question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
A genetic variant on chromosome 1, position 216000436, affects the gene USH2A (usherin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Retinitis_pigmentosa_39'] | GTTTTATTAAGTGACTGTTCTTCTGAGATAGGAGCATAATATAAACCAGAATGTAATAACAATCAAGAATATTTGACGGTCATTTAAACTTCCATTTAAAAATATAAGATCTAAATTTTCATACTGTGCATTGTTTTTTAAATGAATACAAATGCCACAGGGAAATAACCTTATGAATCCTAGCACTTTAGAAAAAGTTCTTAACAATTATGATGTTCTACAAGTAATTTTGAAAATCTTGATAATCCCAACTTTGACTTGGGAAAATCTACTGACTCAGGGTGTTATTCTATCATTTGCATAATATAAAATAAATGTGT... | GTTTTATTAAGTGACTGTTCTTCTGAGATAGGAGCATAATATAAACCAGAATGTAATAACAATCAAGAATATTTGACGGTCATTTAAACTTCCATTTAAAAATATAAGATCTAAATTTTCATACTGTGCATTGTTTTTTAAATGAATACAAATGCCACAGGGAAATAACCTTATGAATCCTAGCACTTTAGAAAAAGTTCTTAACAATTATGATGTTCTACAAGTAATTTTGAAAATCTTGATAATCCCAACTTTGACTTGGGAAAATCTACTGACTCAGGGTGTTATTCTATCATTTGCATAATATAAAATAAATGTGT... | pathogenic | 22,420 |
Gene USH2A (usherin) variant at chromosome 1, position 216000555—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CATACTGTGCATTGTTTTTTAAATGAATACAAATGCCACAGGGAAATAACCTTATGAATCCTAGCACTTTAGAAAAAGTTCTTAACAATTATGATGTTCTACAAGTAATTTTGAAAATCTTGATAATCCCAACTTTGACTTGGGAAAATCTACTGACTCAGGGTGTTATTCTATCATTTGCATAATATAAAATAAATGTGTAGGTATTAGATCACCAGAATTCACATTTAGGATGGGAAGAGAGTTTTCAGTATAAACAGCAATACATGAAGATTTTGACTTTTTTTTTTTTAAGTGAGAGAGAAAGAAAAGATGGACCA... | CATACTGTGCATTGTTTTTTAAATGAATACAAATGCCACAGGGAAATAACCTTATGAATCCTAGCACTTTAGAAAAAGTTCTTAACAATTATGATGTTCTACAAGTAATTTTGAAAATCTTGATAATCCCAACTTTGACTTGGGAAAATCTACTGACTCAGGGTGTTATTCTATCATTTGCATAATATAAAATAAATGTGTAGGTATTAGATCACCAGAATTCACATTTAGGATGGGAAGAGAGTTTTCAGTATAAACAGCAATACATGAAGATTTTGACTTTTTTTTTTTTAAGTGAGAGAGAAAGAAAAGATGGACCA... | pathogenic | 22,428 |
Chromosome 1, position 216046453, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAAGATGTAATATATGTAAAGTTCCTTCCATGGTGTGATTTAATTTTTTCTGAAATAACTTCTGTGGTTTATAATTTTTAGTTAAAATCATGCCATAAGATACTGTTGGAGTAAGATTAACCTATTCAGTTTTTACAATGAACTCTGTGTTGTACAGGAGATAACAATTATAACTTCTCTTTACCAATTGCTAATGACATGTTATATTTTATATATAGTTCTAATTCTCTTTAAAATACTGGAAAATGTAATTAACACCATTTTACAAATTCAGAAACTAAGACAAGTTAAAACACTTGTTTTTAAGACCACATTCTTCA... | AAAGATGTAATATATGTAAAGTTCCTTCCATGGTGTGATTTAATTTTTTCTGAAATAACTTCTGTGGTTTATAATTTTTAGTTAAAATCATGCCATAAGATACTGTTGGAGTAAGATTAACCTATTCAGTTTTTACAATGAACTCTGTGTTGTACAGGAGATAACAATTATAACTTCTCTTTACCAATTGCTAATGACATGTTATATTTTATATATAGTTCTAATTCTCTTTAAAATACTGGAAAATGTAATTAACACCATTTTACAAATTCAGAAACTAAGACAAGTTAAAACACTTGTTTTTAAGACCACATTCTTCA... | pathogenic | 22,434 |
Clinical significance of chromosome 1, position 216046577, gene USH2A (usherin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTCAGTTTTTACAATGAACTCTGTGTTGTACAGGAGATAACAATTATAACTTCTCTTTACCAATTGCTAATGACATGTTATATTTTATATATAGTTCTAATTCTCTTTAAAATACTGGAAAATGTAATTAACACCATTTTACAAATTCAGAAACTAAGACAAGTTAAAACACTTGTTTTTAAGACCACATTCTTCAACACAGCCGGAATGCTTGGGTTAGTACCAAAGCCTCCGACTCAAGCTGTGTGACCTTGGGTTACTTAATCCTTCTTTCCCTCAGTTTCTTCACTTGTAAAATTGGGGTGTAAAATAATACCTAT... | TTCAGTTTTTACAATGAACTCTGTGTTGTACAGGAGATAACAATTATAACTTCTCTTTACCAATTGCTAATGACATGTTATATTTTATATATAGTTCTAATTCTCTTTAAAATACTGGAAAATGTAATTAACACCATTTTACAAATTCAGAAACTAAGACAAGTTAAAACACTTGTTTTTAAGACCACATTCTTCAACACAGCCGGAATGCTTGGGTTAGTACCAAAGCCTCCGACTCAAGCTGTGTGACCTTGGGTTACTTAATCCTTCTTTCCCTCAGTTTCTTCACTTGTAAAATTGGGGTGTAAAATAATACCTAT... | pathogenic | 22,442 |
Mutation found at chromosome 1 position 216048537, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | ACAGTACTGAGTTATAATACCATTTGCCTTTTTGGGTGGGTTCCAGGAGAGCAGCAAAGAACTGGGAAGGGATTTGGCTACTGGTGGCTGAACCTCTTGTGGGGCTGTGGAAGAAAAGATTTATAGAGTCTAATTTTAGTTTACTTTTCTAATTCAAACTTTTCAGACCCAAACCAATAAATCATGGAATAAACCTGAAATCCCATGCATGGAAATATTCCCGATTCGTGGGCAGCTTGTCAGTAATTGCTTTAGGAACAGTGTTAAATAACTGTCCCACATTTATGAGAATTTGTGTCAATGATGGATGAGGAGTACTT... | ACAGTACTGAGTTATAATACCATTTGCCTTTTTGGGTGGGTTCCAGGAGAGCAGCAAAGAACTGGGAAGGGATTTGGCTACTGGTGGCTGAACCTCTTGTGGGGCTGTGGAAGAAAAGATTTATAGAGTCTAATTTTAGTTTACTTTTCTAATTCAAACTTTTCAGACCCAAACCAATAAATCATGGAATAAACCTGAAATCCCATGCATGGAAATATTCCCGATTCGTGGGCAGCTTGTCAGTAATTGCTTTAGGAACAGTGTTAAATAACTGTCCCACATTTATGAGAATTTGTGTCAATGATGGATGAGGAGTACTT... | pathogenic | 22,446 |
Gene mutation in USH2A (usherin) at chromosome 1, position 216048568—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TTGGGTGGGTTCCAGGAGAGCAGCAAAGAACTGGGAAGGGATTTGGCTACTGGTGGCTGAACCTCTTGTGGGGCTGTGGAAGAAAAGATTTATAGAGTCTAATTTTAGTTTACTTTTCTAATTCAAACTTTTCAGACCCAAACCAATAAATCATGGAATAAACCTGAAATCCCATGCATGGAAATATTCCCGATTCGTGGGCAGCTTGTCAGTAATTGCTTTAGGAACAGTGTTAAATAACTGTCCCACATTTATGAGAATTTGTGTCAATGATGGATGAGGAGTACTTACACTAGTTCACTTGACTGATGCTTGTGTTA... | TTGGGTGGGTTCCAGGAGAGCAGCAAAGAACTGGGAAGGGATTTGGCTACTGGTGGCTGAACCTCTTGTGGGGCTGTGGAAGAAAAGATTTATAGAGTCTAATTTTAGTTTACTTTTCTAATTCAAACTTTTCAGACCCAAACCAATAAATCATGGAATAAACCTGAAATCCCATGCATGGAAATATTCCCGATTCGTGGGCAGCTTGTCAGTAATTGCTTTAGGAACAGTGTTAAATAACTGTCCCACATTTATGAGAATTTGTGTCAATGATGGATGAGGAGTACTTACACTAGTTCACTTGACTGATGCTTGTGTTA... | pathogenic | 22,449 |
Does the variant impacting USH2A (usherin) on chromosome 1, position 216070120, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_39'] | TATTTCTAGAAATGATGAAAGAGTTACTGTGGAGAATGCTGAAGAGTGGTGAAGACATAGAGTGTCAAGTGTTTTTTGCCTATGTAAACATGGCAGTTTTTGGTGCTCGTCACGAAAGTAATGAGCAGAAGCCAGTTAAGTGAGGACAAAATGAGCTTAGATACTTCATGCTAGACGAAGGCCGAGAGGAGGAGAGAGGGAGCAATAGCTGGGAGTTTGGACAGAATTAAGATTTTTGTGATTGGTTTGGGTTAGTGTGTTGGTTTTTAACAATGGGAGATAAAAGAGTTTGAATGACCCTGGGAAGAATCCACCCAGTC... | TATTTCTAGAAATGATGAAAGAGTTACTGTGGAGAATGCTGAAGAGTGGTGAAGACATAGAGTGTCAAGTGTTTTTTGCCTATGTAAACATGGCAGTTTTTGGTGCTCGTCACGAAAGTAATGAGCAGAAGCCAGTTAAGTGAGGACAAAATGAGCTTAGATACTTCATGCTAGACGAAGGCCGAGAGGAGGAGAGAGGGAGCAATAGCTGGGAGTTTGGACAGAATTAAGATTTTTGTGATTGGTTTGGGTTAGTGTGTTGGTTTTTAACAATGGGAGATAAAAGAGTTTGAATGACCCTGGGAAGAATCCACCCAGTC... | pathogenic | 22,459 |
Clinical significance of chromosome 1, position 216070216, gene USH2A (usherin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | TTTTTGGTGCTCGTCACGAAAGTAATGAGCAGAAGCCAGTTAAGTGAGGACAAAATGAGCTTAGATACTTCATGCTAGACGAAGGCCGAGAGGAGGAGAGAGGGAGCAATAGCTGGGAGTTTGGACAGAATTAAGATTTTTGTGATTGGTTTGGGTTAGTGTGTTGGTTTTTAACAATGGGAGATAAAAGAGTTTGAATGACCCTGGGAAGAATCCACCCAGTCAGTGGTTCTCAAATGCTGGCATACATCAGATGTATCTGGGGGCTTGTTAAAACAAGGACTGCTGAGCCACACTGCAGAGTGTCTGATTTGGCGGGT... | TTTTTGGTGCTCGTCACGAAAGTAATGAGCAGAAGCCAGTTAAGTGAGGACAAAATGAGCTTAGATACTTCATGCTAGACGAAGGCCGAGAGGAGGAGAGAGGGAGCAATAGCTGGGAGTTTGGACAGAATTAAGATTTTTGTGATTGGTTTGGGTTAGTGTGTTGGTTTTTAACAATGGGAGATAAAAGAGTTTGAATGACCCTGGGAAGAATCCACCCAGTCAGTGGTTCTCAAATGCTGGCATACATCAGATGTATCTGGGGGCTTGTTAAAACAAGGACTGCTGAGCCACACTGCAGAGTGTCTGATTTGGCGGGT... | pathogenic | 22,462 |
The mutation impacting USH2A (usherin) on chromosome 1 at position 216070272: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | GAGCTTAGATACTTCATGCTAGACGAAGGCCGAGAGGAGGAGAGAGGGAGCAATAGCTGGGAGTTTGGACAGAATTAAGATTTTTGTGATTGGTTTGGGTTAGTGTGTTGGTTTTTAACAATGGGAGATAAAAGAGTTTGAATGACCCTGGGAAGAATCCACCCAGTCAGTGGTTCTCAAATGCTGGCATACATCAGATGTATCTGGGGGCTTGTTAAAACAAGGACTGCTGAGCCACACTGCAGAGTGTCTGATTTGGCGGGTGTGGGGTGGGCAGGGCAGGAGAATGTGCATTAGTAATAAGTTCCCAAGTGAAGCTA... | GAGCTTAGATACTTCATGCTAGACGAAGGCCGAGAGGAGGAGAGAGGGAGCAATAGCTGGGAGTTTGGACAGAATTAAGATTTTTGTGATTGGTTTGGGTTAGTGTGTTGGTTTTTAACAATGGGAGATAAAAGAGTTTGAATGACCCTGGGAAGAATCCACCCAGTCAGTGGTTCTCAAATGCTGGCATACATCAGATGTATCTGGGGGCTTGTTAAAACAAGGACTGCTGAGCCACACTGCAGAGTGTCTGATTTGGCGGGTGTGGGGTGGGCAGGGCAGGAGAATGTGCATTAGTAATAAGTTCCCAAGTGAAGCTA... | pathogenic | 22,465 |
A genetic alteration at chromosome 1, position 216072909, in gene USH2A—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GGGGGTGGGGTAAAGGAGCTGGTGCCTTTGAGATTCTACAAAGTCATTTTCAAAGTCTTGTTCTGCAGAATATTTCAAAATAATATCACAAAATGAGGAAGTTTAAAAGAACTGCAAAACCTTACTTACAAGCTGAGCCCCCTAATTTAAAAAATCTATTACCTTTAACTATTTATTAGACATTTCTACAGTTCTGATCAGTAAAAACTTCATCACAGCTGAGTGCACTGGGGACACAAAGAAAGAGCCCAAGGAACTCCGTGGCAGGATGATGGATGAGAGACCTGCTCTAGCTGCTCATGGACTCCTGAGCCCTGTCG... | GGGGGTGGGGTAAAGGAGCTGGTGCCTTTGAGATTCTACAAAGTCATTTTCAAAGTCTTGTTCTGCAGAATATTTCAAAATAATATCACAAAATGAGGAAGTTTAAAAGAACTGCAAAACCTTACTTACAAGCTGAGCCCCCTAATTTAAAAAATCTATTACCTTTAACTATTTATTAGACATTTCTACAGTTCTGATCAGTAAAAACTTCATCACAGCTGAGTGCACTGGGGACACAAAGAAAGAGCCCAAGGAACTCCGTGGCAGGATGATGGATGAGAGACCTGCTCTAGCTGCTCATGGACTCCTGAGCCCTGTCG... | pathogenic | 22,472 |
Is the genetic change at chromosome 1, position 216073259, within gene USH2A benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'USH2A-related_disorder', 'Usher_syndrome_type_2A'] | AATCTCCTCCTCTCCGACTTTACTGTCCAGACCAATAAAGTAGGACAGCTTTAAGGGAAACAAAGTGAACATAAAAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAA... | AATCTCCTCCTCTCCGACTTTACTGTCCAGACCAATAAAGTAGGACAGCTTTAAGGGAAACAAAGTGAACATAAAAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAA... | pathogenic | 22,484 |
Chromosome 1, position 216073259, gene USH2A: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_39'] | AATCTCCTCCTCTCCGACTTTACTGTCCAGACCAATAAAGTAGGACAGCTTTAAGGGAAACAAAGTGAACATAAAAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAA... | AATCTCCTCCTCTCCGACTTTACTGTCCAGACCAATAAAGTAGGACAGCTTTAAGGGAAACAAAGTGAACATAAAAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAA... | pathogenic | 22,485 |
Does the genetic variant at chromosome 1, position 216073333, impacting gene USH2A, appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | AAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAACCCTTGGGAGCATGTAGCTGCTCAGTGTTGTGGTCAGATTGTAAATATGAATTTATGGCATAGGGCTGTGGTCA... | AAGATAAGAGGAAACACCAAAGGGGAGAACCACTCTCTGAGCAGTTAAAACACTACAGACACCTATAGAAAACACACAGGCCACAAGATCGAGTTGCAAGGAAAGGGACAATGGGAGTGACGCTGATTTTATTAGTTCGGAAATGTGGTACAGGGCAAAGTACAGTACAGTCTAACAGATGGTCTTCTCATAAGGGACAGAGCAAAACTGACTCAAAAATAATTAAATAGTGCAATTATTCTCCAACCCTTGGGAGCATGTAGCTGCTCAGTGTTGTGGTCAGATTGTAAATATGAATTTATGGCATAGGGCTGTGGTCA... | benign | 22,491 |
Variant on chromosome 1, at position 216078106, affecting USH2A: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Usher_syndrome_type_2A'] | CTGATCACCGTATAAAACATGCAGCTATTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCT... | CTGATCACCGTATAAAACATGCAGCTATTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCT... | pathogenic | 22,496 |
Gene mutation in USH2A at chromosome 1, position 216078109—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | ATCACCGTATAAAACATGCAGCTATTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTG... | ATCACCGTATAAAACATGCAGCTATTTATATAGATCAGTGTCTCTCAAGGCATCTGAGTCAGAATCTTAGGGGACAGGGGTCCCTAACATCTGTATTTTTAATAACCATTCCAGGTGATGTCAATGTATCTTGAATAGTAAAAATAATGGCTAATTTTGACTTCTACGTTCCAGCTACCATACGTCAATATTTTTTCAGTGTTTTGAGACCACTGATATGGATGATACTACAGTAATAAAAATTTAATATTACTCACTAATAAAATATCTTCCAGTATCACAGACTTAGTCATAGTGTGTAGGTAAAATTATTCCCTTTG... | pathogenic | 22,497 |
Mutation at chromosome 1, position 216083475, within USH2A: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAAGAGTTGTTGAGGGGTAATCTGGGAGCAGCCTCAGTCCTCAGATATGGCAGACCGTAATGTTAAGTTTTATGAAAGACTGCTTCCTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGC... | AAAGAGTTGTTGAGGGGTAATCTGGGAGCAGCCTCAGTCCTCAGATATGGCAGACCGTAATGTTAAGTTTTATGAAAGACTGCTTCCTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGC... | pathogenic | 22,514 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 216083535, gene USH2A. What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TGTTAAGTTTTATGAAAGACTGCTTCCTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGCTAACTTTTTATTTTTATTTTTATTTTCATAGAAAAAGGGTCTCACTATATTGCCCAGGCT... | TGTTAAGTTTTATGAAAGACTGCTTCCTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGCTAACTTTTTATTTTTATTTTTATTTTCATAGAAAAAGGGTCTCACTATATTGCCCAGGCT... | pathogenic | 22,515 |
Is the genetic variant on chromosome 1, position 216083561, gene USH2A, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Usher_syndrome_type_2A'] | CTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGCTAACTTTTTATTTTTATTTTTATTTTCATAGAAAAAGGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTACTGGCCTCAAGCTA... | CTTTCAGTTGCATGGGAAGTGTTAAAAGAAAGCCAAGCACATAATAGGCACTCCGTATATATTTATCTAAGTGTATTGATTTTTTTTTGTTTTGTTTGTTTTGAGACAGAGCTCTCTTGCCCAGGCTGGAGTGCAGAGGTGCAATCACAGGTCACTGCAGCCTTCGACTCCCAGTCTTCAGCAATCCTCTTGCCTCAGCTTCCCGAGTAGCTGGAACTAGCTACAGTGTCTGGCTAACTTTTTATTTTTATTTTTATTTTCATAGAAAAAGGGTCTCACTATATTGCCCAGGCTGGTCTCGAACTACTGGCCTCAAGCTA... | pathogenic | 22,516 |
Does the variant on chromosome 1 at location 216084781 affecting gene USH2A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TCATTGAAGCAAAACATGGGAACAACCAATACATCATTGGTAAGAGAAGAGAAATACTACACAGCCAAGAAAATGTATACCTATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAAAGGAGATGGAAACAAGATAGGAAAGACTTTATAGATAGACCAAAAATGATAATATTCAGTTATCAGGCG... | TCATTGAAGCAAAACATGGGAACAACCAATACATCATTGGTAAGAGAAGAGAAATACTACACAGCCAAGAAAATGTATACCTATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAAAGGAGATGGAAACAAGATAGGAAAGACTTTATAGATAGACCAAAAATGATAATATTCAGTTATCAGGCG... | pathogenic | 22,522 |
Clinically, how would you classify the variant at chromosome 1, position 216084863, gene USH2A: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39'] | ATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAAAGGAGATGGAAACAAGATAGGAAAGACTTTATAGATAGACCAAAAATGATAATATTCAGTTATCAGGCGTGGTGGTAGGTCCAGGAGTGTTCACTATATTATTATACTTGATTATCTATATGTCATATGAAAAATATATAATATATATGCT... | ATGTGGACACATAAATGACTCAGAAACAATGTTGAGTGCTAAAGAGAGAGTATAAAACCAATTTTATAAATTTCAAAAGCAAGAATTTGTAGGCATTCATTAGGTGTTCAAACTATAAAAATGCATGTGAATAACAAATACAAAATTCTGATTACCTATGACATCTGAAAGGAGATGGAAACAAGATAGGAAAGACTTTATAGATAGACCAAAAATGATAATATTCAGTTATCAGGCGTGGTGGTAGGTCCAGGAGTGTTCACTATATTATTATACTTGATTATCTATATGTCATATGAAAAATATATAATATATATGCT... | pathogenic | 22,527 |
A genetic variant at chromosome 1, position 216086798, affecting gene USH2A—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | GCTGTTATACACGTTGATTTGTTCTTCAGAACTCTGCCAATCCAGAGGTTCCCAAATAGCTGACGGATTGTAATTCTTCATAAAATGTACATCCTTGAGACAGCCCACAAAACCTTTTTGGATTATCTCTGCAGGAGTTTATAGATATCAAGAAATATATATTTTGAAAGATTATTTTCAAGCAATTAATTTTATGTGCCATTAAAGTCAAAGAAATAGGCACTAGCTCTCACTACCTATTTACTGCAAGCCTCTTAATGATTCATGTAAACACCACACCATCAGCTATAGTAAATGATAGCAATTATAATGTTTAGTGC... | GCTGTTATACACGTTGATTTGTTCTTCAGAACTCTGCCAATCCAGAGGTTCCCAAATAGCTGACGGATTGTAATTCTTCATAAAATGTACATCCTTGAGACAGCCCACAAAACCTTTTTGGATTATCTCTGCAGGAGTTTATAGATATCAAGAAATATATATTTTGAAAGATTATTTTCAAGCAATTAATTTTATGTGCCATTAAAGTCAAAGAAATAGGCACTAGCTCTCACTACCTATTTACTGCAAGCCTCTTAATGATTCATGTAAACACCACACCATCAGCTATAGTAAATGATAGCAATTATAATGTTTAGTGC... | pathogenic | 22,534 |
Determine if the mutation at chromosome 1, position 216089079 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCTCTTCCTTTCTCTACCCATAGGCACCCCCTAAGTACTCTAGAGGGATGAATAGTGGGCTGGGTTCCAGTACGAACTGCCAGGGCCAAAGGCCAGGGGAACCTGGGTCTCTGACTGTGTGGCATAACAATGGAAATCCCTGTTCATATTTCTAATGCCCACCTTCTTTGAGAGAAGAGGCAAAGTTATTTGTGTTTGTTTTTCCAGAGCCCAATCCACTCCAATTAGCCCTACTTACATCTGTTCCCTTGGCTTTCAATACCATCCTTTGCTGGAAGTTCTGACTTCAGAACTAGACTTGTTTCTTGAGCAGCCTGCCT... | CCTCTTCCTTTCTCTACCCATAGGCACCCCCTAAGTACTCTAGAGGGATGAATAGTGGGCTGGGTTCCAGTACGAACTGCCAGGGCCAAAGGCCAGGGGAACCTGGGTCTCTGACTGTGTGGCATAACAATGGAAATCCCTGTTCATATTTCTAATGCCCACCTTCTTTGAGAGAAGAGGCAAAGTTATTTGTGTTTGTTTTTCCAGAGCCCAATCCACTCCAATTAGCCCTACTTACATCTGTTCCCTTGGCTTTCAATACCATCCTTTGCTGGAAGTTCTGACTTCAGAACTAGACTTGTTTCTTGAGCAGCCTGCCT... | pathogenic | 22,540 |
Benign or pathogenic: chromosome 1, position 216097081, gene USH2A (usherin) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AGAATAATGCCTGGCACAAAGAGGTCTCATAGAAGTATTAGTTTTGCTTAATCTTGACAGGAAATTGATGAGTCTTTTCAATGGATTTATACTAAATTCCCTCTTAAATCAGATATTCTCTCCTATTTTTTGTTTCATCATTTTATGTTATCCCTCTTTTTCTTGAGCATGTGCTTTTTGTTCTCCTTCCGATTCGCTTCTTAGTGACAGTAGTAGTATCTAACTTTCTTGTTTTTGTCACATTTTTATGTATTTTGAGAGATTTCTTCAACTTAATCTTCTGACCTACTAATCTGAGGCTCAGTGTCTCTCCTCTAATT... | AGAATAATGCCTGGCACAAAGAGGTCTCATAGAAGTATTAGTTTTGCTTAATCTTGACAGGAAATTGATGAGTCTTTTCAATGGATTTATACTAAATTCCCTCTTAAATCAGATATTCTCTCCTATTTTTTGTTTCATCATTTTATGTTATCCCTCTTTTTCTTGAGCATGTGCTTTTTGTTCTCCTTCCGATTCGCTTCTTAGTGACAGTAGTAGTATCTAACTTTCTTGTTTTTGTCACATTTTTATGTATTTTGAGAGATTTCTTCAACTTAATCTTCTGACCTACTAATCTGAGGCTCAGTGTCTCTCCTCTAATT... | pathogenic | 22,542 |
Chromosome 1, position 216097168, gene USH2A (usherin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_39'] | TATACTAAATTCCCTCTTAAATCAGATATTCTCTCCTATTTTTTGTTTCATCATTTTATGTTATCCCTCTTTTTCTTGAGCATGTGCTTTTTGTTCTCCTTCCGATTCGCTTCTTAGTGACAGTAGTAGTATCTAACTTTCTTGTTTTTGTCACATTTTTATGTATTTTGAGAGATTTCTTCAACTTAATCTTCTGACCTACTAATCTGAGGCTCAGTGTCTCTCCTCTAATTAATCTACTTAAAGTTTTCAAATAAAAAATAATATCTTCCATTATGTAATTGAATCAACTTCAGCTGATTTTTTAAAAATTTTTTTCA... | TATACTAAATTCCCTCTTAAATCAGATATTCTCTCCTATTTTTTGTTTCATCATTTTATGTTATCCCTCTTTTTCTTGAGCATGTGCTTTTTGTTCTCCTTCCGATTCGCTTCTTAGTGACAGTAGTAGTATCTAACTTTCTTGTTTTTGTCACATTTTTATGTATTTTGAGAGATTTCTTCAACTTAATCTTCTGACCTACTAATCTGAGGCTCAGTGTCTCTCCTCTAATTAATCTACTTAAAGTTTTCAAATAAAAAATAATATCTTCCATTATGTAATTGAATCAACTTCAGCTGATTTTTTAAAAATTTTTTTCA... | pathogenic | 22,548 |
Variant at chromosome position 216175368, chromosome 1, gene USH2A (usherin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | GTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTAACTTTTTTAAAGAGGAATTTGGAAAACTTCCCAGACACTGCATCTGCCCCTAGCCCTTGCACCTC... | GTTAAAGGGGTCTTAAAAGTAAAGCCAAGCTACCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTAACTTTTTTAAAGAGGAATTTGGAAAACTTCCCAGACACTGCATCTGCCCCTAGCCCTTGCACCTC... | pathogenic | 22,563 |
Is the genetic variant on chromosome 1, position 216175400, gene USH2A (usherin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa_39'] | CCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTAACTTTTTTAAAGAGGAATTTGGAAAACTTCCCAGACACTGCATCTGCCCCTAGCCCTTGCACCTCAGAGTATAAGGCCAGCAAGGGAGATAGCGAGG... | CCACTAAAAAGGGCATCAGCAATGTCCCAGAACATGCCTGAACACAGAAGAACTTCTCATTCTCCAGGAATCACCAAAGCTCCAGGGAGTAGTTCAAGCCAAAATTGTGATCTCCCTGCCTTGTCCTTCAAATGGTGTGTACTCCAAGCATATTTTCTGTGCAGCTGGAGGCTTTGTTATAGACAGAAGGATCCTGCTTAGTGAGGCCAGTGTTTACAGCCTAACTTTTTTAAAGAGGAATTTGGAAAACTTCCCAGACACTGCATCTGCCCCTAGCCCTTGCACCTCAGAGTATAAGGCCAGCAAGGGAGATAGCGAGG... | pathogenic | 22,564 |
Is the genetic mutation found on chromosome 1 at position 216190279, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'USH2A-related_disorder', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | GCACAGATGTTACCACTAATGCATAGGGCAGGCAGATTCTATTCTGTAGACATGTTTCCTGCTCTTCTATTCCCATCTCCATGATCCAGCTAGTTTCTAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGA... | GCACAGATGTTACCACTAATGCATAGGGCAGGCAGATTCTATTCTGTAGACATGTTTCCTGCTCTTCTATTCCCATCTCCATGATCCAGCTAGTTTCTAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGA... | pathogenic | 22,572 |
Gene mutation in USH2A (usherin) at chromosome 1, position 216190341—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TCTTCTATTCCCATCTCCATGATCCAGCTAGTTTCTAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAGTAGAATAAGAATGTTGAGTAGAAGTTACTAGGAGATATTTTTGACCA... | TCTTCTATTCCCATCTCCATGATCCAGCTAGTTTCTAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAGTAGAATAAGAATGTTGAGTAGAAGTTACTAGGAGATATTTTTGACCA... | pathogenic | 22,576 |
Variant in USH2A (usherin), chromosome 1, position 216190376—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | TAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAGTAGAATAAGAATGTTGAGTAGAAGTTACTAGGAGATATTTTTGACCAATCTAAGAAATCACATTCTAAAAGAGGTATCTAAA... | TAGGGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAGTAGAATAAGAATGTTGAGTAGAAGTTACTAGGAGATATTTTTGACCAATCTAAGAAATCACATTCTAAAAGAGGTATCTAAA... | benign | 22,578 |
Determine if the mutation at chromosome 1, position 216190379 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | GGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAGTAGAATAAGAATGTTGAGTAGAAGTTACTAGGAGATATTTTTGACCAATCTAAGAAATCACATTCTAAAAGAGGTATCTAAAGAT... | GGACGGGCATGTCTCTCTTCAGGTTCTTTAGTTTGCTTATATCTATGAAAAGGCAGACTAGATCTCATCTACAAGAATTATACTAATAACAGCTCTAGACACTATTGCATATGAGGTTCAGATGGGAACCACCATGATATGCAGCCTAAAGGAGAAAAGACTTGGGTGGATATAATGTTATTGAAAATGTTATTGGAAGGATGATAAATTAGGTTAACGACAGCCCCCAAGGAAGTAGAATAAGAATGTTGAGTAGAAGTTACTAGGAGATATTTTTGACCAATCTAAGAAATCACATTCTAAAAGAGGTATCTAAAGAT... | benign | 22,579 |
The chromosome 1, position 216196551 genetic variant in gene USH2A: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | TATCGATAGCATCATATTAAATGAATCAGACAAACAAGAAATGGTAGGTATGCAGAGGTAAGACATATGTGTTCTAGAAAGTGAGACAGCAATATTATGAAGATTAAGGAATCTACCATATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATG... | TATCGATAGCATCATATTAAATGAATCAGACAAACAAGAAATGGTAGGTATGCAGAGGTAAGACATATGTGTTCTAGAAAGTGAGACAGCAATATTATGAAGATTAAGGAATCTACCATATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATG... | pathogenic | 22,580 |
Gene mutation in USH2A at chromosome 1, position 216196610—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAGACATATGTGTTCTAGAAAGTGAGACAGCAATATTATGAAGATTAAGGAATCTACCATATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTG... | AAGACATATGTGTTCTAGAAAGTGAGACAGCAATATTATGAAGATTAAGGAATCTACCATATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTG... | pathogenic | 22,586 |
Variant in gene USH2A, located at chromosome 1 position 216196669: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'Usher_syndrome_type_2A'] | TATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTGGTACAGGCAGATGAGCCACTTGGGACATAACATGTAGTAATTTTTACAGCACTAGAGGT... | TATCAGTGAAGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTGGTACAGGCAGATGAGCCACTTGGGACATAACATGTAGTAATTTTTACAGCACTAGAGGT... | pathogenic | 22,588 |
Variant chromosome 1, position 216196678, gene USH2A: benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa_39'] | AGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTGGTACAGGCAGATGAGCCACTTGGGACATAACATGTAGTAATTTTTACAGCACTAGAGGTAAGCATTGT... | AGTTTTTAGGAGTTCAAGTGGCCTGAGACATGCTAGGATATCCCCTCCAAAATAAAGGACAAATTATTGCACCTTGCTTCTACCACCACTAAGAAGGAAACAAAATGTCTAGTTGACCTCTTCACATTCTGAAGGGAGCATATTCCACATTTGAGAATACTGTTCTGAGAAATTTACTGAGTAATATGGAATGCTGCCAGTTTTGAGTGTATCCCAGAGGCGGAAAGGGCTCTGCACCAGGTCCAGCCTGTGGTACAGGCAGATGAGCCACTTGGGACATAACATGTAGTAATTTTTACAGCACTAGAGGTAAGCATTGT... | pathogenic | 22,590 |
Does the chromosome 1 mutation at position 216198349 within gene USH2A classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CATGATAAATGGAAAAAAAACAAGTCTTATGAAATAAATTATACCAACTTAGTTTCAATATATGATTATACTGGAAAAATACAAGTGACATACAAAGAGGGAGGCTTGTACACATAATATTATATTAAGAAAAAATGCCCTGTTTAATCAATATAGAGGGAGAATTCTGTCACAGAATTCTGCAAACTCAAAAAATGTCCAAATGAAGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCA... | CATGATAAATGGAAAAAAAACAAGTCTTATGAAATAAATTATACCAACTTAGTTTCAATATATGATTATACTGGAAAAATACAAGTGACATACAAAGAGGGAGGCTTGTACACATAATATTATATTAAGAAAAAATGCCCTGTTTAATCAATATAGAGGGAGAATTCTGTCACAGAATTCTGCAAACTCAAAAAATGTCCAAATGAAGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCA... | pathogenic | 22,595 |
Variant in gene USH2A, located at chromosome 1 position 216198461: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Usher_syndrome_type_2A'] | CATAATATTATATTAAGAAAAAATGCCCTGTTTAATCAATATAGAGGGAGAATTCTGTCACAGAATTCTGCAAACTCAAAAAATGTCCAAATGAAGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTTGTAACATTATCTGCTGGCTTCTCCCAGGAGATATTGAGAGAGTACGAAGAGAGGGGAAAGACTGAAGGAGGGATCATGAATACAGGTGCTATCAATGA... | CATAATATTATATTAAGAAAAAATGCCCTGTTTAATCAATATAGAGGGAGAATTCTGTCACAGAATTCTGCAAACTCAAAAAATGTCCAAATGAAGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTTGTAACATTATCTGCTGGCTTCTCCCAGGAGATATTGAGAGAGTACGAAGAGAGGGGAAAGACTGAAGGAGGGATCATGAATACAGGTGCTATCAATGA... | pathogenic | 22,598 |
Regarding the variant at chromosome 1 and position 216198555, affecting gene USH2A: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa_39'] | AGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTTGTAACATTATCTGCTGGCTTCTCCCAGGAGATATTGAGAGAGTACGAAGAGAGGGGAAAGACTGAAGGAGGGATCATGAATACAGGTGCTATCAATGAGAACAATAACAATAACATCAAAACAATGAATGTCGTCCCTATATATTTTTAAATTTAATTCACACATTCATTTAGTTTCTGAAATACCTTTACC... | AGCCCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTTGTAACATTATCTGCTGGCTTCTCCCAGGAGATATTGAGAGAGTACGAAGAGAGGGGAAAGACTGAAGGAGGGATCATGAATACAGGTGCTATCAATGAGAACAATAACAATAACATCAAAACAATGAATGTCGTCCCTATATATTTTTAAATTTAATTCACACATTCATTTAGTTTCTGAAATACCTTTACC... | pathogenic | 22,604 |
For chromosome 1, position 216198558, gene USH2A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Usher_syndrome_type_2A'] | CCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTTGTAACATTATCTGCTGGCTTCTCCCAGGAGATATTGAGAGAGTACGAAGAGAGGGGAAAGACTGAAGGAGGGATCATGAATACAGGTGCTATCAATGAGAACAATAACAATAACATCAAAACAATGAATGTCGTCCCTATATATTTTTAAATTTAATTCACACATTCATTTAGTTTCTGAAATACCTTTACCTTT... | CCTAAGCCAATTCTGAAAGGACATTAGTTAAAAATAACAATACCTGTGAAAACGCCATGGGAATAGACTGTTGAGGTGATTGTTCAGAAAGCATATTGATGTCATACCCCACAACTTTTCCTCTTGTAACATTATCTGCTGGCTTCTCCCAGGAGATATTGAGAGAGTACGAAGAGAGGGGAAAGACTGAAGGAGGGATCATGAATACAGGTGCTATCAATGAGAACAATAACAATAACATCAAAACAATGAATGTCGTCCCTATATATTTTTAAATTTAATTCACACATTCATTTAGTTTCTGAAATACCTTTACCTTT... | pathogenic | 22,605 |
A mutation at chromosome position 216199757 on chromosome 1 in gene USH2A: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TAATATAAAAAATAAAGTGGAGGATTAAAAATTTTTGCCTTAATGAAGATAATCCAGAAAATTTAGATATGTTGTCCTCCTTCCTTATCATCATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGC... | TAATATAAAAAATAAAGTGGAGGATTAAAAATTTTTGCCTTAATGAAGATAATCCAGAAAATTTAGATATGTTGTCCTCCTTCCTTATCATCATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGC... | pathogenic | 22,613 |
Considering the genetic mutation at chromosome 1, position 216199757, impacting USH2A: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39'] | TAATATAAAAAATAAAGTGGAGGATTAAAAATTTTTGCCTTAATGAAGATAATCCAGAAAATTTAGATATGTTGTCCTCCTTCCTTATCATCATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGC... | TAATATAAAAAATAAAGTGGAGGATTAAAAATTTTTGCCTTAATGAAGATAATCCAGAAAATTTAGATATGTTGTCCTCCTTCCTTATCATCATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGC... | pathogenic | 22,614 |
The chromosome 1, position 216199798 genetic variant in gene USH2A: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | AATGAAGATAATCCAGAAAATTTAGATATGTTGTCCTCCTTCCTTATCATCATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTA... | AATGAAGATAATCCAGAAAATTTAGATATGTTGTCCTCCTTCCTTATCATCATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTA... | pathogenic | 22,617 |
Evaluate the clinical significance of the mutation at chromosome 1, position 216199848 in gene USH2A: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCC... | CATGCCAACTGCTTACAAGCACACTTGTGAATTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCC... | pathogenic | 22,618 |
Gene USH2A variant at chromosome position 216199879 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTG... | TTATAGATTTTGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTG... | pathogenic | 22,619 |
Clinical classification of chromosome 1, position 216199889, gene USH2A: benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | TGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTAT... | TGATGTCCACGATTCTGTCATTATGTACAATCTAGTATCTAAACTATTTATTTTGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTAT... | pathogenic | 22,620 |
For chromosome 1, position 216199942, gene USH2A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATT... | TGGAAAGATAAATAAAAACAAAGACAAATTTGTGGAATTGGTGACAGTTATCTCTTTCATTGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATT... | pathogenic | 22,625 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 216200002, gene USH2A: what disease(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'Usher_syndrome_type_2A'] | TGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATTCTTGCTTTTCAAAATGTACTTTCACAGTACTTTGACTTTAATTTGAGGAAACATTTGCAT... | TGAACATAAATTAGGCTGTATATGGAGCAAGATGAGACATGTGTCCAATCCACTTCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATTCTTGCTTTTCAAAATGTACTTTCACAGTACTTTGACTTTAATTTGAGGAAACATTTGCAT... | pathogenic | 22,627 |
Mutation at chromosome 1, position 216200056, within USH2A: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATTCTTGCTTTTCAAAATGTACTTTCACAGTACTTTGACTTTAATTTGAGGAAACATTTGCATTCAGAGGTTTTAAAAGTAGAATTTAAAACATTGATCTTTACCTGATTCTCCCGT... | TCAGGAGTGGAAACCAAATGCTATTTTTGACAAACATTCCCAGAAGACTATAACTATAGTTAAGCCATTTTCGCCCCATGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATTCTTGCTTTTCAAAATGTACTTTCACAGTACTTTGACTTTAATTTGAGGAAACATTTGCATTCAGAGGTTTTAAAAGTAGAATTTAAAACATTGATCTTTACCTGATTCTCCCGT... | pathogenic | 22,630 |
A genetic variant at chromosome 1, position 216200134, affecting gene USH2A—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | TGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATTCTTGCTTTTCAAAATGTACTTTCACAGTACTTTGACTTTAATTTGAGGAAACATTTGCATTCAGAGGTTTTAAAAGTAGAATTTAAAACATTGATCTTTACCTGATTCTCCCGTTCTTTCTGAGACCCAGGCAGAAGACACACTTCCAGCCATATTCACAGCTAAGACTCTGAACTCATACTTGGTGTATGG... | TGAATTAATAACTAAAGCATTTACTTTTGCCCCCTAGAACTTGCTGCAAGTACTTTATGACCTTGAGTTGTTTATGTAACAAATCCATATATATGAAAATTTTCCTTGGTCTATGGAAGTTTCTAATTCTTGCTTTTCAAAATGTACTTTCACAGTACTTTGACTTTAATTTGAGGAAACATTTGCATTCAGAGGTTTTAAAAGTAGAATTTAAAACATTGATCTTTACCTGATTCTCCCGTTCTTTCTGAGACCCAGGCAGAAGACACACTTCCAGCCATATTCACAGCTAAGACTCTGAACTCATACTTGGTGTATGG... | benign | 22,637 |
Classify the chromosome 1 variant at position 216207291 affecting gene USH2A as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39'] | ATAACTCCTCTCTTTCTCTGTCACAAAAGTTTAAGTTTCAGGACACCTGGATCATGCTGATATTTGGAAGAAAATAAACATTCTAGTAGCAGGTTTTCAGGATACTTTGCCAACATGGCAGATGTAGACAGATGTTCATTTCCCTTTGCAATCTGCATCATGAAGTTCAGAGTTTCCATTAACTTTAAAGAAGACTTGGAATACTGAAGAGACATGTAGAGCCAAGAGAAAGGGGTGGACATAAGAAACTAAATTCCAGTTATATGAATTAGGTGCAAAATGAAACCCAGTATAATGCATACAAAATAAAACTCTATGCG... | ATAACTCCTCTCTTTCTCTGTCACAAAAGTTTAAGTTTCAGGACACCTGGATCATGCTGATATTTGGAAGAAAATAAACATTCTAGTAGCAGGTTTTCAGGATACTTTGCCAACATGGCAGATGTAGACAGATGTTCATTTCCCTTTGCAATCTGCATCATGAAGTTCAGAGTTTCCATTAACTTTAAAGAAGACTTGGAATACTGAAGAGACATGTAGAGCCAAGAGAAAGGGGTGGACATAAGAAACTAAATTCCAGTTATATGAATTAGGTGCAAAATGAAACCCAGTATAATGCATACAAAATAAAACTCTATGCG... | pathogenic | 22,639 |
Clinically, how would you classify the variant at chromosome 1, position 216207400, gene USH2A: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | CCAACATGGCAGATGTAGACAGATGTTCATTTCCCTTTGCAATCTGCATCATGAAGTTCAGAGTTTCCATTAACTTTAAAGAAGACTTGGAATACTGAAGAGACATGTAGAGCCAAGAGAAAGGGGTGGACATAAGAAACTAAATTCCAGTTATATGAATTAGGTGCAAAATGAAACCCAGTATAATGCATACAAAATAAAACTCTATGCGATGCAGGAGTTTTAAAGTCAATTAAAATGTTAAAACAAGGCATCCTCCTAACCATTTTAAGGAAGGTTATGGAATTTCAGTGTTTCGACAGAGCTTTAAACAGTTCTCC... | CCAACATGGCAGATGTAGACAGATGTTCATTTCCCTTTGCAATCTGCATCATGAAGTTCAGAGTTTCCATTAACTTTAAAGAAGACTTGGAATACTGAAGAGACATGTAGAGCCAAGAGAAAGGGGTGGACATAAGAAACTAAATTCCAGTTATATGAATTAGGTGCAAAATGAAACCCAGTATAATGCATACAAAATAAAACTCTATGCGATGCAGGAGTTTTAAAGTCAATTAAAATGTTAAAACAAGGCATCCTCCTAACCATTTTAAGGAAGGTTATGGAATTTCAGTGTTTCGACAGAGCTTTAAACAGTTCTCC... | pathogenic | 22,642 |
Does the chromosome 1 mutation at position 216217539 within gene USH2A classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCTCATCCCACCATTTACATTTTTCTGCTCCCCTCCTATTATCAGTGTCCATCACTCTAGCTATGTTTTGACCTCCTCTGAAGGCAGGAAAGTTGTCTCATTTGTTTCTAATAAATTGCCTCTGCTGATGCTGAGCTTCCAACTTTACACAGTGTTTCAAAAATTTTGTTAAATAAAAACCTAAAACAGAAGCAGCAACAACCACAAGAGTTGAAGAACTGTGCTCAGTATGATATATCATAATTTTAAAGAGATAAAAAACCAAAAGGAATATGTCCAGGGAAGAATCATTAGGAATGTGAGAGTTTTTAAAAATTCTA... | CCTCATCCCACCATTTACATTTTTCTGCTCCCCTCCTATTATCAGTGTCCATCACTCTAGCTATGTTTTGACCTCCTCTGAAGGCAGGAAAGTTGTCTCATTTGTTTCTAATAAATTGCCTCTGCTGATGCTGAGCTTCCAACTTTACACAGTGTTTCAAAAATTTTGTTAAATAAAAACCTAAAACAGAAGCAGCAACAACCACAAGAGTTGAAGAACTGTGCTCAGTATGATATATCATAATTTTAAAGAGATAAAAAACCAAAAGGAATATGTCCAGGGAAGAATCATTAGGAATGTGAGAGTTTTTAAAAATTCTA... | pathogenic | 22,646 |
Evaluate if the mutation on chromosome 1 at position 216232047 in USH2A is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCAGGTCACTGAGCAGGCGTTTTGCTGATAACCCTGGGAAGACTGACAAAGGGGATGAGTAGAACAAAAATGGGTAATTGAATGTCACAAAATGGCACTGATGGGAATGAGTGTTGCAAGGAGGACAGTGGGTTGGGGAAGATATTTTTCTCCTGGTAAATGTGGTCAGAACTATGAAAAAGACAGAGGTGGCCAGGAGTGAAACAAACCAGCCCAAGAGTTCCAACTGGGGAATCTGTAGAATATTATTTCAAAAAAATTACATCTAGGAGCTAGTATGTGCAGTAACTGGCTCCTATTTTACTATCAAAATCCTGACA... | CCAGGTCACTGAGCAGGCGTTTTGCTGATAACCCTGGGAAGACTGACAAAGGGGATGAGTAGAACAAAAATGGGTAATTGAATGTCACAAAATGGCACTGATGGGAATGAGTGTTGCAAGGAGGACAGTGGGTTGGGGAAGATATTTTTCTCCTGGTAAATGTGGTCAGAACTATGAAAAAGACAGAGGTGGCCAGGAGTGAAACAAACCAGCCCAAGAGTTCCAACTGGGGAATCTGTAGAATATTATTTCAAAAAAATTACATCTAGGAGCTAGTATGTGCAGTAACTGGCTCCTATTTTACTATCAAAATCCTGACA... | pathogenic | 22,647 |
Gene USH2A variant at chromosome 1, position 216246673—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | ATGCATGGTGTAGATTAAATTATCCATGGCTTTTTCTGCAATGATATGCAAAACAACCAGAAAAACAAAGGTTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATT... | ATGCATGGTGTAGATTAAATTATCCATGGCTTTTTCTGCAATGATATGCAAAACAACCAGAAAAACAAAGGTTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATT... | pathogenic | 22,656 |
A genetic alteration at chromosome 1, position 216246723, in gene USH2A—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_39'] | AAACAACCAGAAAAACAAAGGTTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTT... | AAACAACCAGAAAAACAAAGGTTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTT... | pathogenic | 22,659 |
Regarding the variant at chromosome 1 and position 216246744, affecting gene USH2A: benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | TTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGA... | TTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGA... | pathogenic | 22,660 |
Determine whether the variant at chromosome 1, position 216246744, in gene USH2A is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGA... | TTTTCTAACAATTTTAGTTCATCATTTAGATATCTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGA... | pathogenic | 22,661 |
Does the variant on chromosome 1 at location 216246777 affecting gene USH2A have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACA... | CTGGTAGGTGTACAAAGTATTGAGATGATGGATTGGGTCTTTCATTGGAAGGACCAAAGGGAACAAATGTTTGTAACTATGATTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACA... | pathogenic | 22,665 |
For chromosome 1, position 216246859, gene USH2A: benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Usher_syndrome_type_2A'] | TTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAA... | TTTCAGAGTTTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAA... | pathogenic | 22,668 |
Is the genetic change at chromosome 1, position 216246868, within gene USH2A benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39'] | TTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAA... | TTTTCCAAAATCAGAAAAATTGTTTAAAACATGTGACTTGTATTATACATACAATTAAAGTTAGACTGGAACAGTAAATTTTAACAATTGATAATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAA... | pathogenic | 22,669 |
Does the genetic variant at chromosome 1, position 216246961, impacting gene USH2A, appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAAT... | ATTACTCAAAAGGATATAACATTTGATCTATTAGCTTGTTTTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAAT... | pathogenic | 22,671 |
A mutation at chromosome position 216247001 on chromosome 1 in gene USH2A: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACAC... | TTGGTTTACTTAGAAAGAAGGATGTATAAATCATGGTTATTTGACTGTGTAGGAGACAAAGGACTTTGTTGCCAAAATTAGAGATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACAC... | pathogenic | 22,672 |
The mutation impacting USH2A on chromosome 1 at position 216247083: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39'] | GATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACT... | GATATTGATAAACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACT... | pathogenic | 22,674 |
Clinical significance of chromosome 1, position 216247094, gene USH2A (usherin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Cone-rod_dystrophy', 'Congenital_stationary_night_blindness', 'Inborn_genetic_diseases', 'Macular_dystrophy', 'Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'USH2A-related_disorder', 'Usher_syndrome', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A', 'lik... | ACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCT... | ACACTAAAAGAGAAAAAAACATCTCATCTTAGGATATCAAAAAGTTAATTGATTGCAAATTTGAAAGGATTAACCTGAAGGTAAAAAGAGTGAATGTGCTGTATCTGTCATTTAGGCTGTCTGCCCAGGTCTCCATAATCTTCCTGTCTTCTGGGATACTTACCACCTTGCTTCTACCTGATGAAATGGTCCCTAAAAGCTATACTCATTTTATAAGTACGTGACACCCCTGGCCACAATGAATTGGCTCAGAGGTAACCAACCAAACAAAACTGAGTCAATTCGAATTTTCCTCTAGAAATTATAACTAAGAGGTAGCT... | pathogenic | 22,676 |
Gene mutation in USH2A (usherin) at chromosome 1, position 216250949—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | AATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAA... | AATTCACATTCTTCTCCCTTTTTATTCTAGATGAATGACCTACTTTAATAAAATTATTGGTGCTAATGTATTTTACTGGTGATAGAATCATTAGTAAGATTTAACAGTTTTGTTAACTCTAACAGTTTGCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAA... | pathogenic | 22,694 |
Variant chromosome 1, position 216251077, gene USH2A (usherin): benign or pathogenic? Disease(s)? | pathogenic; ['Rare_genetic_deafness', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAATACTGAAGTAATTTAGTCTTCACAAAATATATATTTATGTTTCCTGCAGAAAACCATCTGGATCAATCAACAAAACAGGCAAATAGTAGGGATGGCATTATACATTCTAAATTAATTTTGATTTTTCC... | GCTTTCTGAAGCGTATACAACATACACTTGTATTTTCTGGGCTTCTTTTTTTTTCATATTAACAAGGTGAAATTGAATAAAGTTACTTGCTGATCCCATTAGGAAAGTAAATATATATGCATATCAAGTTTTTGTTTTTATAAAAAGTACTACATTTGCAGAAATAACACTAGAAATAATAATTATTTATAATACTGAAGTAATTTAGTCTTCACAAAATATATATTTATGTTTCCTGCAGAAAACCATCTGGATCAATCAACAAAACAGGCAAATAGTAGGGATGGCATTATACATTCTAAATTAATTTTGATTTTTCC... | pathogenic | 22,702 |
Regarding the variant found on chromosome 1 at position 216289316 in gene USH2A (usherin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TCAGAAAAACTAGGAATAGAGAAAAATTTCTCCAACTTAAAAAATAACACTATCTACAGCTAATATCCTGCTTATAAATGGTACAGTCTTTCATAATTCCATCCAATAATTAGCTCCACTTTATAAGATGTTAAGAAAGAAATCTAGAGCCAGTAGTATGCTGGAGTACACTGCACTGGCTCATAAGAGCAGATTAAGTACATTTCTTCTGAAATCCATGTTCAGTGACATCTCACTGGTAGATTGAAATTGATTATGGTGGCCTTTTTTTTTTCTTAGTCAGTTGTTAATTATTTACAAGCACAGAACCACCCAAGGTT... | TCAGAAAAACTAGGAATAGAGAAAAATTTCTCCAACTTAAAAAATAACACTATCTACAGCTAATATCCTGCTTATAAATGGTACAGTCTTTCATAATTCCATCCAATAATTAGCTCCACTTTATAAGATGTTAAGAAAGAAATCTAGAGCCAGTAGTATGCTGGAGTACACTGCACTGGCTCATAAGAGCAGATTAAGTACATTTCTTCTGAAATCCATGTTCAGTGACATCTCACTGGTAGATTGAAATTGATTATGGTGGCCTTTTTTTTTTCTTAGTCAGTTGTTAATTATTTACAAGCACAGAACCACCCAAGGTT... | pathogenic | 22,709 |
Variant on chromosome 1, at position 216292190, affecting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATTGAAATAAGCTGAAGTAGAACTCAAGACTATCAATTCCCCCTTTAAACATGATGTACTTTGCTCAAAAAATATTGAAATTTCTCCAATATTTGAAGACTACAGAAATAATCAATAATCAATAATATGAAAACTCATATTCTGATAGATATTGGCTATTGAGCTAGTTAAAAATTAAATTGATTTATAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCT... | ATTGAAATAAGCTGAAGTAGAACTCAAGACTATCAATTCCCCCTTTAAACATGATGTACTTTGCTCAAAAAATATTGAAATTTCTCCAATATTTGAAGACTACAGAAATAATCAATAATCAATAATATGAAAACTCATATTCTGATAGATATTGGCTATTGAGCTAGTTAAAAATTAAATTGATTTATAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCT... | pathogenic | 22,717 |
The genetic variant at chromosome 1, position 216292335, affecting gene USH2A (usherin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | TAGATATTGGCTATTGAGCTAGTTAAAAATTAAATTGATTTATAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCTAAGTGCTGTGTAATACAGTAGTAAACTAAATACACAATACCCATTGCATCTCTTTCACAAAGCTCTCTTACAGTCTAGGAGGTAAGAGGAATCTGAACTAAATAATACCAGGAGTAATACACATTTATAAACCATGATAAGCATA... | TAGATATTGGCTATTGAGCTAGTTAAAAATTAAATTGATTTATAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCTAAGTGCTGTGTAATACAGTAGTAAACTAAATACACAATACCCATTGCATCTCTTTCACAAAGCTCTCTTACAGTCTAGGAGGTAAGAGGAATCTGAACTAAATAATACCAGGAGTAATACACATTTATAAACCATGATAAGCATA... | pathogenic | 22,722 |
Chromosome 1, position 216292377, gene USH2A (usherin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCTAAGTGCTGTGTAATACAGTAGTAAACTAAATACACAATACCCATTGCATCTCTTTCACAAAGCTCTCTTACAGTCTAGGAGGTAAGAGGAATCTGAACTAAATAATACCAGGAGTAATACACATTTATAAACCATGATAAGCATAGTTGTCACTAACATGTGTAAGTGATTCTGATCTTCTCTAAAG... | TAATATTTCTAGACTATTTCCATTTACATATGCTGTTGACTCCCAAATCCATATCTCCAATCCAGAAATCTCTCTTTTATTTATGAATTAATGAATATTTATCGCGTGATTACTATGTACCAAATACTGTGCTAAGTGCTGTGTAATACAGTAGTAAACTAAATACACAATACCCATTGCATCTCTTTCACAAAGCTCTCTTACAGTCTAGGAGGTAAGAGGAATCTGAACTAAATAATACCAGGAGTAATACACATTTATAAACCATGATAAGCATAGTTGTCACTAACATGTGTAAGTGATTCTGATCTTCTCTAAAG... | benign | 22,726 |
Gene USH2A (usherin) variant at chromosome 1, position 216321968—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTGTTTAGACACGGC... | AAAACACAAGTGTAGGGCAAGGTCCAAGAGGCAGAGATGTTCACAAGTCATACATGAGTGTATGAGACAGTGCTACCATCTGAAAAGCTAAAATGCACTAACATATAAGCCCATATTTATGTAACAAAATGATAGAAATATAAGCATTTTATATAGTTTGTATGTTTGTCCCCTCCAAATCTCATGTTGAAATGTGATCCCCAGTGTTGGAGGTGAGCCTGGTGGGAGATGTTTGGGTTATGGAGGTGGATCCTTCATGAAGTGCCTTCCCTTCAGCAGTGAGACCTCACTCTGTTAGTTCATGGCTGTTTAGACACGGC... | pathogenic | 22,736 |
Is the genetic variant on chromosome 1, position 216323502, gene USH2A (usherin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TTGACATAAATACATAAACATTGTTCTTCATCTAACGATGCTTTTGTTTATTGATACTTTTGTATAAATACCCTTTAGTAAGAATCAAACTATTTTTTGTTTAGTGCCATGCTATCCAAACACATTAAAAATTGTTTTATAAAACATGATAATGCTGATGAAACAAAGAAAGAAAAACAAAAGAGAAAAGAACCTTAGGGTTTGGTTTCAGTTGTAATTTCTCTGGCTGAAATTATTTTTAAAAACTACAATTTCAACTTAATTGATGGCTGTTATTTTTCTTAAAAAATCTGCAATAATTGACATTTTAAGTTCATATC... | TTGACATAAATACATAAACATTGTTCTTCATCTAACGATGCTTTTGTTTATTGATACTTTTGTATAAATACCCTTTAGTAAGAATCAAACTATTTTTTGTTTAGTGCCATGCTATCCAAACACATTAAAAATTGTTTTATAAAACATGATAATGCTGATGAAACAAAGAAAGAAAAACAAAAGAGAAAAGAACCTTAGGGTTTGGTTTCAGTTGTAATTTCTCTGGCTGAAATTATTTTTAAAAACTACAATTTCAACTTAATTGATGGCTGTTATTTTTCTTAAAAAATCTGCAATAATTGACATTTTAAGTTCATATC... | pathogenic | 22,742 |
Does the chromosome 1 mutation at position 216324127 within gene USH2A (usherin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTTTTGTATATTTAATTGATACAAAATCAGTTTCTCCTTAATCGTGTGGATATCCATACACGTTTTTAATTTATCTGGAAATGTCAGAAGGACTGTCACCAATATCCAAACCCGTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGT... | TTTTTGTATATTTAATTGATACAAAATCAGTTTCTCCTTAATCGTGTGGATATCCATACACGTTTTTAATTTATCTGGAAATGTCAGAAGGACTGTCACCAATATCCAAACCCGTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGT... | benign | 22,751 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 216324168, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TCGTGTGGATATCCATACACGTTTTTAATTTATCTGGAAATGTCAGAAGGACTGTCACCAATATCCAAACCCGTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTAC... | TCGTGTGGATATCCATACACGTTTTTAATTTATCTGGAAATGTCAGAAGGACTGTCACCAATATCCAAACCCGTGTATTGTAAAGATAATTTTCAAGCCAACCTCTAAAGGGAAATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTAC... | pathogenic | 22,752 |
Is the genetic mutation found on chromosome 1 at position 216324281, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCCCAGAAGTCGAGGTTGCAACGA... | AATGGAATTTTTTATATCTATACCAACCACGTACCAAGGGAAGGCATTTACTACACTATTTAAAATACAGTTAAGAATATAAAGTTCAGGCTGAGCACGGTGGCTCACGCCTGTAATCTCAGCATGTTGGGAGACTCAGGCGGGTAGATCACTTGAGGTCAGGAGTTTGAGAGCAGCCTGAGCAACATGGCAAAACCCCATCTCTACAAAAAGTGAAAAAAAAAATCAGCTGGGCATGGTGGCACATGCCTGTAGTCCCAGTTACTTTGGAGGCTGAGATGAGAGGATCACTTGAGGCCCAGAAGTCGAGGTTGCAACGA... | pathogenic | 22,758 |
Is chromosome 1, position 216325335, gene USH2A (usherin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TATATATATATATATAACAATGTTATATAGAGAAAAGACTCACATACAGATCTTCCCCTAAAATCTTAGAGTATGAAATCATTTCAAAATGTAAAGCTTGAAATCTGGCTTGCTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGG... | TATATATATATATATAACAATGTTATATAGAGAAAAGACTCACATACAGATCTTCCCCTAAAATCTTAGAGTATGAAATCATTTCAAAATGTAAAGCTTGAAATCTGGCTTGCTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGG... | pathogenic | 22,766 |
Mutation found at chromosome 1 position 216325418, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TCAAAATGTAAAGCTTGAAATCTGGCTTGCTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGA... | TCAAAATGTAAAGCTTGAAATCTGGCTTGCTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGA... | pathogenic | 22,771 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 216325447, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Usher_syndrome_type_2A'] | CTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATG... | CTCTGACATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATG... | pathogenic | 22,772 |
Variant in gene USH2A (usherin), located at chromosome 1 position 216325453: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGA... | CATCTTAATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGA... | pathogenic | 22,775 |
Chromosome 1, position 216325460, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | ATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTA... | ATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTA... | pathogenic | 22,776 |
Gene mutation in USH2A (usherin) at chromosome 1, position 216325460—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | ATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTA... | ATGTGCTGTTAAGACAGTAAGTATGACAAAAACCTTGTTGAAAACAAAATTCATAATAATACCTCCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTA... | pathogenic | 22,777 |
Regarding the variant at chromosome 1 and position 216325524, affecting gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Rare_genetic_deafness', 'Retinal_degeneration', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | CCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGC... | CCCACTAATGGTGATTTCGTCCACTGCATAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGC... | pathogenic | 22,780 |
Benign or pathogenic: chromosome 1, position 216325552, gene USH2A (usherin) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome'] | TAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTAGGAAAAGCATA... | TAATATCTGTGTCTGAGGTTAACAGCAGTCTCAGTTGTATAGTACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTAGGAAAAGCATA... | pathogenic | 22,784 |
Gene USH2A (usherin) variant at chromosome position 216325594 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTAGGAAAAGCATATTCCATATATTTCATATATAAACAATACAGGATTATCATAGA... | TACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTAGGAAAAGCATATTCCATATATTTCATATATAAACAATACAGGATTATCATAGA... | pathogenic | 22,785 |
Variant at chromosome position 216325594, chromosome 1, gene USH2A (usherin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Usher_syndrome_type_2A'] | TACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTAGGAAAAGCATATTCCATATATTTCATATATAAACAATACAGGATTATCATAGA... | TACTGCCCATGAAAATGAAACCTTATTTGCGTGGCTTTTACGAACTCTTGAAGAGATGGGGTATTATAGAAGTTATTGTATCCAGGACGATAATTTGGTCCAGGTGTCAGGATGCTAAATGTGACATTGCCACGGGAATATGGAGTAAAACTGTTAATGAAAGAAATTCGATGTCATGAAAATCTATTCACATTTTTGGCAAAACAGAAATCAAAATGTTGAGAAATTACTACACAGTATCAATAAAAGCTTAAATTATTCATTCTAGGAAAAGCATATTCCATATATTTCATATATAAACAATACAGGATTATCATAGA... | pathogenic | 22,786 |
Benign or pathogenic: chromosome 1, position 216327668, gene USH2A (usherin) variant? Disease(s) if pathogenic? | benign | ACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAATATTTTACCGTGTCTATTTGTGATAATATAGAAATGATCACATTTACTT... | ACTGTAAGGACAAAGAGCTTAACAGTAATAGAACTTCTAGGAGTCGTTACAAATGAATGTCACTCGTTTAGTGCTTTCATGAGTATCCATTTAGTTTTAATAATTTGATGCATGAAACATAAAATAAAACTTATTTTTGGCCAAATAAACAAATTCATTATCATAAAATGTATATCAAAACCCACACATTTTAATATTAACTTTTTATTTATATCAAGAAGCATGCATAAGCCCTTGTCTGATTATTAAGATACTTATTTAAATACCACAATATTTTACCGTGTCTATTTGTGATAATATAGAAATGATCACATTTACTT... | benign | 22,797 |
Gene USH2A (usherin) variant at chromosome 1, position 216364960—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | CTGGGCGACAAGAGCGAAACTCCCTGTCAAAAAAAAATAATAATAAAATAATAATATTATTATTATTTACTGATATAGTTTAGTAATTTTTTTCAATATATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATT... | CTGGGCGACAAGAGCGAAACTCCCTGTCAAAAAAAAATAATAATAAAATAATAATATTATTATTATTTACTGATATAGTTTAGTAATTTTTTTCAATATATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATT... | pathogenic | 22,798 |
Determine whether the variant at chromosome 1, position 216365011, in gene USH2A (usherin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | TAATATTATTATTATTTACTGATATAGTTTAGTAATTTTTTTCAATATATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGA... | TAATATTATTATTATTTACTGATATAGTTTAGTAATTTTTTTCAATATATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGA... | pathogenic | 22,799 |
Evaluate the clinical significance of the mutation at chromosome 1, position 216365038 in gene USH2A (usherin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Usher_syndrome'] | TTTAGTAATTTTTTTCAATATATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGAAACACAGTAATGTTTTACATGACATTG... | TTTAGTAATTTTTTTCAATATATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGAAACACAGTAATGTTTTACATGACATTG... | pathogenic | 22,801 |
Clinical significance of chromosome 1, position 216365058, gene USH2A (usherin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Usher_syndrome_type_2A'] | TATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGAAACACAGTAATGTTTTACATGACATTGCTTCATTTGATCCTTACATT... | TATAGCATATATGTTATCTTCTTAAACTACATGGCCAATTTTTAGTGTGCGAAAATATAAACCACATAGTCCAGTTAATTATATGTTAATATTATTTCTCAGTTTTCATCTAATACTGTACAGTCCTACTTTAACAATGCTGTACATTAAAATCCAGCCCCATGCCCAAGAAAGAGAAAATATAGTTTATATACAGGCATTGTGCTTAGCACTTCATCCATTCATTCATTTAACAAATAAATATTGAATATCTAATACATGCCAGGTGCTTGAAACACAGTAATGTTTTACATGACATTGCTTCATTTGATCCTTACATT... | pathogenic | 22,803 |
Is chromosome 1, position 216418552, gene USH2A (usherin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Usher_syndrome_type_2A'] | TAGTCAAACAGTTATGAAATAAAGCAGTCTCATTAAATCATAAGTACTTTAACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGAT... | TAGTCAAACAGTTATGAAATAAAGCAGTCTCATTAAATCATAAGTACTTTAACCTTTTCTTGAAAGAAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGAT... | pathogenic | 22,808 |
Evaluate this variant at chromosome 1, position 216418618, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTTGGCATCTTCTGCAAAG... | AAGAGAAAGATTTAAAGATTCATGAAGAAATTTTGCCTAAACTAGTAAATGACTCATATTTGACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTTGGCATCTTCTGCAAAG... | pathogenic | 22,810 |
Variant on chromosome 1, at position 216418680, affecting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | ACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTTGGCATCTTCTGCAAAGATGGCACTGTCTTTAAAAGTTTCTATTTCTACGTTTTTAATATTAAAACCCAATTCTGTAGG... | ACATGTATTGAAATGATAATGCTGATTTCAGTAGGCACTCTAAGAGCATTTTATCCCCAAGGGAGTAATTCAGTCATGGTTACCGCTCTGCATTTAGATTTTAAACTTTCTTTGTGAAGCTTTTAATGTACTACTGCCTGCCAAAACATGGCACAGTTTCACAGATAACACAAAATAAAGGCAAGTAAAGATAATTTTTTTGTCATTGTTGATACAAAAATATGCAACAAACATATCTATTTGGCATCTTCTGCAAAGATGGCACTGTCTTTAAAAGTTTCTATTTCTACGTTTTTAATATTAAAACCCAATTCTGTAGG... | pathogenic | 22,815 |
Gene USH2A (usherin) variant at chromosome 1, position 216421949—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAAACACTAATAGTCCCTCATTTACTGTCACAATTTTACTATATTTTGTATGTATATTTGGTATAAAGTTATGAGTGCAAGTATATTTTTAATTTAGGCAAATAGATTTAGATGACATAAAGGTTTTATATAAGTAGAAATAAAAGTTTTATATAAATTCTACTGCAAATTATATTTTTAACCCTTCAGTAGTTGAATATTTCTAATTTACTGAAGTGAATTTGTTTTTATCCCTACCCATCAGGTCTTAACCTGAAAAGAGTTTGCCCCTATTCATTTTTCTTCTGTTTAAATCTACAAGTGAGAATTCGACCATTACT... | AAAACACTAATAGTCCCTCATTTACTGTCACAATTTTACTATATTTTGTATGTATATTTGGTATAAAGTTATGAGTGCAAGTATATTTTTAATTTAGGCAAATAGATTTAGATGACATAAAGGTTTTATATAAGTAGAAATAAAAGTTTTATATAAATTCTACTGCAAATTATATTTTTAACCCTTCAGTAGTTGAATATTTCTAATTTACTGAAGTGAATTTGTTTTTATCCCTACCCATCAGGTCTTAACCTGAAAAGAGTTTGCCCCTATTCATTTTTCTTCTGTTTAAATCTACAAGTGAGAATTCGACCATTACT... | pathogenic | 22,821 |
A genetic alteration at chromosome 1, position 216422097, in gene USH2A (usherin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_39', 'USH2A-related_disorder', 'Usher_syndrome', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TTATATAAATTCTACTGCAAATTATATTTTTAACCCTTCAGTAGTTGAATATTTCTAATTTACTGAAGTGAATTTGTTTTTATCCCTACCCATCAGGTCTTAACCTGAAAAGAGTTTGCCCCTATTCATTTTTCTTCTGTTTAAATCTACAAGTGAGAATTCGACCATTACTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGT... | TTATATAAATTCTACTGCAAATTATATTTTTAACCCTTCAGTAGTTGAATATTTCTAATTTACTGAAGTGAATTTGTTTTTATCCCTACCCATCAGGTCTTAACCTGAAAAGAGTTTGCCCCTATTCATTTTTCTTCTGTTTAAATCTACAAGTGAGAATTCGACCATTACTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGT... | pathogenic | 22,824 |
Is chromosome 1, position 216422237, gene USH2A (usherin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Inborn_genetic_diseases', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTAAATCTACAAGTGAGAATTCGACCATTACTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGTAGCAAAATATTTAGGAACTGGATTTATTCTGCTCCTGAATAAACAATAATTGGATAATCCATGTTTTGTTTGTTTTACTTATCTAGTGCAAACACCCCGAAATTCCCCCAATTCCCAAAGGTATTTTAATTTTGAAAATG... | TTAAATCTACAAGTGAGAATTCGACCATTACTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGTAGCAAAATATTTAGGAACTGGATTTATTCTGCTCCTGAATAAACAATAATTGGATAATCCATGTTTTGTTTGTTTTACTTATCTAGTGCAAACACCCCGAAATTCCCCCAATTCCCAAAGGTATTTTAATTTTGAAAATG... | pathogenic | 22,829 |
Is the chromosome 1, position 216422267 variant in USH2A (usherin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39'] | CTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGTAGCAAAATATTTAGGAACTGGATTTATTCTGCTCCTGAATAAACAATAATTGGATAATCCATGTTTTGTTTGTTTTACTTATCTAGTGCAAACACCCCGAAATTCCCCCAATTCCCAAAGGTATTTTAATTTTGAAAATGGAAACGACCTTGATACAAGGAACTCTCAAA... | CTCAAGAATGTATTTACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGTAGCAAAATATTTAGGAACTGGATTTATTCTGCTCCTGAATAAACAATAATTGGATAATCCATGTTTTGTTTGTTTTACTTATCTAGTGCAAACACCCCGAAATTCCCCCAATTCCCAAAGGTATTTTAATTTTGAAAATGGAAACGACCTTGATACAAGGAACTCTCAAA... | pathogenic | 22,831 |
Benign or pathogenic: chromosome 1, position 216422281, gene USH2A (usherin) variant? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39'] | TACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGTAGCAAAATATTTAGGAACTGGATTTATTCTGCTCCTGAATAAACAATAATTGGATAATCCATGTTTTGTTTGTTTTACTTATCTAGTGCAAACACCCCGAAATTCCCCCAATTCCCAAAGGTATTTTAATTTTGAAAATGGAAACGACCTTGATACAAGGAACTCTCAAAACCATTAACCATGT... | TACCAAATGCAGACTTATTTTCCCAAGCTTACTGAAAATGCATTTCTTAATATGTTATTGATTATCTTCCTTGCTATTTTGTTTGCTTGTAAACATACTAGCTTTGGTAGATAATAAATGTGAGAGGAAGGCAGGTAGCAAAATATTTAGGAACTGGATTTATTCTGCTCCTGAATAAACAATAATTGGATAATCCATGTTTTGTTTGTTTTACTTATCTAGTGCAAACACCCCGAAATTCCCCCAATTCCCAAAGGTATTTTAATTTTGAAAATGGAAACGACCTTGATACAAGGAACTCTCAAAACCATTAACCATGT... | pathogenic | 22,832 |
Variant chromosome 1, position 218346586, gene TGFB2 (transforming growth factor beta 2): benign or pathogenic? Disease(s)? | benign | TAGTTGAAATTGAAAATGTCAAGTTATGAGTAGTGTAGAACAGTAGACATCAAACACTTAAAATTCCAGCTTCCTGGATTAATGCTATGGAAAGAATGAAGTTGGTTGATAATGTTTAGCCTAGCAAGAAGGTGAAGAAGAAAGCCATACAAGAAGTGGCTTAGGCAGCAAATTATAAAGGTGACCATTCATTCAAATCAGTAAAACAAACAAGTATACCTTATTCTTTAGGTAAAATTGATGGATCTCTGTTTTCCAGCAGTTCACAAACAGAGGGGTACATTGTAAACAACAAACTAACAAAATAAATTCTGGGATGG... | TAGTTGAAATTGAAAATGTCAAGTTATGAGTAGTGTAGAACAGTAGACATCAAACACTTAAAATTCCAGCTTCCTGGATTAATGCTATGGAAAGAATGAAGTTGGTTGATAATGTTTAGCCTAGCAAGAAGGTGAAGAAGAAAGCCATACAAGAAGTGGCTTAGGCAGCAAATTATAAAGGTGACCATTCATTCAAATCAGTAAAACAAACAAGTATACCTTATTCTTTAGGTAAAATTGATGGATCTCTGTTTTCCAGCAGTTCACAAACAGAGGGGTACATTGTAAACAACAAACTAACAAAATAAATTCTGGGATGG... | benign | 22,841 |
Determine if the mutation at chromosome 1, position 218346649 in gene TGFB2 (transforming growth factor beta 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TTCCAGCTTCCTGGATTAATGCTATGGAAAGAATGAAGTTGGTTGATAATGTTTAGCCTAGCAAGAAGGTGAAGAAGAAAGCCATACAAGAAGTGGCTTAGGCAGCAAATTATAAAGGTGACCATTCATTCAAATCAGTAAAACAAACAAGTATACCTTATTCTTTAGGTAAAATTGATGGATCTCTGTTTTCCAGCAGTTCACAAACAGAGGGGTACATTGTAAACAACAAACTAACAAAATAAATTCTGGGATGGCAACCTGCTAAGGTATCCCAGAAAATAAGAGGTAGGACATGAATTTAAAAGATTGGAAGGTAT... | TTCCAGCTTCCTGGATTAATGCTATGGAAAGAATGAAGTTGGTTGATAATGTTTAGCCTAGCAAGAAGGTGAAGAAGAAAGCCATACAAGAAGTGGCTTAGGCAGCAAATTATAAAGGTGACCATTCATTCAAATCAGTAAAACAAACAAGTATACCTTATTCTTTAGGTAAAATTGATGGATCTCTGTTTTCCAGCAGTTCACAAACAGAGGGGTACATTGTAAACAACAAACTAACAAAATAAATTCTGGGATGGCAACCTGCTAAGGTATCCCAGAAAATAAGAGGTAGGACATGAATTTAAAAGATTGGAAGGTAT... | benign | 22,842 |
Is the variant located on chromosome 1 at position 218346889, gene TGFB2 (transforming growth factor beta 2), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_thoracic_aortic_aneurysm_and_aortic_dissection', 'Loeys-Dietz_syndrome_4'] | AATAAATTCTGGGATGGCAACCTGCTAAGGTATCCCAGAAAATAAGAGGTAGGACATGAATTTAAAAGATTGGAAGGTATGTCTTCAGTACTGGCCTGGCCCTGAGTAGACTAGTGCTCCCTCCCATAGGGGTGCGTGTGCACACATAATACAGGAGGGAAGCCTTCCCTTCTAGAGCAAGTGATTCAGCTTGGGAGGCTGTGACTGAGCTACACTAAGTAAAAACGGGAGACTTGATTGTCCTTCCTTCAACAGACCTGTCCAAAATGACTGGAAAGTAAATACCGTAAATCACTGTTGTCAGGGCGCACATTCCACCT... | AATAAATTCTGGGATGGCAACCTGCTAAGGTATCCCAGAAAATAAGAGGTAGGACATGAATTTAAAAGATTGGAAGGTATGTCTTCAGTACTGGCCTGGCCCTGAGTAGACTAGTGCTCCCTCCCATAGGGGTGCGTGTGCACACATAATACAGGAGGGAAGCCTTCCCTTCTAGAGCAAGTGATTCAGCTTGGGAGGCTGTGACTGAGCTACACTAAGTAAAAACGGGAGACTTGATTGTCCTTCCTTCAACAGACCTGTCCAAAATGACTGGAAAGTAAATACCGTAAATCACTGTTGTCAGGGCGCACATTCCACCT... | pathogenic | 22,852 |
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