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 |
|---|---|---|---|---|---|
The mutation in gene DYSF (dysferlin) at chromosome 2, position 71668823—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1'] | GTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCG | GTGTGGCTTCTCTGTGCCTCAGATTTCTCTTCTATAAAATGGGGATAATAACAGCACTCAGCTTCTAGGATCCTCATGAAGACTAAATATGTTAATAGCTTGAAGAACAGTGTGTGGCACGTGGTTCCTGCTCTGGAAGTGTTTGCTGTTATTGCTATTATTTTAGCTACTGCTAATAGTAGAACAACTTAAGTGAACGAGAGCATAATACTAACAGCACTAAGATGCCAAATCTAGGAGTAAAGGTTGCTGAGGCTTAGAGTTGGGAGCAGTCAGGGAGAGCTTCCTGGAAGAAGTAGGCTTTGGAGACAGGAGGATTTGTATGGTGGAAAATAGGAATAAAAACTATAGAACAGGCTTGGTAGAAATGATGGCAATGGGGAATCTGGATTTTAAGCCTGGAGCTAGTGGACAGCAAGATTTCCCCTATCAAAAGTGAGACATGAGGACCAGAAAAAGTGCATCTGTGCTGGGGGTGAGGCTGCGGGGGTTAGAGCTTCTTATGACTCTTAGGCAGCCCTGCTCAGCCTGTTCACTGGGCAGCCCCATTATCTCTCGCTTCCCCAGCTCCTGCAACTTTTTTGTCTTCTCTCTGGGGCAGAGGCTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGTAGGACCTTGACCCTTGGGTCCCAGAGTCCTCGAACTCCAGAAAGCCCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCC | pathogenic | 39,040 |
Variant at chromosome position 71669611, chromosome 2, gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAG | CCCAACCCCAGGGACAACATGGATATCCCAGAGGAGCCAGTGGGTCCCTTGAGATTTGGTCAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGTTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGN | pathogenic | 39,053 |
Determine whether the variant at chromosome 2, position 71669671, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGG | CAATCCTTCCTTGACCCATTTCTTCACAGTCTGAGTGCGGCCATGGTTGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGN | pathogenic | 39,055 |
Does the variant on chromosome 2 at location 71669718 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Miyoshi_muscular_dystrophy_1'] | TGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAAT | TGGCCTGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAATN | pathogenic | 39,057 |
Chromosome 2, position 71669723, gene DYSF (dysferlin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Qualitative_or_quantitative_defects_of_dysferlin'] | TGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAATTTGGG | TGGGAGGGGATCTTTAGGTCCTGGCTTCCTCTGGCTGCCTCCATCCCTCAGGGCCTGCGAAACGAGGCTGAGCTTCTCCCCTCACCCCTGTAGGCCTGGCCTCCGACCTCTCCTTGTCATCCTGAAGCCTCTCTGTTTCAGCCTGACTTCAGGTTGGATTCCCCCATCCAACCACTATCTGTCAGTGACTCAGTCTCAGATGCCCGGCCCTGTGCTGGGTGGCTGTGGGGTATGCAGCCAGGGTGGCCCTGGCATCCTATGACCAAATGACAAAGCCACCCACAGAGAGCAGTCCTCAGTGGGAGGGGAATCCTCCCACGCTGAAGGGCGGGGACCACAGAGACAGCAGCCTTGGGATGGTGACAGGGAGGGCTTCCTGGAAGAGGTGAGCTCAGAGCTGGGTTTTGGAAGAGGAGAAGGGGAGACAAGGTTATAGGCAAAGAGAAAGGCCAAAGTGAGCCATGAGGATGCCTTTGTGAATGCCAGAGGACATTACCTCTGTTGTTTGGAACTGAGCTCTCTCTCCACCTAGGTGGTTTGGCTACCGGCCTCCCCAAAGTGGCACAACAGGTGTGGAAACTTCAGCTCTTTCATCTTCTAGTTCTGTGACCCTGCAGAAGTGACTTAATTGAATTACTTCAATTCCTGCTCCTTCTGCTCTAAGATGAGACAAATTCACACCTCGCTTGCAGAGAGGGAGGAGGATAAGGGGTGGGCAGGGAGAGTGATGTCCTGCCATGGAAGCCTTCTGAGCCCTCCATAACTGAACGGTGCTCTTTGACACGCCACGACTGTGCACATGCCATTCCCCTGGCTGCCAAGACTCAGCTCAGCCACCACCATCTCTGAGAAGCCCACCCTGACCCTTGACCCCCAGGCACAGGCCCAAGTCAGAGGCCTGTGGGGCAGTGGTCACCTCTGCGGTTGACCCTGTAGTCCCCTGTTTAGGGCAGTGAGGCTTTCTCTGGAAGGGCCTGGGTTTCTCTGTTCTGTGCCCTCAGCATCTGGCCCAGAGCAGGTGCTTGGTAACAGCTGGTTAAATGAGAAGGGTGGGGAGAGAACGGACCCTGTCTCCGCAGGGGAAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCCCACGGAGAGCCAGAAGGTGACTTGCCCAGCCACAGGCTCTGAGCTGGGCTGAGGGGTGGGGGCGTTGCAGCCTGCTGTGGGCGGGACTAGGCGGTTGCTCTTTTCTGCCGGGCTTCAGGCTATTTGGGCCATGGAATACAGTTCTCGTTTGGGCCTGGGCCAGTGTCCAGCCAGGCAGGCATCGAGTCCTCTTGGACCAGTCTGCTTCTTGGCTTCTTGGCTTCTTAAGGCCTTCCCATCCTTTGGTAGGAAATCTAGGTGGATTAGAGTGATACCTTTCCCCAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGGTAGGGAGCCAGCGTCCTCTTGCCTGTCCAGCTTCCCGCAGCTCCCGTGCTCCCTCTGGGTTGTGCACAGCACGGGGGGCTCTGGCTCAGGGAAGGGAAGAACAAACAAACTTCCAACGAGGGCTCCTGGGGGTGGTCCCTGCCTTTGGGGAAATCGCTCTCCCACCAGATTTCTTTTTCTGCACTGAACTTTGGGTTGAACTTACAAGTTTAGTGGCTGGGAAGTTAGAATGTTTTCAAATTTATGGCACATTTTGTACATCGTGCCGATTTCCTGGGAATTCTTTTTGCGATAAGCTCATTTACCTTCTTAACTCCTTGTCTGCCTAAGTTGACGATGTATATACTGTGTTGGAAATCTTAATGAGAACTATTCTCTAAAAACATGTATGTCTAGTTGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAGTCTGTACCATTGCCAAGAAGGTCAGTGTCCTTCCGATTCCCTGTGGTGCCAGCACCAGGGCTTCTAAAGTTAGCCTGACCTGACCACCACGTCCCTGCCTGGCAACTGTCACAATCTCACTGCTGCCCCACCATGTTGGAGCTACCACTGCCATCTCCACATGGCCACCACCTCCACTGTCCCAGCACTGCCAGTGTCACCACCACTGCTGTCTCAGCATTGTGTGATGGCCTCTGTCCCATCACAGCCAATGTCACCGTGGCTGCTGTTCCATCACTACTGGTGTTATCACAACTGTTGCCTCCTCACTGCCAAATGTCACCACCACTGTTCTGTCATTCATGGCACTACCGTGGTCCCACCCCTGCTGTCATTACCCCCAAAGCCACCTCCACCATCTCTGCATCCACCCCTTTTCCACTCTCTTCCACCATCTTTCCCATCCCCAGCCCTGCCGCCACCCCATGGCCACCTCATGATCACACAGTGCCATATCCATCATTTGCAGCTAAATCCAGATCCCAAAGTCACTGCCTCCCTCCCTACCTCAGACAAGTTAAGCAGCAGGAAGGACCATGGGGTCTGAGTGGGTAGAGTAGGGACACCCAGCATGGCCTTCAAAAGGGCAGTGGGGCAGACCCCATGGGGGAGCTTCCCAAGAAGGCCAGTCTGGCCTATAGATCATGGTGTCCACAGGATTGGGAGTTGCTTGGCTAAGTCTTTCTCATATCCCATTTTCCACATCTGTGCCTATGGTCACCGTCCAAGCTAGGTCACAGTCCAAGTGTGCCTGCAAGGCCCACAGCCATCACCCTCCTCTCTCCACTCCCACCTCTCACTACAGGCCAAAGGCACCTAGGGAGACCTGGCTTGCATCAGCCAGAGGGGAGGCTGGATTTGGGGACCTCGGTCTCTGTGTCTCAGCATCTGCTAGTTTAGGTCTCATCTGGGGCGTCAACTTTTTACCCCTGAACTAGGCAGAACTCGAGGACAGCCAGCCTCTTCCTGGTAGGACCAGGCCTGCCCTCAGAGAGCAGCCCCCAGAGCACAGAATGGGTGCTGAGGGCAGTGGAGACTTCAGGGCTATGCTGGTTGGAGGCAGAGGGGTCTCTGCTGTAGCTTCTGGCCATCCTTGTCCCACCCGGCATTAAATTCCACCCTGAGGTGCTCTCCAACTCAAGGGGGTAAATGCCTCTCTGGCATCTAGATTCTGCTGGCCCGATTTCCTTCCAGAGGTGGCTCAAGGCTTTAAGCCTCAAAGCTCCTATGACTCCTTGTCTCCTGAAAGGAAGGGGATATATGACGCGTTCCAGTGCCTGCATTTTCTTGATTCTCTTCATTACATCCCCTCTGCATGGCCCTTCCCAGCCTAACATGCAGGATCATCTGCACATTAGAGAAAGCAAAATGTTCCGCGGAACATTCTGAAACCATGAAACAAAAGAAAACATGGATTCAACAGGGTTAAGTGGATCCCTTTACCGAGCCATTGCTGTGGAGTGACTGGCAGAAAGCAGAATTGAGCAACAGGGTTCTGGGAGGTCAAGGAAAGCATGGGCCGTTTGCAGGTTGAGCCTCATTTGCTGCTGTTCAGTGTGCTTCCCTGACATGAGCCTGTTTCCATCAGAAAGCCAAGGTTGCATCTGCCCCAAGACACAGCACTGCCCCAGCCAGCTCTGCTGCAGACAGAGGGAGAGGGGGCCTGGGAGTGGAGAGGGAGGGCTGCGCCCCCCGTGGCACCCCCAGGGCTCACCTACAAGGGCTGGAGACTGAGACCGAGAGGAATGGGAGGTGGGACAGCCCCTTCCTCATGACAGGTGGAGATGTGGATTAGGAGTGGCTGTTTTGTCTCTGAAGTAAGAGGAGAGATGATCTGGTACTGGGGCAGGTGACTTGAGACCAGTGGAAAAGGCTGGAAAGAGCTGCTATGAGTGACAGTGAGGGAGGGACACAGAGAGATGGGGAGGGAATGTGACTGGCAGCACAGAGAGGGTTACCCGGCAGTTCTGGGGACCCAGTTGTGGTTGCTGATTAAGAATTTGGGN | pathogenic | 39,059 |
A genetic variant on chromosome 2, position 71674223, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | TGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGT | TGGCTCGGCCGAAGGCGGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGTNN | pathogenic | 39,065 |
Regarding the variant at chromosome 2 and position 71674239, affecting gene DYSF (dysferlin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGTGCCCTGTTTGTACAGG | GGAGACAGAAACTGGCTTGGCCGAAGGCAGAGCCAGAGGGTCCCTCTTGGAGTGAAGGGACCCTGGGAGGCAGGCAGAGCAGTGGCCACAGTGGGGCACCAGTTAGCTGGGTTGGGCTGAAGGATCGAGTCTGGATGGGTTCGTGCAGGGGCACTGCACAGCCTCTGGGCTCCCTGGGCCTGCCACGGAGCCAGCCCTCTGCCGTGGGGTTCAGGGCCTCTGGCAGGCAGGCCCTCCAGGGACCCCATTAACCAGACGAGACTGTCGTAAAGTACAAGGTCTCCTTTCATCCGGCGGCTTTGAACCACCACTGGTTGCCCCGGCCAGGCTCCCCACCTGGAGCCCAGCACACCCTGCACGTCAGGCACCCACCCTGCAAATAAACAGCTAGTAAAAGCGCCCAGGCCAGGAGCATAATGAGCGCCTGGGACCTGGGGGGGTTCATTCCCCAGGCTGGAGCCCCAGCCCAGCTGCTCCCACCAGGGGCCGTTTGAACCTCTGGCTCATTACCGAGCCCATAAACCAAGCTGGCCAGAGGAATGGAGGCTGCTGGCGGGCCATGCAGGCGGGCCTGCGGAGCTGGCCATAAAAGCTCGCCAGAGGAGGGAGGCACCTGCAGAAGGGCTGGGGCCCGGAAAAGGGGGGAGGCACCAGACAGAGGGCTGGAGGTGAGGGGCCAGCTGGAGACCTGAGCCCCTTCCCCAACCCAGGCAGCAGTCCAGGCCGTGGCTGGGTGCTTTGCACGGGGACTAGTCCTCACGGGGCAGGGGTCATGGTCTTCGGTTCGGGAGCTCACTGGGATTTCCGTGGCCAACCTCTGAGGCTGGGGTGGCCACACAGCAGGCCCTGGCTGGACAGCAAGGGTGGGTTTACCAGGCATTTGGTGGAGCTTTTCCCCTGCAGAGTTGGGTCCAGGCCCTTGCTCTGACCCGGCACTCAGGACTTGGCACCCACCATCTGCAGGGTGGTCACACTGTTTCCTGTCCTTGCCACTCACCCAGGGGAGAGTTATAGTGAGAAAACAGAGAACAAGACTGCGCTGGAAAGCCCTAGTGACAGTGCTGTGGGTTGAGTGTGGCTGGACTGAGGGGTGCTCCCCGGCCTCCGCATGTGCAGTCCCACACCGCTCAGTTGCTCCATGAAGCCTCAGTGGGAGGAAGCCCAAGATGACCTTGTTCCAGGCGAGCTGGTCTGAGGGAGGTGGGGTGGGGAGAGAAGGGCCCCTCCTCTCCTTTCAGCAGGAGACGGAACTTCCCAGCACTTCAGGCTTTGGCTTTGCCCTGGGTCAAGCTCTTGGAGTGAAGTTGGGTGGGGTGGAGAGGGAGGAGCTGGGGTCTAGATTCCAGTGCCAGCTCCTTACAGCAGCGTGCTGGGAGATCCTTCTATGACAGCCAGGGTAGGGTGGGGTCCCTCAGGGTCTCAGTTACCCCACCCTGACCCTGAGATGCCAGGTACAGAGCAAGGTTTAAGGTAGAGAGCAGGACTCTGGAACCCAGCTGCCAGGGTTTGAGTCCAGCTTGCCACTTCCTAGCTATGTGGTCTTGGACAAATTACTTGCTTTGGTCTCCTCCACTGTAAAGATAGTATCTCCTTTACAGGTGGTTGGAAGGATAAATGAGTTCATAGCAGTAGAGGGCCAACGCATAGGAAGCACTATATTAATGTTATTATTATTAGTGGTCAGACCTCAGGCACATTCCTTTAACTTCTCCAAGCCTCACCTTCATCATCTGTAAAATGGGAGTGATAACCTTGACTTACAGAGTTGGGAGGATTAATGGAGCCATCTTATGTGAACTGAGCCTGCACGGTGCCCTTTTGGGCCCTTGAACACTGCCTTCTGGGATCTGTCCTTCCCAGTCTTCCCACAGGACCTGGCTCTGGCAGGTCCCTTGGGGACATCCTACTCCTCTGCCTCCTCCAGGCAGCCTTCCAGGCTGGAAGGGAACACTGCCTCTCTCTAACCTTGCTTCCTTGCATCCTTCTCTGTTCCTCTTCCGGGTCAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATCCCAGCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTGGGTAAGCGCTATTGCTAGAATCCCATTCTGCACATGGGGGCTGCCCCAGAACCCACACTGTGTGTTTATGCCACTGTTGGACCCTTGGGGAAGCCTAGCAGGAGGAGTGATCCCACTTTCTGCTTTCAGGGAGCTCAGGGTCATGTGTCCCCAGTGTTAAGTGAGGTGTATGACACACAGCAGTGTCAGAGTGATTGGTGGCCACTGAGGGTGGGCCTGTCAGTAGAGGTGGCACTGAACACTGGGCCATGTTGGATGATGGGACTCAGATATGTAAGTAAGCGAGGGACGCAAGTGTGTGCTGCCTGTCGCCAGCTGTCTGGCCTCACATTTGACACAGACTGAGCCCTGTGAGTGAGGGTCTCAAGTCAGTCTTCATCCTTGTGCCTGTGTGACCGACTGAGTGAACAAACCCAGGCTCTATCCCCATTACCCCCAGACAGGGTTCTAGTGGGAAGGGCTGTGATGAAATCTGGGACTGGGGAGCAGGGAGGCTGGGTTGAATGGAAGGTGGTGATGGTGGCCTTGTAGGGTTAGGATATGGGGACAAGGAGGAAGACATTGTATGGGGCCTGCACGCTCATCTGTGAGAGCAGTGAGTTCAAGATAGCCCTGTCATGGCTATAAAGGTTAACTCTGGAAAATGTGGTCTATCCATACAATGGGAGAGTATTCAGCCATGAAAGCAATGAAATACTGATACATACTACACTGTAGGTGAACCTGAAAACATGCCAGGTGAAAGCAGCCAGACACAAAAGGTCAAATATTATATGGCTTCATGTATATGAAATGTCCATAATAGGCAAATCCATAGAGACGGAAAATAGGTTAGTGGTTGCTAGGGATTGGGGGAGGGGGGATGGGGAGTGACTGTGATGGGTAAGAGGTTTCTTTTTGCGGTGATGGAAAGGTTCTGGAATTAGATGGTGGTGAAGGTTGCACAACTCTGTGAATATACTCAAAGGCACTGATTTGTACACTTAAAGTGGTTAAAGTGGTGCATTTATGTGAGGTGGATTTTACCTTGATTAAAAAATAAAGCGAGCTTGTGAAAACGGCAACCCAGGAAGTCAGGATCCCTGGTTTCTAGATCCATTCTGCCACTTGGGAGCAGGGTGGCCTGGAGCCCTCTTGGGGTAGCCCTTGACTGGAGAAGGTGAGTCGTTCTTAGCTGAGCCCTGGGGCCCCTGCAGGGGATATTCTGAGGCGCGGCTTCCGGCAGTGGGGAGAAGGCTGCCTGTTCACTTGACTGTTCCCCCGCCCTGCGCACCTGGCCTGGCCAAATGCCCAGAGAACTTTGTTATAAAAGCATCAGGTGCAAAAAGCGTGGCACCAAGTTTGACTTCTATTATTTTACTTATTATTTTGTACATAATTCCTGTAGAGGAATTAGAAAATGCAGGTAAGGAATTAGAAAATGCAGGTAAGCAATGCTTCCTCCCCACCTTAATCTCACCACCCAATTTCTACTAACATTTTGGCATGTATTATTGTATTATATATTATTTGAGACTTAAACAAACATAAGTATTTTATATATGTATTTATATATACACATGTACATGCATACATATATAATATATACATATATTCATATGTATATGAATGGATTTCTATTACACAGACTGTTTTATATCCTGATTTTTGAAAAACCTAATATTCCAAGAACATCCTTTCTGGTCAGTAGGTATCGATCTGCATTTATATCTCCATCATCACACTTAATGCCTGCCTATGTTTTGTCATAGACGTGGGCCCTGTTTTGATTAATCCTCTCCTGGTGGGTATTCAGGTCATCTCCAGGTTTCCCAATGTGAGTAACACCCTCGGCATATGCACATCCTTCGATCCTTTGTGCATATCTTTCCTTAACTCTGAGAAGTAGATATGTCTTTGTACATTTTAATGGCTTTTGAAACATTTTGTTCAGTTGCCCTCTAGAAAGGTTTTACTTGTTTATACTCCCACCTGTGCCCTGTTTGTACAGGNNNNNNNNNNNNNN | pathogenic | 39,066 |
Variant in DYSF (dysferlin), chromosome 2, position 71679123—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'DYSF-related_disorder', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | ATATACAGTTGAATAAGTGGACAGACAGGTGGAATAATAACCTGATTAATGGATAGATATAGTGCTTAACAAATGGTAGCTATAGAGGAATGTGGATAGTTAGGTCAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCA | ATATACAGTTGAATAAGTGGACAGACAGGTGGAATAATAACCTGATTAATGGATAGATATAGTGCTTAACAAATGGTAGCTATAGAGGAATGTGGATAGTTAGGTCAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCANNNN | pathogenic | 39,074 |
Determine whether the variant at chromosome 2, position 71679228, in gene DYSF (dysferlin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATG | CAAAGCAGACGCACAGATGGAAGGACGGATTGATAAATGGATGAGTGGAAAGAAAGAAAACTAGAAAAAGAGTTATATTTAATGTTCGGTTATAGTAACTATGCATTCTACACTGAAAAAAATTGAAACACCTTTGCATGGTGTTTGAGAATTTCTTTAATTTGGCTTCAGAAAATAATTTTTCTATTGATCTCTCTTAATCCCTTTGGCAACCTATGCTCCAATCCCATTGACTTTATCAGATTATGATTAGATTAGGCGAAACCACATGAAATTGCTGTTTAAATGGGTCAAAGATAGTTAAATACAAGAATTTTCATATGGTTCAACCTAATAGCTGAAGGTATCCTGGGAGATGATAGATAAAAGGGATGATTAGATAAAACAATAAAAAAAGATGGCTGCTTGGATAACTAGGTGGTAGATGAAAAAGACTGTTGGATGAACCACAGTGAGGTACCACTTCACACCTACTAAGATAATAGTAATAATAATAAACCAGAATATAGCAAGTGTTTTGAGGATGTGGAGAAATTGCTGGTGTGCTGGGACATTGGTGGTTTGAGTGTAAAATGATTCGGCTGCTGTGGAAAACTGTTTGGCAGTTCCTTGAAAAGCTGATCATAGAATTGCTAATGAACAAAGAATCCTACTCCAGGTGTGTGTGTACCCCAAAGAATTGAAAACAGGGACTCAGACATTTGTGTGCTAACGTTCACTGCAACATTATTCATAATATGAAGTTAAAAGATGGGAACACCTCAAGTGTCCATCAACAGATGAATGAATGAACAAAGTGTGGTACAGGTTAAATATAACTTATCTGAAATGCTTGGAACAGAAGTGTTTCAGATTTCTGATGCTTTTTGGATTTTGGAATAATTGCATATACTTAATAAGATATCTTTGGGATAGGACCCAAATCTAAATACAAAATTTTTTTCATATATACTTTGTAAGCATAGCCTGAAGGGAATTTTATAGAATATTTAAGATAATTTTATGCATGAAACAAAGTTTAAGTACGTATGTGTGGAGTTTTCCACTTGTAGCATTATGTTGGCAATCAGAAACTTTCAGACTTTGGAGCATTTCAAATTTCAGATTTTCAGATTATGCATGTTCAACCCGTATATGCCTAGAATGGAATCTTACTCAACCATAAAAAAAATACAGATTAAAAAAACACTACTGATATATACAACAAGGATGAACCCTGAAAACATTATGGAAATCAAAATAAGCCAGACACAAAAGAACAAATATTGTATGATTCCACTTATATGAAATATCTAGAATAGACAAATTCATAGAGACAGAAAGTAGACTAGAGGTTACTGGGGCGAAGGGGAGGGAGGAATGGGGAGTTATTGCTTAATGGGTGCAGAGTTTTTGTTTGGGGGATGGAAAAGTTTTAGAAATAGTAGTGATGGTTGTACAGCATTGTGGCTGTAATTAAAGCCACTGAATTGTACACTTAACATGGTTAAAATAACAAATTTCATGTTATATGTATTTTACCATGATAAAAATAATTAAAAAAAAATTGATGTATGGCTGTTTATAGACGGTGTATGAATGGATTTGTACATAGATGAGTAATTGAAGAGGTGGGTGGCTTTGTTAAGGGTGAGTAAATAGGAGTGGATGAACATGCATATGAACGCATGAGTAGATGAATGGGAAGCTGTATAGATGGAATGGGAGACAATGGGTAGGGAGGTGGAGAGTTCGTGAGATTTTACCTGTGGCTCGGCCATGGATAGAAGCTGGTGACAGAGGTGACTGAGTTTTTCCTGAACCTGCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATAACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGAT | pathogenic | 39,080 |
Is the genetic change at chromosome 2, position 71681032, within gene DYSF (dysferlin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B', 'Distal_myopathy_with_anterior_tibial_onset', 'Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTC | GCCCTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGT | pathogenic | 39,083 |
Does the variant on chromosome 2 at location 71681035 affecting gene DYSF (dysferlin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Miyoshi_muscular_dystrophy_1', 'Qualitative_or_quantitative_defects_of_dysferlin'] | CTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTCCCT | CTGCCTAAGGGTGGCTACAGGCTGGCAGTGATCGAGAAACCCTTGGCCAAAAACTACCTCTCTGTTGCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGA | pathogenic | 39,084 |
A genetic variant on chromosome 2, position 71681101, affects the gene DYSF (dysferlin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy', 'Qualitative_or_quantitative_defects_of_dysferlin'] | GCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTCCCTTTGTCTTAACAGCAGTTGCAAATCCAGAGGAAGGGAGGAGCTGGGGCTGGGAGAGCATCTCAGGGT | GCAGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGTAAGTCTACTTCCTCCAGCCCCAGTGGAGGGCATGGGGGAAGCTTCTTCCATAGAAATTGTCAGAAAATACGTCATCAGAAAATACATGCTTACTGTTCCTCCTCCTTTCTCCCCCTCTCCTGCCCCCATCCCCCCTCTCTCTCTATTTTCCAAGGCATTCTCCCTCTTTCCTCCCAATTCCCGGTCGCCTTCTCCTTTGCGGCTCACATCCCAGGGGAAGCCTATTTAAACCAAAAGATTACTCTGTTTATACTCTACTCATTGGCTTTAATAGTGACCTGTGTCCTGGGTTCCCTCTGATCTGGACTTCCTGGGTGAATGGGCGGGGGTCATGCCTCTCCCATTTGAGCAGGACCCTCCAAGGGACCATCCTTATTCTGCTCTCTGAGAGGTCTGCTTAGAGGGGTGACTGGAGGGCCCGAGAGAACCGTCCTTCCCCTGAGTCCACAGCAGCCATGGAGAGGAAGTTAATCCCTGAAAGTTTACTTAGAAATTTCAGGCAGCCAGCCAACCCTGAAAGTGGTCCTTGAAATTGAATATACTTGTTATATAAAGAGTGGTAACAATAAGAAATACTAGTACCCCAAAGGAAAAATGAGAAAACGACATGCATAGCTAATTCACAAAATAATTACCAATGTCTGCAAAGCATTTTTAAAAAGGTTTAGTCTCTCCAGTAATTAAATAAAGGGATACAGTAGTCCCCCCCTTATCTGGAGGAGATATGTTCCAAGACCCCCAGGGGATGCCTGAAACTACAGATAGTACTAAACCCGTATTATGTACTGTGTTTATTCCCATCTATACATATCTATGAGAAAGTTTAATTTCTAAATGAGGCACAGTAAGAGATTAACAACAATAACTAATAATAGAACAATTATAACAATATATTGTTATAAAAGTTAGGTGAATGTGGTCTTTCTCTCTGTGTGTCAAAATATCTTACTGTACTGCCCACGGGTAGCTGAAACCCTAGAAATCAAACCCAAAGATAAGGGAGGACTACTGTATTTTTAAATGTGTTTTTTTTGTCTGTTAAATTATATATATTTTTAAAACAGAAATGCTCATTGCTGCTGAGCATGCAGAGAGAAGACAGGCCCCCCTTTTACTTCTGCTGGGAGCACTAATGGTTTTACTGTGTGGAGGAAGAAATTTGATAACATATAGTAACAGATTTAACAATATTTATGCCCTCGGACTCTGTCATCCGACTTCTAAAATCCTTCTAAATAAATAACCCAATAAATTTTAAAAGTCTAGGTTCTGGGATATTTGTTGCAGCATTATTTACCCTATCAAAGAGTTGGAAACAACCTAAATGAACCAAAATAAGTAGTTTACTAAATAATTATGGTCAACCATCCCATACAATGTTTGGCAGTCATTAAAAACCGAACTTTAAAGAATAGACAACTACATAGTGAAATATATTCCGAAGTGAAAAAAGCCATCTATGGAACTGTATATGCACAGTGTGACATTTCATAAGCTTGCAGAGAAAATCAGCTATGATGCATGCAAATGTTAACAGTGCTTGTCTCCATGTAGTGGAAGTAGGGGTGGCAGTCTCCCTTCTTTATACATTTCTGAAGTTTCCAAATGTTTTACAAAGAGCAGGTGCTGCTTTTATGTTCAGAAACCCTACATCTTTTTTTTTAAATAATGAAGTGGCCCTTATGTTTTTTCTGGCCTGGTTACTCTCCAGGCCACTGAGCAGAGCCTTCGTGCCCCTAACCAAGTGCTCTCTGTCCCCTCAGGGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGACCCAAGGTCAGTGCCCAGCCCCTGAGCCCCAATGCCCACAGGTCTGGGGGTATAGGCCACAGTCCAGGAGGCATCCCATTGCATGGCCATGTAGAAGTCACAAAGCCCACGTGGCTCAGAGAGGGGCACGACTCATCCAAGGCCACACAGTAAGTTAGGGGGAAGGTGATGGGCATCTGTCCAGAGAACACTGGGCTCAGCGAATTCAAGATGCAGGTGCTATTGGGTACCTGTTGGTTGTGTGCCAAGCATGCTATCCTATGCATGTGTACATTGTGCTATGGAACCTTCCCTGCAGGGTAGTTGTTATTATCCCCATTTTACAGATGAGGAACAATCTCAGCAAAGTTAAATAAGGGCATTCCAGCTAGGACAGTGGTGAAGCAGAAATGCTCTCACCTGGTCTGATTGGCTCCAGAGCCCGATCAAGGTCTTGACCCTACCAAGCTGCCTTCGGTGGCTCTCCTATGGTGCCAGTGTGACTTTCAAATGGTTTTTCAGCCTTCATTTTTCCATCTGTGAAATGGGGAGCCCAATCCCTGTCTTCCCTACATCACAGACCTCTTGGGGAGATAGACCAAGCCAATGGATGTAGATGCTGTGAAGGCAGTTACAGGGGCAGAGTCACTGAAAGATGGCTGTGGGGGCTCAGGAATGTGTTTGCTGGATCCCGCCCCACCAGCCTACTTGGCTCAAGTTGGATTTAGCATAGATGGCTCAGTTAGTCACCATGCTGTGATTAGCACCGTGTGCCTGAGTGCCATGGGGCTGGCAGAGCAGTGAGAGGCACCCTTGCCTAAGGATGCTGGGATCTGCACAGGAAGAAAAGAGAGACCCGTGAGACACCAGTGTGCAATCTGATGTTAACGGGGCCATGATGGAGACCCAGAATCCTCCACGTATTTTGAGATGTGGAGCTGGCCTAGGGAAAGGTTTTGAGATTCTTGGTTGTGAGAGAACCAGCTTCCTATGTTCTCTTCCCACCGTTGTTCCCTGAGCATGGACTAGCCATGTGCATCTGGGCAGGTGTCTTGGCTTATCTGGGGCTCGGTGGGCTGGAGAGCACTTTGAAGCACTGCCCAGCTCCTAAATCTGCAGTTTGTGATTAAGTCCTGGGTCAGGAATGGGTGAGGGCACCAAGGAAGGTGTCCTGGAGAGGATGGCAGAGAAACTGGGCCACTGAGGATGCTTAGGGCTTGGCAGCACCCAGAAGAGGAGGGCAGCACAGGTGGGGGTGATACTGTAGCAAGGGCTTGGGGGAGAGGGAATGCAAGGTGCAAAGGGCTAGTTTAGGGACAGGGCCTGGGCAGGCGCTGGGGGTGGACTGTGGAGGGCCAGGCCATTGGACCTGCTGTTGAGAGAAGAGTTTGGAGAAAGCAGCCCTAGTAAAGGATGCCCAGTTGACCTCCGGGATCTCGCTTCCAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATCTTCATCTACGCCTTCCCGGTGAGCAGGCCTGACGACACTGTGGTGGGGGAACTCTGGGTCTAATGGGGGAGTTCATCATTGTCCTCAAAGAGCTCTCCCAGTCTAATGGAGAGAAGTAACCTCTGTCCTTGGAGAGCCCCTGGTCTGATGAGGATACAGAGCCCAGCTCTGGGGAGTCTCCAATCTGGTAGGTGTACAAAGTTCTACCCTTGGAGGCTCTTAGTCCAGTGAGAGAAACTGAGTTCTTGCCCTTCATGGTGAGACAAAGCTGTCCTCAGCAAGCCCCTAGAATTTGTAATGAAGGGGTTAGGAGAAGATGAGGCCCTTTGGGTTGCGGTGGGCAGGGGGACTTTCTGGAAGGGAGGTGTGGAACTGGGTCTGAAAGGAAGGTGAGATGTTGATGGCAGAGCAGAGAAGGTCCCTTTGTCTTAACAGCAGTTGCAAATCCAGAGGAAGGGAGGAGCTGGGGCTGGGAGAGCATCTCAGGGTN | pathogenic | 39,086 |
Gene mutation in DYSF (dysferlin) at chromosome 2, position 71686463—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic | GTTCAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCC | GTTCAGTTAGCCACAGAGACTCTAAGCACGTGTGTGCGTCTGGGAGGTAAGGGCGTGTTTTGGGGATGAGGGAGAAGAGGATGAGGCCTCATGCCACTGGGGAGTGCTCACTTCCCTGGGGAGACATTGAAACCAGAGAGTAAGGAAAAGTACTGTGGATGATCAAATGCTCTTTTGGGAGGCTCAGGCCGTGGGAGTTTAGGAAGAGAAGAGCTGCTGCAGACCCTCGCCCTTGGTGTAGTCGGAGGACTAGCAGCAGTAGCACCAGGGAACTCACTAGAAACTCAGAGTCCCCGGCCGGCCCCGGCCTGCTGAGGGGGAATCTGCATGTAGGCACATGATGGTTGGAGAAACCCTGTTGGATGTGACAGAGCTCTGTCGCTGGAGTCAGGATTATGGACTCTTCCTGTGACCTTGGCAAATCCCTCCTGCTCACATGAGGAAGGGGCTGCACTAGGTTAGCTCTGGCCTTCTGTGGCTGGGACTGTGCTTAGGGGAGCACTGTCATCTTCCCTGGCTGCTGTATATTAAGCCAAGCCTCCTTCTGAAAAGCCAAGGGGAGGGGAAAGGCAGGTCCAAAGTGGCATCACCACCACCCATGACATGCCTAAGCCCAGCCCCTGCCAGCTGCACCCTGCACTGCTAGGCTACTGGGCAGCAGATCTAGGCCTCCAGGGGCCTGGGGAAGGAGGCCCTGCTGCCTGGCTGGGAGAGGAAGGAAAGATTTCCAGTCACTTCCAGCCTGTGGTCCTTCCTCATCGCTGTGGGCAGAAGCAGAGTGGTACTGTGGGGGGCCTGGTCAGAGCTCCTCCCTGTCTCCTGTCCCCCCAGCAGCGGGCCACTCTCCTTTGAGTTCTTCTGGAAGTTGTCCTCTTTAAAATATGGACCCTGCTTCCCCTCTCCCAGGGCTGGTGTGGGGATGTCAGATCCTAGGTAAGGGGTCTAGGGATGAAGGGGGTGGCCTGGGCCTGAGGCTGCAGACTGGCTTTGCTCACAGGTCTTTGCTACAAGCTGAGCACATCCTGCCTCCTTCCACCCAAGTCACTCATTCATTTGGCCAGTACCAGATGATGAGGGCCGGGCCCTGGTGACCCTCACCTGGCTTTCAGGCCATGGGACAGAGGCTGCCTGCCCCAAGCCAGGGCCTAGTGGAGAGGGGCCCAAGGACAGGGCAGCTTCCTCCAGTTGGCCTAATCCCCTACCCTCTTGGAAATTCCCTTGGGAGGGGTATGAGGGGGCAGCCTGTCTGATTCCTCTCAGCTTCCCCCTCAGAGCCAGCCGGGAGCAGGGCCAGCGTGGGGAGGCAGGAGGCGTTTGGCGGGGAAGGAGGGCCGGCTCTGTTTCCAGAGTTGGCTTTCCCCAGCCGGCGCTGGGGAACATACTGTCCCAATTAGGAGCCCTGTATTGTGTTGTATGTGTTTTCATGGTTTTTGGGGGGAGAAGTGGGGAGGGGAGGATACTGTCAATCCTGCAGCAGGCAGGGCTCAATCAAGGGTGCCCTGTCTCTAGTGCTGGGCTGTGCCGTGGGTCATCCACGACAGCCCATCCCCAACTCTCTCTCTGCTTTCTGGACAGGGGTGTGATGACCCGTAAGCCCTGGGCTGCCATGTGGGGGAGGACCCTGGGCCCCACCTTCAGCACCTGTCTGATGGAAGAGGCCAGGTCCAGGGTGCTCAGAGTCCTCTGGGCAGTCAGCTGGAACCTGGAAATGGGCCTGGCTTGATGGGGGAGAAGACAGAGCAATTTGGGCAGCTTTGGCCCCCAGGTGGGAGGGTGCGGGTGGAGTTTCGGAGGGTATGGGTTTGCCTGATGGGCTGGAGCACTAGGCAGGGCGGAGTGTTGAGCCCCACATGGTATGGATGGCAAGTGGTGAGGGCGAGGCGTGGGCAGGTGGTTGAAGAGCCACGAGCGTCCTCTCCCAGCCTCTTGCCTGTTGGCAGCTTAGCCCCATCCTCTGAGCCCCAGGTCTGGGACAGCTGCTCTGGCTGTGCCTGCCCCAGTGGGATCACCATGGGTCCCTGTCTCCTCCCTCCCTCCAGAACTATGCTGCATGAAGCTGGTGAAGCCCTTCAGCTGAGGACTCTCCTGCCCTGTAGAAGGGGCCGTGGGGTCCCCTCCAGCATGGGACTGGCCTGCCTCCTCCGCCCAGCTCGGCGAGCTCCTCCAGACCTCCTAGGCCTGATTGTCCTGCCAGGGTGGGCAGACAGACAGATGGACCGGCCCACACTCCCAGAGTTGCTAACATGGAGCTCTGAGATCACCCCACTTCCATCATTTCCTTCTCCCCCAACCCAACGCTTTTTTGGATCAGCTCAGACATATTTCAGTATAAAACAGTTGGAACCACACAGCAGTGTCAGTGTGTGTATCTCTACAGTACCTGAACAGGGAGTGACTGTGAAGGGGGATATGCCTGGGTGGGCGGGGAGGGTGGACGGGGTATGGGTGCTGCTTCCAGCCCAGCCTTCTGGAGGGAGAGGCAGCTGAGAAGCAGTGGGTGGGGCCCGTGGAACTGCTTCTTCTTTCACAAGACTGGTTGGGGGTGGGGTGGGCTTGGGGCTTGGTGTCTGGTTTGCCTTAGCCCCGGCCTCCTCTGCCTCCTCTCCAATCCAGGACTTTCCCCTTTCCCCCTGCCTTCTCCTTACTCGGGCACCCCCCCCGTCTCCCAGGCTGCCCTTTGCCTAGGAGGGCAGCTACCTGTATCTTCTGGTTTCTTTGACCATGCTAGGGAAGAGGTTCCATTTTATAGAAAGGGAACTCCAGTGGGGAGGGTTCGGCCAGAAATCCCCTAGGCAGGGAGGCCACTGTACCTCTGGCTTTGGCCTATTCCCATAGAATCCTGGGATTTCTTGCGATTCTCTCTCTCTGCTTCCTCTCTCTGCTTTAAGAATCCGATCTGGACAAAGACACCTTTTTCTTGTGGTCTAAAGCTTAGTTGTAGCCATTGGTTTGACATTTCCTGCAGGAATCAGGCTTAATCTACAGAAGCAGCAGGAACATACTTGGAGAGAAAGCCAAGCGCTTGAAAACATCACGTTTCCAAGAGTCTCCTGCATCTCTCGCCTGAGGGGCTGAACTCTGTGAGCACAGAGCTGGCAGCCTCCACTCCCGTTACCCAGCGGGTGTCCCCGGTTTTCCACGGTGACCCTGCATCCTGGCCCAGTCCTCCTTGGCTCTTCACTGATTGGCAGGACTGGGGGTGGTTGGGACAGGGTTGATGTCTGGAACCTGCCTGGGTGAGGGAGCTACACCTTGAAAGCAGGGTGCTTCTTACTTCAGGAGAGCTTCAGGCTAGAGGTGGCTATGAGTCCTGAGACCCTGACACCTGAACCCTAGAGCCAGGGGCCACGCCGCACGTAGGACACAGCAGGGACTGGGGTCAGAGCTTTTCTGGGAAGGTCAGTCTGGTGCTGAGCCTTCACTGAGCACACTAAGCATGCCTGTGGGGAGGCAGTGAGAGGAGGCTGGCCTTTAGGGAGGGCTAGAGGGAGAGGAAGGAAGGGGTGGGGCCACCACTTCAGGAGGCCCCGAGCGAGATTTTTAGGAGAGGGAAAACCTGAGAATATTTGAAGGGAGGAAGGAGGAAGCCACTTGTTAGGGAAAGATCAAAGACACAAGAAAGAGTATGAGGTAATTCATGGAATCAGTTTCTGGAGAAGGAGAGGAGGGGGTTTGCTTTGGAAAGAAGGTCTGTTTTGTCTTCCAGGGCGGAAAGGCAAGAGGAAATGAATGAATACCATGCAACTATCAGCTGGATTAAAAGAGCTTTAGGGGTCATTGTGCTCATTTTTTCATTTCTTCCTTCACTTTATTCTTGATTCTCTGGGTTGCAGGTAATGGAAAACCCCACTCAAGCTACGAAAGGGAATTCAATGGCTTTACAGAAATGAAACACCCAGATGATTGGTTTCAGGTAAAGGCTGATCCAGCTCCTCAATGTGAGATCATTGAGAGTTTGTGTTCTCAAGGTTGGCTTCAGTTTAAAGCTGGCTCCATTCATCGTGCTGGGCTTGAAGCTGCTCTCTGAGACCACATAGACCACTAAGAAAAACTCAGAGGGGGATGAGGAATGGATGGCAAGGGGACACCATCCCCN | pathogenic | 39,094 |
Evaluate the clinical significance of the mutation at chromosome 2, position 72891411 in gene SPR (sepiapterin reductase): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Dopa-responsive_dystonia_due_to_sepiapterin_reductase_deficiency'] | CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAGGCTCAGGCAATTCTAGTGCCTCAGCCTCCACAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGGTTGCAGGTGTGAGCCACTGCAGCTGGGCCCCAGTGATGTTTTAGTAGAATGAGTTTAGTAGAGGGCTACAGAAGGAGCTGAGGCAGGGAGAGAAGCAAGGTTGTAAAAAGGGCCTGATTGTCGGGATGTGTAGATGCTGAAGGGTCCTACCTGGTGCCTGGTTGGCTCTGGGGACGATGGGGGAGGGAAGGAGGAAGTGATGGACGTTTTGAGTCTGGGAAAAGAATACTTCATTAATAGAAATGGGAATGTCAGGAGGTGGTGCTGGTTGGACAGGAGATGAGAATCTTGGTTTTAGACATGGTAGTCTAGAGGGTCCATGTTCAGTGGGCTTTTGAATTTCAGTCCAGAACTTGATGGTGACAAATTGGAGCCTTTGGCAACCCTGACCACACATTTCAGCCAAGATGACGTGTTTCCTCTGGCCAGACCTGACTCAGCCCCACCCCCGACATAAAACAGGGACCTGAAACCTTCTGTCCCTGCCTTGGCCATGTTCCCTCATCGTCTCCTTTTCATCCTCTAGGTCCTCTGGACACAGACATGCAGCAGTTGGCCCGGGAGACCTCCGTGGACCCAGACATGCGAAAAGGGCTGCAGGAGCTGAAGGCAAAGGGGAAGCTGGTGGATTGCAAGGTGTCAGCCCAGAAACTGCTGAGCTTACTGGAAAAGGACGAGTTCAAGTCTGGAGCCCACGTGGACTTCTATGACAAATAAGCCCATGTTTTTGGCTTCCTGAACCTTTTTGCCCCCACTTTTAGACATACCCCAGAGCCCTGTGGCTCCCCACACCCTGCCATAGGGGCAGTCCTGCCTTACACATAGAAGCATTCATGCCTGCTGCCCTGCCCTCAGGCACAGCCAGCTGTGAGCTCCCAGGTCATTGGCCTTACCAGTTGTCAGGAGTCTGTGCTGTGCACCCTGGGTTATAAGGAGGCTTAGGAGAGAGGTTATGGGTATTGGTGTCTCTATCCCCAGGAATAGAACTTAAGGGGTGGGAAGAACAGGAAAAGAAGCTGGAACACAGAAGAGAGGAGGTTGTGTCTCTTGCTCATAGCAAGCCTGTGGGTAGAGGAAAGAGTGATCTGGTGTCGAATAGGAGGACCCATGTAGATTCGCAGATGGCCTGGATGGGAGGAAGGGCAGACGGTACATGTCCCAGCCCACATAGATGCCCCTTGCTGAGGGTAGCAGGACCTTCTGTTGAACTTTGTGTCCTCACTCTGATGTCTCCTTCCTTCAGAATCTACCACCCCTCCCCCAGGCTGGGAGAAGGGGCTCCTGGGTGTCTGTATACACGCCAAAGGCAGATACAAATAAAATACAGATTGTCCTTTCTTCATGCTTGCTTTCTCCTCTGATACAGGGCCTATGACTGACTGCCTGGTTCACTGGGCCCAAGGCCATTCCCAAGGCAGTTAACCCAAAAGTGAGGTGTTGTCCTTATTTCCTAGGGAGCTTTCCGGGGGCCATCTGCCTCCAGTCATCAGGCCCCACTCAGTGGCAAGCCCAGGTGCAAAGTTGCCCACAATCGGCATGCCTGCTTTTTTGTGCTGTTGCCCACGCTGACCCCAGCCTTGATAGCCCTTTTCTCACCCTGGGCTATTCAGAATACCCATCTTTTAGGGCCCAGCTTACAGCCTGCCCTCCACATGGCCCTAAAGCCTGGGTCCTTTCCCCAACTCTGTGGATTGCCAATTCCACCCCCTGTCCACGTGGCAATGCTGTGAATGGATGCCAGCTGCTATTGGCCCTTTTGGCATTGTCCATCTGGCCCATGGTCCAGGTCGTCAGTGGGGTGGGCTTAGGACCAGCATGCCTTTGGGGGAGATGGGCAAGATTCCAAGAAAGGGAAGCTCTGAGAAATCAGGGCTGCAACCAAGCCAATCCTTGTGCAGGTTGGTAGACATAGGCTGGGCTGCGAGCTCCACGGCAGTGGTGGTCTGCAGCCAGCACCCTGGCCCCTGGCCATATTTGGGAGAAGGAAGCGTGGTCCCCTGCCCGCTGACTCCAGGACTCAGCCTGCCTCTGAGTGTGCAGAAGGGAACTCCTCCTTGTGCTCAGCAGAGGGCGCATGGAGGCCGCGCCTTTTGCTGAAGGGCAGGCCCTAGGCTGAAGCTGGCAGTGCCCTGCCTGCTCCCCTAGGAGGGAATGGGCGAACTTTTACCTGGTCCAGCAGATGCCTTGCCCTCATGCCCCCATCGAAGTAGAAATCACTGGGCTCAGGTTCCTGCTCTGCCACAGCTGGTAACCCAGGGCAAGTTTCTTCTCTGTGCCTCAGTTTCCTTATCTGAAAAATGTGGATTATAATGGCACCTACCCTGAAGGGTTATTTTGAACATTAAGTGACCTAATGTTTGTAAATGTTCAGCACAGTGCTAGCATTGTGGTAAATGCCCTGTAGATGCTAATATTATTTATTGCCTTTAAATATCAAGATCCAGCTCATCCTGGAACTCTGCTGGAAGCCTCCTCTCCTCTAGACAGTTCAGACATCCTCCCCTGCCTGACTTGAGGCAAAAACTCTCACTGTACTGCCCCTATTCAGCCTCCTGGAGGTGAGGGTGGGGTCTGGTCTGGATACCTTGTCTTGGATTTACAGGAAAATGTGTGAACTTTGGAGTCAGGAACCTTCAGT | CAGAAGGTGGTGACAGAGCAGCCATGGAAAGCCTGAGCAACTTGGGCAGAAATCCAGTAGCCTGTGTCCCTGGGGAATAGGGTCAGGCTCCCAGGGCAGACAGGTAGAATGGCCTGCACAAAGCACAGATGTGGCAGGGCTGGATCCCACCTTGCTTTCAAGTTCTTCCTCATGTTCTCCAGTACCCCAGCCCCTACCACCCCTGCCCCCCAACACACATGCACAATTATTCTCACAACCAACATTCAACTCATCATCCACTCTGAATTCAGCCCAAGGATTCGCACAAACAACAGTGACCAAATGTAAGCTACAACCAGGAGCAGAGCAGACTCCAGAAGTCCACATGGCTGCGTTTGGTCTCAGGAGGCTGCCCTGGGCATTATGAGGGAGCTGAGATTTTCAGGAGGTCCCCAGGGCCTGAACCAAGGCAGAGGCCAGTCTGGTTTTCATTTCGGTCTCAGGAAGAATGTTCTAACAGGTGCTCAGAGATGGAATGGGCTGTTTGGAAAGGCAGCAAGTCCTCTCTCAGCAGGGATGCACAGGTCATTGGAAAATAGTCAAGGACCAGGAGATAAATTCTCCCTCCAACCCTGGAATTCTCTGATGTTCTGCCCTCGAGGACCATTAACTGCAAATATTGGGGTGCATGAGTGATTCCTATGTGAAGAATAGAACGTGCTTGCAACAGTTCAAGAAGGGAACAATTCCTTTAGGTGGGGAGACTAGAGATGGCTTTATTGGAGGTAGCTGAACTGGACATTGACCTTGGTTGTTGGCAGATGGAAGGCATTCCTGATGAAAGGAAATAAAGGTGCGAAGGCTCACTGTGGGCGTGGCAGGTCTTCAGTTTGCCTGTAGAGTAGGTGTGCCCAGAGGAGGGCAGACTAGGATGCCTTGAGTATTAGGCCAGGCTACTGGGAAGCTGTTGAGGGGTTTTGAGCGGAGGAATGTTGTGATCCCAGTGATGTTTTTGTTTGTTTATTTGTTTGTTTGTTGAGATGGAGTCTCACTCTGTTGCCTAGGCTGGAGTGCAGTGGCACGATCTCGGCCACTGCAAGCTCCACCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGAAGAGATGGGATTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACTTGGCCTAGGCTCAGGCAATTCTAGTGCCTCAGCCTCCACAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTCCTGCCTCAGCTTCCCAAAGTGCTGGGGTTGCAGGTGTGAGCCACTGCAGCTGGGCCCCAGTGATGTTTTAGTAGAATGAGTTTAGTAGAGGGCTACAGAAGGAGCTGAGGCAGGGAGAGAAGCAAGGTTGTAAAAAGGGCCTGATTGTCGGGATGTGTAGATGCTGAAGGGTCCTACCTGGTGCCTGGTTGGCTCTGGGGACGATGGGGGAGGGAAGGAGGAAGTGATGGACGTTTTGAGTCTGGGAAAAGAATACTTCATTAATAGAAATGGGAATGTCAGGAGGTGGTGCTGGTTGGACAGGAGATGAGAATCTTGGTTTTAGACATGGTAGTCTAGAGGGTCCATGTTCAGTGGGCTTTTGAATTTCAGTCCAGAACTTGATGGTGACAAATTGGAGCCTTTGGCAACCCTGACCACACATTTCAGCCAAGATGACGTGTTTCCTCTGGCCAGACCTGACTCAGCCCCACCCCCGACATAAAACAGGGACCTGAAACCTTCTGTCCCTGCCTTGGCCATGTTCCCTCATCGTCTCCTTTTCATCCTCTAGGTCCTCTGGACACAGACATGCAGCAGTTGGCCCGGGAGACCTCCGTGGACCCAGACATGCGAAAAGGCTGCAGGAGCTGAAGGCAAAGGGGAAGCTGGTGGATTGCAAGGTGTCAGCCCAGAAACTGCTGAGCTTACTGGAAAAGGACGAGTTCAAGTCTGGAGCCCACGTGGACTTCTATGACAAATAAGCCCATGTTTTTGGCTTCCTGAACCTTTTTGCCCCCACTTTTAGACATACCCCAGAGCCCTGTGGCTCCCCACACCCTGCCATAGGGGCAGTCCTGCCTTACACATAGAAGCATTCATGCCTGCTGCCCTGCCCTCAGGCACAGCCAGCTGTGAGCTCCCAGGTCATTGGCCTTACCAGTTGTCAGGAGTCTGTGCTGTGCACCCTGGGTTATAAGGAGGCTTAGGAGAGAGGTTATGGGTATTGGTGTCTCTATCCCCAGGAATAGAACTTAAGGGGTGGGAAGAACAGGAAAAGAAGCTGGAACACAGAAGAGAGGAGGTTGTGTCTCTTGCTCATAGCAAGCCTGTGGGTAGAGGAAAGAGTGATCTGGTGTCGAATAGGAGGACCCATGTAGATTCGCAGATGGCCTGGATGGGAGGAAGGGCAGACGGTACATGTCCCAGCCCACATAGATGCCCCTTGCTGAGGGTAGCAGGACCTTCTGTTGAACTTTGTGTCCTCACTCTGATGTCTCCTTCCTTCAGAATCTACCACCCCTCCCCCAGGCTGGGAGAAGGGGCTCCTGGGTGTCTGTATACACGCCAAAGGCAGATACAAATAAAATACAGATTGTCCTTTCTTCATGCTTGCTTTCTCCTCTGATACAGGGCCTATGACTGACTGCCTGGTTCACTGGGCCCAAGGCCATTCCCAAGGCAGTTAACCCAAAAGTGAGGTGTTGTCCTTATTTCCTAGGGAGCTTTCCGGGGGCCATCTGCCTCCAGTCATCAGGCCCCACTCAGTGGCAAGCCCAGGTGCAAAGTTGCCCACAATCGGCATGCCTGCTTTTTTGTGCTGTTGCCCACGCTGACCCCAGCCTTGATAGCCCTTTTCTCACCCTGGGCTATTCAGAATACCCATCTTTTAGGGCCCAGCTTACAGCCTGCCCTCCACATGGCCCTAAAGCCTGGGTCCTTTCCCCAACTCTGTGGATTGCCAATTCCACCCCCTGTCCACGTGGCAATGCTGTGAATGGATGCCAGCTGCTATTGGCCCTTTTGGCATTGTCCATCTGGCCCATGGTCCAGGTCGTCAGTGGGGTGGGCTTAGGACCAGCATGCCTTTGGGGGAGATGGGCAAGATTCCAAGAAAGGGAAGCTCTGAGAAATCAGGGCTGCAACCAAGCCAATCCTTGTGCAGGTTGGTAGACATAGGCTGGGCTGCGAGCTCCACGGCAGTGGTGGTCTGCAGCCAGCACCCTGGCCCCTGGCCATATTTGGGAGAAGGAAGCGTGGTCCCCTGCCCGCTGACTCCAGGACTCAGCCTGCCTCTGAGTGTGCAGAAGGGAACTCCTCCTTGTGCTCAGCAGAGGGCGCATGGAGGCCGCGCCTTTTGCTGAAGGGCAGGCCCTAGGCTGAAGCTGGCAGTGCCCTGCCTGCTCCCCTAGGAGGGAATGGGCGAACTTTTACCTGGTCCAGCAGATGCCTTGCCCTCATGCCCCCATCGAAGTAGAAATCACTGGGCTCAGGTTCCTGCTCTGCCACAGCTGGTAACCCAGGGCAAGTTTCTTCTCTGTGCCTCAGTTTCCTTATCTGAAAAATGTGGATTATAATGGCACCTACCCTGAAGGGTTATTTTGAACATTAAGTGACCTAATGTTTGTAAATGTTCAGCACAGTGCTAGCATTGTGGTAAATGCCCTGTAGATGCTAATATTATTTATTGCCTTTAAATATCAAGATCCAGCTCATCCTGGAACTCTGCTGGAAGCCTCCTCTCCTCTAGACAGTTCAGACATCCTCCCCTGCCTGACTTGAGGCAAAAACTCTCACTGTACTGCCCCTATTCAGCCTCCTGGAGGTGAGGGTGGGGTCTGGTCTGGATACCTTGTCTTGGATTTACAGGAAAATGTGTGAACTTTGGAGTCAGGAACCTTCAGTN | pathogenic | 39,137 |
Variant at chromosome position 73385886, chromosome 2, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Alstrom_syndrome'] | GTCTTTTTAGTTGTGTAATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAAC | GTCTTTTTAGTTGTGTAATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACN | pathogenic | 39,150 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAA | benign | 39,156 |
A genetic alteration at chromosome 2, position 73385903, in gene ALMS1 (ALMS1 centrosome and basal body associated protein)—benign or pathogenic? If pathogenic, which disease(s) is involved? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGG | benign | 39,157 |
Variant at chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAA | benign | 39,158 |
Mutation at chromosome 2, position 73385903, within ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAA | benign | 39,159 |
For chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNN | benign | 39,160 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73385903 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNNNNN | benign | 39,161 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73385903 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNNNNNNNN | benign | 39,162 |
Clinical significance of chromosome 2, position 73385903, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | benign | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGG | ATATGAATCCAGGGATCAATGTCTTCTAGTTTTACTCCTGGGTCAGTTGTTGATAGTACCTGACATTTTTTTTTCTTGCATTGAGGCTCAAGGGAAATTGTTTTCTAATGCTTTTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGNNNNNNNNNNNN | benign | 39,163 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73386016 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAG | TTTCAGAAGACCAAATCTCTAACTTCAGAAGCTGCTTAGGTGGGTGCTTTGAGAATGCAGCTTCCATCTGTTGTTGATAAAGCAGGAGTTAATCTTAGAAGTCTCCTGCAGCAATTAGTGATAACAGCTTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAGN | pathogenic | 39,178 |
Chromosome 2, position 73386144, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Alstrom_syndrome'] | TTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAGTCTTAAGATTATGAGTTTGGTTTTGAAGATTGAAGGAGAAGGCTGGGCTAGAGATTTCAAGTTGTAAGTCATTTACATAGAGACCATAATTAAAGCCACACTTGTTGACTAGGTCTTCTAACTTTTAT | TTATATTAGTAGCATCTAGTATTGGAAGTAATTCACAAATACATGAGGAAGCCTGTTATTAACTCAGAAGGAGATAACTTATGGGCCTTAGAATGGACTGACCTTATTGCCATCAAGGCAAATAGAAGTACTTTGGGCTTTGGAAGTTAGATGGAAGTTAGAGAACTTTGAAAGCTATTTTTTAGAATTCTATTAGTTCTCTTTATCTTTCCTGAAATTTGTGGATGCAAAAAGATAGCGGAGTTTCTAAAAAGGTAAAGCTTTACAGTTATTTAATATCAGTGAAATGTGTGTCCTCTTACTGGAGATAAACATTGAGATTTCACATTCAGGAATACAAAATTAATAAATTCTTTTCTACTATTACAGTAATAGGTCTCCGGCAAGGAGAACCCCTAAACCCCTTAAGAATAAATAACCCTAATGTACTCATAGTCCATTTAGAGGTGTTCAACAGAACTCCAAGACTGGGCTCCAGTTCATGTTCTACCCTTAAAGTTTTGCCAGGATTGGGTCATTGACAGGTAGGCAGGACATACATCCTTGGCAATAACCCTAAAATTGCCCCACCAACATTGGTTCAGCATCATTATCAATGTATCTCTACTATTGTGGGTAATACCATGAAGACTTTTTGCTGGACTCCACTTTAATTATGGCTATTTCCTTTGGTAACAGTGAAGCATCTCAAGATTATAATTATTATTTAAAATTTTAATTTAAAAATTTTCCCCATAGGTTATTGGGGGTACAGGTGGTGTCTGGTTACATGGCATCTTAAGATACTTTAATTTGCCATTCATTTCGTAGAGGTTCCTGAAGCGGTCAGGAAATCTTTGTTTTTAAAGCACTCCAAAGTCATTGACGAACCACCAAAACATATGTACTATCAGTATAAATATTTGCTCTGTTATCCTTTAACAGCTGGTTGGTCTAGGCCAGGGCAATTCCTACACTAACAGAGGACCTGGGATGGCATACTGAGTCAGCCACTTACTAGGTAAGAAACTTTGGGCAAATTAATTTTTTTAGCCTCAGATTCTTCATACATGAAATAGTAATACTTGTCTCACAGAACCGTGAGCATCTAATGAGTTATTGTACAATAACCAACCTATCACTAAGTCCTTCACATTGATTATTTCCTTTAATTATCACACCCATCCTATGCGATGGCCTATTATCATCGTTTTATAAACACAAAGTCACACCACTTTAAGTGGTGATGCCAGGATTCAAACTCCGATCTTTCTGATGCCAGTGCCCAGTTCTTAATCCCTCTAACAACCCGTGACACTTTTCCACGGTTAGGTTCAAGCGCCCACCATACAGCTTGACACTTTAGGAGATACTCAACCTTTAAAACTTTATAATTTGCATGTGTGATTATAACGGGTACGTCCTAGAGTTTGATCTCTTCTCTGTGCAGGGGCGAAACTCGACCCCAGCCGAGAACTACACTGTCCTTGCGCGGGGCCCTCTGCGCCCCGGAAGGCGCCCAGTCCCGGTTTATTGTGAGCTTACAGTACAGTTCGCAAGGTCCCGGCCGGTGACGGCGGCGAGGCGGCAACGTCGCCTGTAGCAAACCTCCGCCCTAAGGCGTTCCCGCCGGGCCTCGCGCGGCGTCCCTAGCAACGCGCGCGCGGTCTTCCGGCCCCGCCCAGGCGGGCGGCACTGCGCCTAAGCTGGGCCACAACCGCCAGTCAGGGCTCTCCCCTTCCCCTCCCTCCCCCCCTCCTCCTCCTCCTCTGCCGCCCAGAGCGAGACACCAACATGGAGCCCGAGGATCTGCCATGGCCGGGCGAGCTGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAGGAGGAGGCTGCAGCGGCGGCGGCGGCGAACGTGGACGACGTAGTGGTCGTGGAGGAGGTGGAGGAAGAGGCGGGGCGGGAGTTGGACTCCGACTCTCACTACGGGCCCCAGCATCTGGAAAGTATAGACGACGAGGAGGACGAGGAGGCCAAGGCCTGGCTGCAGGCGCACCCCGGCAGGATTTTGCCTCCGCTGTCGCCCCCCGCAGCACCGCTACTCGGAGGGCGAGCGGACCTCCCTGGAGAAGGTGAGGCGGGCCGGGGAGGGGTGTGGAGCCGCGGCGAGTTGGGGGTGGAGGCTGGGCCCCGAGCGCTCCGCCCGCCCGCAGGTCACGCCGCCTGACGGAGAAAACGCGCGCAGCTGAGGCTAGTAGGCGGCCCAGACTCCAGCCCAGGTGCCGGCCGGCTGCTCCGCGTCTCCCAGGCTTTGTGGCAAAGACTTCTCGTTTCCTCCCCCTCGGTGGGTCCTGGGCCTTTTGAACTCCCGTAGACGTTCAGGGGAGCCTGCATTCCCCGTGAGAAACGCTGAGAGAGGACCACGGGTGTGTCGAGCCTTGAAGGAGGGAAAAGGCGGTGTAGGACCGGAGCGAGTGGTTGCCTGGGGAGCATCTTGTTGGGGAGACAGTGAACAGATGAGCTTGACTGAATTGCAGGACTCCCCTGAGGGAGTAATGTGGATAATGTACACCGCGCGATCACTTAGTCTGGAGAGGCTCCCCGCGGGTTTTCCTCCCCTGGACCATCATTTGTAGCAATAAAGGGGTTCCCCAGCCGATAGGAGGGGCTTGGAATGCAGGAGGCTTGTGATGCGGCTCCAAACAGTCTGCAAAACTACAAAGCACAGATAATACACAATGGAGAAAGCCGATTTCATGGTAGACCCCCGAAGATCATTTTGAAAATAACTCTCCATTTAATTTGCTGCCCTTACCCCCCTTTTTTTAACTTACTGCTTTTCGAGGAGCAAGACCTGCCCTGCTCAGTACAGTAGCCACTGGCCACGTGTGGCTTTTTACATCTTAAAGAGAAAACTATTATAGTTTTGAGTAAGAGTTAAAAATAAATTAAATGAAAAATTCCATGCGTCTGTTCTTACCGGTTTTCAAGTGCTCAGCAGCCACACTAGGCTAGTGGCTACCATGTTGGACAGAGCAGATAATGGAACAGTTCCATCATCACAGACAGTGAAGGTGTAGAGTTTTGTCACTAATGAGCAGTAGTTGTTGTTTTGTCTGGTGAATATTCCAGGGGGTACTTAATTCATTGAACATGTATTATTAGAATTCACCATGTGCCACACATTGTGCTGGGTGCTAAGGAAAGCTTGGTGAACCCAAACATTTTTGGTCTCTGCCTTCCTTGTGTTCATGGTCTAGACAGGGAGGCAGACAGATTTCAGATGATCACATAAAGTGAAACTAATATATGTGCTAATATTCTATGAAAGCATAAAGTAAGATAATCTGGCCTTGTCAGTGAAGTTGGGAAAGCCTTCTTGAGGAGGTTATGATAGAGCTGATATCTGAAGACAGTTTAAGGTTAATCAGGCAAAGGGGAGGGAAAGAGCCGTCTAGCTGAGGGAAAAACACATGAAAAGGTACTGTTGATGAGAGAGAGCATGGCATTTTCCAGGACCCAGAAGCCAACGTGGTTTGAGCACAGACTGCAAGGCTTTGTGTGCTATGCCAAGGATTTAGGGGCTTTATCTCTGGAGCTTTGGGGAGTTGAAGAAAATATTTGAAACGAGGGGATGTATGATAAGTTAGGTGTTTCAGAAAGGTCAGGTGTATAGCAGAGTGTGGAACAGCTGTGATAGCAAGGTGGGATGGGGAGCAGTAGCCATAGGTCAAGGGCATAAATTAGGAGACCATTGCAGCATTGCCCGGCAAAAGATGATGAAAGTTTGGAATAGGGAAGTGTTGGTGGATACAGGGAAAAGTGGACTGATTTGAGAGATATTTAAGAGGCAAAATCATCATACTTAATAACGGATGGGATGTGAAAGGTGAAGTAGCCAGGTGTTAGGTTATTGTTTGAATGGTTGTGCCAATATTAAGATATGGCCAGATTTATGGTGGAGGTGGTGGCTGTGAGTGGGTGGTGGAATTGGTTGGGTGAGTCTTAAGATTATGAGTTTGGTTTTGAAGATTGAAGGAGAAGGCTGGGCTAGAGATTTCAAGTTGTAAGTCATTTACATAGAGACCATAATTAAAGCCACACTTGTTGACTAGGTCTTCTAACTTTTA | pathogenic | 39,186 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 2, position 73408654, gene ALMS1 (ALMS1 centrosome and basal body associated protein). What disease(s) is it linked to if pathogenic? | pathogenic; ['Alstrom_syndrome'] | ATCATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACT | ATCATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTNN | pathogenic | 39,202 |
A mutation at chromosome position 73408656 on chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Alstrom_syndrome'] | CATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTTT | CATAAAACTCCTTAGGAGGATAACAACCTGTTTAAACTAGTAACAACTTCACTTCAATCACATATAAAAACTCTAGTCCTTTATAGCTTTGCCCCCCAACCTCCACCTCCCGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTAAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACA | pathogenic | 39,203 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73408766—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | CGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTAACTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTTTGAGAACCACTTTTCTAGAACATAGTTATAAACTTTGAAGAAATGAAACGATCATGAGCAGATAGGAAAAAAGCTCATGTAGAGTTATTGGAGGAAAAATGTTATTAGTGT | CGGGTTCAAGTGGTTCTCCTGTCTTAGTCTCCCAAGTAGCTGGGACTACAGGCACAGGCCACCATGCCTGACTAATGTTTACATTTTTAGCAGAGATGGGGTTTCGCCATTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACTTGCCTTGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCGCACCTGGCCAAAGTTATTAGTACCCTGTTAACAACATTTTACTGGTGTCACAAGTAACATGTTTATATATTGTTTAACCATTAACATACTTTCTTAGTTTGTTTTCTCTTGCTTATAACAATACTTGAAACTGGGTAGTTTATTTTAAAAAGTTATGGAGGCTGAGAAATCCAAGGTCAAGGGTGAGGGCCTGATGAGGGCCTTCTTGCTGATGGGGACTCTGCAGAATCCTGAGGTGGTGCAGGGCACATGGTGAGGGGGTTGGGCATGCTAGCTCAGGTCTCTCTTCCTCTTCTTATAAAGCTACCAGTCCACTCTCATGATAAGCCATTAATCCATTAATCCATCAAGTCATTAAGCCGTTCAGATCTGCCCTCATGATTAATTCATTCATGAGAGCCCAGATCCCTGATGACCCAGTCACCTCTGAAAGGTTCTACCTCTCAGTACTGCCACATTGCGGATTAAGTTTTAACATGAGTTTTAGAGGGGACAGATACTCAAATCATAGCATGTAGATTTATAGTTAATTTTTATGCTTTTGTCTTTTAAATCCTATAAAAGAATTAAGGTGGAGTTACTCACCAGAATTAAAATAATGTTTTTATATTTGTCCATATATTTACCTTTACCAGAGAACTTTATATTTTCCTATGGCTTAAAGTTACTATCTAGCATCCTTTAATTTCAGCTTGAAGGACTGCCATTAGCATTTCTTCCAGGTGAGGTCTAGTGGTAATGAACTCTCTCAGCTTTTGTGAATGTTTTAATTTTCCCTTTTACAGGTGCATGCCATCATGCCCAGCTAATTCTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCACCTTGTATCTTTCTTTGTCTGTTCGAGGATCTGAGATACTATTTTAAAGTCCTTTGGAAGTATAGTTTGTAATCGGATTTTTAGTAAGAGGGTTATTTTTTTTTTCTCTTTGTGTGCATTCTTCTCTACCTGCTCTTTTTGTGGTTGTTTCTGCTTTGTCCTTTATGGCATCTTCTTTAGAAGGAAATCTTATATTGGAAGCTCTGGGTTCTTATTCTTCAGGGTTATTGGGAAAAATCTCAAGAACCAGTCCCTGAACCAGTGGGTGGCTTGACCAGGTCATTTTTGTTTTATTGCCTGTAATCTGTCCATTTGTGTTCCTTCAGCCTTTGGCTATGGTCACAACGTTTATTGCCTTCTTTCACTAGTAGGAGAGCGCTGCTCCAACCCCTTACTTCACAAAATGATTCTGACTTTTGTTCCCACTTCTTGTGCTATGAGTTGATTTCAGTCCCTATTATTGGGGTTGATTTTTAACTGTCTCAACCAGTAAGATTTAAAAATAGACAACTTGCTTGTTTCTGTTTGCTGCTTTTACCTCTATGGGTAAAGGAGGTTAAGGAACTGCTGTGGTTTATGCAAAAGTATGCTGTGTCCTAACTGAGTAACCTTAAGGATAATAGCTTGTATAATGGTTGTGAAATCAAAATGTCGTATATGTGAAAGGGCTTTATAAACTGGGAAGTATGGTCTAAATATTAGTTTATTTTTGTTGTATAATCATAGTGATTGTGTTATTACTCTATTTAAGCCTGCTTTTGATTTTCAGATTGTTCCATTGACCTGTCATGTATGGCAACAGATAGTATATCAAGGCAATAGTAGAACACAAATTTCTGATACTAATGTGGTCTGTTTGGAAACAACAGCTCAGCGGGGTTCTGGGGATGATCAGGTATGTCTTCTGTAACTGGCTTTTTTTTTTTGATAAGCAGCACAAGAAATTCTGATTTAGCTATGAAGAATGGAAAAATAAATTAATATTCATTAATATTATGTTTTCTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGGGCAGTGGCATGATCATAGCTTACTGCACCCTCCAACTTCTAGGATCAAGTGATCCTCCTGCCTGAGCCTCTTGAGTAGCTGGGACTACAGACATATACCATCAAACCCACCTAATTATTTTTAAAAAATTTTTTATAGATGGAGTCTCGCTTTGTTGCCCAGGCTGGTCTTGAGCTCTTGGCCTCAAATGATCCTTCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGAGTGAGCCACCACTCTTGGCCAAATATTCTATTTTTCTAATAGATTGTTGTAAACTTTATGTATATGTAGAAGAGCAGTTCACTTTTTTTGAAGGCGGGTCTCAGGACTCTTATTTTTATTTTTAGTTTAAAAATTTTTTATAGAGATGGGAGTCTCTGTGTTTACTGGGCTGGTCTCTCATTCCTGGCCTTAAGTGATCCTCTTGCCTCGGCCTCCTAAAACTATGAGATTACAGGCATGAGCCACTGTGCCTGTCCTCAGGACTCTTTATATTCTTCACAAGTATTCTTAAGAGCTTTTGTTTATGTGGATTATCTATATAGATATTTAGCATACAAGAAATTAAAACATTTAAAACTATTTTAAAATTTATTTTGAAAGAACAAACCTATTACATATTACCATAAATAGTATATTTTAAAGTAAAAAATGACTGTTTTCCAAAACAAAAAAATTAGTTGGAAGAATAGCATTGTTTAAATTCCGGCTTACTAGAACTCAGTTGGTATATTATTCAGGGTTCTCCAGAGAAACAGAACCAATAGGTTGGAGATAGATACATCTATCTATTTATACACATCTGTGTGTATGTGTATATATATATCTTTATTGATATTTATTATATAGAATTGGCTTATGTGATCATGAAGACTGAGAAGTCCCAAGATCTGCAAGCTGGAGCCCCAGGAGGGCTGATGGTATAGTTCCAATTCAAGTCCAAAGGCTTGAGAACCAGGAGCACCAGTGATGTAAGTTTTGATCTGAATCTGCAGGTAGAATACCCTCCAGCTGGAAGACCATCAGGCAGAGAGAACACATTCTCTCTTGCTCAGCCTTTTGTTGTATTTAGGCCTTCAAGGTACTGGATCAGGCCTACCCACATTGGAGAGGGTAACCTGCTTTACTTAGTTTCCAGATTCAAATGTTAATCTCATTCATACACACCTCACAGGCCAGGAACAGTGGCTAACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACACTGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGTGCACACCTGTAATTGCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGGTTGCGCCACTGCACTCCATCCTGGGCGATGGAGCAAGACTTGTCTCAAAAAAAAGCAAAAAAACCCAAGAAAACAAAACAAAAAATACCACACACATACACACACCTCACAGACGTATCCAAAATTGTGTTTAACCAAGTATCTGGACACTCCATGATCCAGTCATTTTGATACATAAATTACCTATCATAGCTGGATTCTCAGTCTGCTCTGCATTTCATTTGTTGGGATGTATTGTTTTGGTTGAAGTATATGAAGACAATCTTGCCTTACATAGATGAAAAAGGAGTTAGGGAAAGGAGGCTGTCATTCAGTCCCTGAAAGGGTGTCAGTGACCCTCAGGGATTTTTGGACTACACTTTGAGAACCACTTTTCTAGAACATAGTTATAAACTTTGAAGAAATGAAACGATCATGAGCAGATAGGAAAAAAGCTCATGTAGAGTTATTGGAGGAAAAATGTTATTAGTGTNNNN | benign | 39,213 |
Regarding the variant found on chromosome 2 at position 73422963 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | CTCAAAAAAGAGGGATGCAAGCCAGTAACAGATATCCACACTTGAGGAAACAAGAAGCAGTTGAAAGCTGTAAGAAAAAGGCATGGCAAGTAAAATACACCACCTTCCCATCACACACACACAGATAATGTTGTACACTTGAGAATCATTAACTCTTCAGCTTTGGCCTGCTCCTTTAGCAAATACATTTGCCTATTTATGTGATTTAACTGTCCAACTCCACCCTGAGATATTCTTAAATATTTAAGGAGATGCTGAAATGCTGCTTGTAACTTACTTGTTACTTACTATTCCTTACTTATACTTAAATAGCTATTTTAGGTACTGAGGATTTCTGTAGGTTCTGAAACCTAGTTAGGGTTAACTCTAATTTTTTTTGAGAAAAGACTGTCAGATTCTTTAAATACTCAGCCTGCAGTTAACTGGAAATAGTAAATTTGCTTTACTTGCCCAAAGGTCCCCCTTGTAGCATCAGCTCTAGTGTATTTGGGGACTTTGTTAAAAACTCTTCATGAGTTTTAGAGGGGTGAAGGACTGTTACGGAGGTTTAAGACTGCTTCTCTGTGCCAAGACCAAAGAGGAACTGTACCAATTGTTCCTTGGTGGCAAAGGTTATTGTTACATATCAGTTTTTCATTTTTAATTAATTCATTCAGTAAATAAATAACTCTCTTTTGAGTACCTTTTAAGTGTAGCAGGTACTTTGCTAGGCACTGAGGATATAGCTATGGATAAAGTAGACACAGTTGACAATTTAGATGGGAAGTGGATAGACTGAAGATTAAAACAAGAGGGTGATGAATTATATGGAAGGTATGCAGGGTATATAAGCAGTGACAGTATGTGTTTTGACTAAGTAAAGGACAGATGACAACATGGTGAGCTCTGTGAACTCTAGATTTGCAGTAATTTCAGGGGGAACAGTAATGTGAGAGAGGAGTCCTCACTTTGTACACAGTGTTGCAGGCATTCTGAAATCAAGAAAGTATACTGATTAAAATAAGAATGATTTAAGTCAACATTCAGGAAATCACAAGAATTTTTTTTTCATTAAAGCAGCAGTTCAAACTTTTTGGGTAACAGGATTCTTTTACACTTTTAAAAATTACTGACAACTCCAAAGAGCTTTTGTTTATTTGGGTTATTGATATTTCCCACATTAGAAATTAAAACTGAAACATTTAAAATGTATTTATTAATTCATTGAAAAAGTACATATTTTATAAAAAATAACTTTTCCAATACAAAAATGTTTAGAAGTATGGCCATGTTTTACTTAAACAATTCTATAATGTCTGACATAATAGAAAACATCAAGACTCTCATGTCTGTTTCTGTATTCAATCTGTTGCTGTATCATATATTCTGTAGCTTCTGGAAAATGTCACTGTATCTTTTTGAGAGAATGGGAGTGAATAAGGCATATGATATCTTAATATTATTTTGAATAAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACA | CTCAAAAAAGAGGGATGCAAGCCAGTAACAGATATCCACACTTGAGGAAACAAGAAGCAGTTGAAAGCTGTAAGAAAAAGGCATGGCAAGTAAAATACACCACCTTCCCATCACACACACACAGATAATGTTGTACACTTGAGAATCATTAACTCTTCAGCTTTGGCCTGCTCCTTTAGCAAATACATTTGCCTATTTATGTGATTTAACTGTCCAACTCCACCCTGAGATATTCTTAAATATTTAAGGAGATGCTGAAATGCTGCTTGTAACTTACTTGTTACTTACTATTCCTTACTTATACTTAAATAGCTATTTTAGGTACTGAGGATTTCTGTAGGTTCTGAAACCTAGTTAGGGTTAACTCTAATTTTTTTTGAGAAAAGACTGTCAGATTCTTTAAATACTCAGCCTGCAGTTAACTGGAAATAGTAAATTTGCTTTACTTGCCCAAAGGTCCCCCTTGTAGCATCAGCTCTAGTGTATTTGGGGACTTTGTTAAAAACTCTTCATGAGTTTTAGAGGGGTGAAGGACTGTTACGGAGGTTTAAGACTGCTTCTCTGTGCCAAGACCAAAGAGGAACTGTACCAATTGTTCCTTGGTGGCAAAGGTTATTGTTACATATCAGTTTTTCATTTTTAATTAATTCATTCAGTAAATAAATAACTCTCTTTTGAGTACCTTTTAAGTGTAGCAGGTACTTTGCTAGGCACTGAGGATATAGCTATGGATAAAGTAGACACAGTTGACAATTTAGATGGGAAGTGGATAGACTGAAGATTAAAACAAGAGGGTGATGAATTATATGGAAGGTATGCAGGGTATATAAGCAGTGACAGTATGTGTTTTGACTAAGTAAAGGACAGATGACAACATGGTGAGCTCTGTGAACTCTAGATTTGCAGTAATTTCAGGGGGAACAGTAATGTGAGAGAGGAGTCCTCACTTTGTACACAGTGTTGCAGGCATTCTGAAATCAAGAAAGTATACTGATTAAAATAAGAATGATTTAAGTCAACATTCAGGAAATCACAAGAATTTTTTTTTCATTAAAGCAGCAGTTCAAACTTTTTGGGTAACAGGATTCTTTTACACTTTTAAAAATTACTGACAACTCCAAAGAGCTTTTGTTTATTTGGGTTATTGATATTTCCCACATTAGAAATTAAAACTGAAACATTTAAAATGTATTTATTAATTCATTGAAAAAGTACATATTTTATAAAAAATAACTTTTCCAATACAAAAATGTTTAGAAGTATGGCCATGTTTTACTTAAACAATTCTATAATGTCTGACATAATAGAAAACATCAAGACTCTCATGTCTGTTTCTGTATTCAATCTGTTGCTGTATCATATATTCTGTAGCTTCTGGAAAATGTCACTGTATCTTTTTGAGAGAATGGGAGTGAATAAGGCATATGATATCTTAATATTATTTTGAATAAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTAGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAAC | pathogenic | 39,237 |
Is chromosome 2, position 73424412, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCT | AAAATTTTGACATTAGGTACCCCCTAAGAGTGTCTTAGGGCCCAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTNNNN | benign | 39,243 |
The mutation impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2 at position 73424454: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome'] | CAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCT | CAGGAGCTCCTGTGCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATAACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCC | pathogenic | 39,245 |
Does the variant on chromosome 2 at location 73424467 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | GCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCT | GCTATGCTTTGACATAACGGGTGTAGTCTATATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTNNN | pathogenic | 39,246 |
Is the genetic variant on chromosome 2, position 73424497, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Retinitis_pigmentosa'] | TATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTA | TATTATGTAAGATGGGAAGAAACACTCATAATAGTTAAGAGCGTTTGCTAAAAGTTGAAATGCTTGGGTTCAAATCTCACTCTGGCATTTCAGCTACTTGAATGTGGACAAGTTACTTAATGCTTTGTAAGTTTTGTAATCATGTTTCCTCACCTATAAGATATATATAATAATACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTANN | pathogenic | 39,250 |
Clinical significance of chromosome 2, position 73424670, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | TACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTC | TACCTATCTTTCAAGGTTGTCATGAGGATTAAATGAAATATTGTGTGTTAAGCACCTGGACCTTGTCAGACTCTCAATAAATGGTAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCNN | pathogenic | 39,261 |
Determine if the mutation at chromosome 2, position 73424754 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | TAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAA | TAGCTGCTACTGCTGTTGCTTTTATATTATTATTCTAATGCTTGTAGAATTCTCCATATGGCAGCATATGTAGGTGCTTTAAAGTATTATATACGTAAGTAAATAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAAN | pathogenic | 39,266 |
Clinical significance of chromosome 2, position 73424857, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['ALMS1-related_disorder', 'Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | TAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGACACAGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAAAGCCTGTAAGTTTTTCTATTTGACATTTTTTTCTGGGCGGGGAGGGAATGTTTTATTTGAAAAATTTCCAAATTTTATTTGAAAATACTTTATTTGAAAAATT | TAATCAATTTTCAGCATTACCCAGCATTTAATATTTGAAACTTTACAGTCATACAAGATAGCTTTGCTTCTCCTGATTTGCCTTTGCTGACCTGTTTGACACAAGACCAAGAATTTGCGCCTGATTCTTTATTTCATCAAAGTGAACTAAGTTTTGCACCTCTGAGGTAGGATGATTTATTTGCATGTAACCTTTCTCACTTCTTGTTCTATGTTTTTACTAATATTAGTGACTTCAGGCTAAGGTGGGACTTTGAGGTGGGGCTTAGATACTCTTAGGACACGCCCTGAAGGTAACAAAGTCCTGTACTAAGACTTGATGCATATTAATTTGGCAGAGTAACGTATGTGTAGAGATGAACCAGATGACAGTAGTTTATTTAAAAATAATTCCTAATATATTCAGGCATTTCAGGCATATTTTAATTTAGAAGACACACTGGATTTTCCTTCTTATAAACCTCCCCATCTGCTGCCCATCATCTCTCTCCTCCCTCTCACCCTTATTCTGCAAAAAGCATTTATTTCTTGTTCACTAACTTGTTTGGCACTCTCATTTTGTTCAGCTGTTATTGAATGAGACTAGTTAGCTCTCCTTACCTTATAGGAGGTGTCAATATGAAGTAAGAAGATTTTTATGAACAGACATATCCAAATGAACAGATACTCCAAATTCATGTCCTTTAGAATAGTCATAATGGGAGAAAAGTCTGGAATTTTCAAAACATATTTGGAATTATTCAAGAATATGTTTTCTTCTTTTAGAATTGAAAACCCACCTTAAATTAAAAACTATAGATGTTTAGAAAGTAAAAAGTAACCTCTGTCCTTATACTATATATTTACCTGATATCACTTTTATGAAAAGTGATCTATACACATTAGATCATCAACTAATGATTAAGTTACTGTTGTGTTTTGGGAATAGATCACTTCTTAAGTGGTTTCTTTCTCTTTCTCTTTTTGTTTGTTTGCTTTTTTTTTTCTTTAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCCATCATGGCTCACTGTGACCTCTAACTTCTGGGCTCAAGCAATCCTCCTGCCTTAGCCTCCACAGCAGCTAGTACTACAGGCATGTGCCACCATGCCCAGCCAATTTTTAATTTTTCTGTAGAGATAGGGTCTTGCCGTATTGCCAAGGCTTGTCTTGAACTCCTGGCTTTAGGTGATCCTCCTGCCTCAGCCTCCCAGAGTGCTGGGATCATAGGTGTGAGCCACTGTGCCTGGCCTTGCATGGTTTCAAGAGCACAATAAATGATGACTAGTAAAAAAGTTAACGCAGGTTAAATGAAAAATCATGGTAGGCGTCATTATGAAAATCACATTCTGTGTCTATTGTTTTAGGAGAAGTCTGAGATAATATCAGGGTTATAGGGTGGTAGTTCACCTTTTAGTTAAAAAGAATTTGCTTTACTCAGTCATTAGCCATCTTAGAAGAGTCTGAAATTAGGAGAGCTGTGTTTTTCAATACACTTTTCAAATAAACTTGATTTCAGTGACATATGTATTTTTGTGTTAGTACTTAAAAATTAAATGTTTTTAATGTTATTTATTTATTTATTTTTAACTATATATTTTCAGGGGAATTCCTGATAAGTCTGAAGATACTGAATGGTCTTCTCGACCATCGGAAGTTAGTGAAGCTTTATTCCAGGCTACTGCAGAAGTAGCTTCAGACTTAGCAAGCAGTCGCTTTAGTGTATCTCAGCACCCGCTTATAGGCAGCACAGCTGTTGGGTCTCAGTGCCCTTTTTTACCTTCTGAACAAGGGAATAATGAAGAGACTATTTCGTCTGTTGATGAACTGAAAATTCCCAAAGACTGTGATCGTTATGATGATCTTTGTTCATATATGTCATGGAAGACACGAAAAGATACACAGTGGCCTGAAAACAATTTAGCTGATAAAGATCAAGTTTCAGTTGCAACTTCATTTGACATAACTGATGAAAACATAGCTACTAAAAGAAGTGACCATTTTGATGCTGCTCGTTCATATGGGCAGTATTGGAAGATTCATCTAAGCAGGCAGAAACATATTTAACCAGTAAGTACCCTGATTCTTTTTCAGATTCATCTGACACAATTGATAAAAATAAAATTCCCAAGGGAAGTAACAATTTTAGTGTCCCCTTTTCCTATGTGCCATGGAACAAAGAGGGAACTTTGCACCACCCAGAAACGTGTGTAATCAGTAAGGACTGTTTTTCCTTTCCATGTGAAGTTGCTGCTCATCATCATCATCATAAAATGTCATATTCTTTCTTGTGTTGTTTGTTGGAAAGAAGAGGAAAAGGGGTTCCCTTGACTTCTGATAGTCATTATTTTGAGAATGTTTATTTAAGGGCTCCAGCTGAGATTGAGGTGAAACAAAAGATGGATTCTTTGGAGGGTTATGAAAGAAATGAAGAAGGTTTACAGAAAGAATCATCTCAATGTTTTGAACTAACGGAGACTAGAAATAATTTAGTATCTTCAGAAGTGCAACCCAGATTCTTAGAAATACAGTATATTAGGAATGTTATAGCTCCTGATAATTCTGTAAAAGTTTCAGAAGCACATGTACTCTCCAGGGGACATAATACCTCTAAAATGGAGGCTTCTGGTTGGATTGTTATATCCAACTTGGATGAGATATCAGAACAACTGTATTTTCAAGAGGAAAGAAACCAAAAGGGAACTTCTCTTTTTGGTGAGAAAAATATTGATGCTGCTGAAAATATAGCCTTTGAGGCAGTTATTGCCTCTATTGAGCCTTCTAAGAAAGAGAGTACAGTAAATGAAATCCAAGCTGACATCAATAAATATTTAACAGATGACAGCCGAGAGAGAGCCAAAAAATCCAGATCTTTCTCCATTAAATTATAATGATGAAACCTCTTTATTTGATAGGCTTAAACATCCATGCTATCAGTCTACTCCTGGGGTGTTTGAACCAGCAGCTTCAAAACCATTGTTGCATAAAAAGGGTAATAATGATAGCTTCCTATACTGGCATCCAAATTTAAAATTACCCCCTAATGCTCTTCAGAAAATGTTCATTAAGCCACTTTGTGTTATTCCAGAGCTTAAGTCATCTGCTTCTTTGAGTGAAAAATCTTACAACCAGGCTGTTGGTCTTGGCAAAACACAGTCAGCTTTATTTCAGTGTGATATAGGCAATGAACCATTTCTTCCCTTTGGGAAGATAAAGTCTGTTCCTTCTCTTGACCTTGCAGAGAAGGTAGGATCTTCAGATGTTATTTATCATGTGAAAGTATTAACTTCAGAATCTTTGGTTTTACAAGATTTAAAGCAGCCAACCTTTGAAGAAGTTGCAGATTACTCAAACTTTAATTTGGGTAAGGATGTTAACTGTAGAAATGCCATTAAAGGTCCACCTGCAGCTGTAGGAAGCAGCTTTTCAGCAAACTTGGTGGCATGTGATGCAAAGTCACAAGGTGCTTGTACCATTGACCAGTGATGCATCATTAATTGCAGTCGCCCAAGAGACATTGCTGAAAGCTGATATAGGCCAAGGTGAAAGTCCTTCGTGTGTGGGAGCTGAGCCTAGTTTTACTATACATACAATTATGCAAAATGACTCCTATTTTGTAGAGGGCCTGCAGGGGAAGGTTGAGTCTGACGTCATTACTCTGGATGGCCTAAATGAAAATGCTGTTGTATGCAGTGAAAGAGTTGCTGAACTACAAAGAAAGGTGAGACACAATAAAATGATAGTTGTAAGAAACGTGGCCTTTTTCAGTATTGTTTCAGGAAATGGTATTGTTTGTTTTTATTTTACTTTTTACTGTTTCCTGGGTACATGACCAATGTCATTTGACTGGTGAGTACATTGAGCTAGCAGCTTTAGAGAAATTTCATGGTGATCTAGAGATGCATGACAGCTCCCTGCACTGGCAGCCTACTTTACAACTACCATCTGAGAAGGAAAGCAATTTTGAAAAGCCTGTAAGTTTTTCTATTTGACATTTTTTTCTGGGCGGGGAGGGAATGTTTTATTTGAAAAATTTCCAAATTTTATTTGAAAATACTTTATTTGAAAAATTNNNNNNN | pathogenic | 39,278 |
The mutation impacting ALMS1 (ALMS1 centrosome and basal body associated protein) on chromosome 2 at position 73432289: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCAACGTGCCTGGCCGGTATTACCTACTTTAATAGTTCTATATTTTGAAACTTTAACATAATGAAATTTTTTTGACGTCAAGCTTGTAATAAAAATTTTTCTTTCTGTGTTTGAAAGCTGTAGAAGAAAAACTGCTGTAAACTATAAACACACACTGTCTCTCACAAGTGTCTATATATTATATATGGTCATGCCACATAATGATATTTCAGTTAGTGACAGACTGCATATATGATGGTAGTCCCATAAGATTAAAATACTGTATTTTTACTGTACCTTTCCTATGTTTAGATACACAAATGCCACTGTGTTACAGTTGCCTACAATATTTAGAACAGTAACATGCTGATAGGTTTGTATCCTGGAAGCAGTAGGCTAGACCATATAGCCTAGGTGTGTAGTAGGCTACACAGTTGTAGGTTTGTGTAAGTCACTCTGTGATGTTTGCACAACAACAAAATTGCCTGACAGCACATTTCTCAGAACATACCCACATCATTAAGTGATCTATGACTGCATATTATATATATGCATATATATTTATATATATTTATGTGTATGTATATATGTGTATATATATAGCCTGTACTTCAGAGAAGTTTCCTGTAGGAGTGAGGTAATTGAAAACTATGAACTTTGTGCTATGTGGAGAGCAGGGCTTCTTAGCAGCCTTATCATTTTGAGTTGGATAATTCTTTGTTATGGTGGGAGGCGTGTTTCCTGAGTATTGTAGGATGTTTTGCATCATCCATCCCTGGCCTCTATTCACTAGATACTAGTAACATCCCCTCCCCTCACAAGTTATGACAGCAAAAAATGTTTCCAGGCATTGTCAAATGTCCCTTGATGGGTACAAAATCTTCACAAGTTGAAAAGTAGAGAAACCTGTATGGGCAGTAGATGTAGATATAGAAATAGATATGGAATGTTCATTTCCACACTTCACATGGCTTCCTAAGAATGTTCATTACTACACAATGAAAAATTGATGAAAGAGGATAGAAAAATTCATGCTTATGTACATTTTTAGACTTCATCCTGAGAAGATGTGACTGAAATAATCTTTTTAGGGAAATAAAGACAATCTAAAAATGATATATATTTTTATGTGAGGGTGCACTGTGAATTTGGTGAAAAGTTGTACATGTTTAGGTATTAATGTCACCAATATTGGTTTCTAATTTCTTTTCTAGCAAGAACTTGTGACTTGATGAAACATTAGGAACTTCTTTTTGAGCAGTTACCCTTTACTTCACTACCAATTTATAGTTTCCACTACTTTTGTTTTAAGAAGTTTGAGGACTTATGCTTGTTGGTAACCGATCACAGTTATAGTTCTTTGATACTCTCATTTTTCTTCTAAACATTTGTGAGTTTCTAGAAAATATTCCTGTTTTCTTTTTCCTTCTTACTGTTTCTTGTCCACAGTGCACCTCTCTACCTTAAAAAGAAATACCTGAGCTTGTCCAGAATAATCCCATGGTTCAAATTCTGCGATGATCATAAGGAGCAAACTTCTGAGTAACAGAACACTTCTAAGCATACTATCTATAATATTTTATCTAGACAGATTTCTAAGCCCTCAGGATGATTTAGTCTTCTAGAGTTGACCCAATAAAATATGACCTATATATGAATTCAGAAGGTTTGAGATTATGATCTTAAGTAACTAGTATAACTTCTTAGTGTTCCTCTTTGTAAAAATGAAGGATTATTTTTAGCAGATGAGGTTTGAAATTAATATCTTATTTTCTTCATTTCTTCGTAGGTGGGTCATTCTAATCTGGGCATTAATGAGTCTTTTTCATTTTTATTGCCTTCATTTGTTCCACATAAGCCAACAAGAGAGTCGGAATATCACTCTTCAGATCTCAGAATGTTGAGGATGTCTCCTGACACTGTGCCAAAGGCTCCTAAACATTTAAAAGCAGGTACGTAGAAAAAGGAGATAGTAAATGTCCTACTTACGGATACCTTGTGAAAAAATATCTTGTTAGGTCTATCTAATTTTGTATTTTTTAATATCTATAATAATTATACTTCAGATTAGATGTGTTTATAAATCCTGTCTTAGTCTCTTTAGACTGCTATTACAAAAATATCTTAGTACTTTAAGTATGGCTTATAAACAACAGAAATTTGTTTCTTGCAGTTCTAGAGGCTGGTTCCAAGATCAAGTGCTGGGAGATTCAGTGTCTTGTGAGGGCCTGTTTGTCATAGATGACATGTTCCTCTGTGCCCTCCCATGGTGGAAGGGGCAGGGGGTCTCTCTGGAGTCGTTTTTTGTAATGGGCACTAATCCCAAACATGTGGCCTGTGTCCTCATGATCTAATTGCTTTCCAAAAGCCTTACCTCCTTAATTTCATCACCTTGGGGATTAGGATTTCAACCTATACTTTTCAGGGGGGACACAAACATTCAGACCATCACAAGTCCCCTGATGTTTTATTAGAGGAATCATTTGGTTTTTCATCGCATTCTACATGGCAGTGTTTAGAACTGAATTATATGGAGGAGTCTGATGTTAGAATCTGTTTATTCCTTTGTGTGACTTGAAGGGAAAAAGGAATTGATTGAGCCCAAGATGACAAGAGTGGATGCAGATAAGTTTGTAGAGAGGAAATTGAGAGAAATCAGTTTTGAGGTAAAAGCAAGATTATCTGCTGAGGGAGGTGAGTAGTGGTGGAATTAGGTTAGAGGCATTGAGGAGAGTGGTTTGGTGAAGACTTACAGTTTATGTTGAAGTGAATTTGAGATGGAGCTGACCAAGGGAAAGTAAAAGGATTGGAGGGCAGTTCTGAGAAGTCAGCTCAGGTTAGTGATAATGATTTTATAATATTGTCAGCCTGTATAGAATCTCTGATTTGTTTTTCCTGCTAACACTCAGGAATGGAGATGATGAATTACAGTATTGATCCTTGGTTCAGGAATACATTGAATGGGTATGGTAGAAGGATAGCAGTCAAAGAGAGAAGAGTTGATCACCTATTGGTTTCAGCCTACATAGGGAAAGAGAAGCCAGAAGAGTTGTTATTCTAGGAGAAAATAGAAGGACCAGAGATTTCTTTATGAAGTTGATTAGATGAGGTGGGAATAAGTTACTGAGAGCACTAGAAGAATAGGTAATTTTGGTCAGATTGAATAAGTAGATTTAAATGAGGATCAGTTTGAAGGGTGATGAAATCCATTAAATAGCCCTGGGATTGGATGGTAGAAATTGAATAAAAATTACTGGAGTAAATAAAATTTTGGGTCAGGTACAGTGTCTTATGCTTGTAATCTCAGTACTTTGGGAGGCTGAGGTGGGAGGATCACTTGGAAGAGTCTGGAAAGGATTGGTATTAATTGTTTTTGAATAGAATTTACTGTGAAACTACCTGGGCTGTTCTTTGTAGGAAGTTTTTAAATTGCTAATTTCATCTCTTTCCTTGCCATAAGTCTATTTAGATTTTATATTTTTCATGAATCAGCTTTTGCAATTTGTGTCTTAAATAGAATTTGTCCATTTAGCTAGGCTATCTGTTTACATATATCTGTTCATAATATTCCCATGTAATCTCTTTCATTTCAGTAAGGTTAGTTACAATGCCCTCTCTTTCATTCCTGATTTTAGTAACTTAAGTTTTCCCTTCTTTTGTTCTCCCTTTGGTGAATCTAGTTAAATTTTGTCAATTTTGCTGATTTTTTCAAATAAACTGGTTTCTTTATTTTTTTCTAATCTTTATTTTTCTTTTCTGATTTTTGTTTCATTTATTTTCATTCTAGTCATTATTTTTCCTTCCTTCCATTTGCTTTGGGTTTAGTTTGTGCTTTTATTCTGTTTTTTAAGGTGGACAGTTAGGTTATTGATTTAAGCTCTTTCTTCTTCTTATTACAAATATGTATACAAATTGATAAATTCCTAAGCACTGTGTTAGCTGCATGTCCTAAGTTTTGGTTTATTATATTTTTGTTTTAGTTCATCTAAACTTATTT | TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCCGCCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAACCAACGTGCCTGGCCGGTATTACCTACTTTAATAGTTCTATATTTTGAAACTTTAACATAATGAAATTTTTTTGACGTCAAGCTTGTAATAAAAATTTTTCTTTCTGTGTTTGAAAGCTGTAGAAGAAAAACTGCTGTAAACTATAAACACACACTGTCTCTCACAAGTGTCTATATATTATATATGGTCATGCCACATAATGATATTTCAGTTAGTGACAGACTGCATATATGATGGTAGTCCCATAAGATTAAAATACTGTATTTTTACTGTACCTTTCCTATGTTTAGATACACAAATGCCACTGTGTTACAGTTGCCTACAATATTTAGAACAGTAACATGCTGATAGGTTTGTATCCTGGAAGCAGTAGGCTAGACCATATAGCCTAGGTGTGTAGTAGGCTACACAGTTGTAGGTTTGTGTAAGTCACTCTGTGATGTTTGCACAACAACAAAATTGCCTGACAGCACATTTCTCAGAACATACCCACATCATTAAGTGATCTATGACTGCATATTATATATATGCATATATATTTATATATATTTATGTGTATGTATATATGTGTATATATATAGCCTGTACTTCAGAGAAGTTTCCTGTAGGAGTGAGGTAATTGAAAACTATGAACTTTGTGCTATGTGGAGAGCAGGGCTTCTTAGCAGCCTTATCATTTTGAGTTGGATAATTCTTTGTTATGGTGGGAGGCGTGTTTCCTGAGTATTGTAGGATGTTTTGCATCATCCATCCCTGGCCTCTATTCACTAGATACTAGTAACATCCCCTCCCCTCACAAGTTATGACAGCAAAAAATGTTTCCAGGCATTGTCAAATGTCCCTTGATGGGTACAAAATCTTCACAAGTTGAAAAGTAGAGAAACCTGTATGGGCAGTAGATGTAGATATAGAAATAGATATGGAATGTTCATTTCCACACTTCACATGGCTTCCTAAGAATGTTCATTACTACACAATGAAAAATTGATGAAAGAGGATAGAAAAATTCATGCTTATGTACATTTTTAGACTTCATCCTGAGAAGATGTGACTGAAATAATCTTTTTAGGGAAATAAAGACAATCTAAAAATGATATATATTTTTATGTGAGGGTGCACTGTGAATTTGGTGAAAAGTTGTACATGTTTAGGTATTAATGTCACCAATATTGGTTTCTAATTTCTTTTCTAGCAAGAACTTGTGACTTGATGAAACATTAGGAACTTCTTTTTGAGCAGTTACCCTTTACTTCACTACCAATTTATAGTTTCCACTACTTTTGTTTTAAGAAGTTTGAGGACTTATGCTTGTTGGTAACCGATCACAGTTATAGTTCTTTGATACTCTCATTTTTCTTCTAAACATTTGTGAGTTTCTAGAAAATATTCCTGTTTTCTTTTTCCTTCTTACTGTTTCTTGTCCACAGTGCACCTCTCTACCTTAAAAAGAAATACCTGAGCTTGTCCAGAATAATCCCATGGTTCAAATTCTGCGATGATCATAAGGAGCAAACTTCTGAGTAACAGAACACTTCTAAGCATACTATCTATAATATTTTATCTAGACAGATTTCTAAGCCCTCAGGATGATTTAGTCTTCTAGAGTTGACCCAATAAAATATGACCTATATATGAATTCAGAAGGTTTGAGATTATGATCTTAAGTAACTAGTATAACTTCTTAGTGTTCCTCTTTGTAAAAATGAAGGATTATTTTTAGCAGATGAGGTTTGAAATTAATATCTTATTTTCTTCATTTCTTCGTAGGTGGGTCATTCTAATCTGGGCATTAATGAGTCTTTTTCATTTTTATTGCCTTCATTTGTTCCACATAAGCCAACAAGAGAGTCGGAATATCACTCTTCAGATCTCAGAATGTTGAGGATGTCTCCTGACACTGTGCCAAAGGCTCCTAAACATTTAAAAGCAGGAGATAGTAAATGTCCTACTTACGGATACCTTGTGAAAAAATATCTTGTTAGGTCTATCTAATTTTGTATTTTTTAATATCTATAATAATTATACTTCAGATTAGATGTGTTTATAAATCCTGTCTTAGTCTCTTTAGACTGCTATTACAAAAATATCTTAGTACTTTAAGTATGGCTTATAAACAACAGAAATTTGTTTCTTGCAGTTCTAGAGGCTGGTTCCAAGATCAAGTGCTGGGAGATTCAGTGTCTTGTGAGGGCCTGTTTGTCATAGATGACATGTTCCTCTGTGCCCTCCCATGGTGGAAGGGGCAGGGGGTCTCTCTGGAGTCGTTTTTTGTAATGGGCACTAATCCCAAACATGTGGCCTGTGTCCTCATGATCTAATTGCTTTCCAAAAGCCTTACCTCCTTAATTTCATCACCTTGGGGATTAGGATTTCAACCTATACTTTTCAGGGGGGACACAAACATTCAGACCATCACAAGTCCCCTGATGTTTTATTAGAGGAATCATTTGGTTTTTCATCGCATTCTACATGGCAGTGTTTAGAACTGAATTATATGGAGGAGTCTGATGTTAGAATCTGTTTATTCCTTTGTGTGACTTGAAGGGAAAAAGGAATTGATTGAGCCCAAGATGACAAGAGTGGATGCAGATAAGTTTGTAGAGAGGAAATTGAGAGAAATCAGTTTTGAGGTAAAAGCAAGATTATCTGCTGAGGGAGGTGAGTAGTGGTGGAATTAGGTTAGAGGCATTGAGGAGAGTGGTTTGGTGAAGACTTACAGTTTATGTTGAAGTGAATTTGAGATGGAGCTGACCAAGGGAAAGTAAAAGGATTGGAGGGCAGTTCTGAGAAGTCAGCTCAGGTTAGTGATAATGATTTTATAATATTGTCAGCCTGTATAGAATCTCTGATTTGTTTTTCCTGCTAACACTCAGGAATGGAGATGATGAATTACAGTATTGATCCTTGGTTCAGGAATACATTGAATGGGTATGGTAGAAGGATAGCAGTCAAAGAGAGAAGAGTTGATCACCTATTGGTTTCAGCCTACATAGGGAAAGAGAAGCCAGAAGAGTTGTTATTCTAGGAGAAAATAGAAGGACCAGAGATTTCTTTATGAAGTTGATTAGATGAGGTGGGAATAAGTTACTGAGAGCACTAGAAGAATAGGTAATTTTGGTCAGATTGAATAAGTAGATTTAAATGAGGATCAGTTTGAAGGGTGATGAAATCCATTAAATAGCCCTGGGATTGGATGGTAGAAATTGAATAAAAATTACTGGAGTAAATAAAATTTTGGGTCAGGTACAGTGTCTTATGCTTGTAATCTCAGTACTTTGGGAGGCTGAGGTGGGAGGATCACTTGGAAGAGTCTGGAAAGGATTGGTATTAATTGTTTTTGAATAGAATTTACTGTGAAACTACCTGGGCTGTTCTTTGTAGGAAGTTTTTAAATTGCTAATTTCATCTCTTTCCTTGCCATAAGTCTATTTAGATTTTATATTTTTCATGAATCAGCTTTTGCAATTTGTGTCTTAAATAGAATTTGTCCATTTAGCTAGGCTATCTGTTTACATATATCTGTTCATAATATTCCCATGTAATCTCTTTCATTTCAGTAAGGTTAGTTACAATGCCCTCTCTTTCATTCCTGATTTTAGTAACTTAAGTTTTCCCTTCTTTTGTTCTCCCTTTGGTGAATCTAGTTAAATTTTGTCAATTTTGCTGATTTTTTCAAATAAACTGGTTTCTTTATTTTTTTCTAATCTTTATTTTTCTTTTCTGATTTTTGTTTCATTTATTTTCATTCTAGTCATTATTTTTCCTTCCTTCCATTTGCTTTGGGTTTAGTTTGTGCTTTTATTCTGTTTTTTAAGGTGGACAGTTAGGTTATTGATTTAAGCTCTTTCTTCTTCTTATTACAAATATGTATACAAATTGATAAATTCCTAAGCACTGTGTTAGCTGCATGTCCTAAGTTTTGGTTTATTATATTTTTGTTTTAGTTCATCTAAACTTATTTNNNNNNNNNNNNNN | pathogenic | 39,297 |
Evaluate this variant at chromosome 2, position 73448083, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CTTCTGACAGTTTGACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTC | CTTCTGACAGTTTGACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCATTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCN | pathogenic | 39,309 |
The chromosome 2, position 73448097 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTT | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGAC | benign | 39,312 |
Is the genetic variant on chromosome 2, position 73448097, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTT | ACATATATGTCCTTAACTTTATATAGAACTGACAAGAATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTNNN | benign | 39,313 |
Does the chromosome 2 mutation at position 73448133 within gene ALMS1 (ALMS1 centrosome and basal body associated protein) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Alstrom_syndrome'] | AATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGT | AATTCTTCTTTAACATCGTGCATCTCCTCCCTCGCTTTTAACAGCTTAACCTATAGTCGTTCTTCCAGTTTTCTTTACTAATCTTTTCCTTTACCCCTGAGGTTAAAAAGACCTTATCTTATGTAACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTNN | pathogenic | 39,316 |
Is the genetic mutation found on chromosome 2 at position 73448258, within the gene ALMS1 (ALMS1 centrosome and basal body associated protein), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Hearing_impairment', 'Leukodystrophy', 'Stage_5_chronic_kidney_disease', 'Visual_impairment'] | ACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTG | ACCTGGATCTTTCAAGGACCTGGGCTGTACATCTTAACTCCTTAGCTATTTATCTCATTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGN | pathogenic | 39,326 |
Variant at chromosome 2, position 73448315, gene ALMS1 (ALMS1 centrosome and basal body associated protein): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | TTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACAC | TTTGTCCCCATTCATGGTGTCACTAATAATTTGTAATGGCCAAAGGGATATAAAAACTTTGAGAAATCAGGAAATCATTTAGAAAAACAAGGTTTTGTTTTGTTAATCTGTTTTGGTTTATTAGCTTCTTGAGCCTGTTTTGTTTCCTCACAAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAAC | pathogenic | 39,329 |
Clinical classification of chromosome 2, position 73448466, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | AAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTT | AAAAACTTTTCTTATTTTCTTTAGACCCAGCAGGCAAGAACCTCACAAAATTTTGTAACTCATATTCCTTCTCAGGTTACAATGCATGTTACATTTTTAAATTTTTTACTTTTCTTGAAGAGTTAATACTTGATACTTCTAGTTCTTTACTTTGAAATTCACTCCTCAACCCATTTCATTCTATATTCAGCTCCTTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTN | pathogenic | 39,340 |
Evaluate the clinical significance of the mutation at chromosome 2, position 73448660 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Alstrom_syndrome'] | TTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAAC | TTTGAAGCTCGTCAGTGGCCATAGAAAGCCAGTCAGTTGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACNN | pathogenic | 39,352 |
Determine if the mutation at chromosome 2, position 73448697 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAA | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTA | pathogenic | 39,354 |
Evaluate this variant at chromosome 2, position 73448697, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome'] | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAA | TGTAGTGGAAAGAGCTCAGAACTTGGATTTAGAGTTTAAGGGTTAAAGTACCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAN | pathogenic | 39,355 |
A genetic variant at chromosome 2, position 73448747, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAA | CCAGTTTTTGTCACTTACCCACCTACAATTCTAGAAAAACTATGTATCTTTGCACTTAAAATGTGGTCTGAGGACCAATAACATTGGGCATCCCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTAACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCA | pathogenic | 39,359 |
Determine whether the variant at chromosome 2, position 73448839, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alstrom_syndrome'] | CCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTG | CCTGGGGAGCTTGTTAGAAATGCAGAATTTCAGGTCCCACCCAGACCTACTGAGTCAGAATCTGCAAGTTAACAAGATCCCAACATTGAGAAGCACTGTTACATGGTCATCTTTGCAACTCGGTTTCCCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGNN | pathogenic | 39,366 |
Regarding the variant found on chromosome 2 at position 73448966 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | CCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTAC | CCTATACGTAAAAAATAGATAATACTTGCTCTATATATCAATCATCTTAACACCATCTGACACATCATATGTTTTACCAATTTATTGTCAGCCTCCTCCTGCTAGAATACAAATTAGCTCTGTGAGGTAGGGATTATTGTCTGTTTATTGCTGTATGTAGAACAGTGCCTGGAACATAGTAAGCATTCATGTATTTTGAATGAACAATGAATGAAGGGACAGCTTGTCAAATCCTGTCATTTCTGTTGCAGTCACTTACTTTACACTGCTGTTTAAAACTGCTTTCATTTAGAATTATTGTATTAGTGCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACNN | pathogenic | 39,378 |
Regarding the variant at chromosome 2 and position 73449273, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTC | GCAAATATAGAACATTTCTATAGAAATGTTTGTTGGATTGTGCAACCTAGATTTTTACATTCCCTTCTCACTCATCTTGAAAACTTTAAAACTGTAAACAACTTGCCATGCTATACAGAATTAAGTTAAAACTCTTCAGAGTAACCTTTAGAGTTTTTTCAGTTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTT | pathogenic | 39,396 |
Is the genetic change at chromosome 2, position 73449435, within gene ALMS1 (ALMS1 centrosome and basal body associated protein) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome'] | TTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGA | TTTTATGTACTTAAATATATATATATTATACAGGGTGCATTTGTTGGGAGAGTCCTTCAAACTCACTGCACGCATAGCATCCCTCTAGGCCATATTGTACTGCCCCTGTGGGACTTGGGGGCAGGAGGAACCCGTGAAAATAAGCTGATGAGCCTTTGCTGTACCAGGGATCATGAAGTCTTTTGTCTCTGACTGAAGACCTTATGTCTTCTGCCAGCCTGCAAGACACAATAACAGATTGTAAGTAGGGTGAAATCAAATCCTAGACCCAATAGCATTATCCCATCTCATTGAAAATTCTCTTAAAAATCCAAGTTGTAAGATCCATATAATATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGANNNN | pathogenic | 39,408 |
Assess the variant on chromosome 2, position 73449768, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome'] | ATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGA | ATTTCATCCACTGGATATACTGTTGTTTATAACCATTACTCTGTTGTTGAAGATTAAAATGTTTTTACTTTAGTTTTCTAATTAATATCTTTGTGTGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGANNNNNNNN | pathogenic | 39,427 |
For chromosome 2, position 73449863, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Alstrom_syndrome'] | TGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGA | TGCAAATATTTATCTCCTTTGATGGCTGTTTCCTTAGGATTCATTTCTAGAAGCTTTTTAAAGGCTCAAAGCTGGCTTTTTTCCAGCACATAGAATTTTAAAATAGAAAATTTTATATACTATTAACAAATCTCTTTTTCTTTAGGAGACACTTCTAAAGGAGGCATAGCTAAAGTTACTCAATCCAACTTGAAGTCAGGCATCACTACCACTCCTGTTGATTCAGACATTGGATCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAN | pathogenic | 39,436 |
Regarding the variant found on chromosome 2 at position 73450097 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Alstrom_syndrome'] | TCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTT | TCTCATTTATCCTTGTCCCTTGAGGACCTGTCTCAGTTGGCTGTAAGTTCTCCTCTAGAAACTACTACTGGTCAACACACTGATACTCTCAACCAAAAGACATTAGCAGATACTCATCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTN | pathogenic | 39,449 |
Is the genetic variant on chromosome 2, position 73450213, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCA | TCTAACTGAAGAGACTCTGAAAGTCACAGCTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCANN | pathogenic | 39,452 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73450242—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alstrom_syndrome'] | CTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTT | CTATTCCTGAACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTNNNN | pathogenic | 39,455 |
Clinically, how would you classify the variant at chromosome 2, position 73450252, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Alstrom_syndrome'] | ACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCT | ACCAGCTGACCAGAAGACTGCAACACCAACAGTACTCTCTAGTTCCCACTCACATAGGGGGAAGCCCAGCATTTTCTACCAGCAGGGCTTGCCAGACAGTCATCTAACTGAAGAGGCTTTGAAAGTTTCAGCTGCTCCTGGACTAGCTGACCAGACAACTGGCATGTCAACTCTAACCTCTACTTCCTACTCACATAGAGAGAAGCCTGGTACTTTTTACCAACAAGAGTTACCAGAGAGTAACTTAACCGAAGAGCCTTTGGAAGTTTCAGCTGCTCCTGGCCCAGTGGAGCAGAAGACGGGAATACCTACAGTATCCTCTACATCCCACTCACATGTAGAGGACCTCCTCTTTTTCTATCGACAGACCTTGCCAGATGGTCATCTAACTGATCAGGCTCTGAAAGTCTCAGCTGTGTCTGGACCAGCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTNN | pathogenic | 39,457 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73450679—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | GCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATC | GCTGACCAGAAGACTGGGACAGCAACAGTACTCTCTACTCCCCACTCACATAGAGAGAAGCCTGGTATTTTTTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATAACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGAT | pathogenic | 39,482 |
Evaluate if the mutation on chromosome 2 at position 73450774 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | TCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGA | TCATCAAACTGAAGAGACTCTTACTAAAGTTTCAGCCACTCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAN | pathogenic | 39,495 |
Variant in ALMS1 (ALMS1 centrosome and basal body associated protein), chromosome 2, position 73450815—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Alstrom_syndrome'] | CTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAG | CTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACTCACAAAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGNNNN | pathogenic | 39,498 |
Evaluate if the mutation on chromosome 2 at position 73450873 in ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | AAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAA | AAGAGAAAAGCCTAGTATTTTGTACCCACAGGACTTAGCAGACAGTCATCTACCTGAAGAGGGTCTGAAAGTTTCAGCTGTTGCTGGACCAGCTGACCAGAAGACTGGCCTACCAACAGTACCCTCTAGTGCATACTCACACAGAGAGAAGCTCCTTGTTTTCTACCAACAGGCCTTGCTGGACAGCCATCTACCCGAAGAGGCTCTGAAAGTTTCAGCTGTTTCTGGACCAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACTTCCTCTGCGTCCTCTTCACTTGGAGAAAAGCCCAGTGCTTTCTATCAGCAGACCTTACCCAATAGTCATCTAACTGAAGAGGCTCTGAAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGGGATACCCTCAGCACCATCTAGTTTCTACTCACACAGAGAGAAGCCCATTATTTTTTCCCAGCAGACCCTGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAA | pathogenic | 39,504 |
Chromosome 2, position 73451340, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome', 'Intellectual_disability'] | TGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAG | TGCCAGACTTTCTTTTCCCTGAAGAAGCTCTGAAGGTTTCAGCTGTTTCTGTATTGGCTGCCCAGAAGACTGGGACACCAACAGTGTCCTCTAATTCTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCA | pathogenic | 39,529 |
Determine if the mutation at chromosome 2, position 73451436 in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | CTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAG | CTCACTCACATAGCGAGAAATCTAGTGTTTTCTACCAGCAAGAGTTGCCAGACAGTGATCTACCTAGAGAATCTCTGAAAATGTCTGCTATTCCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGNNNN | pathogenic | 39,537 |
The mutation in gene ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73451528—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome'] | CCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAA | CCTGGACTGACTGACCAGAAGACTGTCCCAACACCAACAGTACCTTCAGGTTCCTTCTCACATAGAGAGAAGCCCAGTATTTTCTATCAACAGGAGTGGCCAGATAGTTATGCAACTGAAAAGGCTCTGAAAGTTTCAACTGGCCCTGGACCAGCTGACCAGAAGACTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAN | pathogenic | 39,544 |
Assess the variant on chromosome 2, position 73451694, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype', 'Retinal_dystrophy'] | CTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTAT | CTGAGATACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTA | pathogenic | 39,554 |
Clinical classification of chromosome 2, position 73451700, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | TACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTAT | TACCAGCAGTACAGTCTAGTTCTTACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTA | pathogenic | 39,556 |
Regarding the variant at chromosome 2 and position 73451724, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | ACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTC | ACCCACAGAGGGAGAAGCCTAGTGTTTTGTACCCACAGGTGTTATCAGACAGTCATCTACCTGAAGAGAGTCTGAAAGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCNN | pathogenic | 39,559 |
Regarding the variant at chromosome 2 and position 73451800, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome'] | AGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCT | AGTTTCAGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTN | pathogenic | 39,565 |
Is the genetic variant on chromosome 2, position 73451806, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTT | AGCCTTCCCTGGACCAGCTGACCAGATGACTGACACACCAGCAGTACCGTCTACTTTCTACTCACAAAGAGAGAAGCCTGGTATTTTCTACCAACAGACCTTGCCAGAGAGTCATCTGCCTAAAGAGGCTCTGAAAATTTCAGTAGCTCCTGGACTAGCAGACCAGAAGACTGGCACACCAACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCCATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTN | pathogenic | 39,566 |
Is the genetic variant on chromosome 2, position 73451987, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome'] | ACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATG | ACTGTAACCTCAACTTCCTACTCACAACATAGAGAAAAGCCCAGCATTTTCCACCAGCAGGCCTTGCCAGGTACTCATATACCTGAAGAGGCTCAGAAAGTTTCAGCTGTTACTGGACCAGGTAACCAGAAGACTTGGATACCAAGAGTACTTTCTACCTTCTACTCACAAAGAGAGAAACCTGGTATTTTCTATCAACAGACCTTGCCAGGTAGTCACATACCTGAAGAGGCACAGAAAGTTTCACCTGTTCTTGGACCAGCTGACCAGAAGACTGGGACACCAACTCCAACCTCTGCTTCTTACTCACACACAGAGAAGCCTGGTATTTTCTACCAACAGGTCTTGCCAGATAATCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAGCTGTAACCTCTACTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGN | pathogenic | 39,578 |
Benign or pathogenic: chromosome 2, position 73452426, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | CTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTG | CTTCCTACTCACAATATAGAGAGAAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTT | pathogenic | 39,599 |
Variant on chromosome 2, at position 73452449, affecting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alstrom_syndrome'] | AAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGT | AAGCCCAGCATTTTCTACCAACAGTCGTTGCCAAGTAGTCATCTAACTGAAGAGGCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTN | pathogenic | 39,602 |
Variant in ALMS1 (ALMS1 centrosome and basal body associated protein), chromosome 2, position 73452503—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Alstrom_syndrome'] | GCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTG | GCTAAGAATGTTTCAGCGGTTCCTGGACCAGCTGACCAGAAGACTGTGATACCAATTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTGTTTTCTACCAACAGGTCTTGCCACATAGTCATCCAACTGAAGAGGCTCTGAAAATTTCAGTTGCCTCTGAACCAGTTGACCAGACAACTGGCACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGNN | pathogenic | 39,605 |
Chromosome 2, position 73452691, gene ALMS1 (ALMS1 centrosome and basal body associated protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCG | CACACCAACTGTAACCTCTACTTCTTACTCACAACATACAGAGAAGCCGAGTATTTTCTACCAACAGTCGTTGCCAGGTAGTCATCTAACTGAAGAGGCTAAGAACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGGGATACCAACTTTACCCTCTACTTTCTACTCACACACAGAGAAGCCTGGTAGTTTCTACCAACAGGTCTTGCCACATAGTCATCTACCTGAAGAGGCTTTGGAAGTTTCAGTTGCTCCTGGACCAGTTGACCAGACGATTGGCACACCAACTGTAACCTCCCCTTCCAGCTCATTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAAATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGN | pathogenic | 39,612 |
Considering the genetic mutation at chromosome 2, position 73453007, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Alstrom_syndrome'] | TTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGC | TTTGGAGAGAAGCCCATTGTTATCTACAAACAGGCCTTTCCAGAGGGTCATCTACCTGAAGAGTCTCTGAAAGTTTCAGTTGCTCCTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCNNNN | pathogenic | 39,629 |
Clinical impact (benign or pathogenic) of the variant at chromosome 2, location 73453092, gene ALMS1 (ALMS1 centrosome and basal body associated protein): what disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | CTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCT | CTGGACCAGTTGGCCAGACAACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTNNNN | pathogenic | 39,635 |
Does the variant on chromosome 2 at location 73453112 affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Alstrom_syndrome'] | ACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCC | ACTGGCGCACCAACTATAACCTCTCCTTCCTACTCACAACATAGAGCAAAGTCTGGCAGTTTCTACCAACTGGCATTGCTAGGTAGTCAAATACCTGAAGAGGCTCTCAGAGTTTCTTCTGCTCCTGGACCAGCTGACCAGACAACTGGCATACCAACCATAACCTCTACTTCCTACTCATTTGGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCN | pathogenic | 39,636 |
Evaluate this variant at chromosome 2, position 73453295, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome', 'Stickler_syndrome'] | GGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGG | GGAGAGAAGCCGATTGTTAACTACAAACAGGCCTTTCCAGATGGTCATCTACCTGAAGAGGCTCTGAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGN | pathogenic | 39,644 |
Variant chromosome 2, position 73453360, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease(s)? | pathogenic; ['Alstrom_syndrome'] | GAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTT | GAAAGTTTCCATTGTTTCTGGACCTACTGAAAAAAAGACTGACATACCAGCAGGACCTTTAGGTTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTN | pathogenic | 39,647 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73453423: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | TTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATC | TTCCAGTGCACTTGGAGAGAAGCCCATTACTTTCTACCGGCAGGCTCTGCTAGACAGTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCN | pathogenic | 39,651 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73453479—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alstrom_syndrome'] | GTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTC | GTCCTCTAAATAAAGAGGTTGTGAAAGTTTCAGCTGCTCCTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACTAGCTACTCAAATAGGGGGAAGCCTGTCATTTTCTACCAGCAGACCCTATCAGACAGTCATTTACCTGAAGAAGCTCTGAAAGTTCCACCTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCNNNN | pathogenic | 39,653 |
The chromosome 2, position 73453653 genetic variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Alstrom_syndrome'] | CTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGG | CTGTTCCTGGACCAGATGCCCAGAAGACTGAGACACCATCAGTATCCTCTAGTTTATACTCATATAGAGAGAAGCCCATTGTCTTCTACCAACAGGCCCTGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAG | pathogenic | 39,661 |
Is the chromosome 2, position 73453752 variant in ALMS1 (ALMS1 centrosome and basal body associated protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Alstrom_syndrome'] | TGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATT | TGCCAGACAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGATGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTN | pathogenic | 39,665 |
A mutation at chromosome position 73453759 on chromosome 2 in gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Alstrom_syndrome'] | CAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTC | CAGTGAGCTAACTCAAGAAGCTCTGAAAGTTTCAGCTGTTCCTCAACCAGCTGACCAGAAGACTGGGTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTT | pathogenic | 39,666 |
Determine whether the variant at chromosome 2, position 73453825, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alstrom_syndrome'] | GTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAAT | GTTATCTACTGTAACTTCCTCTTTCTATTCACATACAGAGAAGCCTAATATTTCTTACCAGCAAGAGTTGCCAGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATNN | pathogenic | 39,671 |
Evaluate this variant at chromosome 2, position 73453897, gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTG | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTGNN | pathogenic | 39,673 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73453897—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGATAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTG | AGATAGTCATCTAACTGAAGAGGCTCTGAAAGTTTCAAATGTTCCTGGACCAGCTGACCAGAAGACTGGGGTATCAACAGTAACCTCTACTTCCTACTCACACAGAGAGAAGCCCATTGTTTCCTACCAGCGAGAGTTGCCGCATTTTACTGAAGCAGGTTTGAAAATTTTAAGAGTTCCTGGACCAGCTGACCAGAAGACTGGAATAAACATCCTGCCCTCTAATTCCTACCCACAGAGAGAGCACTCTGTCATTTCTTATGAGCAGGAGTTGCCAGATCTTACTGAAGTAACTTTGAAAGCAATAGGGGTTCCTGGGCCTGCTGACCAGAAGACTGGGATACAAATAGCATCCTCTAGTTCCTACTCAAATAGAGAGAAGGCCAGTATTTTTCATCAGCAGGAGTTGCCAGATGTTACTGAAGAAGCTTTAAATGTTTTTGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAACAGTACCTTTAAGTTACTACTCACGTAGAGAGAAGCCCAGTGTTATCTCTCAACAGGAGTTGCCAGACAGTCATCTCACAGAAGAGGCTCTGAAAGTTTCACCTGTTTCTATACCAGCAGAGCAGAAGACTGGGATACCAATAGGACTGTCTAGTTCCTACTCACATTCACATAAAGAGAAACTCAAGATTTCAACTGTGCATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACCCTTAGTTCCTACTCACAAATAGAGAAGCCCAAGATTTCAACTGTGATTGGACCAAATGACCAGAAGACTCCATCCCAGACAGCTTTTCATAGTTCCTATTCTCAAACAGTAAAGCCCAATATTTTATTTCAACAGCAGTTGCCAGATAGAGATCAAAGTAAAGGTATTCTAAAGATTTCAGCTGTCCCTGAACTAACTGATGTGAATACTGGAAAACCAGTATCTCTCTCTAGTTCTTATTTTCACAGAGAGAAATCGAATATTTTCAGTCCACAGGAATTGCCAGGTAGTCATGTAACTGAAGATGTGCTGAAGGTTTCAACAATTCCTGGACCAGCTGGCCAGAAAACAGTATTACCAACAGCTCTTCCTAGTTCCTTTTCACATCGAGAGAAACCAGATATTTTCTATCAAAAGGATTTGCCAGATAGACATCTAACTGAAGATGCTCTAAAGATCTCAAGTGCTCTTGGGCAAGCTGATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTACTCACATGGTGAGAATCACAAGCTTGTTTCAGAACATGTCCAAAGGCTAATAGATAATTTGAATTCTTCTGACTCCAGTGTTAGCTCAAATAATGTGCTTTTAAATTCTCAGGCTGATGACAGAGTTGTAATAAATAAACCAGAATCTGCAGGTTTTAGAGATGTTGGCTCTGAAGAAATCCAGGATGCAGAAAATAGTGCTAAAACTCTTAAGGAAATTCGGACACTTTTGATGGAGGCAGAAAATATGGCACTGAAACGATGCAATTTTCCTGCTCCCCTTGCCCGTTTCAGAGATATTAGTGATATTTCATTTATACAATCTAAGAAGGTGGTTTGCTTCAAAGAACCCTCTTCCACGGGTGTATCTAATGGTGATTTGCTTCACAGACAGCCATTCACAGAGGAAAGCCCAAGCAGCAGGTGCATACAGAAGGATATTGGCACACAGACGAATTTGAAATGCCGGAGAGGCATTGAAAATTGGGAGTTTATTAGTTCAACTACAGTTAGAAGTCCTCTACAGGAAGCAGAGAGCAAAGTCAGTATGGCATTAGAAGAAACTCTTAGGCAATATCAAGCAGCCAAATCTGTAATGAGGTCTGAACCTGAAGGGTGTAGTGGAACCATTGGGAATAAAATTATTATCCCTATGATGACTGTCATAAAAAGTGATTCAAGTAGTGATGCCAGTGATGGAAATGGTTCCTGCTCGTGGGACAGTAATTTACCAGAGTCTTTGGAATCAGTTTCTGATGTTCTTCTAAACTTCTTTCCATATGTTTCACCCAAGACAAGTATAACAGCAGGGAGGAAGAGGGTGTGTCAGAGAGTGAGGATGGTGGTGGTAGCAGTGTAGATTCACTGGCTGCACATGTGAAAAACCTTCTGCAATGTGAATCCTCACTGAATCATGCTAAAGAAATACTCAGAAATGCAGAGGAAGAGGAAAGCCGGGTACGAGCACATGGTAAGAAGAAAGTTTCAGGCTTATAAACGTTATAGTTTAATAATGTGTTTAAAGTTAGATATTTATGTTTTGAGGAAGCTTAGCCAATGAAAAATACAAGCAAGATCAAGAAAAAAAATGAAGTTAGATATTTGGAGTTCTAAATGTATTTTCCAATAGAATTGTTAGAATGACTATATTTCTTCTAACAATCCATAAAAAGCCTATTTAACCAATAATGTAGTTAAGTTACAGTATTAATAGTACCAGCCTGAGTTTACGTTCTTGTTCTTAGGAGAAGTAGATTCTGATGTATGACAGAGAGTAAAGAGGTCGCTTGGGCTCCTGAGCTCCTAAAGCTATCACGTTTCTCTAATCCTCCCATTATAGTATCCTTATTCTGAAGGCAGAAAGAGCCTCCAATTTGCTGTGCTCTAAATTGCTTTTTGTCCTAAAACTACATATATTTTCTCTTTCCCTTTTCTAATAGAACTCTTGGTGTTGATCTCAGACATTTGAAAAAAAAATCAATGTATTTTATACTAAAACTTGGGTTAGAGGTTTAAAAGAGAATATTTACAAATCTCATTAATTTCTAATAGAATTCCATTAAAAACAAAAATCTGTAAGACAATATGGGGAATATATTTTGGGAGGCAATTTAAAAGCAATTTAGGCCTACCTAGAAATCGTCCCTTGAGGTTAACTTCCTACGCTGTTCCCTGCACATTTTTATTCTACAAAAAAACCTCCAAGTTGTATTTATTACTTTTAAATATCAGCTGTCATGGAATTATGAGTAATTGTAGCAGGAACTAAAGGGAGAGGTAAAGAAACTCATGATTAAAAGGAGGATTAAGATAAATATGATTGATTACCCGATTTAAAGTGGCTTTTTTGTAGAATTATCTATAGAGCATGACTTAAGAAAATCAGACTTTGCAGTGAAAGGATCTCTGTCAAGAATTTCTAATAGGTTGTCATAATTGAGAAGAAGACATACTAAGCATTGCAGTGGGTATTAAATTGCATATATTGATGATCTTCTGTGTTGCAATTGTTGACAAATTATCACTTTTGCATTGTATTATCTCAAGTGTATGCTTTCTCTCCAGCCTGGAATATGAAGTTCAATTTAGCACATGATTGTGGATACTCCATTTCAGAATTAAATGAAGATGACAGGAGGAAAGTAGAAGAGATCAAGGCAGAGTTATTTGGTCATGGAAGAACAACTGACTTGTCCAAGGTATAAAAGAAATCTGGAAATGAAGAAAGTAAATATGAAAGAATGGGTGATGGAATTAGGATCTCTTACTTGGGCATCAGTTGAGTTGCTGATAATATTTGGCTAAAGCCTTTTTTGGTTTTGTTTTTGAGACAGTCTTGCTCTGTTGCCCAGGCTGAAGTGCAGCAGTGCAATCACAGGTCACTGCAGCCCTGAACTCTTAGACTCAAGGAATCCTCCCACCTCAGCCTCTCAGGTAGCTGGGACCACATGTGTGTACCGCCCTGCTCGGCTAATTTTTAAATTTTTGGCAGAGACAGGGTCTCTACGTTGCCCAGGCTGGTCTTGAACGCTTGGATTCAAGCGATCCTCTTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGTGCCTAGGCAGGCATCTTAATTTTTCAAAAGTTAAGATATAAGTATTAGATTCTTACAGTCTAGATATGTTGTTTTTATTGATTCCAAATTCATATTTTGAAAAATTTATCTTCTTAGAAAAATAAGAACTGATTTGCTTGTTTTATCAATTTTTTTTTTAAGAACAGAGAAGACTAAATGTCACCCTTATTTTCTCTTGAAAGTGGTATCTTGAAATCCAGCTATTTTCAAATGTTTATTTTAAATACTTGNNNN | pathogenic | 39,674 |
Gene mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) at chromosome 2, position 73489783—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Alstrom_syndrome'] | TCATCGAGTGGCAGAACAGTTTTCAGGAGACCCAAAGTGGGTAGCTCCTTTCTGCAGGCAGGTCATCCTGATGACTGTCCATCTGTCAGTGGAGAGGAGAACCTAGAGTGGGTAGCTCCTACCTGCATGCAGGTCATCCCATAATCTGCATCTTTCAGCAGAGAAGAGACCCGGAGTGGCTAGCTCCTATCTGCAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTT | TCATCGAGTGGCAGAACAGTTTTCAGGAGACCCAAAGTGGGTAGCTCCTTTCTGCAGGCAGGTCATCCTGATGACTGTCCATCTGTCAGTGGAGAGGAGAACCTAGAGTGGGTAGCTCCTACCTGCATGCAGGTCATCCCATAATCTGCATCTTTCAGCAGAGAAGAGACCCGGAGTGGCTAGCTCCTATCTGCAGGCAGGTCATTCCATTGTCTCTCCAAGTCTGGCTGAGTCCAGGGTTTTTATGGGCTTCAAAGGGGAGGAGATGCATGCCAATTGGTCCATGGGCAGGCCCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTN | pathogenic | 39,706 |
Is the variant located on chromosome 2 at position 73490076, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Alstrom_syndrome'] | CCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTT | CCGGAAAAAGCACTATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGGCCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTN | pathogenic | 39,718 |
Assess the variant on chromosome 2, position 73490089, impacting ALMS1 (ALMS1 centrosome and basal body associated protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Alstrom_syndrome'] | TATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCC | TATAAGTTCTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCN | pathogenic | 39,719 |
Considering the variant on chromosome 2, location 73490097, involving gene ALMS1 (ALMS1 centrosome and basal body associated protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Alstrom_syndrome'] | CTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTA | CTCCTTTCTGCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTANNNNNNNN | pathogenic | 39,720 |
The genetic variant at chromosome 2, position 73490106, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | GCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGC | GCGAAACTGGCAGCCCTTCAACCCATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTG | pathogenic | 39,722 |
Benign or pathogenic: chromosome 2, position 73490129, gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant? Disease(s) if pathogenic? | pathogenic; ['Alstrom_syndrome'] | CATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATG | CATCCCTGGCTTAAAGGTGGAGCTTCACTGGTGACCTGCCCCTTTCTGCCCAGGAGCCTGTCTGCCATCTCTGCCATCTACGGTACCCATGGCACACCCAGGCTGTTTATGTCAGGGGGCGCCTGCAGGCCCACTCTGAGCTGCCCTCAGCCCTCCCTGCCCCTGCAACCTCCCTCCTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGNNNNNNNNNNN | pathogenic | 39,724 |
Regarding the variant at chromosome 2 and position 73490305, affecting gene ALMS1 (ALMS1 centrosome and basal body associated protein): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Alstrom_syndrome', 'Retinal_dystrophy'] | CTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTA | CTGTGCTTGTGGGTGCCCAGTGTCTGGAGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTANNNN | pathogenic | 39,733 |
Is the genetic variant on chromosome 2, position 73490332, gene ALMS1 (ALMS1 centrosome and basal body associated protein), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | AGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTA | AGGGGCGGCAGGGGGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTAN | pathogenic | 39,735 |
Determine whether the variant at chromosome 2, position 73490345, in gene ALMS1 (ALMS1 centrosome and basal body associated protein) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGAT | GGCTGGTGTGACAGTGCTGTCCCAAGTGTGCGCACACCTGGCTGGGTCGCAACAGTGCCTGGACTTGGCCTCAACTTTGCTGTGTAATTGGAGCGGGAACCAGGAGTGGGGAGAGGCCTGGCAGTGGGAGCAGGCACTTCTGAGCCTGCAGGGGCAGGGGGAGTTCCCAGATCCCCGAAAGTGCAGTGGTGCCTGGGTCTACAGCTGTGACTGGGCAGCTGCAGCTGTGCCCAGGAGGGTGGGGTTCCTGCCCCTCCAACTCAGAAGGGAGTGGGGCTTCTGCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGA | pathogenic | 39,736 |
Does the genetic variant at chromosome 2, position 73490626, impacting gene ALMS1 (ALMS1 centrosome and basal body associated protein), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Alstrom_syndrome', 'Cardiovascular_phenotype'] | GCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCA | GCCTGTTCCTGGCTCCCACCACCTCAGTACAGCGAGTAGCCCTAGCTGTTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCANNNNN | pathogenic | 39,754 |
Variant in gene ALMS1 (ALMS1 centrosome and basal body associated protein), located at chromosome 2 position 73490674: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Alstrom_syndrome'] | TTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTGC | TTCCTTCCCCACTGCAGCTGGCATCATTGCAGCAGCCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTG | pathogenic | 39,756 |
Gene ALMS1 (ALMS1 centrosome and basal body associated protein) variant at chromosome 2, position 73490709—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Alstrom_syndrome'] | CCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTGCCATAGAGATCAGTAATGATACCTTTAAAATTTTTT | CCACTCCAGATGGGATGCCGCTGCCATCAAAAATATATCTACTCCATCACCTGGGGAGATGCAGCATAATTTAAAATATTTTTATCTGAAATCAGATGTTGCTATATCATCAAATAGAATGCCAAGTTATAATGACTGTATAGGTAAAATACAGAAATCTCAAAGAAATGTTATATTTATGGTAGCTTTGAGTACTGATCCTATGCGCCAGGAAACAAGGTCTTGGTTTTTTCCCCCCATTGTTAGGGGTAAAATATTAGGATGTAGGTCAAGCTTCTGTAATAGCCAAACATAGAGTGGCTCAAATAAGATAGAATTTTATTTTTTCACGTCATTGTTCATGTTAGGAAAGTGAGCTCTGTTCCTTGATGTCATCCAGGGACCCAAGCTGGCTGGACAACTAAGCTGTCTTACACATGACTTCCAAGGTTGTTCCATGCATTACCATTTTCAGGAGGCAAGAAAAATAGTGATGATAGTGGTGGTGATATTGGGGGAACATGCAGGTCAAGAACTTGATTTTAAGGACAGGAAGCAGAAGTTGTACTTGATGCCTTCATTCATATCCCATTGGTGTCAGTCTAGTAATGTGGTTACAACTAGCTGCAGAAGAAACAGGAAATGTCTCCCACTTGGTGGCTATGTGGCCAGCAAAAATTTGAGTAAGGCATTTCTATTATTAAAAGAAAGGTGAGAATACTTACTGGTGGACAATAGTAATCTTTGCTGTTTACTTTAGTGGAAATTTTTTAGAAGAACTCTCTGAGTGGTCTTAATCATTGTGAGCCATTTTATTCTGTAGTTAACTGTCTTTTTTGCTTGCTGTGCTCTTTGTCCTGTTATATTATAAAAGAATGACATGACCTTCATGGTCTAATCTTAGCGTGGGTATAAAACTGATTTGTATAAAACTGATTTGTTTATAACTACTTGGACTACTTCAAATAAGAACCTGTTTGTTTGTATCTTCTAGGGTTTACAGAGTCCACGGGGAATGGGATGCAAGCCAGAAGCTGTATGTAGTCACATTATTATTGAGAGCCATGAAAAGGGATGTTTCCGGACTCTAACTTCTGAACATCCACAACTAGATAGACACCCTTGTGCTTTCAGATCTGCTGGACCCTCAGAAATGACCAGAGGACGGCAGAACCCATCATCATGCAGAGCCAAGCATGTCAACCTTTCTGCATCCTTAGACCAGAACAACTCCCATTTCAAAGTTTGGAATTCCTTGCAGTTAAAAAGTCATTCCCCATTTCAGAACTTTATACCTGATGAATTCAAAATCAGCAAAGGTCTTCGAATGCCATTCGATGAAAAGATGGACCCTTGGCTGTCAGAATTAGTAGAACCTGCTTTTGTGCCACCTAAAGAAGTGGATTTTCATTCTTCATCACAAATGCCGTCCCCAGAACCCATGAAAAAGTTTACTACCTCCATCACTTTTTCATCTCACCGACATTCTAAATGCATTTCCAATTCCTCTGTTGTTAAGGTTGGTGTTACTGAAGGTAGCCAGTGTACTGGAGCATCTGTGGGGGTATTTAATTCTCATTTCACTGAAGAACAAAATCCTCCCAGAGATCTTAAACAGAAAACCTCTTCCCCTTCATCATTTAAAATGCATAGTAATTCACAAGATAAAGAAGTGACTATTTTAGCAGAAGGTAGAAGGCAAAGCCAAAAATTACCTGTTGATTTTGAGCGTTCTTTTCAAGAAGAAAAACCCTTAGAAAGATCAGATTTTACAGGCAGTCATTCTGAGCCCAGTACCAGGGCAAATTGTAGCAATTTCAAGGAAATTCAGATTTCTGATAACCATACCCTTATTAGCATGGGCAGACCAAGTTCCACCCTAGGAGTAAACAGATCGAGTTCCAGACTAGGAGTAAAAGAGAAGAATGTAACTATAACTCCAGATCTTCCTTCTTGCATTTTTCTTGAACAACGAGAGCTCTTTGAACAAAGCAAAGCCCCACGTGCAGATGACCATGTGAGGAAACACCATTCTCCCTCTCCTCAACATCAGGATTATGTAGCTCCAGACCTTCTTGCATTTTTCTTGAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGTAGATCATCAAATGAGAGAAAACCATTCTCCCCTTCCTCAAGGTCAGGATTCTATAGCTTCAGACCTTCCGTCTCCCATTTCTCTTGAACAATGCCAAAGCAAAGCGCCAGGTGTAGATGACCAAATGAATAAACACCATTTTCCCCTTCCTCAAGGTCAGGATTGTGTAGTGGAAAAGAATAATCAACATAAGCCTAAATCACACATTTCTAATATAAATGTTGAAGCCAAGTTCAATACTGTGGTCTCCCAGTCAGCCCCAAATCACTGTACATTAGCAGCATCTGCATCTACTCCTCCTTCAAATAGAAAAGCACTTTCTTGTGTTCATATAACTCTTTGTCCCAAGACTTCTTCCAAGTTGGATAGTGGAACTTTAGATGAAAGATTCCATTCATTGGATGCTGCTTCTAAAGCGAGGATGAATAGTGAGTTTAACTTTGACTTACATACTGTATCTTCGAGATCACTGGAACCAACCTCCAAATTATTGACCAGTAAACCTGTAGCACAGGATCAAGAATCTTTAGGTTTTCTAGGACCTAAATCTTCACTGGATTTCCAAGTCGTACAGCCTTCTCTTCCAGACAGTAACACTATTACTCAGGACTTGAAAACCATACCTTCTCAGAATAGCCAGATAGTAACCTCCAGGCAAATACAAGTGAACATTTCAGATTTCGAAGGACATTCCAATCCAGAGGGGACCCCAGTATTTGCAGATCGGTGAGTCTCATTGTGATAACAAGCAAGCTGGATGGACTTTGTAATAAAGGGTTTCAAATACTTAAGTAGATATCGGTTCTTGGGGGAAAGGCCGTGTGATTTCTCTGAGTGGAGGTTGTGTCTGGCTAATTACTAGAAGTCTTTCAAGGAATAAATGTGTTAAGTAAGAGAGAACATGTGACAGTAATGCATTTATATTTCAGAGGGCTTTTGGCAAGACTTGACATCAAGTGTTTTTAAAAATTGAATGACCTTGAAAAGAATCTTTGATCATCCAATGATACAATTACGAATTTATTTACTGTGTTGGACATATGCTGAAGATCTCCTTTGGAGGTTGCACACACATACATGGGTGCTTGGTCACTCTCTCTCCCGCTCTCCCTCTCTCTCTCTCTTCTCCAGCTCTCTGGTTCCATTTCATGACTTCCCTCAAATATTTAGTATTTACAAAGAAAGTGGCTTTACAGTGGAAAATCCTGGCAGATACCAGTTTAGTCAAATGATGAAGATTAGCATCGCCAGTAAAACATCTGTCAACATAATGTGCTCCCTGATATGATGCCCCACCTCATAGAGTATTGTAGGAAAGGAAACCCAATTCAGGGATAAGTTCGTTAGATTTATATTATTCAGCCCAATTTTAGCACATTGCCATTAATTCAGTTTTACTTAATGAGCCTCTTATGATATGGTGAAGCAGAACTACCTGTATGTTTAGTATTTTACCTTATAGTTGAAGAGGCATCGTACCACAGTGGAGAGCGCTAGGCTTGGAAAGGAGGAAGAAAGAAATGTTTATTCATAATCTACATGTGGTAGTAGTCATGGCAATAAGGAACTTAGATATGCTATCCTACTTAGTTCTCATCATGATCCTATGAAGCAGGTGATGATATCTCTATTTTCCTACTGGGAAATCTTTTGTGCCAAAAGATGTTGTTTGTGGGCAAGAGAAAGAGCATTCAAATGCATTCTGTTTAATCAGAGTAAGGATTTGTTCCTCTACACAGTACTCTGTCCTAGAATTTGAACCCTAATTCCAACACTTCCAACCATGATGCTGGACAACTGATTTAATATCCTTGGCACTCATATGTAGAAGGAAAGGGTTGGAATGCTGAAAAGTCCCTTATAGCTCTAAAAGTTAGGGATTGAGATAATAGATTGGGGCAAAAAAACAAGGTCAATCTCTGATTTCAATGTTAAAAATAGTAGAGTGCCATAGAGATCAGTAATGATACCTTTAAAATTTTTTNNNN | pathogenic | 39,761 |
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