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 |
|---|---|---|---|---|---|
Is the chromosome 17, position 17226319 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCTTTATTTGAGATGGAGTCTCGCTCTTGTCACCCAGGCTGGAATGC... | CAGTGGGGGCCATGAGAGCCGAAGACTGTACTCTTCTGCTCCTGTGATCAAGCTTCCAACAACACTTGTCATTGTGGACTGCAAGGGCCGGTAACAAGGCTTATTGCTTTTCTTCCACCTTGAGCCATAAATAACTCCCATGCATATGTCACACCTCTCCCAGACTCAAATGTACCAGCTTACTCACCTGGAGCATGCAGAAGAACCAGCAGGTCAGAGCAGCCACTGCACTCTCCCTGCACTGAAATCCGCACATTTTATTCTTTCTTTCTTTCTTTATTTGAGATGGAGTCTCGCTCTTGTCACCCAGGCTGGAATGC... | pathogenic | 265,462 |
Gene FLCN (folliculin) variant at chromosome 17, position 17227895—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | CTCCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCAC... | CTCCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCAC... | pathogenic | 265,475 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 17227897, gene FLCN (folliculin): what disease(s) if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | CCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAA... | CCAGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAA... | pathogenic | 265,476 |
Considering the variant on chromosome 17, location 17227899, involving gene FLCN (folliculin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome'] | AGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGG... | AGTCTGGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGG... | pathogenic | 265,477 |
Does the variant impacting FLCN (folliculin) on chromosome 17, position 17227904, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | GGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCAC... | GGACGACAGAGCGAGACCCTGACACAAAAGAAGGAAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCAC... | pathogenic | 265,480 |
The mutation in gene FLCN (folliculin) at chromosome 17, position 17227938—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGG... | AAAAAAGAAAACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGG... | pathogenic | 265,492 |
Is the chromosome 17, position 17227948 variant in FLCN (folliculin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma'] | ACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGA... | ACAATAATAATAAAGAAAGGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGA... | pathogenic | 265,494 |
A mutation at chromosome position 17227966 on chromosome 17 in gene FLCN (folliculin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | GGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGG... | GGACAAATAATAAAAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGG... | pathogenic | 265,500 |
Determine whether the variant at chromosome 17, position 17227979, in gene FLCN (folliculin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | AAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCT... | AAGTTCGGTGCTTAAAGTGCAAAAGCTAGCACTCAATCAGAAAATGCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCT... | pathogenic | 265,502 |
Mutation found at chromosome 17 position 17228024, gene FLCN (folliculin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | GCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGG... | GCTCAGCAAGTCCAACATGACTCCTCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGG... | pathogenic | 265,509 |
Is the genetic variant on chromosome 17, position 17228048, gene FLCN (folliculin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Birt-Hogg-Dube_syndrome'] | TCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCA... | TCCCGCAATTCTGGACAAGGGAGGCGTCCTGTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCA... | pathogenic | 265,515 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 17228078, gene FLCN (folliculin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'FLCN-related_disorder', 'Hereditary_cancer-predisposing_syndrome'] | GTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCT... | GTACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCT... | pathogenic | 265,524 |
Clinical significance of chromosome 17, position 17228079, gene FLCN (folliculin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Hereditary_cancer-predisposing_syndrome'] | TACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTG... | TACCCTGTGCTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTG... | pathogenic | 265,525 |
Considering the variant on chromosome 17, location 17228088, involving gene FLCN (folliculin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Birt-Hogg-Dube_syndrome', 'Birt-Hogg-Dube_syndrome_1', 'Potocki-Lupski_syndrome'] | CTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTGTTAGTTGGG... | CTGTGCTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTGTTAGTTGGG... | pathogenic | 265,528 |
Clinically, how would you classify the variant at chromosome 17, position 17228093, gene FLCN (folliculin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Birt-Hogg-Dube_syndrome_1', 'Colorectal_cancer', 'Familial_spontaneous_pneumothorax', 'Hereditary_cancer-predisposing_syndrome', 'Nonpapillary_renal_cell_carcinoma'] | CTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTGTTAGTTGGGAAGCA... | CTGATCTGCGGGTCCGCCCTGAGAGAGGACCAGTGCCTGCCTCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTGTTAGTTGGGAAGCA... | pathogenic | 265,531 |
Benign or pathogenic: chromosome 17, position 17228134, gene FLCN (folliculin) variant? Disease(s) if pathogenic? | pathogenic; ['Hereditary_cancer-predisposing_syndrome'] | TCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTGTTAGTTGGGAAGCAGGGCGACAAACTCTCTTAGGTTTATGCAAATCTGAGCTCGG... | TCCCTGTGCAATGCTGGCTCCGAGCCCACCCAGAGCACCTGGGAGCATGTGGGCTCCCACAGAGACAGGCTCTGTGGCCACAAGGCTCACCTCACAGCTCAGGCTCCGGACACAGGCCTGGCGGACAATGCTGAAGAGCTGGGGGTGGCTGGGGTGCTGGTGGCTGACGTATTTAATGGAGGTCTCTTTATCATGGCTGATATATCCCGGGTGCCCTGCAGCAAGTGACCGGCAGCCCTGTCCATGAAAAGGAAAAGTAAATCTGTTAGTTGGGAAGCAGGGCGACAAACTCTCTTAGGTTTATGCAAATCTGAGCTCGG... | pathogenic | 265,541 |
A mutation at chromosome position 17793779 on chromosome 17 in gene RAI1 (retinoic acid induced 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,599 |
Is the variant located on chromosome 17 at position 17793779, gene RAI1 (retinoic acid induced 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,600 |
Variant at chromosome position 17793779, chromosome 17, gene RAI1 (retinoic acid induced 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,601 |
Is the chromosome 17, position 17793779 variant in RAI1 (retinoic acid induced 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,602 |
A genetic variant on chromosome 17, position 17793779, affects the gene RAI1 (retinoic acid induced 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,603 |
Is the genetic mutation found on chromosome 17 at position 17793779, within the gene RAI1 (retinoic acid induced 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,604 |
Is the genetic mutation found on chromosome 17 at position 17793779, within the gene RAI1 (retinoic acid induced 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,605 |
Variant in RAI1 (retinoic acid induced 1), chromosome 17, position 17793779—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,606 |
Chromosome 17, position 17793779, gene RAI1 (retinoic acid induced 1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,607 |
Gene RAI1 (retinoic acid induced 1) variant at chromosome 17, position 17793779—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | CATTCCTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTG... | benign | 265,608 |
Classify the chromosome 17 variant at position 17793784 affecting gene RAI1 (retinoic acid induced 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | CTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTGGGCTG... | CTCTTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTGGGCTG... | benign | 265,609 |
Mutation at chromosome 17, position 17793787, within RAI1 (retinoic acid induced 1): benign or pathogenic? If pathogenic, indicate the disease(s). | benign | TTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTGGGCTGTGC... | TTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTGGGCTGTGC... | benign | 265,611 |
Is the variant located on chromosome 17 at position 17793787, gene RAI1 (retinoic acid induced 1), benign or pathogenic? If pathogenic, specify the disease(s) linked. | benign | TTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTGGGCTGTGC... | TTTCTTCCATCCCTCTTTGAGGGGTCTTCTGGTTGGCCAGGCCAGCGAGTCAGCTGGAGGAACCTTTACCCTGGATGCTGGGCTGTCAGATGCTCTGCTCTGAGAGGCTCCCGCAACCCACCCTGGGTCCTTTCCTGACCCAGGATTCTGCTCTGCAGGCAGGGGCAGGTTAGACCCCTGCCTGAGCCCCATCCCCTAAAATCATAACCAGATGGGCTCTTGAGTGTTGCCTGCCCCAGCCCTCACCTGCTGAGGTGGGGAGGAACTGGCCAGGAGGGGACAGGGCTGTGTCGCCCCATGTGGGTGGGGCTGGGCTGTGC... | benign | 265,612 |
Evaluate the clinical significance of the mutation at chromosome 17, position 17794903 in gene RAI1 (retinoic acid induced 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Intellectual_disability', 'Smith-Magenis_syndrome'] | GCTCATCCTCTGCCCCCTCCCTGCCCATCCTCCCCTCCCTCCTTCCCTCCCTCCCTCCCTTCCTTTTTCTTTTCACAGATAACCAGCCCGAGTCATGCAGTCTTTTCGAGAAAGGTGTGGTTTCCATGGCAAACAACAGAACTACCAGCAGACCTCGCAGGAAACATCACGCCTAGAGAATTACAGGCAGCCGAGTCAGGCCGGGCTAAGCTGCGACCGGCAGCGGCTGCTCGCCAAGGACTATTATAACCCGCAGCCTTACCCGAGCTATGAGGGTGGCGCTGGCACGCCCTCTGGCACTGCAGCCGCGGTGGCCGCCG... | GCTCATCCTCTGCCCCCTCCCTGCCCATCCTCCCCTCCCTCCTTCCCTCCCTCCCTCCCTTCCTTTTTCTTTTCACAGATAACCAGCCCGAGTCATGCAGTCTTTTCGAGAAAGGTGTGGTTTCCATGGCAAACAACAGAACTACCAGCAGACCTCGCAGGAAACATCACGCCTAGAGAATTACAGGCAGCCGAGTCAGGCCGGGCTAAGCTGCGACCGGCAGCGGCTGCTCGCCAAGGACTATTATAACCCGCAGCCTTACCCGAGCTATGAGGGTGGCGCTGGCACGCCCTCTGGCACTGCAGCCGCGGTGGCCGCCG... | pathogenic | 265,661 |
Does the genetic variant at chromosome 17, position 17795338, impacting gene RAI1 (retinoic acid induced 1), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Smith-Magenis_syndrome'] | TGAGGAGAGCCTTCAGGCTTGGGGGGCCCCACAGCCACCACCCCCACAGCCGCAGCCACTACCTGCAGGGGTGGCCAAGTATGATGAGAACTTGATGAAAAAGACAGCAGTGCCCCCCAGCAGGCAGTATGCAGAGCAGGGCGCCCAGGTGCCCTTTCGGACTCACTCCCTGCACGTCCAGCAGCCACCGCCGCCCCAGCAGCCCCTGGCATACCCCAAGCTCCAAAGGCAGAAGCTGCAGAACGACATTGCCTCCCCTCTGCCCTTCCCCCAGGGTACCCACTTTCCTCAGCATTCCCAGTCCTTCCCCACCTCCTCCA... | TGAGGAGAGCCTTCAGGCTTGGGGGGCCCCACAGCCACCACCCCCACAGCCGCAGCCACTACCTGCAGGGGTGGCCAAGTATGATGAGAACTTGATGAAAAAGACAGCAGTGCCCCCCAGCAGGCAGTATGCAGAGCAGGGCGCCCAGGTGCCCTTTCGGACTCACTCCCTGCACGTCCAGCAGCCACCGCCGCCCCAGCAGCCCCTGGCATACCCCAAGCTCCAAAGGCAGAAGCTGCAGAACGACATTGCCTCCCCTCTGCCCTTCCCCCAGGGTACCCACTTTCCTCAGCATTCCCAGTCCTTCCCCACCTCCTCCA... | pathogenic | 265,679 |
Is the genetic variant on chromosome 17, position 17795650, gene RAI1 (retinoic acid induced 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | benign | CTCCTCCACCTACTCCTCCTCTGTCCAGGGTGGTGGGCAGGGGGCCCACTCCTATAAGAGTTGCACAGCACCGACTGCCCAGCCCCATGACAGGCCGCTGACTGCCAGCTCCAGCCTGGCCCCGGGGCAGCGGGTCCAGAATCTTCATGCCTACCAGTCGGGCCGCCTCAGCTATGACCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGCCCTTCAGAGCCGGCACCATGCCCAGGAAACCCTCCATTACCAAAACCTCGCCAAGTATCAGCACTACGGGCAGCAAGGCCAGGGCTACTGCCAGCCGG... | CTCCTCCACCTACTCCTCCTCTGTCCAGGGTGGTGGGCAGGGGGCCCACTCCTATAAGAGTTGCACAGCACCGACTGCCCAGCCCCATGACAGGCCGCTGACTGCCAGCTCCAGCCTGGCCCCGGGGCAGCGGGTCCAGAATCTTCATGCCTACCAGTCGGGCCGCCTCAGCTATGACCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGCCCTTCAGAGCCGGCACCATGCCCAGGAAACCCTCCATTACCAAAACCTCGCCAAGTATCAGCACTACGGGCAGCAAGGCCAGGGCTACTGCCAGCCGG... | benign | 265,686 |
Is chromosome 17, position 17795710, gene RAI1 (retinoic acid induced 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Smith-Magenis_syndrome'] | TTGCACAGCACCGACTGCCCAGCCCCATGACAGGCCGCTGACTGCCAGCTCCAGCCTGGCCCCGGGGCAGCGGGTCCAGAATCTTCATGCCTACCAGTCGGGCCGCCTCAGCTATGACCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGCCCTTCAGAGCCGGCACCATGCCCAGGAAACCCTCCATTACCAAAACCTCGCCAAGTATCAGCACTACGGGCAGCAAGGCCAGGGCTACTGCCAGCCGGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAGACCTTCAGCCCCAGCTCCAGCCACT... | TTGCACAGCACCGACTGCCCAGCCCCATGACAGGCCGCTGACTGCCAGCTCCAGCCTGGCCCCGGGGCAGCGGGTCCAGAATCTTCATGCCTACCAGTCGGGCCGCCTCAGCTATGACCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAAGCCCTTCAGAGCCGGCACCATGCCCAGGAAACCCTCCATTACCAAAACCTCGCCAAGTATCAGCACTACGGGCAGCAAGGCCAGGGCTACTGCCAGCCGGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAGACCTTCAGCCCCAGCTCCAGCCACT... | pathogenic | 265,689 |
Regarding the variant found on chromosome 17 at position 17795908 in gene RAI1 (retinoic acid induced 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Smith-Magenis_syndrome'] | TTACCAAAACCTCGCCAAGTATCAGCACTACGGGCAGCAAGGCCAGGGCTACTGCCAGCCGGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAGACCTTCAGCCCCAGCTCCAGCCACTCACCCGCCCGCTCCGTGGGCCGCTCACCTTCCTACAGTTCCACACCGTCGCCGCTGATGCCAAACCTGGAGAACTTTCCCTACAGCCAGCAGCCGCTCAGCACCGGGGCCTTCCCCGCAGGGATCACTGACCACAGCCACTTCATGCCCCTGCTCAATCCCTCCCCAACGGATGCCACCAGCTCTGTGGACACCCAGG... | TTACCAAAACCTCGCCAAGTATCAGCACTACGGGCAGCAAGGCCAGGGCTACTGCCAGCCGGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAGACCTTCAGCCCCAGCTCCAGCCACTCACCCGCCCGCTCCGTGGGCCGCTCACCTTCCTACAGTTCCACACCGTCGCCGCTGATGCCAAACCTGGAGAACTTTCCCTACAGCCAGCAGCCGCTCAGCACCGGGGCCTTCCCCGCAGGGATCACTGACCACAGCCACTTCATGCCCCTGCTCAATCCCTCCCCAACGGATGCCACCAGCTCTGTGGACACCCAGG... | pathogenic | 265,699 |
Mutation found at chromosome 17 position 17796678, gene RAI1 (retinoic acid induced 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | benign | CTGACGACATGTCCACCAAATCTGACGACTCCTTCCAGAGCCTACACGGCAGTCTGCCGCTCGACAGCTTCTCCAAGTTCGTGGCGGGTGAGCGGGACTGTCCGCGGCTGCTGCTCAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGGGGCTGCAGGAAGCCATCGGTGAGAAGGCCGACAAAGCTTGGGCTGAAGCACCCAGCCTGGTCAAGGACAGCAGCAAGCCACCCTTCTCGCTGGAGAACCACAGCGCCTGCCTGGACTCTGTGGCCAAGAGTGCGTGGCCCCGGCCTGGGGAGCCGGAGGCCCTG... | CTGACGACATGTCCACCAAATCTGACGACTCCTTCCAGAGCCTACACGGCAGTCTGCCGCTCGACAGCTTCTCCAAGTTCGTGGCGGGTGAGCGGGACTGTCCGCGGCTGCTGCTCAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGGGGCTGCAGGAAGCCATCGGTGAGAAGGCCGACAAAGCTTGGGCTGAAGCACCCAGCCTGGTCAAGGACAGCAGCAAGCCACCCTTCTCGCTGGAGAACCACAGCGCCTGCCTGGACTCTGTGGCCAAGAGTGCGTGGCCCCGGCCTGGGGAGCCGGAGGCCCTG... | benign | 265,717 |
Does the chromosome 17 mutation at position 17796678 within gene RAI1 (retinoic acid induced 1) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGACGACATGTCCACCAAATCTGACGACTCCTTCCAGAGCCTACACGGCAGTCTGCCGCTCGACAGCTTCTCCAAGTTCGTGGCGGGTGAGCGGGACTGTCCGCGGCTGCTGCTCAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGGGGCTGCAGGAAGCCATCGGTGAGAAGGCCGACAAAGCTTGGGCTGAAGCACCCAGCCTGGTCAAGGACAGCAGCAAGCCACCCTTCTCGCTGGAGAACCACAGCGCCTGCCTGGACTCTGTGGCCAAGAGTGCGTGGCCCCGGCCTGGGGAGCCGGAGGCCCTG... | CTGACGACATGTCCACCAAATCTGACGACTCCTTCCAGAGCCTACACGGCAGTCTGCCGCTCGACAGCTTCTCCAAGTTCGTGGCGGGTGAGCGGGACTGTCCGCGGCTGCTGCTCAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGGGGCTGCAGGAAGCCATCGGTGAGAAGGCCGACAAAGCTTGGGCTGAAGCACCCAGCCTGGTCAAGGACAGCAGCAAGCCACCCTTCTCGCTGGAGAACCACAGCGCCTGCCTGGACTCTGTGGCCAAGAGTGCGTGGCCCCGGCCTGGGGAGCCGGAGGCCCTG... | benign | 265,718 |
Is the genetic mutation found on chromosome 17 at position 17796723, within the gene RAI1 (retinoic acid induced 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACGGCAGTCTGCCGCTCGACAGCTTCTCCAAGTTCGTGGCGGGTGAGCGGGACTGTCCGCGGCTGCTGCTCAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGGGGCTGCAGGAAGCCATCGGTGAGAAGGCCGACAAAGCTTGGGCTGAAGCACCCAGCCTGGTCAAGGACAGCAGCAAGCCACCCTTCTCGCTGGAGAACCACAGCGCCTGCCTGGACTCTGTGGCCAAGAGTGCGTGGCCCCGGCCTGGGGAGCCGGAGGCCCTGCCCGACTCCTTGCAGCTGGACAAGGGCGGCAATGCCAAGGACTTC... | ACGGCAGTCTGCCGCTCGACAGCTTCTCCAAGTTCGTGGCGGGTGAGCGGGACTGTCCGCGGCTGCTGCTCAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGGGGCTGCAGGAAGCCATCGGTGAGAAGGCCGACAAAGCTTGGGCTGAAGCACCCAGCCTGGTCAAGGACAGCAGCAAGCCACCCTTCTCGCTGGAGAACCACAGCGCCTGCCTGGACTCTGTGGCCAAGAGTGCGTGGCCCCGGCCTGGGGAGCCGGAGGCCCTGCCCGACTCCTTGCAGCTGGACAAGGGCGGCAATGCCAAGGACTTC... | benign | 265,719 |
Located at chromosome 17 position 18118824, the variant affecting gene MYO15A (myosin XVA)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | CAGGCGTGGTGGCACATGCCTGTAATCCAAGATATTTGGGAGACTGAGGCACAAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCCCTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAACATTGCCCCTGTCCTTCATTTTTCCTCAAGCGGGCAAGAGCCACTGCCCAAAAACAGAAGGGAGAGTGGGCAGCCCCTCAAACTCCTGCTGTGCAGGAGGCCCACTTCCTGCACGTATCCCCTAACTCGCTCCAAAAGCCCTCCATCC... | CAGGCGTGGTGGCACATGCCTGTAATCCAAGATATTTGGGAGACTGAGGCACAAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCCCTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAGAAAGAAAGAAAGAACATTGCCCCTGTCCTTCATTTTTCCTCAAGCGGGCAAGAGCCACTGCCCAAAAACAGAAGGGAGAGTGGGCAGCCCCTCAAACTCCTGCTGTGCAGGAGGCCCACTTCCTGCACGTATCCCCTAACTCGCTCCAAAAGCCCTCCATCC... | pathogenic | 265,825 |
Chromosome 17, position 18119082, gene MYO15A (myosin XVA): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | TGCTGTGCAGGAGGCCCACTTCCTGCACGTATCCCCTAACTCGCTCCAAAAGCCCTCCATCCAATTTCTCTGGTTTCCATCAAGCCCCACTCCCCATCCCTGTGAGACTGCCTGCACCAGGCACCAACAGCCCCTGGTGCAACTCCTCTGAGTGGCTGGGCACTGACTGGCTCCAGGTGAATCTTGGGGAGGAGGAGCAGGAAGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCT... | TGCTGTGCAGGAGGCCCACTTCCTGCACGTATCCCCTAACTCGCTCCAAAAGCCCTCCATCCAATTTCTCTGGTTTCCATCAAGCCCCACTCCCCATCCCTGTGAGACTGCCTGCACCAGGCACCAACAGCCCCTGGTGCAACTCCTCTGAGTGGCTGGGCACTGACTGGCTCCAGGTGAATCTTGGGGAGGAGGAGCAGGAAGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCT... | pathogenic | 265,827 |
Evaluate this variant at chromosome 17, position 18119145, gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | ATTTCTCTGGTTTCCATCAAGCCCCACTCCCCATCCCTGTGAGACTGCCTGCACCAGGCACCAACAGCCCCTGGTGCAACTCCTCTGAGTGGCTGGGCACTGACTGGCTCCAGGTGAATCTTGGGGAGGAGGAGCAGGAAGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCTCACCCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTG... | ATTTCTCTGGTTTCCATCAAGCCCCACTCCCCATCCCTGTGAGACTGCCTGCACCAGGCACCAACAGCCCCTGGTGCAACTCCTCTGAGTGGCTGGGCACTGACTGGCTCCAGGTGAATCTTGGGGAGGAGGAGCAGGAAGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCTCACCCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTG... | pathogenic | 265,828 |
Mutation found at chromosome 17 position 18119213, gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Hearing_impairment'] | CCCTGGTGCAACTCCTCTGAGTGGCTGGGCACTGACTGGCTCCAGGTGAATCTTGGGGAGGAGGAGCAGGAAGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCTCACCCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAA... | CCCTGGTGCAACTCCTCTGAGTGGCTGGGCACTGACTGGCTCCAGGTGAATCTTGGGGAGGAGGAGCAGGAAGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCTCACCCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAA... | pathogenic | 265,829 |
The genetic variant at chromosome 17, position 18119284, affecting gene MYO15A (myosin XVA): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['MYO15A-related_disorder'] | AGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCTCACCCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAG... | AGAAGAGGAAAGTGAAGAGCCAGAGAAAGTGAGCAGGGGGAAGAGGCAGACAGAGAGGGGGAGACCTCACTTGCTGCATGGTCCCCTCTCTGCTCCTGCCACTTACCTGGGAAGGCCTCACCCTGTCCCTGTTTCACAGCTGAGCACGTTGAGGCTCTGAAGCCACTGATCTGAGGGCGTGGAGCTGGCAAGTGGCAGAACCAGGGCCAGAACCTTGCTGCTTTGGGGTCTCCTATGCTAAACCTTAAACAACCAAAGAATTAGCTCTGGGACCAAAAGAGTGAACCAGAGTTCAGTGAGTTGAGGTCCATCTTGAGGAG... | pathogenic | 265,830 |
Regarding the variant at chromosome 17 and position 18119699, affecting gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | CTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTT... | CTTTTAGTGCAGGTTCTCAAAAGTGAGTTAGACTGGCCACCAACCAGACTTTGGACATGCAGCCTTAGGTCAGGCCATATGAAGCAATCAGCTATGCCCAGAGAAGGCAGTAACCACATGGCCACAGCCTACTCAGCCAGGGCAGAAAGTAAGAGGAGAGGACAGGGCTAGGCAGGGACCCCAGAAAGGAGCCAGCAGGAGGCATCTCCAGTTACCCAGCAGCTCCATCAGGTCTTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTT... | pathogenic | 265,834 |
Assess the variant on chromosome 17, position 18119933, impacting MYO15A (myosin XVA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Hearing_impairment', 'Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness'] | TTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGC... | TTGCTTCCTTTTGGTGAAGGAGATGGGGCATAGCTTATCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGC... | pathogenic | 265,840 |
Considering the variant on chromosome 17, location 18119970, involving gene MYO15A (myosin XVA), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Nonsyndromic_genetic_hearing_loss', 'Rare_genetic_deafness'] | TCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCC... | TCACTCCCATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCC... | pathogenic | 265,842 |
Variant in gene MYO15A (myosin XVA), located at chromosome 17 position 18119978: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Rare_genetic_deafness'] | ATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCT... | ATTCTTCAGAGGAAACTGAGGCCCAGAGAGGACAAGGACTTTCCTGGACCCACACAGCCAGTCAGTGACAGAGCCTAGGGTCTGAGCCAGGCCTGACCCAACCTCCATTTCTGCCTCTCTACCCCTGCCCCCGCCCCAACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCT... | pathogenic | 265,843 |
Is the genetic mutation found on chromosome 17 at position 18120116, within the gene MYO15A (myosin XVA), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'MYO15A-related_disorder'] | ACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTC... | ACACACACACACACACAAGTGGAGTTCCACTGAAACGCCCCTCCTTGCCCTGCCTTCTGAGCCGGCAGCCTGGCTCCCCACCCCATGTATTATTCAGCTCCTGAGAGCCAGCCAGCTCCTGTTACACTGACCGCAGCCCAGCACCTGCTCTGCCCATTCCCCTCCTCCCTTGCCTAGGACCTAGAGGGTTCAAAGTTCTCCTCCAAGATGACTTGGTGGGCTTTGGCCATCCCACCCTAGGCCCCACTTCTGGCCCAGTGCAGGTGTGCTGGTGATTTAGGGCAGGTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTC... | pathogenic | 265,844 |
Is the genetic change at chromosome 17, position 18120401, within gene MYO15A (myosin XVA) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['MYO15A-related_disorder'] | GTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGT... | GTGGCATTCCATCTCTGTGGCTCAATGTCTTCCTCTGTGAAGCCGAAGTGACCCAAGGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGT... | pathogenic | 265,849 |
A genetic variant on chromosome 17, position 18120457, affects the gene MYO15A (myosin XVA). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Inborn_genetic_diseases'] | GGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAG... | GGGCTCCCTTCATGGGGTTGAGCCAGCTGTGGCCCAGGGAGGGCCTAACCAGGATGAGCACTGATGTTGCCATGACGACTCCGAGGCCAGAATGTCTCCCCCAGCACAGGCCTCATAGGCAGGCTTCCCCATCCTGGTAAACAACACCCACACACTTTCTACTACTGCTCTAGGGTGAAACCCAAGGCGCTCTAGAGGAGATGAATTATGGATCCGCCCTCCCGGAATCCTGGCTCGGCCCTCCCCACGCCACCCAGGGCCAGTCGGGTCTGCTCACAGCCCGAGGAGGCCGCGTGTCCAGCCGCGGGCAAGAGACAGAG... | pathogenic | 265,851 |
Located at chromosome 17 position 18121110, the variant affecting gene MYO15A (myosin XVA)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Rare_genetic_deafness'] | ACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCG... | ACGCAGATGCGCATGGGCAAGAAGAAGCGGGCGATGAAGGGCAAGAAGCCGTCCTTCATGGTGATCCGCTTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCG... | pathogenic | 265,866 |
Classify the chromosome 17 variant at position 18121179 affecting gene MYO15A (myosin XVA) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | TTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTC... | TTCCCAGGCCGCCGTGGCTACGGCCGCCTGCGGCCGCGCGCCCGGTCACTCAGCAAAGCGTCCACGGCCATCAACTGGCTCACAAAAAAGTTCCTCCTCAAGAAGGCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTC... | pathogenic | 265,867 |
Does the chromosome 17 mutation at position 18121284 within gene MYO15A (myosin XVA) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic | GCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCA... | GCCGAGGAGTCGGGCAGCGAACAGGCCACAGTGGACGCCTGGCTGCAGCGCTCGAGCTCCCGCATGGGCTCCCGCAAACTCCCCTTCCCGTCGGGTGCCGAGATCCTGCGGCCTGGGGGCCGGCTCCGGAGGTTCCCCCGCAGCCGCAGCATCTACGCGTCAGGCGAGCCCCTGGGCTTCCTGCCCTTCGAGGACGAGGCCCCATTCCATCACTCGGGCTCCCGCAAGTCGCTGTACGGGCTTGAGGGCTTCCAGGACCTGGGCGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCA... | pathogenic | 265,872 |
Regarding the variant at chromosome 17 and position 18121547, affecting gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | CGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATG... | CGAGTATTATGACTATCACCGCGACGGCGACGACTACTACGACCGGCAGTCACTCCACCGCTACGAGGAGCAGGAACCCTACCTGGCGGGCCTCGGCCCCTACAGCCCGGCCTGGCCACCCTACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATG... | pathogenic | 265,877 |
Gene MYO15A (myosin XVA) variant at chromosome 17, position 18121668—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Hearing_impairment'] | TACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTA... | TACGGCGACCACTACTACGGGTACCCGCCCGAGGATCCCTACGACTACTACCACCCCGACTATTACGGTGGCCCCTTTGATCCGGGGTACACCTACGGCTACGGCTACGACGATTACGAACCCCCATATGCGCCCCCGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTA... | pathogenic | 265,878 |
Evaluate if the mutation on chromosome 17 at position 18121804 in MYO15A (myosin XVA) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness'] | CGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTAT... | CGTCGGGGTACTCGTCTCCTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTAT... | pathogenic | 265,880 |
The mutation in gene MYO15A (myosin XVA) at chromosome 17, position 18121822—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Rare_genetic_deafness'] | CTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGAC... | CTTACAGCTACCACGATGGGTACGAGGGCGAGGCGCACCCTTATGGCTACTACCTGGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATGACCTCCCATACCACACTCCCTACGATGTACCCTACTTTGATCCCTACGGAGTCCACTACACCGTCCCCTATGCCGAAGGCGTCTATGGCGGTGGGGACGAGGCCATCTACCCCCCCGAGGTGCCCTATTTTTACCCGGAGGAGTCGGCTTCGGCCTTTGTGTACCCCTGGGTACCACCGCCCATCCCGTCGCCCCACAACCCGTATGCCCACGCCATGGATGAC... | pathogenic | 265,882 |
The mutation in gene MYO15A (myosin XVA) at chromosome 17, position 18122105—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | GTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGC... | GTCGCCCCACAACCCGTATGCCCACGCCATGGATGACATCGCCGAGCTGGAGGAACCAGAGGACGCGGGCGTAGAGCGTCAGGGGACCTCCTTCCGCCTGCCCAGCGCCGCCTTCTTCGAGCAGCAAGGCATGGATAAGCCCGCCAGGTCCAAGCTGTCCCTCATCCGCAAGTTCCGCCTCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGC... | pathogenic | 265,886 |
Is the variant located on chromosome 17 at position 18122323, gene MYO15A (myosin XVA), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'MYO15A-related_disorder'] | AGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGC... | AGCTGGAGGTGCCCCTGCCACCCTCTCTGGACATTCCTCTCCCCTTGGGGGATGCGGACGAAGAAGAGGACGAGGAGGAGCTGCCCCCGGTTTCCGCTGTGCCCTACGGCCACCCTTTCTGGGGCTTCCTCACGCCGCGCCAGCGCAACCTCCAGCGCGCGCTGTCGGCCTTCGGCGCCCACCGGGGCCTGGGCTTCGGCCCTGAGTTTGGCCGCCCCGTGCCTCGCCCTGCCACCTCGCTTGCGCGGTTCCTCAAGAAGACGCTGTCGGAGAAGAAGCCCATCGCGCGGCTCAGGGGCAGCCAGAAGGCCCGGGCGGGC... | pathogenic | 265,891 |
Evaluate the clinical significance of the mutation at chromosome 17, position 18130817 in gene MYO15A (myosin XVA): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTC... | CTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTC... | benign | 265,914 |
A genetic variant on chromosome 17, position 18130817, affects the gene MYO15A (myosin XVA). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | CTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTC... | CTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTC... | benign | 265,915 |
Regarding the variant at chromosome 17 and position 18130817, affecting gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | CTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTC... | CTGAGGCCTAAGAAGGGAGGAGTGAGGTGGTGCAGGAGCTGAGATTTGCAGTCCATGGCAGAGAGCTGTCAGGGAGGACGGATGGAGCTGTGGATGTGGCTGAGTCTGGGAGTTTGTGTGTGCCAGGCACACAGAATGTGTGAGGATGTGCCTGCCAGCTGTGATGACCATGGGGCTCCTTTCCTAGACATGGCTCTTCCCTCCTCAGATAATCAAACAGTCCAGTTCAGTTTTAGGCATGGCTGGATCCAGAATCTTAAACAATGTTTCTTGTCTTGGCTCCACCCTCCCCCATGTATAGGCATCATCCTCAATCTGTC... | benign | 265,916 |
Clinical classification of chromosome 17, position 18131253, gene MYO15A (myosin XVA): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Inborn_genetic_diseases'] | AACCACGTAGCACAGGGAATGCTCTGCCCTGACTGGCTAAGGCCTGGACCACAGGTTCCACCCTTCTGGTGTTTACCCACTCCATCCGCTGGCTTTATGCCCTGCTGTATGCTGGGCACCGGGAACAGAGAAGCAGCCAACCTGTCCTCAAGGGCTTCCCAGACTAAGGGATAGTACACAGGAAAGCCCAGGCAGACCTTGACTTATTGAGCAATCACAGGCCAGCCCCATCCCTCTCTGGACCTCAGTTTACTCCTTTATGCAATGGGTGCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCC... | AACCACGTAGCACAGGGAATGCTCTGCCCTGACTGGCTAAGGCCTGGACCACAGGTTCCACCCTTCTGGTGTTTACCCACTCCATCCGCTGGCTTTATGCCCTGCTGTATGCTGGGCACCGGGAACAGAGAAGCAGCCAACCTGTCCTCAAGGGCTTCCCAGACTAAGGGATAGTACACAGGAAAGCCCAGGCAGACCTTGACTTATTGAGCAATCACAGGCCAGCCCCATCCCTCTCTGGACCTCAGTTTACTCCTTTATGCAATGGGTGCAGTATTTCCTGGACTAAATGGGACAGATGGAGGGAACTGGCCCCATCC... | pathogenic | 265,918 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 18135798, gene MYO15A (myosin XVA): what disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | AGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCA... | AGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCA... | pathogenic | 265,933 |
Assess the variant on chromosome 17, position 18135808, impacting MYO15A (myosin XVA): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic | GATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCT... | GATTCTCCTGCCTCAGCCTCCCGACTGCCTGGGATTACAGGCACACACCACTACCGCCCCACTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAATGATCCACCGGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACCGCGCCCAGCCCTTTGGTGTTTATTTTATTTTATTTTATTTTTATTTATTTATTTTTTCTTTGAGATGGAGTCTCGCCCTGTCGCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACCTCTGCCT... | pathogenic | 265,934 |
A genetic alteration at chromosome 17, position 18136421, in gene MYO15A (myosin XVA)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic | TTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTA... | TTTGAAATTTTAAACTTTTTCATTTTTGGAGAAACTTCCTAAAATTGTAACAGCCTTCTTCCATAACTTTTTCTAAGACCTTTTATGGATTTTGTGAGTTTTAAAAAACACTTAAATCTTTGATCCATCCAAATTTATCCCAGTAAGGTGTGACGTAGGAATCCAACTTTTTTCCCAGGTGGTTACTCAATTGTCCTAATCTCTTGATTTGAAAAATACATCTTTATTAGCTGGGTATGGTGGCTCATGCCTGTAATCCCAACATTTTGGGAGGCCAAGGCAGGTGGATTGCTCGAGCCCAGGAGCTGGAGACCAGCCTA... | pathogenic | 265,939 |
Benign or pathogenic: chromosome 17, position 18141069, gene MYO15A (myosin XVA) variant? Disease(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | ACATTCACAGCCAGGTCCAATTCTGGCTCTGCTGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGT... | ACATTCACAGCCAGGTCCAATTCTGGCTCTGCTGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGT... | pathogenic | 265,965 |
Clinical significance of chromosome 17, position 18141101, gene MYO15A (myosin XVA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['MYO15A-related_disorder'] | TGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTT... | TGTGCCCCAGCTCTGTGACCTTGAGCAAATTGCTTAGCCAGTCTGAGCCTCAGTTCTCTCACTTGGAAAATGGGGTAATAATAGTGCCCAACTCATGGGGCAGGTGTGAAAAATGTAGGGTGGGTTTGATAAAGAGTAGCTCATCAATAGTGACATCACTATGGTCACCCTCATCACTATTATCTGAGGCACATTCCTGCCCTGGAGGTGTCTCAGGCTAGGATTCCATGCCTCTGTCCCCATCCGGGCCTTACTTTTCTCATCTGTAGAATGGGCACAGGACAATGTCCTTCACTGAGGGTGAGGCCAAGACCCAGGTT... | pathogenic | 265,966 |
The mutation impacting MYO15A (myosin XVA) on chromosome 17 at position 18148215: benign or pathogenic? Name the associated disease(s) if pathogenic. | benign | AAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTG... | AAGGCAGGGTCTTAAAGGTCAGGCCAGGAGTCAGATCTCTATGCTGGGAAGCTCAGGCATGGAGGCTGGCCAGGGCTGCTCTGCATTTCTACTGGGCTCAGAGCAAGAAAGGAGGGCAGGCCTTCACTGCAGGGGCTAGGAGTTAGGTCAGACTGGATGAGGGACTTCCAGAACTCAGAGTGGGACAAGACCAGCATGTGGAGAATTTGGAAAAGAGCATTGACCTCTCACAGCATGAGAGTTTAATGGGGTGGTTAGGAGCATGGATACGGGACTCAGACAATCAGGGTTCAAATCCCAGCTCAGCCATATATGAGCTG... | benign | 266,010 |
Is the variant located on chromosome 17 at position 18148858, gene MYO15A (myosin XVA), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | AGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATC... | AGCTACTCAAGAGGTTGAGGCAAGAGCATTGCTTGAACCCAGGAGGTTGAGGATGCAGTGAGCCAAGATCATGCCACTTACACTTCAGCCTGGGCAACAGAGCAAGACCCTGTCTGATGTTAAAAAAAAATGGCATAATGATAATACCTACTTCATAGGCTCTTGTGTGGATAAAATATATAAACACACGTAAAGTGCTTAGAACAGAGAGGGGCACATGGTAGGTGCTATGTGGGTATAACCATCACAATGATGTCACCCTGCTGGGTGAGAAGGATGATTTGCAAGGAAATCGCTCAGGCAGGCCCTGGGTGTGAATC... | pathogenic | 266,017 |
Variant chromosome 17, position 18149261, gene MYO15A (myosin XVA): benign or pathogenic? Disease(s)? | pathogenic; ['Rare_genetic_deafness'] | TGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAAC... | TGGCAACAGAACCCACCTAACAGGGTGGCTGTGAGTTAGAGTATACAGAATCTTGCTTAGGCCAGCATGCAGCAAATGGACATCACCTGGCCAGTCTTGTGACTCTGTGGCAGCTGACAGCAGGGTAAGGCCGTTGCTGGTCTGCCTGCCTGGGGCTTTCCTGAGGGCATGGTGCTAGGTTCCCTCTCTAGCTACTGTGGGCCTGCACCAGTGCTGCTCTTGGCCAGGCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAAC... | pathogenic | 266,024 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 18149488, gene MYO15A (myosin XVA). What disease(s) is it linked to if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Congenital_sensorineural_hearing_impairment', 'MYO15A-related_disorder', 'Rare_genetic_deafness'] | GCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGA... | GCTTAGCTGCAGGAGATGTAGGATGTGGGGGTGAGGGAAGCATGAGGAATGGCTGGTAGGGATTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGA... | pathogenic | 266,027 |
Chromosome 17, position 18149550, gene MYO15A (myosin XVA): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['MYO15A-related_disorder', 'Rare_genetic_deafness'] | TTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGA... | TTGGGCTCATTGGGCCTGGGTTGAGTTGAACCCTCAGCTGTCCCTTTTATAGGTGAAAACTTGGAGGAGAGGCTCAGAGAGGGCAGATAATCATCCAAGGTTGCCCTGTGAGAGAATGGAGACAGAGTTCTGGTTGTTGCCCACACCCAGCTGCAGACCCCAGCCTGTCAATGACATTTTGTTCCAACAAGCTGGTACCTCTTTGGCCTATCCTTGGACCTCTGGGCTGGCCTGAGATACTTCTGGACTAGCCTGGGACCCTTTCAGTTTAGCCGTGGGACTCTAAACTACCCTGAGATCTTTTGTAGGCTAGCCTGGGA... | pathogenic | 266,028 |
Gene MYO15A (myosin XVA) variant at chromosome 17, position 18150440—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Rare_genetic_deafness'] | GAGGCTACAGATACAGGAAGCCTGAAAGGAAGAAGCAAGCAGGGAGGCACAGCCAAACTGGACTCAGATGCTCCAACCTGAGCCCGGCACCTGCTGCGCCCCAGGTGACCAGTTCTCCTGCCCGGTGCACTCCTGGAGTACGGGGGAAGAGGTGGCTGGAGACATTCTGAGGCACAGGTTGGCTCCTAGGATGCCCTCCCAGCACACTCTTATGTACCTGGAATGTTGTGGGGGGAGGTCAGATCCCCCAGAGGGTCCCATAGGGTCCATTCTGTTCATGTTTAGGGTCTGGCTTATAACCCAGGATCTCCCCAGGTAGT... | GAGGCTACAGATACAGGAAGCCTGAAAGGAAGAAGCAAGCAGGGAGGCACAGCCAAACTGGACTCAGATGCTCCAACCTGAGCCCGGCACCTGCTGCGCCCCAGGTGACCAGTTCTCCTGCCCGGTGCACTCCTGGAGTACGGGGGAAGAGGTGGCTGGAGACATTCTGAGGCACAGGTTGGCTCCTAGGATGCCCTCCCAGCACACTCTTATGTACCTGGAATGTTGTGGGGGGAGGTCAGATCCCCCAGAGGGTCCCATAGGGTCCATTCTGTTCATGTTTAGGGTCTGGCTTATAACCCAGGATCTCCCCAGGTAGT... | pathogenic | 266,033 |
Clinically, how would you classify the variant at chromosome 17, position 18150880, gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | GCCACGACTACGTGTTAGACCTGGTGTCGGACCTGGAGCTGCTCAGGGACTTCCCTCGACAGAAGTCCTACTTCATTGTGGGCACAGAGGGGCCTGCAGCCAGCAGGGGAGGCCCCAAAGTGTAGGTAGCTATGGGGGACCCCCTCACAGATGGCCACTCCCAGGCAGAAGGCCGGCCACTCCCAGGCAGAAGGCCTGCCCCTCCCAGCTGCTGGGACAGGCTGAGCCCTGAACTTAGACTTCAGGTTCTTAAGGAGGTAGAGTTCACCAAAGGATCCTGCTTTTAAATGGAGAAAGCCACTGAATACCAGGGTGCAGAA... | GCCACGACTACGTGTTAGACCTGGTGTCGGACCTGGAGCTGCTCAGGGACTTCCCTCGACAGAAGTCCTACTTCATTGTGGGCACAGAGGGGCCTGCAGCCAGCAGGGGAGGCCCCAAAGTGTAGGTAGCTATGGGGGACCCCCTCACAGATGGCCACTCCCAGGCAGAAGGCCGGCCACTCCCAGGCAGAAGGCCTGCCCCTCCCAGCTGCTGGGACAGGCTGAGCCCTGAACTTAGACTTCAGGTTCTTAAGGAGGTAGAGTTCACCAAAGGATCCTGCTTTTAAATGGAGAAAGCCACTGAATACCAGGGTGCAGAA... | pathogenic | 266,039 |
Evaluate if the mutation on chromosome 17 at position 18151111 in MYO15A (myosin XVA) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic | AACTTAGACTTCAGGTTCTTAAGGAGGTAGAGTTCACCAAAGGATCCTGCTTTTAAATGGAGAAAGCCACTGAATACCAGGGTGCAGAAGAAAATTTGGGGGATTCTGGGATCTCTCTGGGGGTCAGTAGCTCCATGTTCCTTTTCTCCACAGGGTGTTTGGGAACAGCTGGGACTCGGATGAGGACATGTCCACTAGACCCCAGCCCCAGGAGCACATGCCCAAAGTACTTGACTCTGATGGGTACAGCAGCCACAATCAGGACGGTACAAATGGGGAGACTGAGGCCCAAAGAGGGACAGCAACCCACCAAGGTCAAC... | AACTTAGACTTCAGGTTCTTAAGGAGGTAGAGTTCACCAAAGGATCCTGCTTTTAAATGGAGAAAGCCACTGAATACCAGGGTGCAGAAGAAAATTTGGGGGATTCTGGGATCTCTCTGGGGGTCAGTAGCTCCATGTTCCTTTTCTCCACAGGGTGTTTGGGAACAGCTGGGACTCGGATGAGGACATGTCCACTAGACCCCAGCCCCAGGAGCACATGCCCAAAGTACTTGACTCTGATGGGTACAGCAGCCACAATCAGGACGGTACAAATGGGGAGACTGAGGCCCAAAGAGGGACAGCAACCCACCAAGGTCAAC... | pathogenic | 266,044 |
Does the variant impacting MYO15A (myosin XVA) on chromosome 17, position 18151259, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic | CACAGGGTGTTTGGGAACAGCTGGGACTCGGATGAGGACATGTCCACTAGACCCCAGCCCCAGGAGCACATGCCCAAAGTACTTGACTCTGATGGGTACAGCAGCCACAATCAGGACGGTACAAATGGGGAGACTGAGGCCCAAAGAGGGACAGCAACCCACCAAGGTCAACCAACAATGGCTGCTGTCTCTGGTGGGGAGGGAGCCTTAGAGGCTGTGTGGGGTGGAAATCATCAAGAAAAAAGAACTTGACATTTTTGTGCCTTCCCCTCCAGAGTCAGACAGTCTTGGAGAGCCTGCTGTGCCCCACAAGGGGCTGG... | CACAGGGTGTTTGGGAACAGCTGGGACTCGGATGAGGACATGTCCACTAGACCCCAGCCCCAGGAGCACATGCCCAAAGTACTTGACTCTGATGGGTACAGCAGCCACAATCAGGACGGTACAAATGGGGAGACTGAGGCCCAAAGAGGGACAGCAACCCACCAAGGTCAACCAACAATGGCTGCTGTCTCTGGTGGGGAGGGAGCCTTAGAGGCTGTGTGGGGTGGAAATCATCAAGAAAAAAGAACTTGACATTTTTGTGCCTTCCCCTCCAGAGTCAGACAGTCTTGGAGAGCCTGCTGTGCCCCACAAGGGGCTGG... | pathogenic | 266,046 |
Is the genetic variant on chromosome 17, position 18153812, gene MYO15A (myosin XVA), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | GGAGGAAGTTTCCTACTGTCAAACTATGTGATGGGAAAGGGAGACTCAGTGTCAACCCACCACAGTACTCCAATGCCCACAGGAAGGATGGCGGGAAAGTGTTCATGAAGCGGCCAGACCCTCATGAGGAGGCCCTGATGATCCTGAAAGGGCAGATGACCCACCTGGCAGCTGCACCTGGCACCCAGGTGAGGGGGGAAGGTGGGGCTGAGCCCAGGTGGAACAGAAGACAAAGAGGGGCCTCAGGGATCCTCAGAAACCAGCTACCCCTATAAGCTGTGGCCCTGCCACTGCCCCTCCACAGGGCCTGCCTGTTGCCC... | GGAGGAAGTTTCCTACTGTCAAACTATGTGATGGGAAAGGGAGACTCAGTGTCAACCCACCACAGTACTCCAATGCCCACAGGAAGGATGGCGGGAAAGTGTTCATGAAGCGGCCAGACCCTCATGAGGAGGCCCTGATGATCCTGAAAGGGCAGATGACCCACCTGGCAGCTGCACCTGGCACCCAGGTGAGGGGGGAAGGTGGGGCTGAGCCCAGGTGGAACAGAAGACAAAGAGGGGCCTCAGGGATCCTCAGAAACCAGCTACCCCTATAAGCTGTGGCCCTGCCACTGCCCCTCCACAGGGCCTGCCTGTTGCCC... | pathogenic | 266,060 |
Variant at chromosome position 18153872, chromosome 17, gene MYO15A (myosin XVA): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic | CACAGTACTCCAATGCCCACAGGAAGGATGGCGGGAAAGTGTTCATGAAGCGGCCAGACCCTCATGAGGAGGCCCTGATGATCCTGAAAGGGCAGATGACCCACCTGGCAGCTGCACCTGGCACCCAGGTGAGGGGGGAAGGTGGGGCTGAGCCCAGGTGGAACAGAAGACAAAGAGGGGCCTCAGGGATCCTCAGAAACCAGCTACCCCTATAAGCTGTGGCCCTGCCACTGCCCCTCCACAGGGCCTGCCTGTTGCCCCCTGAGCAGTCTCTTTGGGGTGGGACAGGTGTCCAGAGAGGCCGTGGCCCTGGTGAAGCC... | CACAGTACTCCAATGCCCACAGGAAGGATGGCGGGAAAGTGTTCATGAAGCGGCCAGACCCTCATGAGGAGGCCCTGATGATCCTGAAAGGGCAGATGACCCACCTGGCAGCTGCACCTGGCACCCAGGTGAGGGGGGAAGGTGGGGCTGAGCCCAGGTGGAACAGAAGACAAAGAGGGGCCTCAGGGATCCTCAGAAACCAGCTACCCCTATAAGCTGTGGCCCTGCCACTGCCCCTCCACAGGGCCTGCCTGTTGCCCCCTGAGCAGTCTCTTTGGGGTGGGACAGGTGTCCAGAGAGGCCGTGGCCCTGGTGAAGCC... | pathogenic | 266,064 |
The genetic variant at chromosome 17, position 18154138, affecting gene MYO15A (myosin XVA): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Rare_genetic_deafness'] | CAGTCTCTTTGGGGTGGGACAGGTGTCCAGAGAGGCCGTGGCCCTGGTGAAGCCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCA... | CAGTCTCTTTGGGGTGGGACAGGTGTCCAGAGAGGCCGTGGCCCTGGTGAAGCCGGTGACCAGTGCACCAAGGCCATCCATGGCACCCACTTCAGGTGAGAGGGCCAGGAGGGAGGGAGGGGAGGGTGTCCAAGTATATGAGGAAGTCTGTGGGCACAGGTGAGTGTGTCGGTGGAGTGTGTGTGTCTATGTCCCTGAGCCCCTGTGTACATCTTGTGAGCACATTGGTGTAATTATAATGTCAATACTTAAGTAGCACAGATCTCAGGCCAGGCCCATCCTGGCCTCATGTAATCCTACCAGAACCCTTCAAGGTAGCA... | pathogenic | 266,069 |
Is the chromosome 17, position 18155191 variant in MYO15A (myosin XVA) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | CCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC... | CCTGTAATCCCAGCACTTTGGGAGTCCGAGGCGGGCGGATCACAAGGTCAAGAGATCAAGACCATCCTGGCCAATATGGTGAAACCCCTTCTCTGCTAAAAACACAAAAATTAGCTGGGCGTGGTGGTGGGCACATCCAATAGGTGTTTTTATGTGTTGAATGAAAGGCTGGGTCATATGTGACCCTTGTGAGCAGCTGTTTCCGTGGACTGCTCCTGGGTCCCCTCCTCCACCCGCCCTGCCTCTCCCATTTCATCCTAGGAGGTGCCTGTGGCCGGGCGCAGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC... | pathogenic | 266,073 |
A genetic variant at chromosome 17, position 18157723, affecting gene MYO15A (myosin XVA)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | CCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAA... | CCTGCACAGCAGCAGCACTGTGCAGAGGGGCAGCTGTGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAA... | pathogenic | 266,097 |
Evaluate if the mutation on chromosome 17 at position 18157759 in MYO15A (myosin XVA) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | TGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGG... | TGCTGGAAATGACCAAATCCTGATGCAGCTGGGGAGGGAACCACTGCCAGCAGTGACACCTTACTGAGTACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGG... | pathogenic | 266,098 |
Determine if the mutation at chromosome 17, position 18157827 in gene MYO15A (myosin XVA) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | TACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGG... | TACTCAGACTCCCTCCCCTGCTAGAAGTCCCTTTTGTCCTTTTTAACACGAGGATGGGAATGGAACCTTGCTAACTGGTTAGGTAAAACCTGCATGCTTTGAAAGATGGAGAGAATTTGGTCAATGGGTGAAAGAGAGATTTGGGTAGGTGCAAATCTAGATTTAGAGCTTGGACCAAGGGACAAAGGGTGGAGAGGGGCCGGAGTGTCAGCCCAAAGGGTGGTAGGAACTGAGCTGAAGCCACAGCCTGGGTCAGAGAGGGGAAGCAGGAAGCTTAGGGTTCTGTGGGAGCTGGCACAATGGGGCCAAGGTGGGGCTGG... | pathogenic | 266,101 |
Considering the genetic mutation at chromosome 17, position 18160000, impacting MYO15A (myosin XVA): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | GCTGCAGAAGGGGTGAGGCGAGTGGGGATAAGGTGGGCCAAGGGCCTGGCCAGGCTCTTGGGGCGTGGCTGATCTTGGACTAGTGTGAGGGTGAACCAGGTAGAGTGAGCCGCAGGTGAGACCCGGGAGATGGGACCAGAGATGGTTGGAGGTGTGGCCAAATGGGGTAGGGAAGGATGAAGATCAGCTGGTTGTAATCAGGACAATGGGGTCAGACCAGCCGGGGCCCGCCAGTTGGTGAAGTCTACTGGGTTTGGGGCGGTGCCAGGTGAGTGGGCGGCTTGTGGAGCTAGCGAGGGGCGGGGTCAGCTGTGACGTGG... | GCTGCAGAAGGGGTGAGGCGAGTGGGGATAAGGTGGGCCAAGGGCCTGGCCAGGCTCTTGGGGCGTGGCTGATCTTGGACTAGTGTGAGGGTGAACCAGGTAGAGTGAGCCGCAGGTGAGACCCGGGAGATGGGACCAGAGATGGTTGGAGGTGTGGCCAAATGGGGTAGGGAAGGATGAAGATCAGCTGGTTGTAATCAGGACAATGGGGTCAGACCAGCCGGGGCCCGCCAGTTGGTGAAGTCTACTGGGTTTGGGGCGGTGCCAGGTGAGTGGGCGGCTTGTGGAGCTAGCGAGGGGCGGGGTCAGCTGTGACGTGG... | pathogenic | 266,118 |
Gene mutation in MYO15A (myosin XVA) at chromosome 17, position 18163816—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | GGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATG... | GGTGGGCAAGAATCCAGAGTACTGGGGTGCGGCCCTGCCTCTCTGACTGTTGGGACTCAGCAAGGGTCTTGAGGGATCTGGGCAGAGGTGGGCCCAAGCTGGTATCATCCCCCTTAGAATATGGAGAAAGGGGGGGCCACTCTTCAGCGTTGTTTCCATAGCAACCCCTGGGGCTCCCTAAGAAGGAGGCTGGGGCCCCTGTAGTCACCATGGCAGCCGTGGAGGAGATAGGAGACCTTACCCTTCCTGCCTCTGAATGCTTCTCTCTGATTCAATTAACAAACATTCAACCCACAGATGAATAGACCCAGCTCCCTATG... | pathogenic | 266,143 |
Chromosome 17, position 18172184, gene MYO15A (myosin XVA): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'Rare_genetic_deafness'] | CTGGAAGACTCCACTGTACACTTGTGAGAGCACAAGAGAGAAAATGACAAGTTCCTAATGTGATGAAAATGATTTTCAACCCCCTCGACCACACTTTGAGAACCCCTGGAAAAACGAATAGTAAGATGATGTCCGTACCATGTGTATTCCAGCGCCTGTAACACAGTAAGGGCTCAATATGTAAAGCTCCTTATTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGACTGGAGTGCAGTGACCCCATCACGGCTCACTGCAGCCTTGACCTCTTGGGC... | CTGGAAGACTCCACTGTACACTTGTGAGAGCACAAGAGAGAAAATGACAAGTTCCTAATGTGATGAAAATGATTTTCAACCCCCTCGACCACACTTTGAGAACCCCTGGAAAAACGAATAGTAAGATGATGTCCGTACCATGTGTATTCCAGCGCCTGTAACACAGTAAGGGCTCAATATGTAAAGCTCCTTATTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGACTGGAGTGCAGTGACCCCATCACGGCTCACTGCAGCCTTGACCTCTTGGGC... | pathogenic | 266,157 |
The mutation in gene MYO15A (myosin XVA) at chromosome 17, position 18172190—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | GACTCCACTGTACACTTGTGAGAGCACAAGAGAGAAAATGACAAGTTCCTAATGTGATGAAAATGATTTTCAACCCCCTCGACCACACTTTGAGAACCCCTGGAAAAACGAATAGTAAGATGATGTCCGTACCATGTGTATTCCAGCGCCTGTAACACAGTAAGGGCTCAATATGTAAAGCTCCTTATTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGACTGGAGTGCAGTGACCCCATCACGGCTCACTGCAGCCTTGACCTCTTGGGCTCAAGT... | GACTCCACTGTACACTTGTGAGAGCACAAGAGAGAAAATGACAAGTTCCTAATGTGATGAAAATGATTTTCAACCCCCTCGACCACACTTTGAGAACCCCTGGAAAAACGAATAGTAAGATGATGTCCGTACCATGTGTATTCCAGCGCCTGTAACACAGTAAGGGCTCAATATGTAAAGCTCCTTATTTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTATTTTGAGACAGAGTCTCTCTCTGTCACCCAGACTGGAGTGCAGTGACCCCATCACGGCTCACTGCAGCCTTGACCTCTTGGGCTCAAGT... | pathogenic | 266,158 |
Clinical significance of chromosome 17, position 18173802, gene MYO15A (myosin XVA): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Inborn_genetic_diseases'] | CCCGTGCCCAGTTTCTGGGTAAGAGCTGCAGGGCAGGGGAGGTGATCATAGGGGGCTTTGCTGAGGAGGGTGGTCATGGAGGATGGGTATGGAGGCACCTCTTTCTTTGCACAAAGGCATTTTTCAGTGCCAGTCAAGCTGAGCACCTGCCTGGAGAAAACATGTCTTTACATTATGGAGATGTCACCTAGGCTCAAAGTGGCCCTGGGCAGAGGAAGAAGAGCTGCAAGCAGGGATAGAGGAAGAGGCCATGAGAAGGGAGGCCAGAGAGATGGGAGGAGACCCAGACCAAGGGCTTCTGCACTGGCTGGACACAGCCC... | CCCGTGCCCAGTTTCTGGGTAAGAGCTGCAGGGCAGGGGAGGTGATCATAGGGGGCTTTGCTGAGGAGGGTGGTCATGGAGGATGGGTATGGAGGCACCTCTTTCTTTGCACAAAGGCATTTTTCAGTGCCAGTCAAGCTGAGCACCTGCCTGGAGAAAACATGTCTTTACATTATGGAGATGTCACCTAGGCTCAAAGTGGCCCTGGGCAGAGGAAGAAGAGCTGCAAGCAGGGATAGAGGAAGAGGCCATGAGAAGGGAGGCCAGAGAGATGGGAGGAGACCCAGACCAAGGGCTTCTGCACTGGCTGGACACAGCCC... | pathogenic | 266,162 |
Is the genetic change at chromosome 17, position 18173848, within gene MYO15A (myosin XVA) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3'] | CATAGGGGGCTTTGCTGAGGAGGGTGGTCATGGAGGATGGGTATGGAGGCACCTCTTTCTTTGCACAAAGGCATTTTTCAGTGCCAGTCAAGCTGAGCACCTGCCTGGAGAAAACATGTCTTTACATTATGGAGATGTCACCTAGGCTCAAAGTGGCCCTGGGCAGAGGAAGAAGAGCTGCAAGCAGGGATAGAGGAAGAGGCCATGAGAAGGGAGGCCAGAGAGATGGGAGGAGACCCAGACCAAGGGCTTCTGCACTGGCTGGACACAGCCCAGAGAAGCTATGCAGTTCAGGGCCATGGCTGTTGTCAGTGAGCCCT... | CATAGGGGGCTTTGCTGAGGAGGGTGGTCATGGAGGATGGGTATGGAGGCACCTCTTTCTTTGCACAAAGGCATTTTTCAGTGCCAGTCAAGCTGAGCACCTGCCTGGAGAAAACATGTCTTTACATTATGGAGATGTCACCTAGGCTCAAAGTGGCCCTGGGCAGAGGAAGAAGAGCTGCAAGCAGGGATAGAGGAAGAGGCCATGAGAAGGGAGGCCAGAGAGATGGGAGGAGACCCAGACCAAGGGCTTCTGCACTGGCTGGACACAGCCCAGAGAAGCTATGCAGTTCAGGGCCATGGCTGTTGTCAGTGAGCCCT... | pathogenic | 266,164 |
Does the variant on chromosome 17 at location 18178849 affecting gene MYO15A (myosin XVA) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Autosomal_recessive_nonsyndromic_hearing_loss_3', 'MYO15A-related_disorder'] | GCCGGAATTACAGGCATGAGCCACCATGCCTGGCTGGGCATCACATTTCAACACAAGATTTAGAAGGGACAAATATCCAAACTGTATCATTCCCCCATCAGAATGTCAGCTCCAAGAGAGCAGGACCGTATCCATCTTGTTCATGCTGTGTCCATAACTCAGCGCCTGGCACATAGTAGATGCTCCATACATATTTGTTGGTTGCATGGGTGGGTGGGTGGATAGATGGATGGATGAAGGCCTCTTTGCTTTTCCCACTTCCTTGCAGCACCACCTGACCTCCTTATGCTGCCCTCTCTGCCTCTGGCCTGTATGTGTCA... | GCCGGAATTACAGGCATGAGCCACCATGCCTGGCTGGGCATCACATTTCAACACAAGATTTAGAAGGGACAAATATCCAAACTGTATCATTCCCCCATCAGAATGTCAGCTCCAAGAGAGCAGGACCGTATCCATCTTGTTCATGCTGTGTCCATAACTCAGCGCCTGGCACATAGTAGATGCTCCATACATATTTGTTGGTTGCATGGGTGGGTGGGTGGATAGATGGATGGATGAAGGCCTCTTTGCTTTTCCCACTTCCTTGCAGCACCACCTGACCTCCTTATGCTGCCCTCTCTGCCTCTGGCCTGTATGTGTCA... | pathogenic | 266,167 |
Does the variant on chromosome 17 at location 18246773 affecting gene FLII (FLII actin remodeling protein) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | GGGGGGGGGGCAGGGGGGGGGGTCAAGATGAGTTTCCCTGTAGATTGTACCTTGGGGTTTTTTTCTGTCGTTTTGTTAAAATTAGCGCCATTTTAATATTAAAAATACTGATTTTTAATATTGAAAATAAAAGCATTTAATATCTCTTAAAGGGCATCCACATCTGCTTTATCCCTAGCGGAAGAGTGAGGGGGCTTCACACGTGCACTCACACTGTGGAGAGAGTTGGATTTCCCAGACCCCTGAGGGCACCTGTCAGGGTCATCCCCATTGGTGCTGCTTGAGGCTACTGGGGACTGTGGCACTGGACGTGGCTGGAG... | GGGGGGGGGGCAGGGGGGGGGGTCAAGATGAGTTTCCCTGTAGATTGTACCTTGGGGTTTTTTTCTGTCGTTTTGTTAAAATTAGCGCCATTTTAATATTAAAAATACTGATTTTTAATATTGAAAATAAAAGCATTTAATATCTCTTAAAGGGCATCCACATCTGCTTTATCCCTAGCGGAAGAGTGAGGGGGCTTCACACGTGCACTCACACTGTGGAGAGAGTTGGATTTCCCAGACCCCTGAGGGCACCTGTCAGGGTCATCCCCATTGGTGCTGCTTGAGGCTACTGGGGACTGTGGCACTGGACGTGGCTGGAG... | benign | 266,184 |
Is the genetic variant on chromosome 17, position 19648991, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Sjögren-Larsson_syndrome'] | TGCTGGAAGCCAGATGAAATTCCAGAAAGGAGTTGCCTCCCCTCCATCGTCATGGAGGCAGGAAAACGCACCTTCTTTGTTGGGAGTAAGTAAAACTGCAGACAAAGAGGTGTACAGCAAAATAAACTTTAGATCTCAACCAAATTTTGGGACATCAGGGATTCTCTGGAGTGGGGTGCTCCCAGGCCTCAGCAAATTGTCCTGTTTGAGCAATAAAAATAGCCCAAGCTGGTACCAAGCACTGATAGATTTGTCAAAGGTCAGGGCCACCTCCACTGAGTCACTTCCTTTGGCTGCCAGCTTGTAAACCAAAACCAGCT... | TGCTGGAAGCCAGATGAAATTCCAGAAAGGAGTTGCCTCCCCTCCATCGTCATGGAGGCAGGAAAACGCACCTTCTTTGTTGGGAGTAAGTAAAACTGCAGACAAAGAGGTGTACAGCAAAATAAACTTTAGATCTCAACCAAATTTTGGGACATCAGGGATTCTCTGGAGTGGGGTGCTCCCAGGCCTCAGCAAATTGTCCTGTTTGAGCAATAAAAATAGCCCAAGCTGGTACCAAGCACTGATAGATTTGTCAAAGGTCAGGGCCACCTCCACTGAGTCACTTCCTTTGGCTGCCAGCTTGTAAACCAAAACCAGCT... | pathogenic | 266,273 |
Determine if the mutation at chromosome 17, position 19649096 in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Sjögren-Larsson_syndrome'] | AGAGGTGTACAGCAAAATAAACTTTAGATCTCAACCAAATTTTGGGACATCAGGGATTCTCTGGAGTGGGGTGCTCCCAGGCCTCAGCAAATTGTCCTGTTTGAGCAATAAAAATAGCCCAAGCTGGTACCAAGCACTGATAGATTTGTCAAAGGTCAGGGCCACCTCCACTGAGTCACTTCCTTTGGCTGCCAGCTTGTAAACCAAAACCAGCTCTCAATCAATTTGGAAGTTTATTTTGCCAAGGTTAAGGACATGCTTGGGAGGGAGGTCTGTGCCTTTATCTAAAGATGATTTTGAGGGCTTCAATATTTAAAAGG... | AGAGGTGTACAGCAAAATAAACTTTAGATCTCAACCAAATTTTGGGACATCAGGGATTCTCTGGAGTGGGGTGCTCCCAGGCCTCAGCAAATTGTCCTGTTTGAGCAATAAAAATAGCCCAAGCTGGTACCAAGCACTGATAGATTTGTCAAAGGTCAGGGCCACCTCCACTGAGTCACTTCCTTTGGCTGCCAGCTTGTAAACCAAAACCAGCTCTCAATCAATTTGGAAGTTTATTTTGCCAAGGTTAAGGACATGCTTGGGAGGGAGGTCTGTGCCTTTATCTAAAGATGATTTTGAGGGCTTCAATATTTAAAAGG... | pathogenic | 266,277 |
Mutation at chromosome 17, position 19649121, within ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Sjögren-Larsson_syndrome'] | AGATCTCAACCAAATTTTGGGACATCAGGGATTCTCTGGAGTGGGGTGCTCCCAGGCCTCAGCAAATTGTCCTGTTTGAGCAATAAAAATAGCCCAAGCTGGTACCAAGCACTGATAGATTTGTCAAAGGTCAGGGCCACCTCCACTGAGTCACTTCCTTTGGCTGCCAGCTTGTAAACCAAAACCAGCTCTCAATCAATTTGGAAGTTTATTTTGCCAAGGTTAAGGACATGCTTGGGAGGGAGGTCTGTGCCTTTATCTAAAGATGATTTTGAGGGCTTCAATATTTAAAAGGGAGGAGCGGGCTGGAGGGGAAAGAG... | AGATCTCAACCAAATTTTGGGACATCAGGGATTCTCTGGAGTGGGGTGCTCCCAGGCCTCAGCAAATTGTCCTGTTTGAGCAATAAAAATAGCCCAAGCTGGTACCAAGCACTGATAGATTTGTCAAAGGTCAGGGCCACCTCCACTGAGTCACTTCCTTTGGCTGCCAGCTTGTAAACCAAAACCAGCTCTCAATCAATTTGGAAGTTTATTTTGCCAAGGTTAAGGACATGCTTGGGAGGGAGGTCTGTGCCTTTATCTAAAGATGATTTTGAGGGCTTCAATATTTAAAAGGGAGGAGCGGGCTGGAGGGGAAAGAG... | pathogenic | 266,278 |
Classify the chromosome 17 variant at position 19651544 affecting gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Sjögren-Larsson_syndrome'] | TAAGCCAAATTTAGCAGTGGGAGAGTTGCATACCAACTTGAATAACAGTAATATTAATAAGTTCTGAATAACCCATTACCATCAGACCAGCCTCTGGGTCTATTTCTTGTCTTTTAGCTTTGTTTATGGTTTCTTTGTTAGACAGAGTTTTGTTTTTAAGTTATAGTTGCAGTCAAATTTTTCTTCATAACTTTGTGTATTATTAGGTCAGTTCTCCTCAAATTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGG... | TAAGCCAAATTTAGCAGTGGGAGAGTTGCATACCAACTTGAATAACAGTAATATTAATAAGTTCTGAATAACCCATTACCATCAGACCAGCCTCTGGGTCTATTTCTTGTCTTTTAGCTTTGTTTATGGTTTCTTTGTTAGACAGAGTTTTGTTTTTAAGTTATAGTTGCAGTCAAATTTTTCTTCATAACTTTGTGTATTATTAGGTCAGTTCTCCTCAAATTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGG... | pathogenic | 266,281 |
Variant in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2), located at chromosome 17 position 19651675: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Sjögren-Larsson_syndrome'] | TCTTTGTTAGACAGAGTTTTGTTTTTAAGTTATAGTTGCAGTCAAATTTTTCTTCATAACTTTGTGTATTATTAGGTCAGTTCTCCTCAAATTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGGTCCCCAGTGATATCATATGCCTCTTTTGGAAGCACGCTTTGTGTAGCAAAGTTTTTATTGTTTTGATTTGTGTGTGTGGTTTTTTTGTTTGTTTGCTTGTTTTGTTTTGCTTTTAAGACGGAGTCTCACTG... | TCTTTGTTAGACAGAGTTTTGTTTTTAAGTTATAGTTGCAGTCAAATTTTTCTTCATAACTTTGTGTATTATTAGGTCAGTTCTCCTCAAATTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGGTCCCCAGTGATATCATATGCCTCTTTTGGAAGCACGCTTTGTGTAGCAAAGTTTTTATTGTTTTGATTTGTGTGTGTGGTTTTTTTGTTTGTTTGCTTGTTTTGTTTTGCTTTTAAGACGGAGTCTCACTG... | pathogenic | 266,283 |
For chromosome 17, position 19651756, gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Sjögren-Larsson_syndrome'] | TCTCCTCAAATTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGGTCCCCAGTGATATCATATGCCTCTTTTGGAAGCACGCTTTGTGTAGCAAAGTTTTTATTGTTTTGATTTGTGTGTGTGGTTTTTTTGTTTGTTTGCTTGTTTTGTTTTGCTTTTAAGACGGAGTCTCACTGTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCGATTCTCTTGCCT... | TCTCCTCAAATTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGGTCCCCAGTGATATCATATGCCTCTTTTGGAAGCACGCTTTGTGTAGCAAAGTTTTTATTGTTTTGATTTGTGTGTGTGGTTTTTTTGTTTGTTTGCTTGTTTTGTTTTGCTTTTAAGACGGAGTCTCACTGTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCGATTCTCTTGCCT... | pathogenic | 266,284 |
Gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2) variant at chromosome 17, position 19651766—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Sjögren-Larsson_syndrome'] | TTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGGTCCCCAGTGATATCATATGCCTCTTTTGGAAGCACGCTTTGTGTAGCAAAGTTTTTATTGTTTTGATTTGTGTGTGTGGTTTTTTTGTTTGTTTGCTTGTTTTGTTTTGCTTTTAAGACGGAGTCTCACTGTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTC... | TTTTAATGCACTAACAGTCACCTGGGGATCTTGTTAAAATGCAGATTATGGTTCAGTATGTCGGGGGTGGGATCTGAGATTCCAAGTTTCTAACAAGGTCCCCAGTGATATCATATGCCTCTTTTGGAAGCACGCTTTGTGTAGCAAAGTTTTTATTGTTTTGATTTGTGTGTGTGGTTTTTTTGTTTGTTTGCTTGTTTTGTTTTGCTTTTAAGACGGAGTCTCACTGTGTCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCATCTCTTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCTC... | pathogenic | 266,285 |
A genetic alteration at chromosome 17, position 19652631, in gene ALDH3A2 (aldehyde dehydrogenase 3 family member A2)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Sjögren-Larsson_syndrome'] | AGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCCACCGTGCCTGGCCTATCATCTTGTTTTTACTTTTTATCTGCATTACATGTGTAGCAAGGCTTTGCTCTGGGTTTGTGATTTTTCCCTTCCCCACAATCCCCTCAATCAAAGATTATTTTAATAAGTCGTAATAGTGGTAGTACTAGTAGCAACTATGAAATTT... | AGCTGGGACTACAGGCGCCCGCCACCGTGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGACGTGAGCCACCGTGCCTGGCCTATCATCTTGTTTTTACTTTTTATCTGCATTACATGTGTAGCAAGGCTTTGCTCTGGGTTTGTGATTTTTCCCTTCCCCACAATCCCCTCAATCAAAGATTATTTTAATAAGTCGTAATAGTGGTAGTACTAGTAGCAACTATGAAATTT... | pathogenic | 266,289 |
Assess the variant on chromosome 17, position 19656464, impacting ALDH3A2 (aldehyde dehydrogenase 3 family member A2): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Sjögren-Larsson_syndrome'] | TGGGGGCCTTGGGCATGGCGGGCTGCAGGTCCCGAGCCCTGCCCTGCGGGGAGGTGGCTGAGGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCA... | TGGGGGCCTTGGGCATGGCGGGCTGCAGGTCCCGAGCCCTGCCCTGCGGGGAGGTGGCTGAGGCCCGGCGAGAATTCGAGTGTGGCGCTGGTGGGCTGGCATTGCTGGGGGACCCGGGGCACCCTCCTCAGCAGCTGGCCCAGGTGCTAAGCCCCTCATTGCCCAGGGCTGGCGGCGCCGGCCAGCTGCTCCGAGTGTGGGGCCCATTGAGCCTGCGCCCACCCAGAACTCGCTCTGGCTTGTGAGCGCCACGCGCAGCCCCGGTTCCTGCCTGCGCCTCTCCCTCCACACCTTCCCACAAGCAGAAGGAGCCGGCTCCA... | pathogenic | 266,300 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.