGGAAGGGATGGGGAAGCTGACTCCAAGGCCCCTCCTAGCCCTGGTTTCATGAGTCTGAGGATCCCAGGGACATGGGCTTGGCAGTCTGACCTGTGAGGTCGTGGGGTCCAGGGAGGGGCACCGAGCTGGAAGCGGGAGGCAGAGGGGCTGGCCGGCTGGGTCAGACACAGCTGAAGCAGAGGCTGTGACTTGGGGCCTCAGAACCTTCACCCCTGAGCTGCCACCCCAGGATCTGGGTTCCCTCCTTGGGGGGCCCCAGGGAACAAGTCACCTGTCCTTTGCATAGGGGAGCCCTTCAGCTATGTGCAGAAGGTTCTGCTCTGCCCCTTCCTCCCTCTAGGTGCTCAGCTCCTCCAGCCCACTAGTCAGATGTGAGGCTGN | pathogenic | 179,733 |
Does the genetic variant at chromosome 11, position 68413672, impacting gene LRP5 (LDL receptor related protein 5), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AGGGCCGGGCTGGGGCCTTCTGGTCATGGAGGGCGGGGCAGCCGGGCGTTGGCCACCTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCC | AGGGCCGGGCTGGGGCCTTCTGGTCATGGAGGGCGGGGCAGCCGGGCGTTGGCCACCTCCCAGCCTCGCCGCACATACCCTGTGGCCTGCAAGTTCCCCAACCTGGCAGGAGCTGTGGCCACACCCACGACTGCCCAGCAGCCTCACCCTCTGCTGTGGGAGTTGTCCCCGTCCACCCCTGGGTGCCTTTGCTGCAGTTATGTCGGGAGAGGCTCTGGTGACAGCTGTTTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCNN | benign | 179,786 |
Chromosome 11, position 68413900, gene LRP5 (LDL receptor related protein 5): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Exudative_vitreoretinopathy_4', 'Inborn_genetic_diseases', 'Retinal_dystrophy'] | TTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAATGGCAGGGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGTCTCTACTAAAAATACAAAAAATGAGCCAGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTC | TTCCTGTGCACCTGCTGGGCACTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAATGGCAGGGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGTCTCTACTAAAAATACAAAAAATGAGCCAGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCNNNN | pathogenic | 179,795 |
Located at chromosome 11 position 68413921, the variant affecting gene LRP5 (LDL receptor related protein 5)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_dominant_osteopetrosis_1', 'Bone_mineral_density_quantitative_trait_locus_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts', 'Worth_disease'] | CTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAATGGCAGGGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGTCTCTACTAAAAATACAAAAAATGAGCCAGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAAT | CTAGGTCCCAGCTAATCCCTGTGCCAGGACTCTAATTTCACCCTAACACACATGGTGGTTTTCATTGCTGGGGAAGCTGAGGCCTGAGCACATGACTTGCCTTAGGTCACATAGCTGGTGAGTTCAGGATCCCCCAGAGATACCAGGGCCAGCACTCGATCCCCACCCAGCCCTGAACCCCACCATGTGCTGGGATTGTGCTGGGAGTGTCCACACGCCCGGGACCCCAGGGCTGGTGCTCTCATCTCCTTTTTCCAGATCATGAGAATGAGGCTCAGGGAAGTTTGAAAAAAACCTATCCCAAGTCACACAGCAACAGGAGCAGGATTTGAACCCAGAAAAGGGGACCGCACACTCTGTTCTGCTAGAGTAGTTAGCTGTCCTGGGTGATATGGCAGGTGACAGGGGCAACTGTGCTTAACAAAGGAACCCCCATCCCCCCTGCCAAGTTGGGAGACTAGAAGGTCAGGGGCAGAAGCTCTGAAGGGCCAGGTGCAGTGGCTGACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCAGATGATTTGAGCCCAGGAGTTCAAGATCAGCCTGGGTAATGTAGTGAGACGCCATCTCTACAAAAAAATTTTTTAAAAATTAGCTGGGCATGGTGGTTCATGCCTGTAGTCCAAGCTACTTGGGAGGCTCAGGTGGGAGGATTGCTTGAGCCCAGGAGGTTGAGGTTGTGGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGCAATAGAGTGAGACCGTCTCCAAAAAAAAAAAAAGAAGAAGAAAAAGAAGCTCTGAGGCTCCAAGTCCCCAGGCACCCCTTGGCTTGAGGGCAGACAAGGGAGGAGAGGGTCACCTGGGCAGCCCTGACTTTTGTCCCCTGGCAAAGGGACCTTCAGTGACCTTGGCCCTAGGAGAGCCTCTGAGCACGTCAGCCATGTCGAACCGCTCAGGAAGGGCAGCAAGAATTTGGCTTCTGACCTCTGCCTCTCCTACTCGCCATCTGCACTGGGTGTGGTTGTGCCCATTTTACAGATGAGGAGGCTGGGGCATCGACCAGCTGAATGCCTTGTCCCAGGTACTGCGTAGGCAGAGCTGGCAGTTGAACCCCGTGTCCTGGTTGTCGCTGGGGGTGGGCTGCACCCTGACTTGTGAGGCCAGTAGCAAGGTTTGCACGTGACTTCGTGACCGTCACCCAGCTCTGCAGCACATCCCGTGACCCAGCTCATCCAGGCCGCATGCAAACCTGTTGCCAGGCGAGAAACCAGTCACCGCACAGCTGTGGTTGCCTGAAATGATTAAGCTCATTAATCACCCCGGAGTGAGGACAGACTCAGATGAAAACCAGCAAAAGCCCTGGAAACTCATGTGACCCTGCCAATGAGGGCGGCCATGTGCATTGCAGCCTGGCCGTCACTCCTCGGTACGTGTTTTGGACTTAAACGCTCCGGATGTTTACTGAGTGCTTGATTAATAACATGGAAGGCCTGGTCTCATTGCTGTGGGAGTGAAGGATGCACAGCCAGGCCTGACATGATGAGAACAAGAACCTGGAGTCTCGCTGCCTGGGTGGTAATCCTGGCCCTGCCACTTAGCAACTGTGTGACTGTAGCCAGGTCACTTAATTTTGCTAGATCCTGCCTGCGCTTCAGTGGATCTTGCTGGTTTTCCAAGGTGGCCAAACACTTTAAGGCATTCATGTGGTCGCTAGGCTGCAGGGTTGAACCCTGGCTCACCCCGCAGGGCGCCGTGTGCTCTGTGGCCTGGCTGTGCCTTTGCTGACACCGTGCCCGTGTGTGTTCATGCAGGTCAGGAGCGGGTCGTGATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGGACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACCCTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAGGATGGCCTCAATGACTGTATGCACAACAACGGGCAGTTGTGGGCAGCTGTGCCTTGCCATCCCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAACTGCAGCCGTAAGTGCCTCATGGTCCCCCGCACCTCACTCCCTCGTTAGATCAGGCTGGTTCTGGGAGCTGACGCTGAAAGGAGCTTCTCATCTGGGGTTCCTGGGTGTACATAGATGGTTGGGTAGGTTGTGCACTGCACAAGCTGCATGATGCTACCTGGGGGTCCAGGTCCAGGCTGGATGGACTTGTTGCTTCATCAGGACATAGATAAATGGCCAAAACTCCTCAGCTGGAAGGTCCTGGGCAGGATCTTTGGGTGTGAAAACCAGTCACAGGGGAAGGGTGCTTGCTCATACTGCCAGCACAGTGCTGAGTGCTTTCCATAGCGCTCGTTTACTCCTCAAGCCTGGAGGGTGGGGAGTAGCATGGTCCCATTTCACGTACAAGGAACCCGATGCACAGAGAGGTGTGGCAACCCATCCAAGGCCATACAACTGGGGTGGGTTGAGCCGGGGTTGACTGTGGCAGGCTGGCTCAAGAGTCCCTGCTCCTGAACCCTTGCCAGGCAGCCTGGCATCAGCTCGGGGAATTTTTGCCCTGACCCTTGGAAGCAGGTGGGCCTCTTTGTTCTCATGTCAGTGATGAGAAGAGTGACTTTCCTATGGCCCCTCTGGAGTACAGGTGTTTCCTGTTGGCGGGCTCTTCCCCCATGACATCAGCAGCGAGCTGGTTATGATTCCCTACGCAGAACTTGATAGTTTATAAAGCTCTTTGTCATCCAGGCCCCGTTGGAGTCTCACGCAGACCTGGTCGCAGGCGGGGCTGGTCTTGCCTGTCCCAGCTGCATGGATGGGGAACTTGAGGCTTGCAAAGGTTAAGGGGCTGTTCGAGGCCCAGGCTGGCAGGAGATGGGCCTGGGCCAGAGTCTGGGACTTCCCATGCCTGGGCTGTCTTTGGTCCTGTTGCTCACCATCCCTCCCTGGGGCCATGACCTTAGAGAGCCAAATGGAGGTGCAGGTAACCCACGGCAAGGAGGGGTTGCCATGACTCAGAGTCCCCGTCCTGTGGCCGGCAGTACCTGGTGCAACGACTTGGATTTCAGACCAGCCACTGTAGCCCGCTGACGGTGCGCTCGAAGTGCCACAGCTTCTGAAGCCAGGCAGGACTCAGGCCAGGAGACTCTGTTAGCTGTTGAGAGGGAGAGGCCAACGGATGTTCTGGTTCTGCTAGAGAGCTGGTTCTTCGGATCCTGGTACCAGTGCACTGAGAGGAGGCCCAGCTTGATTCTGGGGCTGCCTTGTGGTGGCATGTGCTGCTCACTGACACCCTCGAGGAGTGTCTTCTCTCGGGCTTGTTGACTGTGCCCGGTTTTCCGCAGTTCACTGGTGCACACATAGGCACATAGCAAACCGCACACACAGTCGTGGGTATGAGTTTCACTACATTCCACCACCAGTGTTCACTACCATTACCTGCCTTCCGTCTTAAGTGTTCATCATTTAAAAATAAATTTATTGGGCTGGACACGGTGGCTCATGACTGTTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACTCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGGGCATGCCTATAATCCCAGCTACTTGGGAGGCTGAGAGAGGAGAATCGCTTGAACTTGGGAGGTGGAAGTTTCAAGTGAGCTCATTTTGTGCCACTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCGAATGAATGAATGAATGAATGAATGAATGGCAGGGCGTAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATGACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCGTCTCTACTAAAAATACAAAAAATGAGCCAGGCGTGGTGACGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAA | pathogenic | 179,796 |
Does the variant impacting LRP5 (LDL receptor related protein 5) on chromosome 11, position 68423710, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TGTCTTTGCAGCTGCCCAGCAAGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGGAGGCACCCTTTCCATCTGGGGGTGTGTGTGTGTGGGGTGTGTGTGTGTGTGTGCGCGTGTGTGTGGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGCACCCTTTCCATCTGGGTCCAAGAGACTGGGCCTGGGGAAGACGCTTCTTTTTATCTACTTAGAGACTTTGTTTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGGGTATGGTGATATGAGCATAGCTCACTGCAGCCTCGGCCTCCCAGGCTGAAGCGATCCTCCCACCTCAGCCTTCTGAATAGCTGGGACTGTAGGCGTGCGTCACCATACTGAGCTATTGTTTTTTTTGTTTGGTTGGTTTAATTTTTTTTGATACAGATGGAGTCTTGCTATGTTGCCCAGACTAGTCTCAAACTCCTGAACTCAAGTGATTCTCCCACCTCAGTTTCCCGACATTCTGGGATCACAGGTGTGAGCCACTGCTGTCTCCCTGTTTTATTAACTGCTGAAAGACCTAGATAAAGAAAGTCTGAAAAGACTTACTATCAGAGCACCATCCTAAGATGATTCCCTCTGACTCAATGGAGAGGGAGGGGAGCTTTTCCTTCAGGCCTGGGTGGCAGGAGCCCAGGTGCTCCAGGCCCCATTTGCCCCAGGCCAAATCACTCGGGAACTTGGATGCAGCTGTCTTTCAGGGTAACCCAAAGGAACCAGATCCCCGCAGGCAGTAGGCTTCTGGGCTGTCCTCTCCTCCTACGTCAGCTCAGTAAGAGCCCTTCGAAGGGATGCTGTGTCGGAGGCCCCAAAAGCCCAGGCTCATCCCTGAGATGCACAGGGTGGGCTGGGCTTAGGCAGCGCTCGAGCATCTCCTGGACGGTGACCCCAGAGAGTGTGGAGACGGAGAGTCCTTGAGAGTCACTGAGAGACGTGGCTGCCCTGCCTTCCCAAGAGGGGCTCTGAGTCATTCCCCACACTCACCTGCCCCTACCCACCCTCACCTGGCCCCCAGCCTCACCTACCCCCACATCTGTACCGATCCCTTTACCCGCACCTTCCCTACCCACCCTCACCTCCCCTGTACCTTCACCTCCCCCACTCACCCGCCCCTGCACCCTCACCTGTCCCCCACCTTCACCTAACCCCCACCCTCACCTGCCCTCCCCTCACCTGGCCTCCTTCCGTTGGGGAAGGGGTTGTAAGGGGCGGCCCCCAAACTGTCTGTCCTGGTGCCCTGCAGAGAAAACAGTACGTGAGGGCCGCAGTCCAAAAGCTTGAGTCCTGGAAGGTGGAGGAGACAGGGATGTGTTGGGAAGGGCCCCATGGTCTTGGATCCCTTCTCGACTGTCAATGGGGCCTTCATGGGAGCGCCAGTCTAGTGATGCACAGCTGGGTGCCCGGCGGGTGGCTGAGGAGGCCTAAAGTCCGAGGCGGCAAGAGCTCTTCCAGAGGCTGTTGTCCTAATCGCTCTGGCATACTCAGGCGGGCACGTAGTTAGGAGCTGATTGGAGAGGAGAGACCCCCACACCAATACTGGGATTTGACTTTCAGGCTAAACTTGAGAAGTGTGGCCTCTGCTGTCCTGCCAGAGCTCTCCAGCCAGTGCCCAGGGCTCTCCAGCCAGTGCCCGGGGGTCTCCACCAGTGCCCGGGGGTCTCCGCCAGTGCCAGGGGTCTCCGCCAGTGCCCAGGGGTCTCCGCCAGTGCTCAGGAGTCTTGGTTTCTTTGTCTTACAGCCCTTTGTTTTGACCTCTCTGAGCCAAGGCCAAAACCCAGACAGGCAGCCCCACGACCTCAGCATCGACATCTACAGCCGGACACTGTTCTGGACGTGCGAGGCCACCAATACCATCAACGTCCACAGGCTGAGCGGGGAAGCCATGGGGGTGGTGCTGCGTGGGGACCGCGACAAGCCCAGGGCCATCGTCGTCAACGCGGAGCGAGGGTAGGAGGCCAACGGGTGGGTGGGGGTGCTGCCCGTCCAGGCGTGCCCGCCGTGTCTTCTGCCGAATGCCAGCCTCTCACAGGCTGGGGAGACTTTCCACCCTGGGGATCCAATGGGTGGCTTTCCAGGGTCCCAAAAGCAAACACAGGCTCTTTCACAGCCCCTCCAGGAAAGCAGAAAGCCCCAAGGGCTGGAAGGGAAGGGGGAGCTCTGCTGAGAGGTTACAAGGCAGCGCTGGCCGACGGGAGTTGCAGTTGATAGGTTTTGTATCATCCTTGTTAAACTTGAACCCTGTGCAGAAATCCCTTCCACGGCATGGGGGCTGCCTGTTGACTCGCTCCTGTTCCACCACAGGGAGCTCCTGGGCTTCTTCCTCCCAGAGGCCCCCGACGCTCCCACCTGTTGGTCGTCAGAGCTTCTGGTTGGTGGGAAGGCACCCAGGACCTTGAGGTCTCCAGAGAGAAAAGCCAGGGAAAGAGGGAGACCGAAACCCATGTGACATGAAACTCAGGCTCCAAACTGAGCACGGGAACGTTTGGGGACAGGAGCGCGATGGCCTTCCTCAGATAGCTGGGGGGCTGGCATGAAGACGGGAGCTACAGCCAGCACAGGTCCTGGGCCGGGAGCCCAGAGATTGAGCCCTGACTCTGTCACTTACTGGCCACGTGACCTTGGGCGGGTGGCATAGCCTCTTGGAGACTCAGTTTCCTCATTGGTAGGAGTGACGGCCACAGTGGTGCGGCCTCTGCAGCACACGGGGGGCTCGGTGGGCGGAAGCCCCGGGTCTATAAGGCGGCTGTGCAGGAGCCAGCCGAGCTGGTCTCCCAACAGCCAGGGCTCCGGGGTCCTTAGCAGCTGTGGGGGGCCTGCACCTGTTTCCCATGGCTGCTGTCAGAAATTACCAGAAGCCAGGTGGCTGAGAGTAATGGACACTTGTTCTCTCACAGTTCCTGAGGGCTGAAGCCCGAGATCGAGGTGTGGGCAGGGCCCTGCGCCCTCTGAAGGCTCTGAGGGAACCTTTGGGCTTCTGGTGGCTCCAGGCACCCCTTGACTTGTGGTCCTGTCACTCCAGTCTCTCTGTCTGGCTGCACATGGCGTGGCCTCTTCTGTACCATTGAAGGACACTTCAGTTGGATTTAGGGCCTACCCTCACCCATTGTGGTCGTATCTTGATCCTTCATGACATTTGTAAAGACCCTGCTTCCAAATAAGCTCACATTCTGAGGTTCTGGGGTGAGCGGGAATTTGGAGAGCATTGTTCAACTAGTATAGAATGTGACCTGTCAGCCTCGGGCAGCCCTGAGAGGCAGGGGCTTTCCACAGCCCAGCTGGGTGCCCTGGGCTCCGTGCTGTCCGAGGAGACGCCATCCCCACACCCGTCCTTCACCCGCCACCCTCCCGCAGGTACCTGTACTTCACCAACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGTGGACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTGTGACCTGTCAGGTACGCGCCCCGGGGCCTGCCCTAACCGCAGACACCCGGCCTTCATTGTCAGTAATGGCAGCAGCTGCCACATTGTCCGAGACCTGCCGTGAGCCCAGTGCCGCGCCAGGGGCTTTGTGTGTAGCGTGTTTTGTCCTCACACTGACAGCTGTAGGCTGGGGTTCTGAGTGAGCCCCACAGGGCAGAGGCAGAAAATGAGTCTCAGAGAGGGTGAGCGAGCTGCTTGGGGCCCCACAGCAGGAGATGGAGCAGGACTGCAGCCTAGCCTCTGCCCCCAGCACCTGCGCAAGAAGCTGCTCTGCTCTGGACTGTGTTAGGCTGCGAGGGCTGGAGAGAAATGAGAGTTGGTGCTTAGAGAGGGGGCGCAGGTCCCCATGGCTTTTCCTCTTATGATGAGGTAGATGGGTGAAGGGAGGGGCCATGCTTGCAGGGGCCAGTGACCGAGGCCCGCCGTTGGAACTGATG | TGTCTTTGCAGCTGCCCAGCAAGGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGGAGGCACCCTTTCCATCTGGGGGTGTGTGTGTGTGGGGTGTGTGTGTGTGTGTGCGCGTGTGTGTGGTGTGTGGTGTGTGTGTGTGTATGGGGGAGGCACCCTTTCCATCTGGGTCCAAGAGACTGGGCCTGGGGAAGACGCTTCTTTTTATCTACTTAGAGACTTTGTTTTATTTGTATTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCTGGGGTATGGTGATATGAGCATAGCTCACTGCAGCCTCGGCCTCCCAGGCTGAAGCGATCCTCCCACCTCAGCCTTCTGAATAGCTGGGACTGTAGGCGTGCGTCACCATACTGAGCTATTGTTTTTTTTGTTTGGTTGGTTTAATTTTTTTTGATACAGATGGAGTCTTGCTATGTTGCCCAGACTAGTCTCAAACTCCTGAACTCAAGTGATTCTCCCACCTCAGTTTCCCGACATTCTGGGATCACAGGTGTGAGCCACTGCTGTCTCCCTGTTTTATTAACTGCTGAAAGACCTAGATAAAGAAAGTCTGAAAAGACTTACTATCAGAGCACCATCCTAAGATGATTCCCTCTGACTCAATGGAGAGGGAGGGGAGCTTTTCCTTCAGGCCTGGGTGGCAGGAGCCCAGGTGCTCCAGGCCCCATTTGCCCCAGGCCAAATCACTCGGGAACTTGGATGCAGCTGTCTTTCAGGGTAACCCAAAGGAACCAGATCCCCGCAGGCAGTAGGCTTCTGGGCTGTCCTCTCCTCCTACGTCAGCTCAGTAAGAGCCCTTCGAAGGGATGCTGTGTCGGAGGCCCCAAAAGCCCAGGCTCATCCCTGAGATGCACAGGGTGGGCTGGGCTTAGGCAGCGCTCGAGCATCTCCTGGACGGTGACCCCAGAGAGTGTGGAGACGGAGAGTCCTTGAGAGTCACTGAGAGACGTGGCTGCCCTGCCTTCCCAAGAGGGGCTCTGAGTCATTCCCCACACTCACCTGCCCCTACCCACCCTCACCTGGCCCCCAGCCTCACCTACCCCCACATCTGTACCGATCCCTTTACCCGCACCTTCCCTACCCACCCTCACCTCCCCTGTACCTTCACCTCCCCCACTCACCCGCCCCTGCACCCTCACCTGTCCCCCACCTTCACCTAACCCCCACCCTCACCTGCCCTCCCCTCACCTGGCCTCCTTCCGTTGGGGAAGGGGTTGTAAGGGGCGGCCCCCAAACTGTCTGTCCTGGTGCCCTGCAGAGAAAACAGTACGTGAGGGCCGCAGTCCAAAAGCTTGAGTCCTGGAAGGTGGAGGAGACAGGGATGTGTTGGGAAGGGCCCCATGGTCTTGGATCCCTTCTCGACTGTCAATGGGGCCTTCATGGGAGCGCCAGTCTAGTGATGCACAGCTGGGTGCCCGGCGGGTGGCTGAGGAGGCCTAAAGTCCGAGGCGGCAAGAGCTCTTCCAGAGGCTGTTGTCCTAATCGCTCTGGCATACTCAGGCGGGCACGTAGTTAGGAGCTGATTGGAGAGGAGAGACCCCCACACCAATACTGGGATTTGACTTTCAGGCTAAACTTGAGAAGTGTGGCCTCTGCTGTCCTGCCAGAGCTCTCCAGCCAGTGCCCAGGGCTCTCCAGCCAGTGCCCGGGGGTCTCCACCAGTGCCCGGGGGTCTCCGCCAGTGCCAGGGGTCTCCGCCAGTGCCCAGGGGTCTCCGCCAGTGCTCAGGAGTCTTGGTTTCTTTGTCTTACAGCCCTTTGTTTTGACCTCTCTGAGCCAAGGCCAAAACCCAGACAGGCAGCCCCACGACCTCAGCATCGACATCTACAGCCGGACACTGTTCTGGACGTGCGAGGCCACCAATACCATCAACGTCCACAGGCTGAGCGGGGAAGCCATGGGGGTGGTGCTGCGTGGGGACCGCGACAAGCCCAGGGCCATCGTCGTCAACGCGGAGCGAGGGTAGGAGGCCAACGGGTGGGGGTGCTGCCCGTCCAGGCGTGCCCGCCGTGTCTTCTGCCGAATGCCAGCCTCTCACAGGCTGGGGAGACTTTCCACCCTGGGGATCCAATGGGTGGCTTTCCAGGGTCCCAAAAGCAAACACAGGCTCTTTCACAGCCCCTCCAGGAAAGCAGAAAGCCCCAAGGGCTGGAAGGGAAGGGGGAGCTCTGCTGAGAGGTTACAAGGCAGCGCTGGCCGACGGGAGTTGCAGTTGATAGGTTTTGTATCATCCTTGTTAAACTTGAACCCTGTGCAGAAATCCCTTCCACGGCATGGGGGCTGCCTGTTGACTCGCTCCTGTTCCACCACAGGGAGCTCCTGGGCTTCTTCCTCCCAGAGGCCCCCGACGCTCCCACCTGTTGGTCGTCAGAGCTTCTGGTTGGTGGGAAGGCACCCAGGACCTTGAGGTCTCCAGAGAGAAAAGCCAGGGAAAGAGGGAGACCGAAACCCATGTGACATGAAACTCAGGCTCCAAACTGAGCACGGGAACGTTTGGGGACAGGAGCGCGATGGCCTTCCTCAGATAGCTGGGGGGCTGGCATGAAGACGGGAGCTACAGCCAGCACAGGTCCTGGGCCGGGAGCCCAGAGATTGAGCCCTGACTCTGTCACTTACTGGCCACGTGACCTTGGGCGGGTGGCATAGCCTCTTGGAGACTCAGTTTCCTCATTGGTAGGAGTGACGGCCACAGTGGTGCGGCCTCTGCAGCACACGGGGGGCTCGGTGGGCGGAAGCCCCGGGTCTATAAGGCGGCTGTGCAGGAGCCAGCCGAGCTGGTCTCCCAACAGCCAGGGCTCCGGGGTCCTTAGCAGCTGTGGGGGGCCTGCACCTGTTTCCCATGGCTGCTGTCAGAAATTACCAGAAGCCAGGTGGCTGAGAGTAATGGACACTTGTTCTCTCACAGTTCCTGAGGGCTGAAGCCCGAGATCGAGGTGTGGGCAGGGCCCTGCGCCCTCTGAAGGCTCTGAGGGAACCTTTGGGCTTCTGGTGGCTCCAGGCACCCCTTGACTTGTGGTCCTGTCACTCCAGTCTCTCTGTCTGGCTGCACATGGCGTGGCCTCTTCTGTACCATTGAAGGACACTTCAGTTGGATTTAGGGCCTACCCTCACCCATTGTGGTCGTATCTTGATCCTTCATGACATTTGTAAAGACCCTGCTTCCAAATAAGCTCACATTCTGAGGTTCTGGGGTGAGCGGGAATTTGGAGAGCATTGTTCAACTAGTATAGAATGTGACCTGTCAGCCTCGGGCAGCCCTGAGAGGCAGGGGCTTTCCACAGCCCAGCTGGGTGCCCTGGGCTCCGTGCTGTCCGAGGAGACGCCATCCCCACACCCGTCCTTCACCCGCCACCCTCCCGCAGGTACCTGTACTTCACCAACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGCACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGTGGACAACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTGTGACCTGTCAGGTACGCGCCCCGGGGCCTGCCCTAACCGCAGACACCCGGCCTTCATTGTCAGTAATGGCAGCAGCTGCCACATTGTCCGAGACCTGCCGTGAGCCCAGTGCCGCGCCAGGGGCTTTGTGTGTAGCGTGTTTTGTCCTCACACTGACAGCTGTAGGCTGGGGTTCTGAGTGAGCCCCACAGGGCAGAGGCAGAAAATGAGTCTCAGAGAGGGTGAGCGAGCTGCTTGGGGCCCCACAGCAGGAGATGGAGCAGGACTGCAGCCTAGCCTCTGCCCCCAGCACCTGCGCAAGAAGCTGCTCTGCTCTGGACTGTGTTAGGCTGCGAGGGCTGGAGAGAAATGAGAGTTGGTGCTTAGAGAGGGGGCGCAGGTCCCCATGGCTTTTCCTCTTATGATGAGGTAGATGGGTGAAGGGAGGGGCCATGCTTGCAGGGGCCAGTGACCGAGGCCCGCCGTTGGAACTGATGNNNN | benign | 179,813 |
Variant on chromosome 11, at position 68438516, affecting LRP5 (LDL receptor related protein 5): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | CAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAATCACTCTGTACCATACAGCAGCTTTGTCTTGAGTGCAGCTGGGATTTGTGGCTGAGCAGTTACAATTCCTACGTGGCCCAGGCACCAGGAACGCAGGCTGTGTTTGTAGATGGCTGGGCAGCCGCACCGCAGAGCTGCACCATGCTGGTTTGTATCACATGGGTGACCATGGTATGTCTAAGAAGGTGGAGTCCCTGTGAGGTCTGCAGGTGCCCCCACAGCTCCAGGCCACCTTGAGGATTGCCTCTGCCTGCCCAGCCCTGAGTTCCCTCTCCCCTGTCCTGTCCCACTGTCACCCCAAGCCGGCCTCATTGGGAGCCTGTTGGATGGCAGGGTATAGATGTAACCTGATTCTCTCTGGGGAGCGGGGTTATCTGGCTTCTCAAGAGCTCCTAGGAGCCCACAGTGGTGGCACCATCACAGTCGCAGCAGCCCCCAGAGAACGCGGCCCTGTCTGTTCCTGGCGTGCTCTGTGCTGCCCCGCCTGGGTTCCCTGCCCCAGTCGCAGGCCCCTTGGAGGAGGTACCATGTGTCTCCCGTTTCACAGATGAGCCCCGGGGAGCTCACTCTAGTAGTGGCCAGAGAGGCCTGCGGCTCAGGGAGCGGGGCACATTTCCAACAGGACACACCGCCCTGGTCTGAGTCTCGTGGGTAGTGGGAGCAGAGGAGAGCGCCCTATGTCTGTGGGGCGGCTTGGCTGAGCCTGGAAGCCACCTGACCTCCCCCGTCCCTTCCCTGCCAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGGTGAGGGGCGGGGCCGGGGAGGGGCGGGGCGGGATGGGGCTGTGGGCCCCTCCCACCGTCAGTGCTGGCCACCGGAGGCTTCCCGGGTTCCTGGGGGCTGTGCCACCGCCTCTGAGGCATGCTTGCTTTCTTCCCTTTTCAAACCCTTCTGCTTCCTTCTTTAATGACATTGTTGATTGTGGATAATCTGAAAACTACACAAAAATATAAAGAGCCAAAATCTCACCCAAATCCACCTCCTAGAGTGGCTGTTGGGCTCCGTCAGCATCCAGGCGGCCGTCTGTGTTCCGCACGGCCCAGCCCATCGATAGCCGCCTGCACCAGGCCTGTCTGCCCTCTGTGAGCCTCCCCACAGGGTTCCCTCCACAAACACCCTGTTCTCCCACCCAGGGCTGGCTGCTTCCTGGAAAACAGCTGGATGGTTTTGTGCATGACAGACAAACACAGGGTGATTTTCGTGGCTAAAATACTCCCTGGAGCTTTTGGCAGGGTGAGGGGCTGGCTCCAGCTGAGCCACGCCTTGAGTGAAATGACTGTGAGGAGAATAAACTGCCGCTGCCCTCCAGGATCACTGGGGCTGGCTGGGGAGAACCCCCGTTTCTGGGAGCACAGTCCCAGGATGCCAAGGCGAGCTTGGTGCCGAGATG | CAAGCTCTGCTGAGCACCACTGCCTTCCACAGCCCCCACTCTCGGGAGGCGAGGCTCCTCGTGGCCATTCCTGTCCTTGGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAATCACTCTGTACCATACAGCAGCTTTGTCTTGAGTGCAGCTGGGATTTGTGGCTGAGCAGTTACAATTCCTACGTGGCCCAGGCACCAGGAACGCAGGCTGTGTTTGTAGATGGCTGGGCAGCCGCACCGCAGAGCTGCACCATGCTGGTTTGTATCACATGGGTGACCATGGTATGTCTAAGAAGGTGGAGTCCCTGTGAGGTCTGCAGGTGCCCCCACAGCTCCAGGCCACCTTGAGGATTGCCTCTGCCTGCCCAGCCCTGAGTTCCCTCTCCCCTGTCCTGTCCCACTGTCACCCCAAGCCGGCCTCATTGGGAGCCTGTTGGATGGCAGGGTATAGATGTAACCTGATTCTCTCTGGGGAGCGGGGTTATCTGGCTTCTCAAGAGCTCCTAGGAGCCCACAGTGGTGGCACCATCACAGTCGCAGCAGCCCCCAGAGAACGCGGCCCTGTCTGTTCCTGGCGTGCTCTGTGCTGCCCCGCCTGGGTTCCCTGCCCCAGTCGCAGGCCCCTTGGAGGAGGTACCATGTGTCTCCCGTTTCACAGATGAGCCCCGGGGAGCTCACTCTAGTAGTGGCCAGAGAGGCCTGCGGCTCAGGGAGCGGGGCACATTTCCAACAGGACACACCGCCCTGGTCTGAGTCTCGTGGGTAGTGGGAGCAGAGGAGAGCGCCCTATGTCTGTGGGGCGGCTTGGCTGAGCCTGGAAGCCACCTGACCTCCCCCGTCCCTTCCCTGCCAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGGTGAGGGGCGGGGCCGGGGAGGGGCGGGGCGGGATGGGGCTGTGGGCCCCTCCCACCGTCAGTGCTGGCCACCGGAGGCTTCCCGGGTTCCTGGGGGCTGTGCCACCGCCTCTGAGGCATGCTTGCTTTCTTCCCTTTTCAAACCCTTCTGCTTCCTTCTTTAATGACATTGTTGATTGTGGATAATCTGAAAACTACACAAAAATATAAAGAGCCAAAATCTCACCCAAATCCACCTCCTAGAGTGGCTGTTGGGCTCCGTCAGCATCCAGGCGGCCGTCTGTGTTCCGCACGGCCCAGCCCATCGATAGCCGCCTGCACCAGGCCTGTCTGCCCTCTGTGAGCCTCCCCACAGGGTTCCCTCCACAAACACCCTGTTCTCCCACCCAGGGCTGGCTGCTTCCTGGAAAACAGCTGGATGGTTTTGTGCATGACAGACAAACACAGGGTGATTTTCGTGGCTAAAATACTCCCTGGAGCTTTTGGCAGGGTGAGGGGCTGGCTCCAGCTGAGCCACGCCTTGAGTGAAATGACTGTGAGGAGAATAAACTGCCGCTGCCCTCCAGGATCACTGGGGCTGGCTGGGGAGAACCCCCGTTTCTGGGAGCACAGTCCCAGGATGCCAAGGCGAGCTTGGTGCCGAGATGNNNN | pathogenic | 179,873 |
Variant in LRP5 (LDL receptor related protein 5), chromosome 11, position 68438594—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_dominant_osteopetrosis_1', 'Bone_mineral_density_quantitative_trait_locus_1', 'Exudative_vitreoretinopathy_4', 'Osteoporosis_with_pseudoglioma', 'Polycystic_liver_disease_4_with_or_without_kidney_cysts', 'Worth_disease'] | GGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAATCACTCTGTACCATACAGCAGCTTTGTCTTGAGTGCAGCTGGGATTTGTGGCTGAGCAGTTACAATTCCTACGTGGCCCAGGCACCAGGAACGCAGGCTGTGTTTGTAGATGGCTGGGCAGCCGCACCGCAGAGCTGCACCATGCTGGTTTGTATCACATGGGTGACCATGGTATGTCTAAGAAGGTGGAGTCCCTGTGAGGTCTGCAGGTGCCCCCACAGCTCCAGGCCACCTTGAGGATTGCCTCTGCCTGCCCAGCCCTGAGTTCCCTCTCCCCTGTCCTGTCCCACTGTCACCCCAAGCCGGCCTCATTGGGAGCCTGTTGGATGGCAGGGTATAGATGTAACCTGATTCTCTCTGGGGAGCGGGGTTATCTGGCTTCTCAAGAGCTCCTAGGAGCCCACAGTGGTGGCACCATCACAGTCGCAGCAGCCCCCAGAGAACGCGGCCCTGTCTGTTCCTGGCGTGCTCTGTGCTGCCCCGCCTGGGTTCCCTGCCCCAGTCGCAGGCCCCTTGGAGGAGGTACCATGTGTCTCCCGTTTCACAGATGAGCCCCGGGGAGCTCACTCTAGTAGTGGCCAGAGAGGCCTGCGGCTCAGGGAGCGGGGCACATTTCCAACAGGACACACCGCCCTGGTCTGAGTCTCGTGGGTAGTGGGAGCAGAGGAGAGCGCCCTATGTCTGTGGGGCGGCTTGGCTGAGCCTGGAAGCCACCTGACCTCCCCCGTCCCTTCCCTGCCAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGGTGAGGGGCGGGGCCGGGGAGGGGCGGGGCGGGATGGGGCTGTGGGCCCCTCCCACCGTCAGTGCTGGCCACCGGAGGCTTCCCGGGTTCCTGGGGGCTGTGCCACCGCCTCTGAGGCATGCTTGCTTTCTTCCCTTTTCAAACCCTTCTGCTTCCTTCTTTAATGACATTGTTGATTGTGGATAATCTGAAAACTACACAAAAATATAAAGAGCCAAAATCTCACCCAAATCCACCTCCTAGAGTGGCTGTTGGGCTCCGTCAGCATCCAGGCGGCCGTCTGTGTTCCGCACGGCCCAGCCCATCGATAGCCGCCTGCACCAGGCCTGTCTGCCCTCTGTGAGCCTCCCCACAGGGTTCCCTCCACAAACACCCTGTTCTCCCACCCAGGGCTGGCTGCTTCCTGGAAAACAGCTGGATGGTTTTGTGCATGACAGACAAACACAGGGTGATTTTCGTGGCTAAAATACTCCCTGGAGCTTTTGGCAGGGTGAGGGGCTGGCTCCAGCTGAGCCACGCCTTGAGTGAAATGACTGTGAGGAGAATAAACTGCCGCTGCCCTCCAGGATCACTGGGGCTGGCTGGGGAGAACCCCCGTTTCTGGGAGCACAGTCCCAGGATGCCAAGGCGAGCTTGGTGCCGAGATGTGAACTCCTGAGTGTAAACAGCGGGGGCTGACTTGACATGCTTTGTATGCTTTTCATTTGTTCCTGCAGCTGTATGCC | GGCACCCACCCCCCCACCAACCTGGTAGAGCCTTGGGCGGGGTCTGTTACTCCTTGCATGGCGTAGACCTCCCCACAGTAGGCACCTGACACATACCTCCTGGGGGGCAGGCAGGAGGTGCGTTGAGGTCTCAGCCCTGGCAGTCCCTCCCCTGCGTGGCATAGGCCTCGCCACAGGGTCATCGAGGGTGGGTGGAGACTGTACTAGACCACTCCCCGCTGGTCCTAGAAAGGGTCCCATCTGTCTGCTCTCTGTTTGGAGTCCAGACCTTGGTTGCTGTGCCCTGCATGGTGGGCTGGGGGGCACCCTCCAGCCTCTCTGAGTGCATGGCCTCTCCTTGCAGCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGAGCCAGCTTCTGGCACGGGGAAGGGGCGTCCGGGCTGGGTTCCCCCAGGAACGTGGAGTTTAGGGGAGGAGACGTGCCTTTCCAGCGGGGCTGGGGGCTGTGTGGGAGACTCAGGCGGCTGGGAGGCTCCTTGCGGGAGGCAGGGAAGCCTTTCCCAGGGCAGCGGCCAGGAGGACAGACTGTGAGCTGTGGGCTCGGCGGCTACAGAGTCTGCCTCAGTGGGCGGGGCTGATGGTGTCCAGGTGCCTGCAGCACGCACCCACCCACGGGACCTTGCTGAGCAGCGTCTGTCAGGCAGCAAGATTACCCGAGGGCTGCAGTGGTCCTGTTCCCTGGCAGCTTACTGTCTGGCTGAGGAGGAGTGATGTTCACATATGCACACATGTCATGTGCACACACATGTACATGACAACATCCCACATGCTCCTCAAATAGCATGACCTGTACAGTCACGGATATAGGGCCTAGGGGATAGGAGGCCAAGACAGTCAGGGAAGACTTTCCAGAGGCAGTGGCTCCTGAAAGGCTGTCTGATTCAGGCAGGAAGGGAGCTGAGTTCAGATAGGAAGTAGCAATGAGTCATTGTGTCTGGGGACATGGCCACTCCTTCGCTGCAGAGGGACCTGGGCTGAGAGCTCCTCTCTTATGGCTGCAGTCGGGAGAGAAGTCTGTTGGGGGGAGAAGGGGGCTTCCTCAAGGGACTCCCTGTGCCCTTTGGCACCTTCGTGCCAGGTCAGGCTTGAGGCCTGAAGGCAGTGGTGGGGGCCACCAAGGGTCGCCTCCTCTGCTGGGCAAGTTCCCAGTCTGACGGGCCTGTGCCGTGGGCCCCAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAATCACTCTGTACCATACAGCAGCTTTGTCTTGAGTGCAGCTGGGATTTGTGGCTGAGCAGTTACAATTCCTACGTGGCCCAGGCACCAGGAACGCAGGCTGTGTTTGTAGATGGCTGGGCAGCCGCACCGCAGAGCTGCACCATGCTGGTTTGTATCACATGGGTGACCATGGTATGTCTAAGAAGGTGGAGTCCCTGTGAGGTCTGCAGGTGCCCCCACAGCTCCAGGCCACCTTGAGGATTGCCTCTGCCTGCCCAGCCCTGAGTTCCCTCTCCCCTGTCCTGTCCCACTGTCACCCCAAGCCGGCCTCATTGGGAGCCTGTTGGATGGCAGGGTATAGATGTAACCTGATTCTCTCTGGGGAGCGGGGTTATCTGGCTTCTCAAGAGCTCCTAGGAGCCCACAGTGGTGGCACCATCACAGTCGCAGCAGCCCCCAGAGAACGCGGCCCTGTCTGTTCCTGGCGTGCTCTGTGCTGCCCCGCCTGGGTTCCCTGCCCCAGTCGCAGGCCCCTTGGAGGAGGTACCATGTGTCTCCCGTTTCACAGATGAGCCCCGGGGAGCTCACTCTAGTAGTGGCCAGAGAGGCCTGCGGCTCAGGGAGCGGGGCACATTTCCAACAGGACACACCGCCCTGGTCTGAGTCTCGTGGGTAGTGGGAGCAGAGGAGAGCGCCCTATGTCTGTGGGGCGGCTTGGCTGAGCCTGGAAGCCACCTGACCTCCCCCGTCCCTTCCCTGCCAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGGTGAGGGGCGGGGCCGGGGAGGGGCGGGGCGGGATGGGGCTGTGGGCCCCTCCCACCGTCAGTGCTGGCCACCGGAGGCTTCCCGGGTTCCTGGGGGCTGTGCCACCGCCTCTGAGGCATGCTTGCTTTCTTCCCTTTTCAAACCCTTCTGCTTCCTTCTTTAATGACATTGTTGATTGTGGATAATCTGAAAACTACACAAAAATATAAAGAGCCAAAATCTCACCCAAATCCACCTCCTAGAGTGGCTGTTGGGCTCCGTCAGCATCCAGGCGGCCGTCTGTGTTCCGCACGGCCCAGCCCATCGATAGCCGCCTGCACCAGGCCTGTCTGCCCTCTGTGAGCCTCCCCACAGGGTTCCCTCCACAAACACCCTGTTCTCCCACCCAGGGCTGGCTGCTTCCTGGAAAACAGCTGGATGGTTTTGTGCATGACAGACAAACACAGGGTGATTTTCGTGGCTAAAATACTCCCTGGAGCTTTTGGCAGGGTGAGGGGCTGGCTCCAGCTGAGCCACGCCTTGAGTGAAATGACTGTGAGGAGAATAAACTGCCGCTGCCCTCCAGGATCACTGGGGCTGGCTGGGGAGAACCCCCGTTTCTGGGAGCACAGTCCCAGGATGCCAAGGCGAGCTTGGTGCCGAGATGTGAACTCCTGAGTGTAAACAGCGGGGGCTGACTTGACATGCTTTGTATGCTTTTCATTTGTTCCTGCAGCTGTATGCCN | pathogenic | 179,876 |
Is chromosome 11, position 68439879, gene LRP5 (LDL receptor related protein 5) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinal_dystrophy'] | CAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAATCACTCTGTACCATACAGCAGCTTTGTCTTGAGTGCAGCTGGGATTTGTGGCTGAGCAGTTACAATTCCTACGTGGCCCAGGCACCAGGAACGCAGGCTGTGTTTGTAGATGGCTGGGCAGCCGCACCGCAGAGCTGCACCATGCTGGTTTGTATCACATGGGTGACCATGGTATGTCTAAGAAGGTGGAGTCCCTGTGAGGTCTGCAGGTGCCCCCACAGCTCCAGGCCACCTTGAGGATTGCCTCTGCCTGCCCAGCCCTGAGTTCCCTCTCCCCTGTCCTGTCCCACTGTCACCCCAAGCCGGCCTCATTGGGAGCCTGTTGGATGGCAGGGTATAGATGTAACCTGATTCTCTCTGGGGAGCGGGGTTATCTGGCTTCTCAAGAGCTCCTAGGAGCCCACAGTGGTGGCACCATCACAGTCGCAGCAGCCCCCAGAGAACGCGGCCCTGTCTGTTCCTGGCGTGCTCTGTGCTGCCCCGCCTGGGTTCCCTGCCCCAGTCGCAGGCCCCTTGGAGGAGGTACCATGTGTCTCCCGTTTCACAGATGAGCCCCGGGGAGCTCACTCTAGTAGTGGCCAGAGAGGCCTGCGGCTCAGGGAGCGGGGCACATTTCCAACAGGACACACCGCCCTGGTCTGAGTCTCGTGGGTAGTGGGAGCAGAGGAGAGCGCCCTATGTCTGTGGGGCGGCTTGGCTGAGCCTGGAAGCCACCTGACCTCCCCCGTCCCTTCCCTGCCAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGGTGAGGGGCGGGGCCGGGGAGGGGCGGGGCGGGATGGGGCTGTGGGCCCCTCCCACCGTCAGTGCTGGCCACCGGAGGCTTCCCGGGTTCCTGGGGGCTGTGCCACCGCCTCTGAGGCATGCTTGCTTTCTTCCCTTTTCAAACCCTTCTGCTTCCTTCTTTAATGACATTGTTGATTGTGGATAATCTGAAAACTACACAAAAATATAAAGAGCCAAAATCTCACCCAAATCCACCTCCTAGAGTGGCTGTTGGGCTCCGTCAGCATCCAGGCGGCCGTCTGTGTTCCGCACGGCCCAGCCCATCGATAGCCGCCTGCACCAGGCCTGTCTGCCCTCTGTGAGCCTCCCCACAGGGTTCCCTCCACAAACACCCTGTTCTCCCACCCAGGGCTGGCTGCTTCCTGGAAAACAGCTGGATGGTTTTGTGCATGACAGACAAACACAGGGTGATTTTCGTGGCTAAAATACTCCCTGGAGCTTTTGGCAGGGTGAGGGGCTGGCTCCAGCTGAGCCACGCCTTGAGTGAAATGACTGTGAGGAGAATAAACTGCCGCTGCCCTCCAGGATCACTGGGGCTGGCTGGGGAGAACCCCCGTTTCTGGGAGCACAGTCCCAGGATGCCAAGGCGAGCTTGGTGCCGAGATGTGAACTCCTGAGTGTAAACAGCGGGGGCTGACTTGACATGCTTTGTATGCTTTTCATTTGTTCCTGCAGCTGTATGCCCCTAAGGTGAGTCCAGCCCCCTTCTGCTTCCTCTGGGGCCTCGCCAGTGAGCCCCACCTTGCTGGGGCTGGTTCCTCCTGCCCTTCTGGGTATCCCTCACATCTGGGGTCTTGTCTTCTTGTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTTTCACTTTTGTTGCCCAGGCTTCAGTGCAATGGTGTGATCTCTAGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAGTTCCCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGATCTTGAACTCCCTACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTCTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGTCATCATGGCTAACTGCAGCCTCTACCTTCTAGGCTCAAGCAATCCTCCCATCTCAGCCCCTAAGTAGCTAGGACTGCACGCATGCATCCCCATGCCCAGCTAATATTTACATTTTTTGTAGAGATGAAGTTTCACTATATTGCCCAGGCTGGTCTCCAACTCCTGGACTCGAGCGATCCTCCTGCCTCGGCCTCCCCAGGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGGGGTATTGTCTTCTTATGGCACCTGACTGTGGTGGGCCCTGGGAAGGAAGTAGCAGAAGAGGGTTCTTCTTGGTTTCCTGGACAGTAACTGAGTGTTCTGGAGGCCCCAGGGCCTGGCTTTGTTTAGGGACAAAGGGAACTGGTAACCAGAAGCCGAGAGTTTAAACACCCACTGCCCTTCTTCCCTGCTCCTGCTGCTGCAACCCAGCTTAACCAGCCAGGAGTGCTAGGAACCCAAGCAGGGCCCCCGAGCACACAGCAGGCAGCTCACGAATTCTCTTTTCCTGTTCTCCCTTGGGAGCTGGGAGGATCTTAATCAGGCAATAAGAGATGGCACTGAGCAGCCAGCTAATTTTTTAAATCACTTTATTGTTTAACCATATGACTCACCCACTTAAAAAAGGGTACAGTTCAGTGGGTTTTAGTGTATTCACAGATGTGTGCAACCCTCACCACAGTTAATTTTAGAACATTTTCCTGCCCCTAAAAGAAACTCTGCATGAAGCCAGCTGTTTTTAAATTAGCAAAGTTATTTTGCATCCTTTAA | CAGCTGTGGGGGCGCTGTTGATGCGCAGCCAGGCCTCGCCGCCAGAGCCCGCACGCTTCCATTCCGCTGACTTCATCGACGCCCTCAGGATCGCTGGGCCGGCCCTGTGGGAGAGTGAATGTGGCTTTTGCCAAAGTTGAGTCTGGAGCCTGGAAACTTCCCTATGGGCAGCCTTGATAGTGGAGTGGCCCAAGGAGCCCACCCAGCCGACCCTGCCCCTCCCGTGGCTGGTGGGCGGCACCAGGGGCTGCCTGGCTTTGCTCGTTCACCAACATCACCTGGGCTGGCCAGGGCGCGCTCACTTCTGCCACCACCGAGGGCCCTGGGCGAAGGAGTGAATACCAGGCTGCCTTGGCAGGGATGTGTTGAGGGCTGTGGGGAGTCGGACAGCGGCGGGGGTCAGAGGAGGAGGAGGGTGCACCGTGCAGGCTGAAGGGCCACGTTACCCTGAGGTTGGCCAGGCTCCCCAGGCCTAGCCTCCCAGCTCCCCCACTTTCTCCCCACCCTCCACCAGTGGCAAAGCCAGCCCCTTCAGGGCGCACGGTGTCTGCCCCCAAGGAGGGCCCATTCCGTTGGGGTTAATGTTGGCCACCTCTTTCTGTTTGTCTCTGGCAGAAATCACCAAGCCGCCCTCAGACGACAGCCCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATGGGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGGCCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCGGGCGGTTCCCAGCATGGCCCCTTCACAGGTAAGGAGCCTGAGATATGGAATGATCTGGAGGAGGCAGGAGAGTAGTCTGGGCAGCTTTGGGGAGTGGAGCAGGGATGTGCTACCCCAGGCCCTCTTGCACATGTGGCAGACATTGCTAATCGATCACAGCATTCAGCCTTTCCCACTGAGCCTGTGCTTGGCATCAGAATCCTTCAACACAGAGGCCTGCATGGCTGTAGCAACCCACCCTTTGGCACTGTAGGTGTGGAGAAAGCTCCTTGGACTTGACCTTCATATTCTAGTAGGACATGTGCTGTGTTGTCCACAAATCCTCATGTACCCTAGAAATGAATGTGGGGGCGGCTGGGCTCTCTCCAGAGCTGAAGGAATCACTCTGTACCATACAGCAGCTTTGTCTTGAGTGCAGCTGGGATTTGTGGCTGAGCAGTTACAATTCCTACGTGGCCCAGGCACCAGGAACGCAGGCTGTGTTTGTAGATGGCTGGGCAGCCGCACCGCAGAGCTGCACCATGCTGGTTTGTATCACATGGGTGACCATGGTATGTCTAAGAAGGTGGAGTCCCTGTGAGGTCTGCAGGTGCCCCCACAGCTCCAGGCCACCTTGAGGATTGCCTCTGCCTGCCCAGCCCTGAGTTCCCTCTCCCCTGTCCTGTCCCACTGTCACCCCAAGCCGGCCTCATTGGGAGCCTGTTGGATGGCAGGGTATAGATGTAACCTGATTCTCTCTGGGGAGCGGGGTTATCTGGCTTCTCAAGAGCTCCTAGGAGCCCACAGTGGTGGCACCATCACAGTCGCAGCAGCCCCCAGAGAACGCGGCCCTGTCTGTTCCTGGCGTGCTCTGTGCTGCCCCGCCTGGGTTCCCTGCCCCAGTCGCAGGCCCCTTGGAGGAGGTACCATGTGTCTCCCGTTTCACAGATGAGCCCCGGGGAGCTCACTCTAGTAGTGGCCAGAGAGGCCTGCGGCTCAGGGAGCGGGGCACATTTCCAACAGGACACACCGCCCTGGTCTGAGTCTCGTGGGTAGTGGGAGCAGAGGAGAGCGCCCTATGTCTGTGGGGCGGCTTGGCTGAGCCTGGAAGCCACCTGACCTCCCCCGTCCCTTCCCTGCCAGGCATCGCATGCGGAAAGTCCATGATGAGCTCCGTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGGGCCTCGTCCAGAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCGGTGAGGGGCGGGGCCGGGGAGGGGCGGGGCGGGATGGGGCTGTGGGCCCCTCCCACCGTCAGTGCTGGCCACCGGAGGCTTCCCGGGTTCCTGGGGGCTGTGCCACCGCCTCTGAGGCATGCTTGCTTTCTTCCCTTTTCAAACCCTTCTGCTTCCTTCTTTAATGACATTGTTGATTGTGGATAATCTGAAAACTACACAAAAATATAAAGAGCCAAAATCTCACCCAAATCCACCTCCTAGAGTGGCTGTTGGGCTCCGTCAGCATCCAGGCGGCCGTCTGTGTTCCGCACGGCCCAGCCCATCGATAGCCGCCTGCACCAGGCCTGTCTGCCCTCTGTGAGCCTCCCCACAGGGTTCCCTCCACAAACACCCTGTTCTCCCACCCAGGGCTGGCTGCTTCCTGGAAAACAGCTGGATGGTTTTGTGCATGACAGACAAACACAGGGTGATTTTCGTGGCTAAAATACTCCCTGGAGCTTTTGGCAGGGTGAGGGGCTGGCTCCAGCTGAGCCACGCCTTGAGTGAAATGACTGTGAGGAGAATAAACTGCCGCTGCCCTCCAGGATCACTGGGGCTGGCTGGGGAGAACCCCCGTTTCTGGGAGCACAGTCCCAGGATGCCAAGGCGAGCTTGGTGCCGAGATGTGAACTCCTGAGTGTAAACAGCGGGGGCTGACTTGACATGCTTTGTATGCTTTTCATTTGTTCCTGCAGCTGTATGCCCCTAAGGTGAGTCCAGCCCCCTTCTGCTTCCTCTGGGGCCTCGCCAGTGAGCCCCACCTTGCTGGGGCTGGTTCCTCCTGCCCTTCTGGGTATCCCTCACATCTGGGGTCTTGTCTTCTTGTTTTCTTTTTCTTTTTTTTTTGAGACGGAGTTTCACTTTTGTTGCCCAGGCTTCAGTGCAATGGTGTGATCTCTAGGCTCACCGCAACCTCTGCCTCCCAGGTTCAAGCAGTTCCCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGATCTTGAACTCCCTACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTCTGAGACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGTCATCATGGCTAACTGCAGCCTCTACCTTCTAGGCTCAAGCAATCCTCCCATCTCAGCCCCTAAGTAGCTAGGACTGCACGCATGCATCCCCATGCCCAGCTAATATTTACATTTTTTGTAGAGATGAAGTTTCACTATATTGCCCAGGCTGGTCTCCAACTCCTGGACTCGAGCGATCCTCCTGCCTCGGCCTCCCCAGGTGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGGGGTATTGTCTTCTTATGGCACCTGACTGTGGTGGGCCCTGGGAAGGAAGTAGCAGAAGAGGGTTCTTCTTGGTTTCCTGGACAGTAACTGAGTGTTCTGGAGGCCCCAGGGCCTGGCTTTGTTTAGGGACAAAGGGAACTGGTAACCAGAAGCCGAGAGTTTAAACACCCACTGCCCTTCTTCCCTGCTCCTGCTGCTGCAACCCAGCTTAACCAGCCAGGAGTGCTAGGAACCCAAGCAGGGCCCCCGAGCACACAGCAGGCAGCTCACGAATTCTCTTTTCCTGTTCTCCCTTGGGAGCTGGGAGGATCTTAATCAGGCAATAAGAGATGGCACTGAGCAGCCAGCTAATTTTTTAAATCACTTTATTGTTTAACCATATGACTCACCCACTTAAAAAAGGGTACAGTTCAGTGGGTTTTAGTGTATTCACAGATGTGTGCAACCCTCACCACAGTTAATTTTAGAACATTTTCCTGCCCCTAAAAGAAACTCTGCATGAAGCCAGCTGTTTTTAAATTAGCAAAGTTATTTTGCATCCTTTAAN | pathogenic | 179,893 |
Chromosome 11, position 68761540, gene CPT1A (carnitine palmitoyltransferase 1A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TTAAAGATGTGTTTCCTTAAAAAGAATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCCGGACAACATGGTGAAACCCTGTCTCTACAAAAAAATACACACACACACACAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAGGAGGTGGAGGTGGGAGGATCACCTGAGATGGGGGAGATTCAGGCTGCCATGAGCCATGATCATGCTTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTTGTCTCAAAAAAATAAAAAATAAGTGCAAGACTGCCAAGGACATCCATAGCAATGATCAGCAGTAATTCCTTTACGGCGGTAGAACCGCAAGGTAACGGGGGCACCCAGCACGGAGATGGGCCCATCACACCCCATTACCCATCCCATCACCACGCCCCACTGCGCCTCGCCCAGCCCCGCCGCACTCACCGGTCCAAAGCCCCCTCCGCTGGACACGTACTCTGGGTTATTCTCCAAGTCAAACAGCTCCACTTGCTGCTGAGGGGTCTGGCTTGTTGATAATCTCCAAGGCTCAGATAAAACCTATTGAGTGAAACAGGGAAATGTTTCCTAATCCCCTCCTCTACCGTCCCTCAGGAGTCGCTTTGGGAAGACGAGAAAAGCCTGGCTTGGTCTTTTGATTGTTCCACACACCACAAGTCTATGTCTCCAAAGGCCTCACTGGCTTGGGCAGCGTATCTGCAGAGAGCATGCGGGGTGGGTGGGGCCCCCAGACTGGGGCAGGGAGTGCAGGGTGGGGGTGGGGGCATACCAGCAAATAGCATCTCAGACAGTGAAGGTAACAGATATATGGAGTAAGATTCGGAACGGGGACAGAGGTGTCAGACTTGTACCAACTCCCACGAGCCAGCTGCCATATTTTCAGAGAATTTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTACCCTGACACCAACCACCTGTTCAGTTCCAAAGCAGCCACCTGCTATGCCTTTCCTCATTGTGTGTCCTGGCCTAATTTAAAGACTCTCAGGAAGTAGAATATGATTTGGAGAAGTATCATTTGTAACATGCGTCTCTGTCCTTGTCCCTACCTTTACCTTTTAATATTTTAATACCTTCTGTACCCTTGAAAGGGGCAGAGGAAAGAAGCTGAATTGAGCACCCCTAAAGAAGAAGGTACAGGAATGATGAGATCAGAGAAGCTGGAGTGATGGCCTCCAGAAGCCTTTTAGGGAAGTGTGACAAGCACGTTGTGTCCTCAGCCTGATGGCACATTACCGTCTGGGCCGGGTCCACCATGGCCCGCACGAAGTCGCATGACTCAGTGGTGCAGGAGCGCACGGTCTCCGTCCTCCCCTCTCGGAAGAGCCGGGTCATGGAGGCCTCGTATGTGAGGCAAAACTTGCCCATGTCCTGGGGAAAGAGAAGTACTTCAGTGCACGGCAGGGCATGCTGATATGTCTAAAACGTAAGGAAGGATTGGGTAAGATTGGCAAGGAGACGTGGACTTCATTGTCAACATTTTTTTGAGACGGGGTCTTGCTGTTGCCCAGGCTGGCATGCAGTAGCATGATCACAGCTCACTGCAGCTTCAACCTCCCCCTGCTCCGGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCTAATTTTTTTAAAATTTTTTTTGTAGAGACAGGGTTTCACCACATTGCCCAGGCTGGTCTTAAACTCCTGGCTCAAGCGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTATTGTCGAATCATATTTTCAGTCTCTGGCCGCTTTTACATGTGGGTAGTGACGTGGCAGCAGACAGGTGTCACTGGCTTCAGGAAGGGCCTGGTGGAGGTGGGTCAGTTTCTAGGTTAACCAGGTTTCTGTTTCAAGATGCAACTGATACTATGACACCCCCCCCACCCCCGAGTCCAACACACCTCTGCTGCATTCCCTTCAGGCTAAGGTGCAGCCTGCAGCAGTGTACAGAAGGAATGCCGTGCACAGCAGGGGATCTGTGTTTGAAATGATTTAAAGACACAACGTATTGCCTGGAGCAATTCCACTGCGTCTGGAAGATGGTGAGAATGATCTGGGAGAGACTGTGCTGGGGTGCAGGAAGAATGTCTAGCAGGAGGGCGGGAAGTGGGTGGGGCCGGAGCCTGAAGCACAGCCACTGCCCCATTAGACAGGA | TTAAAGATGTGTTTCCTTAAAAAGAATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCCGGACAACATGGTGAAACCCTGTCTCTACAAAAAAATACACACACACACACAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAGGAGGTGGAGGTGGGAGGATCACCTGAGATGGGGGAGATTCAGGCTGCCATGAGCCATGATCATGCTTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTTGTCTCAAAAAAATAAAAAATAAGTGCAAGACTGCCAAGGACATCCATAGCAATGATCAGCAGTAATTCCTTTACGGCGGTAGAACCGCAAGGTAACGGGGGCACCCAGCACGGAGATGGGCCCATCACACCCCATTACCCATCCCATCACCACGCCCCACTGCGCCTCGCCCAGCCCCGCCGCACTCACCGGTCCAAAGCCCCCTCCGCTGGACACGTACTCTGGGTTATTCTCCAAGTCAAACAGCTCCACTTGCTGCTGAGGGGTCTGGCTTGTTGATAATCTCCAAGGCTCAGATAAAACCTATTGAGTGAAACAGGGAAATGTTTCCTAATCCCCTCCTCTACCGTCCCTCAGGAGTCGCTTTGGGAAGACGAGAAAAGCCTGGCTTGGTCTTTTGATTGTTCCACACACCACAAGTCTATGTCTCCAAAGGCCTCACTGGCTTGGGCAGCGTATCTGCAGAGAGCATGCGGGGTGGGTGGGGCCCCCAGACTGGGGCAGGGAGTGCAGGGTGGGGGTGGGGGCATACCAGCAAATAGCATCTCAGACAGTGAAGGTAACAGATATATGGAGTAAGATTCGGAACGGGGACAGAGGTGTCAGACTTGTACCAACTCCCACGAGCCAGCTGCCATATTTTCAGAGAATTTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTACCCTGACACCAACCACCTGTTCAGTTCCAAAGCAGCCACCTGCTATGCCTTTCCTCATTGTGTGTCCTGGCCTAATTTAAAGACTCTCAGGAAGTAGAATATGATTTGGAGAAGTATCATTTGTAACATGCGTCTCTGTCCTTGTCCCTACCTTTACCTTTTAATATTTTAATACCTTCTGTACCCTTGAAAGGGGCAGAGGAAAGAAGCTGAATTGAGCACCCCTAAAGAAGAAGGTACAGGAATGATGAGATCAGAGAAGCTGGAGTGATGGCCTCCAGAAGCCTTTTAGGGAAGTGTGACAAGCACGTTGTGTCCTCAGCCTGATGGCACATTACCGTCTGGGCCGGGTCCACCATGGCCCGCACGAAGTCGCATGACTCAGTGGTGCAGGAGCGCACGGTCTCCGTCCTCCCCTCTCGGAAGAGCCGGGTCATGGAGGCCTCGTATGTGAGGCAAAACTTGCCCATGTCCTGGGGAAAGAGAAGTACTTCAGTGCACGGCAGGGCATGCTGATATGTCTAAAACGTAAGGAAGGATTGGGTAAGATTGGCAAGGAGACGTGGACTTCATTGTCAACATTTTTTTGAGACGGGGTCTTGCTGTTGCCCAGGCTGGCATGCAGTAGCATGATCACAGCTCACTGCAGCTTCAACCTCCCCCTGCTCCGGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCTAATTTTTTTAAAATTTTTTTTGTAGAGACAGGGTTTCACCACATTGCCCAGGCTGGTCTTAAACTCCTGGCTCAAGCGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTATTGTCGAATCATATTTTCAGTCTCTGGCCGCTTTTACATGTGGGTAGTGACGTGGCAGCAGACAGGTGTCACTGGCTTCAGGAAGGGCCTGGTGGAGGTGGGTCAGTTTCTAGGTTAACCAGGTTTCTGTTTCAAGATGCAACTGATACTATGACACCCCCCCCACCCCCGAGTCCAACACACCTCTGCTGCATTCCCTTCAGGCTAAGGTGCAGCCTGCAGCAGTGTACAGAAGGAATGCCGTGCACAGCAGGGGATCTGTGTTTGAAATGATTTAAAGACACAACGTATTGCCTGGAGCAATTCCACTGCGTCTGGAAGATGGTGAGAATGATCTGGGAGAGACTGTGCTGGGGTGCAGGAAGAATGTCTAGCAGGAGGGCGGGAAGTGGGTGGGGCCGGAGCCTGAAGCACAGCCACTGCCCCATTAGACAGGANNNNN | pathogenic | 179,931 |
Is the genetic mutation found on chromosome 11 at position 68761565, within the gene CPT1A (carnitine palmitoyltransferase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | ATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCCGGACAACATGGTGAAACCCTGTCTCTACAAAAAAATACACACACACACACAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAGGAGGTGGAGGTGGGAGGATCACCTGAGATGGGGGAGATTCAGGCTGCCATGAGCCATGATCATGCTTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTTGTCTCAAAAAAATAAAAAATAAGTGCAAGACTGCCAAGGACATCCATAGCAATGATCAGCAGTAATTCCTTTACGGCGGTAGAACCGCAAGGTAACGGGGGCACCCAGCACGGAGATGGGCCCATCACACCCCATTACCCATCCCATCACCACGCCCCACTGCGCCTCGCCCAGCCCCGCCGCACTCACCGGTCCAAAGCCCCCTCCGCTGGACACGTACTCTGGGTTATTCTCCAAGTCAAACAGCTCCACTTGCTGCTGAGGGGTCTGGCTTGTTGATAATCTCCAAGGCTCAGATAAAACCTATTGAGTGAAACAGGGAAATGTTTCCTAATCCCCTCCTCTACCGTCCCTCAGGAGTCGCTTTGGGAAGACGAGAAAAGCCTGGCTTGGTCTTTTGATTGTTCCACACACCACAAGTCTATGTCTCCAAAGGCCTCACTGGCTTGGGCAGCGTATCTGCAGAGAGCATGCGGGGTGGGTGGGGCCCCCAGACTGGGGCAGGGAGTGCAGGGTGGGGGTGGGGGCATACCAGCAAATAGCATCTCAGACAGTGAAGGTAACAGATATATGGAGTAAGATTCGGAACGGGGACAGAGGTGTCAGACTTGTACCAACTCCCACGAGCCAGCTGCCATATTTTCAGAGAATTTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTACCCTGACACCAACCACCTGTTCAGTTCCAAAGCAGCCACCTGCTATGCCTTTCCTCATTGTGTGTCCTGGCCTAATTTAAAGACTCTCAGGAAGTAGAATATGATTTGGAGAAGTATCATTTGTAACATGCGTCTCTGTCCTTGTCCCTACCTTTACCTTTTAATATTTTAATACCTTCTGTACCCTTGAAAGGGGCAGAGGAAAGAAGCTGAATTGAGCACCCCTAAAGAAGAAGGTACAGGAATGATGAGATCAGAGAAGCTGGAGTGATGGCCTCCAGAAGCCTTTTAGGGAAGTGTGACAAGCACGTTGTGTCCTCAGCCTGATGGCACATTACCGTCTGGGCCGGGTCCACCATGGCCCGCACGAAGTCGCATGACTCAGTGGTGCAGGAGCGCACGGTCTCCGTCCTCCCCTCTCGGAAGAGCCGGGTCATGGAGGCCTCGTATGTGAGGCAAAACTTGCCCATGTCCTGGGGAAAGAGAAGTACTTCAGTGCACGGCAGGGCATGCTGATATGTCTAAAACGTAAGGAAGGATTGGGTAAGATTGGCAAGGAGACGTGGACTTCATTGTCAACATTTTTTTGAGACGGGGTCTTGCTGTTGCCCAGGCTGGCATGCAGTAGCATGATCACAGCTCACTGCAGCTTCAACCTCCCCCTGCTCCGGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCTAATTTTTTTAAAATTTTTTTTGTAGAGACAGGGTTTCACCACATTGCCCAGGCTGGTCTTAAACTCCTGGCTCAAGCGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTATTGTCGAATCATATTTTCAGTCTCTGGCCGCTTTTACATGTGGGTAGTGACGTGGCAGCAGACAGGTGTCACTGGCTTCAGGAAGGGCCTGGTGGAGGTGGGTCAGTTTCTAGGTTAACCAGGTTTCTGTTTCAAGATGCAACTGATACTATGACACCCCCCCCACCCCCGAGTCCAACACACCTCTGCTGCATTCCCTTCAGGCTAAGGTGCAGCCTGCAGCAGTGTACAGAAGGAATGCCGTGCACAGCAGGGGATCTGTGTTTGAAATGATTTAAAGACACAACGTATTGCCTGGAGCAATTCCACTGCGTCTGGAAGATGGTGAGAATGATCTGGGAGAGACTGTGCTGGGGTGCAGGAAGAATGTCTAGCAGGAGGGCGGGAAGTGGGTGGGGCCGGAGCCTGAAGCACAGCCACTGCCCCATTAGACAGGAAGCCTCGGGTGGGCTGGCAGATGCA | ATAAAGCAAAAATACCCCATCTTCAGAAAAAGGAACTTCTTTTCATACATACCGTCTCAGGGCAAGAGAACTTGGAAGAAATGTGGAAATTGATGAGGTTCTCTCCCACAAGGATGTACGACACACCATAGCCGTCATCAGCAACCTGGAGGACAAGGGAATTTGAATTTGTTGCTGGGAAATGAGACAACGTGAAAAAGGGACTTTCTAATGTTCTAAATGCAACACTGGCGGGGCTCGGTGGCTTCTCCTTGTAATCCCAGCATTTTGGGAGGCTGAGGCAGGCGGGTCACTTGAGCCCAGGGGTTCGAGACCAGCCCGGACAACATGGTGAAACCCTGTCTCTACAAAAAAATACACACACACACACAAATTAGCTGGGCATGGTGGCATGCATCTGTAGTCCCAGCTACTCAGGAGGTGGAGGTGGGAGGATCACCTGAGATGGGGGAGATTCAGGCTGCCATGAGCCATGATCATGCTTACTGCACTCCAGCCTGGGTGACAGAGCGAGACCTTGTCTCAAAAAAATAAAAAATAAGTGCAAGACTGCCAAGGACATCCATAGCAATGATCAGCAGTAATTCCTTTACGGCGGTAGAACCGCAAGGTAACGGGGGCACCCAGCACGGAGATGGGCCCATCACACCCCATTACCCATCCCATCACCACGCCCCACTGCGCCTCGCCCAGCCCCGCCGCACTCACCGGTCCAAAGCCCCCTCCGCTGGACACGTACTCTGGGTTATTCTCCAAGTCAAACAGCTCCACTTGCTGCTGAGGGGTCTGGCTTGTTGATAATCTCCAAGGCTCAGATAAAACCTATTGAGTGAAACAGGGAAATGTTTCCTAATCCCCTCCTCTACCGTCCCTCAGGAGTCGCTTTGGGAAGACGAGAAAAGCCTGGCTTGGTCTTTTGATTGTTCCACACACCACAAGTCTATGTCTCCAAAGGCCTCACTGGCTTGGGCAGCGTATCTGCAGAGAGCATGCGGGGTGGGTGGGGCCCCCAGACTGGGGCAGGGAGTGCAGGGTGGGGGTGGGGGCATACCAGCAAATAGCATCTCAGACAGTGAAGGTAACAGATATATGGAGTAAGATTCGGAACGGGGACAGAGGTGTCAGACTTGTACCAACTCCCACGAGCCAGCTGCCATATTTTCAGAGAATTTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATTTTTATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTACCCTGACACCAACCACCTGTTCAGTTCCAAAGCAGCCACCTGCTATGCCTTTCCTCATTGTGTGTCCTGGCCTAATTTAAAGACTCTCAGGAAGTAGAATATGATTTGGAGAAGTATCATTTGTAACATGCGTCTCTGTCCTTGTCCCTACCTTTACCTTTTAATATTTTAATACCTTCTGTACCCTTGAAAGGGGCAGAGGAAAGAAGCTGAATTGAGCACCCCTAAAGAAGAAGGTACAGGAATGATGAGATCAGAGAAGCTGGAGTGATGGCCTCCAGAAGCCTTTTAGGGAAGTGTGACAAGCACGTTGTGTCCTCAGCCTGATGGCACATTACCGTCTGGGCCGGGTCCACCATGGCCCGCACGAAGTCGCATGACTCAGTGGTGCAGGAGCGCACGGTCTCCGTCCTCCCCTCTCGGAAGAGCCGGGTCATGGAGGCCTCGTATGTGAGGCAAAACTTGCCCATGTCCTGGGGAAAGAGAAGTACTTCAGTGCACGGCAGGGCATGCTGATATGTCTAAAACGTAAGGAAGGATTGGGTAAGATTGGCAAGGAGACGTGGACTTCATTGTCAACATTTTTTTGAGACGGGGTCTTGCTGTTGCCCAGGCTGGCATGCAGTAGCATGATCACAGCTCACTGCAGCTTCAACCTCCCCCTGCTCCGGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCTAATTTTTTTAAAATTTTTTTTGTAGAGACAGGGTTTCACCACATTGCCCAGGCTGGTCTTAAACTCCTGGCTCAAGCGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTATTGTCGAATCATATTTTCAGTCTCTGGCCGCTTTTACATGTGGGTAGTGACGTGGCAGCAGACAGGTGTCACTGGCTTCAGGAAGGGCCTGGTGGAGGTGGGTCAGTTTCTAGGTTAACCAGGTTTCTGTTTCAAGATGCAACTGATACTATGACACCCCCCCCACCCCCGAGTCCAACACACCTCTGCTGCATTCCCTTCAGGCTAAGGTGCAGCCTGCAGCAGTGTACAGAAGGAATGCCGTGCACAGCAGGGGATCTGTGTTTGAAATGATTTAAAGACACAACGTATTGCCTGGAGCAATTCCACTGCGTCTGGAAGATGGTGAGAATGATCTGGGAGAGACTGTGCTGGGGTGCAGGAAGAATGTCTAGCAGGAGGGCGGGAAGTGGGTGGGGCCGGAGCCTGAAGCACAGCCACTGCCCCATTAGACAGGAAGCCTCGGGTGGGCTGGCAGA | pathogenic | 179,933 |
Determine whether the variant at chromosome 11, position 68762735, in gene CPT1A (carnitine palmitoyltransferase 1A) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTACCCTGACACCAACCACCTGTTCAGTTCCAAAGCAGCCACCTGCTATGCCTTTCCTCATTGTGTGTCCTGGCCTAATTTAAAGACTCTCAGGAAGTAGAATATGATTTGGAGAAGTATCATTTGTAACATGCGTCTCTGTCCTTGTCCCTACCTTTACCTTTTAATATTTTAATACCTTCTGTACCCTTGAAAGGGGCAGAGGAAAGAAGCTGAATTGAGCACCCCTAAAGAAGAAGGTACAGGAATGATGAGATCAGAGAAGCTGGAGTGATGGCCTCCAGAAGCCTTTTAGGGAAGTGTGACAAGCACGTTGTGTCCTCAGCCTGATGGCACATTACCGTCTGGGCCGGGTCCACCATGGCCCGCACGAAGTCGCATGACTCAGTGGTGCAGGAGCGCACGGTCTCCGTCCTCCCCTCTCGGAAGAGCCGGGTCATGGAGGCCTCGTATGTGAGGCAAAACTTGCCCATGTCCTGGGGAAAGAGAAGTACTTCAGTGCACGGCAGGGCATGCTGATATGTCTAAAACGTAAGGAAGGATTGGGTAAGATTGGCAAGGAGACGTGGACTTCATTGTCAACATTTTTTTGAGACGGGGTCTTGCTGTTGCCCAGGCTGGCATGCAGTAGCATGATCACAGCTCACTGCAGCTTCAACCTCCCCCTGCTCCGGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCTAATTTTTTTAAAATTTTTTTTGTAGAGACAGGGTTTCACCACATTGCCCAGGCTGGTCTTAAACTCCTGGCTCAAGCGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTATTGTCGAATCATATTTTCAGTCTCTGGCCGCTTTTACATGTGGGTAGTGACGTGGCAGCAGACAGGTGTCACTGGCTTCAGGAAGGGCCTGGTGGAGGTGGGTCAGTTTCTAGGTTAACCAGGTTTCTGTTTCAAGATGCAACTGATACTATGACACCCCCCCCACCCCCGAGTCCAACACACCTCTGCTGCATTCCCTTCAGGCTAAGGTGCAGCCTGCAGCAGTGTACAGAAGGAATGCCGTGCACAGCAGGGGATCTGTGTTTGAAATGATTTAAAGACACAACGTATTGCCTGGAGCAATTCCACTGCGTCTGGAAGATGGTGAGAATGATCTGGGAGAGACTGTGCTGGGGTGCAGGAAGAATGTCTAGCAGGAGGGCGGGAAGTGGGTGGGGCCGGAGCCTGAAGCACAGCCACTGCCCCATTAGACAGGAAGCCTCGGGTGGGCTGGCAGATGCACAGGGAAGGTCTCTTCCAAAAGCTCCTGTTTTCTGGGTGAAGCAGAAGAAAGCGGGCCTGCTGAGGGCCAGGCTGGAGAGGAGGTGCTGGCAGCGGGAGAGGGGTGTGATGTGGCATTCAGGGGCATGGAAACATGGTGCCTGGCCCACTGCGGTCAGCGCTCACTCGTGGGGAGGGGAGACGAGCCAGCTGTTGAATGCTTTTTTTCCAGCTAGGCTGGTGCCTTGGGAACAGAATCACAGCAGCTGGAGAGCTGGGCTGAACCCGGGAGCCTCTGCAGGCTCCCCAGGTAAGTTCAGGGGGACCAGGGAGTCAAGGTAAGGGATGATCCCAAAGAACCATGGAACCCACACCCAGAGAATAGAAAAGGGAGGGCAGGGAGGGACAAGGGGATGGGGTCAAGGAACGTGGGCATCTGGGCCTAGAGAGGACAGCACGGCAGGAGGGGCTGATGCCCCTGAGGCTGAGCCTTGGTGGAGATGACGGGATAGTGCAGCAAGGGCCCCTGCTGGGAATAGCAGATGGTGGATAAGGACAGAGACTGAGTCCAAGGCAGCACGCGGCTGTGGGAGGAACAGCATCTGCGTGCTGCCCCAAGAAGGGGCCCGGGGCCACCAGGCCAGCTCAAAGAGGACCAGGTTCCAAGTGGGGACGAGAAGGTGATAAGCAGCAGTTTATGGACCCAAATGATTCCTGACCAGACACATCCCTGCACATTAGTGTGCACCCTGGCACAGGCCCTGGTGGCCCCAGGGTGGCAGACCCACCCATCTGCAAAGGACACCATGTGGCAGGCTGATACTGTCAAATGAACCCAGAAGAGGGTGCCAGAGGCAAGGCTGGGCTGAGCACAGGGCCTGCTCAGCCTGGGGAAGGGGAAGCCGGACAGAGCACAGGACCCACTCAGCTGGGGAACGGGGAGCCGGACAGAGCACAGGACCCACTCAGCTGGGGAACGGAGAGTCAGACAGAGCACAGGACCCGCTCAGCCGGGGAAGGCCTGGCACCTGCACACAGGCCCAGCTGAAGTCAGGCTCCTCACAGTGCAGCCAAGATCTCTGGAGGAGAGGAGGCCCCTGAAAGGCAGAAGGTAGCGTCCAGGACCAGGGCCCCTGAAAGGCAGAAGGAAGCGTCCAGAACCAGTGAAATGAGAGTGCATCAGCCAGCAGA | TTTCAAGCTGGCTATTAAATACAGCCACTATTAAAAATTAAATTTGCCAGGCGCAATGGTTCATGTCTGTAATCTCAGCACTTTGGGAACCCGACGCGGGTGGATTGCCTGAGCTCAGGAGTTCGAGACCAGCCTGGGCAACACGGTGAAACCCCGTCTCTACTAAAATACAACAACAAAAAAAATTAGCCAGGCATGGCAGCGTGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATAGCTTGAACCCGGGAGGCGGAGGTTTCAGTGAGCCAAGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCATCTCCAAAAAATAAAAAATAAATAAATAAATAAATAAAACTTAAATTAAATTTGAGCTGGGCACAGTGGTGCACATCAGCTACTCAGCAGGCTAAGGACGAAGAATTGCTTGTGTCTAGGAGTTTGAGCCCAGCCTGGGCAACACTGTAAGACCCTGTCTCAAAAAACAATAATAATATATTTCATAAACTTACAATAAAATAAAGGATTTTTAAAACAAAGGTGGTACGCGCTCACAGCTCATCACTCCCTAGTTACTTCCGTGCGTCTTACTGTGACGTAAGCTCTCGAGGTCTTCGGGTCTATTAAGTCAGGGGCTACATGTGACAGCGAAGTTTTTGAAGAAATGCAGTACTAAACGCGCTGCTCACATTTTCCATTTTATGACAGCTACACCCACAGACCCGTTTTTTTCAAATGCCCATTCTGACATTAAAATATGTTCATGCAAGGCTGTAGTAATTTACTAAGTTTTGGTCTAGCCAATACAACTGACGGAAGAAGTGGAAGAGACTTACTTCCTTAAGGAAAGGGGACTCCACAGCGAGATATTTAGACACCACGTAAAGGCAGAAGAGGTGACGATCGATCCCAGAGCCGGTCATGGCGAGGCGATACATATGCTGATGCTTCTCAGACGCCAACTTGAACAACTTCAGCCTCTGTTCCACCTGAGTGACAAAAGGTGGGAAGGACATATGTTGCATGTCTCAAGTTGAGCAGTTACGGATCTAAGTTAGCCACCGCACCCGGCTAATATTTTTTGTTATTTTTAGTAGAGACGGGGTTTCAACATGTTGCCCAGGGTGGTTTCGAACTCCTGAGCTCAGGCAATCCGCCCACCTCATCCTCCCAAAGTACTGGGATTACAGGCGTGAGTCACCGCGCCCGGTCTGACAGCCTTTCCAGAATGAAGTTTGTCTCGGAAAAAAGAGCCCTGGCCAGTGTCTCCTCTGGGGATCAGCGGAAAGCACCTGCACGCTCTGGGGATCAGCAGAAAGCACCTGCACGCTGGAGTCAGGCGGACCCAGTGGCCTGGGTCTGACCTCGGCCATTAGTGAGCAGAATGGCCCAGCAGCTGCTGAATTCATCTAGGCCTCTGTTTCTTTATCTATGGAAATGAACTGATGACACTTCTCAGGACCACTGCTAAGAAAATTTAAAGGACAATGTACAGAAAACCCCCAGGCCCCAGCCTGGCACTTGGGGCCCAGCGTGGCAATGGCTCTAATAACCAATGGAAGGTCCCGTGCGACAGTCACAGCTCACCTACCCTGACACCAACCACCTGTTCAGTTCCAAAGCAGCCACCTGCTATGCCTTTCCTCATTGTGTGTCCTGGCCTAATTTAAAGACTCTCAGGAAGTAGAATATGATTTGGAGAAGTATCATTTGTAACATGCGTCTCTGTCCTTGTCCCTACCTTTACCTTTTAATATTTTAATACCTTCTGTACCCTTGAAAGGGGCAGAGGAAAGAAGCTGAATTGAGCACCCCTAAAGAAGAAGGTACAGGAATGATGAGATCAGAGAAGCTGGAGTGATGGCCTCCAGAAGCCTTTTAGGGAAGTGTGACAAGCACGTTGTGTCCTCAGCCTGATGGCACATTACCGTCTGGGCCGGGTCCACCATGGCCCGCACGAAGTCGCATGACTCAGTGGTGCAGGAGCGCACGGTCTCCGTCCTCCCCTCTCGGAAGAGCCGGGTCATGGAGGCCTCGTATGTTATGTGAGGCAAAACTTGCCCATGTCCTGGGGAAAGAGAAGTACTTCAGTGCACGGCAGGGCATGCTGATATGTCTAAAACGTAAGGAAGGATTGGGTAAGATTGGCAAGGAGACGTGGACTTCATTGTCAACATTTTTTTGAGACGGGGTCTTGCTGTTGCCCAGGCTGGCATGCAGTAGCATGATCACAGCTCACTGCAGCTTCAACCTCCCCCTGCTCCGGTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCATGCTAATTTTTTTAAAATTTTTTTTGTAGAGACAGGGTTTCACCACATTGCCCAGGCTGGTCTTAAACTCCTGGCTCAAGCGATCCACCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCTATTGTCGAATCATATTTTCAGTCTCTGGCCGCTTTTACATGTGGGTAGTGACGTGGCAGCAGACAGGTGTCACTGGCTTCAGGAAGGGCCTGGTGGAGGTGGGTCAGTTTCTAGGTTAACCAGGTTTCTGTTTCAAGATGCAACTGATACTATGACACCCCCCCCACCCCCGAGTCCAACACACCTCTGCTGCATTCCCTTCAGGCTAAGGTGCAGCCTGCAGCAGTGTACAGAAGGAATGCCGTGCACAGCAGGGGATCTGTGTTTGAAATGATTTAAAGACACAACGTATTGCCTGGAGCAATTCCACTGCGTCTGGAAGATGGTGAGAATGATCTGGGAGAGACTGTGCTGGGGTGCAGGAAGAATGTCTAGCAGGAGGGCGGGAAGTGGGTGGGGCCGGAGCCTGAAGCACAGCCACTGCCCCATTAGACAGGAAGCCTCGGGTGGGCTGGCAGATGCACAGGGAAGGTCTCTTCCAAAAGCTCCTGTTTTCTGGGTGAAGCAGAAGAAAGCGGGCCTGCTGAGGGCCAGGCTGGAGAGGAGGTGCTGGCAGCGGGAGAGGGGTGTGATGTGGCATTCAGGGGCATGGAAACATGGTGCCTGGCCCACTGCGGTCAGCGCTCACTCGTGGGGAGGGGAGACGAGCCAGCTGTTGAATGCTTTTTTTCCAGCTAGGCTGGTGCCTTGGGAACAGAATCACAGCAGCTGGAGAGCTGGGCTGAACCCGGGAGCCTCTGCAGGCTCCCCAGGTAAGTTCAGGGGGACCAGGGAGTCAAGGTAAGGGATGATCCCAAAGAACCATGGAACCCACACCCAGAGAATAGAAAAGGGAGGGCAGGGAGGGACAAGGGGATGGGGTCAAGGAACGTGGGCATCTGGGCCTAGAGAGGACAGCACGGCAGGAGGGGCTGATGCCCCTGAGGCTGAGCCTTGGTGGAGATGACGGGATAGTGCAGCAAGGGCCCCTGCTGGGAATAGCAGATGGTGGATAAGGACAGAGACTGAGTCCAAGGCAGCACGCGGCTGTGGGAGGAACAGCATCTGCGTGCTGCCCCAAGAAGGGGCCCGGGGCCACCAGGCCAGCTCAAAGAGGACCAGGTTCCAAGTGGGGACGAGAAGGTGATAAGCAGCAGTTTATGGACCCAAATGATTCCTGACCAGACACATCCCTGCACATTAGTGTGCACCCTGGCACAGGCCCTGGTGGCCCCAGGGTGGCAGACCCACCCATCTGCAAAGGACACCATGTGGCAGGCTGATACTGTCAAATGAACCCAGAAGAGGGTGCCAGAGGCAAGGCTGGGCTGAGCACAGGGCCTGCTCAGCCTGGGGAAGGGGAAGCCGGACAGAGCACAGGACCCACTCAGCTGGGGAACGGGGAGCCGGACAGAGCACAGGACCCACTCAGCTGGGGAACGGAGAGTCAGACAGAGCACAGGACCCGCTCAGCCGGGGAAGGCCTGGCACCTGCACACAGGCCCAGCTGAAGTCAGGCTCCTCACAGTGCAGCCAAGATCTCTGGAGGAGAGGAGGCCCCTGAAAGGCAGAAGGTAGCGTCCAGGACCAGGGCCCCTGAAAGGCAGAAGGAAGCGTCCAGAACCAGTGAAATGAGAGTGCATCAGCCA | pathogenic | 179,944 |
Chromosome 11, position 68773410, gene CPT1A (carnitine palmitoyltransferase 1A): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['CPT1A-related_disorder', 'Carnitine_palmitoyl_transferase_1A_deficiency'] | AAAAGATAAAATAACATCCTTTCTGTAGGTAAGGTATCAACTGCTTGCATGCCCTCATACTGCACGTTTACGGGCAAAATCTGCTCATCAATTCTCAAAATCCAGCTCACTGATTCTGAGATGCGATGCCTCTATTCCATGTCACCTTTTAATCACATGATCTTTAGTCAATGATCTGTCACAGACAGGAGCTTGTCACTGTGCTCCTGGTACTCTGCCCAGCTGCTTCTGGTTTACGCATAGTGAGCATGTTACTTGGGAAAGCAAGGCTTCATAACTGTGACAGTCTTTACAGACTGTATTAGCATGCATTTTAAATACGATTTTGGCCCATTCATTCCAGTTCATCTGATATTAACACTGCCTCTTACTTCTCTGTAACTGTTTTCTTAACTTTAGGTGGAGAGAGCATAGACTCTGGAGCCGCTGGCCCGCTTTATCCCTGCCTAGTGCCACCCTGGCAAGCACCTGGCCTCTCTGCACCTGTTTCCTCACCTGTAAAATGGGAAAACAAGATTTTCTGAGGCATAATGGGGACTTGTAAATTTTTAAAAATGGGATAACAAGAGTGCCTCCCAGGTGCAGAGACAGTGAAGCATGAGGTACATGATGCACCAAGCAAAATTCAACAATGGCACAATCGTTACCAAGGTTGGGGGGGCAGTGCCACACGCTGCATATGTGTACAGCACTCAAGTTTTAATACAAGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGCCAGGAGCTCGAGACCAGCCTGCTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGGGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTACACTCCAGCCTGGGTAACAAGAGTGAGATTCTGTCTCAAAAAAAAAGTTGGGAATATCTCAAGCCAATGCCACGATGACTTGTGCTGCCCCCAGAAACCAAGGGCCCCCTGTCTGGGATGGAATGCTCCCTCCAATGGACAAGAAGACCCATTTATGTCCCTGCTAGGGGTGCAGGCTGCTCCTCCAACAGGGGTTGCCAGGTGCAAGCCAAAATATGGCCAGTGCTCAGAAAAGGGAGATGGAAATGCCATGTGTATACAGGGGATCCAGCCCATGGCACCTCCAAGTGGCTGGAGTTTCTCCTTTTATGGAAGGAGATGTCAAAGGCCAGAGACGTTAAGTAATTTGCCCAAAGACATCACTTAATAGCTATATAATATTCCACTGTATGAAAATACCAAAATTTAATTTAGTATGGTGAAAGGAAGATTTACTCTGCCAAAAGGAAAGGATTAAGCTGAAAGCTAAGTCATGCAAGAAGCTTTTTATTTTGTTCCCAAGCAGAGAGCGACAGATGAAACGTGGACCATGTTCACCTGACCTGTGTGAAGTGCAGATTTACCGAGCGCCAGACGAATACGTAACTGACTATTCCCCTACCTGCCCACACTATTTCCACTTTAGCAAATGCTAGGATTCGGGGCTTATTATGGGGCTTAACTCTCCCTCTGTAGAGTGATGAGATCTCACTTTGTCCTCATCCCCCAGACTCTCCCTCTCCCGTGTCAGCTGGGAATCTACGCCTGCTGGAGGGGGATTTGCGAACTTTGCCCGCGTGCGTGGTGAAACACCCAACGCCACCCGGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTATGCCGGGTTTCGGGCCTTCCCTCCCCACTGGGTGAACAGTCTTGGGCAGGTGTAGGAACCCCCAAAGTGCTCACGACAAAACCCTAGGCGGTCAGTTCTTACCTTGTAGTGCGCCAGCTGGAGGGCCAGCTGCACAAAGGCGTCTGGGCTCGTGCGACATTTCTTGATGATTCCTTTACCAAAGGCTACGAATGGGAAGGAATGGAAATCCACGTCGTTTGCCAGAAGATTTGCGGTGTTCAGGGAGGTCTCTATAACCTCTTGACACTTGAGAGAAAGAAGAAAAAGGTTTTACGGAACGAGGGGAGAAAAGTACTGACGCACACCCAGAAGGAAATTGGAGGCTGGTTTTTAGTGCAGCTATAAACTCGGTACTGGGAAGTACACAAACGTTTTCCTGACCCAGAAGCCCTAGTAAGTTAGGGGCATGGCTCCCTGACCCCGGAGGAGCAGCTGCAATGTTATAGCAGGTAGCGGGTCTGACATGAGCAGGCCAGGAGAGGGCTTCCTCCGACACACACTGGGAATATCACGCGACCATCAGTGATGGTCAGGTGGTTGTGAACTGTCTCTCTAAAATAATAATAGGTCACAGCCGGTGCCAGGGAAAGGCAGTCTCTCAGTAGATAGAAATGGAGCTGGTGACCAGCAGCTTCCCGATAAGATCTCAAGCGTTGGGCGAGTGGGCTGAAGCATGCGCACTGAGAGGCAAAATGGCGGCGTCTAACTGGACTATGAGCTTCCTCCAGCAGTGCTAGACAGGCAAGGGCAGAACACCTCAAGTGAGCATGCGCACAACTCCAGTAAACATACTGCGCATGCTCCCTTCCCAAGCGCTGGAGCCACTGTGCATGCGGACAGCCCACAACAAGGGAGGAATTGGGAGAAGTAACACAAGACCCTGGACGCATGCCAATGTATAAAACCTCAAGTCAAGAGGTCAAACCTCGCACTTAATCTCCCAAGTTGGCCGCTTGGCCCTCTTCCAAATGTACTTTCCTTCCTTTCGTTCCTAAAGTTTTTAAAATAAACTTTCCCGCTTTTAAACTTGGTCTCTCCTGCCTTCTGCCCCACAGTCAAATTCGTTCTGAGAAGGCAAGAATTGAGGTTGCTGCAGACCCGTACAGATATGTTCTGACGCTAACAGGAACATGGGTAGGGGACGGGGGCACCCTGGCTTCCAGTGAGACCCCAAAGGGTGTTTCAAATAGTCACACGTCATCTTATGATGACGTCATCACACAGTGGCAATCAAGAAACACATTTTTTTACTTTTTATTATTAATTTTTATTTATTTGAGATAGGGTGTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCGCTGCTCACTGCACCTTCTGCCTCCCTGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCACTTACCACTATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTGGCAGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAAGCAGGAGAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGTGCGAGACTACATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGGTATCTTGGACTCCAGGGAATTTCTCCTTGGATTAAGTGAACTAGGATTTGGTATTTGCAACCCTAAAATTCCTTCCCAAAAGGGCTCCTGTGAATGGGCTGCCTCTGAGCATGTTTAAGAGGTGCCAAAATGAATTAAACTTTGAGAAGTATAAATGAGCAATTTAGAGGCTTTCAGCTCTAACCTATGTGATTTTGGCTTTTAGTTTTTGATTATGAGCATTCTGTAGATGTCTAGTTAAGTTTAAGCTGGAAATAGCGCTGACAGTCTTAGCCAGGAGCTTCAAACAGAAGAAGAAATATTTACCGAGGCTTCCGAGGCAACAGGAGCTGTGACAGCCCCGCAGACCCACGGAACTCCCTGAGCAAACAACTTTCAGCCTCAGTGGTCTTCAACTGAGCTCATGATAGGGCAGGAACTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTACTTCCCCCGGGATGTCCCACTGCAGCCTGGTGGGGTACGGAATGTTCGGATTGATGTCGCCTTTGCAGTGCCCATCCTCCGCATAGCCCAGCTGGAGGCTGTCAATGGACATGACGTACTGTCAAAAATAGAACAAAATTATT | AAAAGATAAAATAACATCCTTTCTGTAGGTAAGGTATCAACTGCTTGCATGCCCTCATACTGCACGTTTACGGGCAAAATCTGCTCATCAATTCTCAAAATCCAGCTCACTGATTCTGAGATGCGATGCCTCTATTCCATGTCACCTTTTAATCACATGATCTTTAGTCAATGATCTGTCACAGACAGGAGCTTGTCACTGTGCTCCTGGTACTCTGCCCAGCTGCTTCTGGTTTACGCATAGTGAGCATGTTACTTGGGAAAGCAAGGCTTCATAACTGTGACAGTCTTTACAGACTGTATTAGCATGCATTTTAAATACGATTTTGGCCCATTCATTCCAGTTCATCTGATATTAACACTGCCTCTTACTTCTCTGTAACTGTTTTCTTAACTTTAGGTGGAGAGAGCATAGACTCTGGAGCCGCTGGCCCGCTTTATCCCTGCCTAGTGCCACCCTGGCAAGCACCTGGCCTCTCTGCACCTGTTTCCTCACCTGTAAAATGGGAAAACAAGATTTTCTGAGGCATAATGGGGACTTGTAAATTTTTAAAAATGGGATAACAAGAGTGCCTCCCAGGTGCAGAGACAGTGAAGCATGAGGTACATGATGCACCAAGCAAAATTCAACAATGGCACAATCGTTACCAAGGTTGGGGGGGCAGTGCCACACGCTGCATATGTGTACAGCACTCAAGTTTTAATACAAGGCTGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGCCAGGAGCTCGAGACCAGCCTGCTCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGGGGCGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTACACTCCAGCCTGGGTAACAAGAGTGAGATTCTGTCTCAAAAAAAAAGTTGGGAATATCTCAAGCCAATGCCACGATGACTTGTGCTGCCCCCAGAAACCAAGGGCCCCCTGTCTGGGATGGAATGCTCCCTCCAATGGACAAGAAGACCCATTTATGTCCCTGCTAGGGGTGCAGGCTGCTCCTCCAACAGGGGTTGCCAGGTGCAAGCCAAAATATGGCCAGTGCTCAGAAAAGGGAGATGGAAATGCCATGTGTATACAGGGGATCCAGCCCATGGCACCTCCAAGTGGCTGGAGTTTCTCCTTTTATGGAAGGAGATGTCAAAGGCCAGAGACGTTAAGTAATTTGCCCAAAGACATCACTTAATAGCTATATAATATTCCACTGTATGAAAATACCAAAATTTAATTTAGTATGGTGAAAGGAAGATTTACTCTGCCAAAAGGAAAGGATTAAGCTGAAAGCTAAGTCATGCAAGAAGCTTTTTATTTTGTTCCCAAGCAGAGAGCGACAGATGAAACGTGGACCATGTTCACCTGACCTGTGTGAAGTGCAGATTTACCGAGCGCCAGACGAATACGTAACTGACTATTCCCCTACCTGCCCACACTATTTCCACTTTAGCAAATGCTAGGATTCGGGGCTTATTATGGGGCTTAACTCTCCCTCTGTAGAGTGATGAGATCTCACTTTGTCCTCATCCCCCAGACTCTCCCTCTCCCGTGTCAGCTGGGAATCTACGCCTGCTGGAGGGGGATTTGCGAACTTTGCCCGCGTGCGTGGTGAAACACCCAACGCCACCCGGCCCCCGGAGACCGGGGTCGGGGGGAGCTGTGCTTCTCCTATGCCGGGTTTCGGGCCTTCCCTCCCCACTGGGTGAACAGTCTTGGGCAGGTGTAGGAACCCCCAAAGTGCTCACGACAAAACCCTAGGCGGTCAGTTCTTACCTTGTAGTGCGCCAGCTGGAGGGCCAGCTGCACAAAGGCGTCTGGGCTCGTGCGACATTTCTTGATGATTCCTTTACCAAAGGCTACGAATGGGAAGGAATGGAAATCCACGTCGTTTGCCAGAAGATTTGCGGTGTTCAGGGAGGTCTATAACCTCTTGACACTTGAGAGAAAGAAGAAAAAGGTTTTACGGAACGAGGGGAGAAAAGTACTGACGCACACCCAGAAGGAAATTGGAGGCTGGTTTTTAGTGCAGCTATAAACTCGGTACTGGGAAGTACACAAACGTTTTCCTGACCCAGAAGCCCTAGTAAGTTAGGGGCATGGCTCCCTGACCCCGGAGGAGCAGCTGCAATGTTATAGCAGGTAGCGGGTCTGACATGAGCAGGCCAGGAGAGGGCTTCCTCCGACACACACTGGGAATATCACGCGACCATCAGTGATGGTCAGGTGGTTGTGAACTGTCTCTCTAAAATAATAATAGGTCACAGCCGGTGCCAGGGAAAGGCAGTCTCTCAGTAGATAGAAATGGAGCTGGTGACCAGCAGCTTCCCGATAAGATCTCAAGCGTTGGGCGAGTGGGCTGAAGCATGCGCACTGAGAGGCAAAATGGCGGCGTCTAACTGGACTATGAGCTTCCTCCAGCAGTGCTAGACAGGCAAGGGCAGAACACCTCAAGTGAGCATGCGCACAACTCCAGTAAACATACTGCGCATGCTCCCTTCCCAAGCGCTGGAGCCACTGTGCATGCGGACAGCCCACAACAAGGGAGGAATTGGGAGAAGTAACACAAGACCCTGGACGCATGCCAATGTATAAAACCTCAAGTCAAGAGGTCAAACCTCGCACTTAATCTCCCAAGTTGGCCGCTTGGCCCTCTTCCAAATGTACTTTCCTTCCTTTCGTTCCTAAAGTTTTTAAAATAAACTTTCCCGCTTTTAAACTTGGTCTCTCCTGCCTTCTGCCCCACAGTCAAATTCGTTCTGAGAAGGCAAGAATTGAGGTTGCTGCAGACCCGTACAGATATGTTCTGACGCTAACAGGAACATGGGTAGGGGACGGGGGCACCCTGGCTTCCAGTGAGACCCCAAAGGGTGTTTCAAATAGTCACACGTCATCTTATGATGACGTCATCACACAGTGGCAATCAAGAAACACATTTTTTTACTTTTTATTATTAATTTTTATTTATTTGAGATAGGGTGTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCGCTGCTCACTGCACCTTCTGCCTCCCTGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCACTTACCACTATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTGGCAGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAAGCAGGAGAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGTGCGAGACTACATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGGTATCTTGGACTCCAGGGAATTTCTCCTTGGATTAAGTGAACTAGGATTTGGTATTTGCAACCCTAAAATTCCTTCCCAAAAGGGCTCCTGTGAATGGGCTGCCTCTGAGCATGTTTAAGAGGTGCCAAAATGAATTAAACTTTGAGAAGTATAAATGAGCAATTTAGAGGCTTTCAGCTCTAACCTATGTGATTTTGGCTTTTAGTTTTTGATTATGAGCATTCTGTAGATGTCTAGTTAAGTTTAAGCTGGAAATAGCGCTGACAGTCTTAGCCAGGAGCTTCAAACAGAAGAAGAAATATTTACCGAGGCTTCCGAGGCAACAGGAGCTGTGACAGCCCCGCAGACCCACGGAACTCCCTGAGCAAACAACTTTCAGCCTCAGTGGTCTTCAACTGAGCTCATGATAGGGCAGGAACTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTACTTCCCCCGGGATGTCCCACTGCAGCCTGGTGGGGTACGGAATGTTCGGATTGATGTCGCCTTTGCAGTGCCCATCCTCCGCATAGCCCAGCTGGAGGCTGTCAATGGACATGACGTACTGTCAAAAATAGAACAAAATTATTNN | pathogenic | 179,947 |
Is the genetic mutation found on chromosome 11 at position 68775317, within the gene CPT1A (carnitine palmitoyltransferase 1A), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Carnitine_palmitoyl_transferase_1A_deficiency'] | TAGTGCGCCAGCTGGAGGGCCAGCTGCACAAAGGCGTCTGGGCTCGTGCGACATTTCTTGATGATTCCTTTACCAAAGGCTACGAATGGGAAGGAATGGAAATCCACGTCGTTTGCCAGAAGATTTGCGGTGTTCAGGGAGGTCTCTATAACCTCTTGACACTTGAGAGAAAGAAGAAAAAGGTTTTACGGAACGAGGGGAGAAAAGTACTGACGCACACCCAGAAGGAAATTGGAGGCTGGTTTTTAGTGCAGCTATAAACTCGGTACTGGGAAGTACACAAACGTTTTCCTGACCCAGAAGCCCTAGTAAGTTAGGGGCATGGCTCCCTGACCCCGGAGGAGCAGCTGCAATGTTATAGCAGGTAGCGGGTCTGACATGAGCAGGCCAGGAGAGGGCTTCCTCCGACACACACTGGGAATATCACGCGACCATCAGTGATGGTCAGGTGGTTGTGAACTGTCTCTCTAAAATAATAATAGGTCACAGCCGGTGCCAGGGAAAGGCAGTCTCTCAGTAGATAGAAATGGAGCTGGTGACCAGCAGCTTCCCGATAAGATCTCAAGCGTTGGGCGAGTGGGCTGAAGCATGCGCACTGAGAGGCAAAATGGCGGCGTCTAACTGGACTATGAGCTTCCTCCAGCAGTGCTAGACAGGCAAGGGCAGAACACCTCAAGTGAGCATGCGCACAACTCCAGTAAACATACTGCGCATGCTCCCTTCCCAAGCGCTGGAGCCACTGTGCATGCGGACAGCCCACAACAAGGGAGGAATTGGGAGAAGTAACACAAGACCCTGGACGCATGCCAATGTATAAAACCTCAAGTCAAGAGGTCAAACCTCGCACTTAATCTCCCAAGTTGGCCGCTTGGCCCTCTTCCAAATGTACTTTCCTTCCTTTCGTTCCTAAAGTTTTTAAAATAAACTTTCCCGCTTTTAAACTTGGTCTCTCCTGCCTTCTGCCCCACAGTCAAATTCGTTCTGAGAAGGCAAGAATTGAGGTTGCTGCAGACCCGTACAGATATGTTCTGACGCTAACAGGAACATGGGTAGGGGACGGGGGCACCCTGGCTTCCAGTGAGACCCCAAAGGGTGTTTCAAATAGTCACACGTCATCTTATGATGACGTCATCACACAGTGGCAATCAAGAAACACATTTTTTTACTTTTTATTATTAATTTTTATTTATTTGAGATAGGGTGTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCGCTGCTCACTGCACCTTCTGCCTCCCTGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCACTTACCACTATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTGGCAGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAAGCAGGAGAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGTGCGAGACTACATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGGTATCTTGGACTCCAGGGAATTTCTCCTTGGATTAAGTGAACTAGGATTTGGTATTTGCAACCCTAAAATTCCTTCCCAAAAGGGCTCCTGTGAATGGGCTGCCTCTGAGCATGTTTAAGAGGTGCCAAAATGAATTAAACTTTGAGAAGTATAAATGAGCAATTTAGAGGCTTTCAGCTCTAACCTATGTGATTTTGGCTTTTAGTTTTTGATTATGAGCATTCTGTAGATGTCTAGTTAAGTTTAAGCTGGAAATAGCGCTGACAGTCTTAGCCAGGAGCTTCAAACAGAAGAAGAAATATTTACCGAGGCTTCCGAGGCAACAGGAGCTGTGACAGCCCCGCAGACCCACGGAACTCCCTGAGCAAACAACTTTCAGCCTCAGTGGTCTTCAACTGAGCTCATGATAGGGCAGGAACTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTACTTCCCCCGGGATGTCCCACTGCAGCCTGGTGGGGTACGGAATGTTCGGATTGATGTCGCCTTTGCAGTGCCCATCCTCCGCATAGCCCAGCTGGAGGCTGTCAATGGACATGACGTACTGTCAAAAATAGAACAAAATTATTAAAACTAACAGTGGTACATAAAACACATTAACCTCCAACATGAAGAGAGGGTTGTTCTTTGCAGAGATGTTACAAAGTTTGAATCACAGCTGTTAAGGCTTCCAGTATGCTCAGCACCTAATGAGGTGGATCTGATCTCCATGTCAGATGTGACAGAGAGAGGACAGACGAGGGCTAAGGGCTTGCTCAAGTTTGTGACGCTCTCCTTTCACTGGCAAGTAAACCTAAGCCAATTTATTCAACGGTGTTTATTGGGCACCTACTATGGGTTGGAACCACTGTAGCATCAGCGGCATCCAAGCCCTGGTGACAGCGCAGACAAGAACTGTGTTTTGTGAACAAAACAGACAAGAATTCTTGCCCTTCCTTAAAAAGTGAAATATACCTGTATGACCCAGCAGTTCCACTCCTAGGTACATACTCACTGAAATGAAATGAATAGATGCTCACACAAAAACTTGTACAGAATGTTCAGAGCAGCATTATTCATAATAGCCAAAGAGTGGAAACAACACAAATGCCCATCAACTGATGAAGAGATAAACAAAGTGTGGTCAATCCATACAATGAGATATTATCCAGCCCTAGAAAGGAATGAATTCCAGGTATGTGTTACAACGTACTGAACCTTGAAAACATTATGCTGAGTGAAAAGAAGCAGGCAGGCGCGGTGCCTCACTTCAGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTGGAGGCCAGGAGTTCCAAACCAGCTGGGCAACATAGTGAGATCTTATCTCTACAAGAAATTTTAAAAATTAGCCAGGTGTGGTGGCACATGGCTGTAGTCCCAGTTACTGAGGAGGCTGAGGTGGGAAGATCACCTGAGCCCAGGAGGTCATGGTTTCAATGAGTCATGACTGTGCCACTGCACTCCAGCCTGAGCGACAGAGCAAGACCCTGTCTCTAGAAAAGAAAGAAAAGAAAGCGAAAGAAAAGAAAAAAGAAGCCAGACATAGAAGACCACATATTGTATGATTCTATCTATATAAGATGTCCAAAATAGGCACATACATACACACAGAAAGATTAGTGGTCATCAGGAACCTGGGGGAGAAAGGAATGAGGGATTTCTTTTGGAGGTGATAAAAATAGTACAGAATTAGGCTGGGCTCTGTGACTCACGACTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTTAGGTCAGGAGTTCGAGACCAAGCTGGCCAACAAGGGGAAACCCCGCCTCTACCAAAAATACAAAAATTAGGTGGGTGTGGCGATGCACGCCTGTAATCCCAGCTACTCGGGAGGCTAAGCAGTGACTGTTGCACAAGCACCTCGTGAATATACTAAAAACCACTGAATTGTACACTTTTAAAGGGTGGATTTTAAGGTATGTGACTTATATCTCAACTAAAAAAATTAAGTTTTTTTAAAAGAGGAATCCCTGTGCTCAGGAAGCTTACATTCTAGTGAGGGAGGTAAAAACAACAACACAAGGTCGGGGTGACTGTCGGCTGGCGAGGCGGCGGGGCGGGTGGAAGGTGCCGCTAATACGTGGGGGTCACAATCCAGGCTGACCTGAGCCAGCGAACGAACAGACTTGATCAGGTTCCACCTGCTCTGGGTCAGAGCTCCAGAAGAGCCTGACACAGAAACATCAGAAATAAATCAAGAGCAAGACCGGGTGTGGTGGCTCATGTTAGTAATCCCAGCATGTTGGGAGGCTGAGGCAGGCAGATTGTTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAATGTGGCAAAACCCCGTCTCTACAAAAAATACAAAAATCAGCTGGGCGTGGTGGCGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAAAATTACTTGAACCCAGGAGTTGGA | TAGTGCGCCAGCTGGAGGGCCAGCTGCACAAAGGCGTCTGGGCTCGTGCGACATTTCTTGATGATTCCTTTACCAAAGGCTACGAATGGGAAGGAATGGAAATCCACGTCGTTTGCCAGAAGATTTGCGGTGTTCAGGGAGGTCTCTATAACCTCTTGACACTTGAGAGAAAGAAGAAAAAGGTTTTACGGAACGAGGGGAGAAAAGTACTGACGCACACCCAGAAGGAAATTGGAGGCTGGTTTTTAGTGCAGCTATAAACTCGGTACTGGGAAGTACACAAACGTTTTCCTGACCCAGAAGCCCTAGTAAGTTAGGGGCATGGCTCCCTGACCCCGGAGGAGCAGCTGCAATGTTATAGCAGGTAGCGGGTCTGACATGAGCAGGCCAGGAGAGGGCTTCCTCCGACACACACTGGGAATATCACGCGACCATCAGTGATGGTCAGGTGGTTGTGAACTGTCTCTCTAAAATAATAATAGGTCACAGCCGGTGCCAGGGAAAGGCAGTCTCTCAGTAGATAGAAATGGAGCTGGTGACCAGCAGCTTCCCGATAAGATCTCAAGCGTTGGGCGAGTGGGCTGAAGCATGCGCACTGAGAGGCAAAATGGCGGCGTCTAACTGGACTATGAGCTTCCTCCAGCAGTGCTAGACAGGCAAGGGCAGAACACCTCAAGTGAGCATGCGCACAACTCCAGTAAACATACTGCGCATGCTCCCTTCCCAAGCGCTGGAGCCACTGTGCATGCGGACAGCCCACAACAAGGGAGGAATTGGGAGAAGTAACACAAGACCCTGGACGCATGCCAATGTATAAAACCTCAAGTCAAGAGGTCAAACCTCGCACTTAATCTCCCAAGTTGGCCGCTTGGCCCTCTTCCAAATGTACTTTCCTTCCTTTCGTTCCTAAAGTTTTTAAAATAAACTTTCCCGCTTTTAAACTTGGTCTCTCCTGCCTTCTGCCCCACAGTCAAATTCGTTCTGAGAAGGCAAGAATTGAGGTTGCTGCAGACCCGTACAGATATGTTCTGACGCTAACAGGAACATGGGTAGGGGACGGGGGCACCCTGGCTTCCAGTGAGACCCCAAAGGGTGTTTCAAATAGTCACACGTCATCTTATGATGACGTCATCACACAGTGGCAATCAAGAAACACATTTTTTTACTTTTTATTATTAATTTTTATTTATTTGAGATAGGGTGTCCCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCGCTGCTCACTGCACCTTCTGCCTCCCTGGTTCAAGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCACTTACCACTATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGGTGGCAGGCACCTGTAATCCTAGCTACTTGGGAGGCTGAAGCAGGAGAATCGTTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGACAGTGCGAGACTACATCTCAAAAAAAAAAAAAAAAAAGAAAAAGAAAATGGTATCTTGGACTCCAGGGAATTTCTCCTTGGATTAAGTGAACTAGGATTTGGTATTTGCAACCCTAAAATTCCTTCCCAAAAGGGCTCCTGTGAATGGGCTGCCTCTGAGCATGTTTAAGAGGTGCCAAAATGAATTAAACTTTGAGAAGTATAAATGAGCAATTTAGAGGCTTTCAGCTCTAACCTATGTGATTTTGGCTTTTAGTTTTTGATTATGAGCATTCTGTAGATGTCTAGTTAAGTTTAAGCTGGAAATAGCGCTGACAGTCTTAGCCAGGAGCTTCAAACAGAAGAAGAAATATTTACCGAGGCTTCCGAGGCAACAGGAGCTGTGACAGCCCCGCAGACCCACGGAACTCCCTGAGCAAACAACTTTCAGCCTCAGTGGTCTTCAACTGAGCTCATGATAGGGCAGGAACTACGGTTGGAAAATTCATCTGTAAGACTTCAAATGTGTTTCCCATCCCAGGTAAGTAACAATGGTTGGATAATCCGGACTTACTTCCCCCCGGGATGTCCCACTGCAGCCTGGTGGGGTACGGAATGTTCGGATTGATGTCGCCTTTGCAGTGCCCATCCTCCGCATAGCCCAGCTGGAGGCTGTCAATGGACATGACGTACTGTCAAAAATAGAACAAAATTATTAAAACTAACAGTGGTACATAAAACACATTAACCTCCAACATGAAGAGAGGGTTGTTCTTTGCAGAGATGTTACAAAGTTTGAATCACAGCTGTTAAGGCTTCCAGTATGCTCAGCACCTAATGAGGTGGATCTGATCTCCATGTCAGATGTGACAGAGAGAGGACAGACGAGGGCTAAGGGCTTGCTCAAGTTTGTGACGCTCTCCTTTCACTGGCAAGTAAACCTAAGCCAATTTATTCAACGGTGTTTATTGGGCACCTACTATGGGTTGGAACCACTGTAGCATCAGCGGCATCCAAGCCCTGGTGACAGCGCAGACAAGAACTGTGTTTTGTGAACAAAACAGACAAGAATTCTTGCCCTTCCTTAAAAAGTGAAATATACCTGTATGACCCAGCAGTTCCACTCCTAGGTACATACTCACTGAAATGAAATGAATAGATGCTCACACAAAAACTTGTACAGAATGTTCAGAGCAGCATTATTCATAATAGCCAAAGAGTGGAAACAACACAAATGCCCATCAACTGATGAAGAGATAAACAAAGTGTGGTCAATCCATACAATGAGATATTATCCAGCCCTAGAAAGGAATGAATTCCAGGTATGTGTTACAACGTACTGAACCTTGAAAACATTATGCTGAGTGAAAAGAAGCAGGCAGGCGCGGTGCCTCACTTCAGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATTGCTGGAGGCCAGGAGTTCCAAACCAGCTGGGCAACATAGTGAGATCTTATCTCTACAAGAAATTTTAAAAATTAGCCAGGTGTGGTGGCACATGGCTGTAGTCCCAGTTACTGAGGAGGCTGAGGTGGGAAGATCACCTGAGCCCAGGAGGTCATGGTTTCAATGAGTCATGACTGTGCCACTGCACTCCAGCCTGAGCGACAGAGCAAGACCCTGTCTCTAGAAAAGAAAGAAAAGAAAGCGAAAGAAAAGAAAAAAGAAGCCAGACATAGAAGACCACATATTGTATGATTCTATCTATATAAGATGTCCAAAATAGGCACATACATACACACAGAAAGATTAGTGGTCATCAGGAACCTGGGGGAGAAAGGAATGAGGGATTTCTTTTGGAGGTGATAAAAATAGTACAGAATTAGGCTGGGCTCTGTGACTCACGACTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTAGATCACTTTAGGTCAGGAGTTCGAGACCAAGCTGGCCAACAAGGGGAAACCCCGCCTCTACCAAAAATACAAAAATTAGGTGGGTGTGGCGATGCACGCCTGTAATCCCAGCTACTCGGGAGGCTAAGCAGTGACTGTTGCACAAGCACCTCGTGAATATACTAAAAACCACTGAATTGTACACTTTTAAAGGGTGGATTTTAAGGTATGTGACTTATATCTCAACTAAAAAAATTAAGTTTTTTTAAAAGAGGAATCCCTGTGCTCAGGAAGCTTACATTCTAGTGAGGGAGGTAAAAACAACAACACAAGGTCGGGGTGACTGTCGGCTGGCGAGGCGGCGGGGCGGGTGGAAGGTGCCGCTAATACGTGGGGGTCACAATCCAGGCTGACCTGAGCCAGCGAACGAACAGACTTGATCAGGTTCCACCTGCTCTGGGTCAGAGCTCCAGAAGAGCCTGACACAGAAACATCAGAAATAAATCAAGAGCAAGACCGGGTGTGGTGGCTCATGTTAGTAATCCCAGCATGTTGGGAGGCTGAGGCAGGCAGATTGTTTGAAGCCAGGAGTTCGAGACCAGCCTGGGCAATGTGGCAAAACCCCGTCTCTACAAAAAATACAAAAATCAGCTGGGCGTGGTGGCGCACACCTGTGGTCCCAGCTACTCGGGAGGCTGAGGTGGGAAAATTACTTGAACCCAGGAGTTGG | pathogenic | 179,952 |
Subsets and Splits
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