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 genetic variant on chromosome 1, position 215674210, gene USH2A (usherin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTAT... | GCTGTAAATGAGCACTTTTTTCTCTATTCCCAACCACCATTGATTTTATGACACCTTCAATTTTCCCGCAGGCACCCAGCTATCTTCTTTCTACCTTTATTCCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTAT... | pathogenic | 21,900 |
Regarding the variant at chromosome 1 and position 215674311, affecting gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Usher_syndrome_type_2A'] | CCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTT... | CCTTTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTT... | pathogenic | 21,902 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215674314, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | TTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATC... | TTTAGTTCTAGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATC... | pathogenic | 21,903 |
Does the variant impacting USH2A (usherin) on chromosome 1, position 215674323, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_39'] | AGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGT... | AGCCTTTTCCTCTTCTATTTTCTACCTCCCCTCTTTGCTCTTTGAATCACTGCTTTCTGTTCTTGTACATGTTCTGTCTCTTCCACCTTTTTGCTTTCTTAATTACACCTTTTTCCCTTTGTGACTTATTTTATTCCCACTTTCTTCTCCTCCTCCCCTGGTTCTCCTCTCATGCCGATCTCCACCATGACAGGGCTACCAGTTTATTGGTGATCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGT... | pathogenic | 21,904 |
Mutation found at chromosome 1 position 215674536, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTC... | TCAAATCCATAGCTGTGTATGGTAGATCTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTC... | pathogenic | 21,917 |
Classify the chromosome 1 variant at position 215674563 affecting gene USH2A (usherin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTC... | CTGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTC... | pathogenic | 21,918 |
Evaluate the clinical significance of the mutation at chromosome 1, position 215674564 in gene USH2A (usherin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCT... | TGACTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCT... | pathogenic | 21,919 |
Mutation at chromosome 1, position 215674567, within USH2A (usherin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | CTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTC... | CTTCTAAGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTC... | pathogenic | 21,920 |
Evaluate if the mutation on chromosome 1 at position 215674573 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Usher_syndrome_type_2A'] | AGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTC... | AGCAATTCTGTGAAGTCAATTTTGATTTCCCACATAAAGATTATTCATTTTCTGGGTTATCCGTGGTAGTTTTTAAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTC... | pathogenic | 21,922 |
Does the genetic variant at chromosome 1, position 215674647, impacting gene USH2A (usherin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCT... | AAATTTTGGGCTGGATTCCTTCTGCTACTTAGGACTTTCCCAGACTATTTCTTCTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCT... | pathogenic | 21,928 |
The mutation impacting USH2A (usherin) on chromosome 1 at position 215674700: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGA... | CTTACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGA... | pathogenic | 21,930 |
Variant at chromosome position 215674702, chromosome 1, gene USH2A (usherin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGC... | TACTGACCAGCTGGGGGTGCTGAAAGGAGGACACACACATTTGCAATATTCAGTGAACATTAATCCACTAAAAACAAAAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGC... | pathogenic | 21,931 |
Gene USH2A (usherin) variant at chromosome position 215674779 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_39'] | AAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGC... | AAACAAAAAACCACGCATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGC... | pathogenic | 21,935 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215674795, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'USH2A-related_disorder', 'Usher_syndrome_type_2A'] | ATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTT... | ATGAACTCCAACTTCATATAGAAGTGATACTCTGTTTTATGTCAATGCCACTTACAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTT... | pathogenic | 21,938 |
Located at chromosome 1 position 215674849, the variant affecting gene USH2A (usherin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_39'] | CAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGA... | CAGATTCAGTTAGAGTGGATAATGAAGAGATTTCTCTCACATTCTTAAATATCCTTGCAATTTATCAGATAAATTAAACTTTTCTTTCCAGCCTGGAAAAAGCATTCCTTTCATGCCTGGACAAACTCTTTCACCTCTAGAATACTTTTTGAATAAGAGTTTCAAAAGGGAGCAAATTGATATGGTTTTTGAAAGTTGGAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGA... | pathogenic | 21,940 |
Is the genetic change at chromosome 1, position 215675047, within gene USH2A (usherin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGA... | GAGGTACAGTCAGGTAAAGAGGAAGCCAGTCTAGAATATACAGCTCTGCAGCTACAGTGGACCTTTTTAATGCCCTGAATCAGTGTAAGGTAATATAAAAGCCAACTCACATAGCATGTGGATTAGCTGCAGAGGATACCTGAGGAAGTTTTAATTACTGTTTAATATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGA... | pathogenic | 21,949 |
Variant on chromosome 1, at position 215675212, affecting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTT... | TATTTAATAGACCCTAAATAATTGTCATGAGTAGATGCATAAAACCACGAATGTTTCATTTCAACAGCACTATATATCAGAGGTAATTATAGGAGGATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTT... | pathogenic | 21,958 |
Regarding the variant found on chromosome 1 at position 215675308 in gene USH2A (usherin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAAC... | ATCTAATCTACACATCACTAGATTACAATAATAGCTGAATTTTACCTGAGGTAGTTGGAAATCAACACTCTTTCAGCCTTTAATTTTTTTAAGTGATTCTGTTCATTTTACTAAATTTTAAGCATAAAATGTCTCTTATTACCCTTCTCTCTGGGGATGTAAGTTACTTAAAATGTGATGGGGAAAACTGCCAAACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAAC... | pathogenic | 21,965 |
Is the genetic change at chromosome 1, position 215675501, within gene USH2A (usherin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | AACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCT... | AACAATTATTTAAACAATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCT... | pathogenic | 21,976 |
Mutation found at chromosome 1 position 215675516, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | AATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAG... | AATGGGCAAGATTCTTTTGTGTGGAGAACAACGCACTTCCATGCATGTCACAGAGCCCAGATGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAG... | pathogenic | 21,978 |
The mutation impacting USH2A (usherin) on chromosome 1 at position 215675577: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAGGGGCCTGCGTATTTCCAGGGGGACTAGCCTCATCTCTGTCCTACTTATTTCAGATACCAGG... | TGGGACCGCTAGGAAAACATGAGCTAGCAAAGTGGCACTGTCCTGAGAAACCATAAGAAAGTAGAGTCAGAGAAGCCTTATTATTCCTGGAAGAAGTGCTGGATTTGATAAGAAGGCTCTTCACGAAACAAATTTTGTTTTAGTCTAACTCTGGCTGGTAATTGCGCTCATTGATTGGCACTTTTTAACCTTAAAATAATACATCATTTTCTTCACAGTCTGGCCAGATGACCCTATCGGGGCTGTCAGAACTGTCCAGGGGCCTGCGTATTTCCAGGGGGACTAGCCTCATCTCTGTCCTACTTATTTCAGATACCAGG... | pathogenic | 21,979 |
Evaluate if the mutation on chromosome 1 at position 215680168 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TCAATTCTACCTTGAAATCTTTAATAGTTCTCAAACTCCATTGGTCCTTATATAGTCCATTTTCCACAGGGTAGCCAGAGTGATTTTTAAAAACGTAAATTTGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTT... | TCAATTCTACCTTGAAATCTTTAATAGTTCTCAAACTCCATTGGTCCTTATATAGTCCATTTTCCACAGGGTAGCCAGAGTGATTTTTAAAAACGTAAATTTGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTT... | pathogenic | 21,988 |
The mutation impacting USH2A (usherin) on chromosome 1 at position 215680207: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATTGGTCCTTATATAGTCCATTTTCCACAGGGTAGCCAGAGTGATTTTTAAAAACGTAAATTTGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCA... | ATTGGTCCTTATATAGTCCATTTTCCACAGGGTAGCCAGAGTGATTTTTAAAAACGTAAATTTGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCA... | pathogenic | 21,989 |
Variant at chromosome 1, position 215680269, gene USH2A (usherin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinitis_pigmentosa_39'] | TGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTC... | TGATCATGCTATTCCTTTGCTTAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTC... | pathogenic | 21,991 |
Is the chromosome 1, position 215680290 variant in USH2A (usherin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'USH2A-related_disorder', 'Usher_syndrome_type_2A'] | TAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAA... | TAAAGCCTTCAGTAATTTTTCATTGCACTTGGAACAAATTCTAAACTTTACCACAGCCTACAATGTTGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAA... | pathogenic | 21,992 |
For chromosome 1, position 215680356, gene USH2A (usherin): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa_39'] | TGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCTCTCAGTA... | TGGGACAATCTGTCTCCTACCAGTCCCTCCAACCTCTTCTAGTGCCATCTTTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCTCTCAGTA... | pathogenic | 21,997 |
Variant at chromosome position 215680406, chromosome 1, gene USH2A (usherin): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | TTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCTCTCAGTAATTCCCTTGCTTATTTATTTACTAGCTTATTGTTTGCTTTTCTGTACCCC... | TTCTTTCTCCCAAATACTTCATACACACTAGCTTTCTTCTCTTTCCTTGAATACACCAAGTTCATTCCTGGCTTCAGGCCTTGCATTTGCTGTTCATTTTGTCTGGAACATTTTGCCCCCATATCCTCACATGACTAACTCTGTCTTGTCATTCAGGACTCAGCTCAAATGTCAACTTGATTCAAATGATATTCCATTCTAAAATAGCCTGAGCAGGCATAATTACATTATTCTATTTAATTTTCTTTATAGCATTCATCGCTCTCAGTAATTCCCTTGCTTATTTATTTACTAGCTTATTGTTTGCTTTTCTGTACCCC... | benign | 22,000 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 215728219, gene USH2A (usherin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AGGGTGAAAGTTTAGAACATGAGTTTGAAGGATATGGTGGGAAGTAACGAACTTCCTCCTGGATCACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATT... | AGGGTGAAAGTTTAGAACATGAGTTTGAAGGATATGGTGGGAAGTAACGAACTTCCTCCTGGATCACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATT... | pathogenic | 22,005 |
Considering the variant on chromosome 1, location 215728261, involving gene USH2A (usherin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Retinitis_pigmentosa_39'] | AGTAACGAACTTCCTCCTGGATCACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCA... | AGTAACGAACTTCCTCCTGGATCACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCA... | pathogenic | 22,009 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215728273, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39'] | CCTCCTGGATCACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAA... | CCTCCTGGATCACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAA... | pathogenic | 22,011 |
Does the genetic variant at chromosome 1, position 215728283, impacting gene USH2A (usherin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinal_dystrophy'] | CACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATA... | CACATATCCACTAAAAAGTATCTTTTACACTTAAGAACACTGCTTCTAATGCTTATCATATAGGAACTAGAAGACATAATATAAAAGACTCTAGTACATAATTTACTATCTAATAAAAATATAGTACTAATTCTGAAACAGATAAAAATGAAGATAAAACAATTATCCTTTCATTTACATATTGCTTATTTTTTAGTCATATGAGAAAATTAAACATGAGGACAGTGGGAAAACATTGTACTTTAAACTATTAATTTAAAAGGGCTCTTCTGGAGTTTAATGAAAATATATTTGCTCACTGTAATTTAAATATTTTGATA... | pathogenic | 22,012 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 1, position 215741521, gene USH2A (usherin). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39'] | TATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGC... | TATAACAGATACTCTATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGC... | pathogenic | 22,023 |
Evaluate the clinical significance of the mutation at chromosome 1, position 215741536 in gene USH2A (usherin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGCTCATCACTGAAGACT... | ATTTCCCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGCTCATCACTGAAGACT... | pathogenic | 22,025 |
A genetic variant at chromosome 1, position 215741541, affecting gene USH2A (usherin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | CCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGCTCATCACTGAAGACTGATGT... | CCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGCTCATCACTGAAGACTGATGT... | benign | 22,027 |
Evaluate this variant at chromosome 1, position 215741541, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGCTCATCACTGAAGACTGATGT... | CCTTTATTCTGAATAGGAATTTGATGTGCTTTTCTCATGCAATTAGCATTAAGTGGATGAAAGAAAACTATTTCAAGAGGGTGGACATTTTAGAGCCTGCACTAATGTGCTTAGCGTAAAATGGAAATTCACATTAACCATTTTTACGTGTTCATGTGTTTTTGAATCAGAAATATTATTCTTCAAATTAATGTTTGCTGAGAAGAAATTTGGCTTGTTCATTTTTGGTAATGTCATTTACATAACCAGAAATGCAATAATACTTTCTCCTTTCGTAATTTTTTTCTATAAGCCCTTAGCTCATCACTGAAGACTGATGT... | benign | 22,028 |
Clinical significance of chromosome 1, position 215743251, gene USH2A (usherin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | TCACTGGTAGGTGCTACAAACAAACAAACAAACATACAAAACAAAACAAAAAAAAACACAACATGAATTCCCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGC... | TCACTGGTAGGTGCTACAAACAAACAAACAAACATACAAAACAAAACAAAAAAAAACACAACATGAATTCCCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGC... | pathogenic | 22,034 |
Determine if the mutation at chromosome 1, position 215743290 in gene USH2A (usherin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AACAAAACAAAAAAAAACACAACATGAATTCCCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTC... | AACAAAACAAAAAAAAACACAACATGAATTCCCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTC... | pathogenic | 22,037 |
Gene mutation in USH2A (usherin) at chromosome 1, position 215743313—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATGAATTCCCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTCTTTATTATTTTTCAAGCAAGGAA... | ATGAATTCCCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTCTTTATTATTTTTCAAGCAAGGAA... | pathogenic | 22,038 |
Evaluate if the mutation on chromosome 1 at position 215743321 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTCTTTATTATTTTTCAAGCAAGGAAAAGAACTA... | CCATTCATTCTCTTATGGAAATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTCTTTATTATTTTTCAAGCAAGGAAAAGAACTA... | pathogenic | 22,040 |
Evaluate the clinical significance of the mutation at chromosome 1, position 215743341 in gene USH2A (usherin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTCTTTATTATTTTTCAAGCAAGGAAAAGAACTACATATTCATACAGAAGGGTA... | ATATAAAATGCTCTTGATTCTGCTGTGTTGGAGCAGTACGCATTCTTAAATAACTAAAAATAATAGTAACAGCCAATCTTACCTGTAAATAAAGTAGTTGATGATGATTCCATTTGGTTTTTCAGGTGGCATCCACTTAATCTCTATGCAAGCTGACCCCAGTGCCTTAAGAACAGGAGAATTAAGATCCATTGGGGCTGCTTCAGGTGTTTTGACAAACATCCTACTGCTAACTCCACAACTTCCTTGAAAAAAAAAAAATTGAGGTCTTTATTATTTTTCAAGCAAGGAAAAGAACTACATATTCATACAGAAGGGTA... | benign | 22,041 |
Gene USH2A (usherin) variant at chromosome 1, position 215758580—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CAATAGGCTAAATATGGTATTAGATTGGCTCTATCCAGCTTCATTTTATTTTGTGGTGCAAAAACACAACAGCACAATAAAAATGCCAAGGAGAAATATACTAAAAAATCGTGGCCAGGTGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAAGTCAGGAGTTCGAGACGAGCCTGGCCAGCATGGTGAAGCCCCATTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTTTGGAGGCTGAGGCTTGAACCTGGGAGGCGGAGGTT... | CAATAGGCTAAATATGGTATTAGATTGGCTCTATCCAGCTTCATTTTATTTTGTGGTGCAAAAACACAACAGCACAATAAAAATGCCAAGGAGAAATATACTAAAAAATCGTGGCCAGGTGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAAGTCAGGAGTTCGAGACGAGCCTGGCCAGCATGGTGAAGCCCCATTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTTTGGAGGCTGAGGCTTGAACCTGGGAGGCGGAGGTT... | benign | 22,052 |
Is the genetic variant on chromosome 1, position 215758593, gene USH2A (usherin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ATGGTATTAGATTGGCTCTATCCAGCTTCATTTTATTTTGTGGTGCAAAAACACAACAGCACAATAAAAATGCCAAGGAGAAATATACTAAAAAATCGTGGCCAGGTGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAAGTCAGGAGTTCGAGACGAGCCTGGCCAGCATGGTGAAGCCCCATTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTTTGGAGGCTGAGGCTTGAACCTGGGAGGCGGAGGTTGCTGTGAGCTGAG... | ATGGTATTAGATTGGCTCTATCCAGCTTCATTTTATTTTGTGGTGCAAAAACACAACAGCACAATAAAAATGCCAAGGAGAAATATACTAAAAAATCGTGGCCAGGTGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAAGTCAGGAGTTCGAGACGAGCCTGGCCAGCATGGTGAAGCCCCATTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTTTGGAGGCTGAGGCTTGAACCTGGGAGGCGGAGGTTGCTGTGAGCTGAG... | pathogenic | 22,055 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215758647, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | AACAGCACAATAAAAATGCCAAGGAGAAATATACTAAAAAATCGTGGCCAGGTGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAAGTCAGGAGTTCGAGACGAGCCTGGCCAGCATGGTGAAGCCCCATTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTTTGGAGGCTGAGGCTTGAACCTGGGAGGCGGAGGTTGCTGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGAGAGAGACCCGGTCTCAAAA... | AACAGCACAATAAAAATGCCAAGGAGAAATATACTAAAAAATCGTGGCCAGGTGCAGTGGCTCATGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAAGTCAGGAGTTCGAGACGAGCCTGGCCAGCATGGTGAAGCCCCATTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGTGTGCCTGTAGTCCCAGCTACTTTGGAGGCTGAGGCTTGAACCTGGGAGGCGGAGGTTGCTGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGAGAGAGACCCGGTCTCAAAA... | pathogenic | 22,059 |
Variant in USH2A (usherin), chromosome 1, position 215759701—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTTTCTCACTCTACTCTTTACTCCACAGTATTAATGCAGTCAGGATTTTACCTGAGGATGGTGCTTACCTCAAAATATAATGTTGCACTAAGTCACAAGGCAACCCAATAATGACTAAATGGCTCAATGAAGGCTATTCAGCTTACAGAGGAAAAATGCAGCTACCATAAGTGGTCACAACCCAAGGTACATGGGTGAAGTGAACAACTGTCTTTCCAAACTCCCCATTCACTGATTTAATATAAAAGGAATGGTATAATGTCAATGATCCAATCTAAGGAGTCCCATGGAAATGAATGTTCAAGGTAATTCTGACCTAT... | CTTTCTCACTCTACTCTTTACTCCACAGTATTAATGCAGTCAGGATTTTACCTGAGGATGGTGCTTACCTCAAAATATAATGTTGCACTAAGTCACAAGGCAACCCAATAATGACTAAATGGCTCAATGAAGGCTATTCAGCTTACAGAGGAAAAATGCAGCTACCATAAGTGGTCACAACCCAAGGTACATGGGTGAAGTGAACAACTGTCTTTCCAAACTCCCCATTCACTGATTTAATATAAAAGGAATGGTATAATGTCAATGATCCAATCTAAGGAGTCCCATGGAAATGAATGTTCAAGGTAATTCTGACCTAT... | pathogenic | 22,069 |
The mutation impacting USH2A (usherin) on chromosome 1 at position 215759786: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CACTAAGTCACAAGGCAACCCAATAATGACTAAATGGCTCAATGAAGGCTATTCAGCTTACAGAGGAAAAATGCAGCTACCATAAGTGGTCACAACCCAAGGTACATGGGTGAAGTGAACAACTGTCTTTCCAAACTCCCCATTCACTGATTTAATATAAAAGGAATGGTATAATGTCAATGATCCAATCTAAGGAGTCCCATGGAAATGAATGTTCAAGGTAATTCTGACCTATATGACTTGCATTGGATATATAGAAGAGTAAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG... | CACTAAGTCACAAGGCAACCCAATAATGACTAAATGGCTCAATGAAGGCTATTCAGCTTACAGAGGAAAAATGCAGCTACCATAAGTGGTCACAACCCAAGGTACATGGGTGAAGTGAACAACTGTCTTTCCAAACTCCCCATTCACTGATTTAATATAAAAGGAATGGTATAATGTCAATGATCCAATCTAAGGAGTCCCATGGAAATGAATGTTCAAGGTAATTCTGACCTATATGACTTGCATTGGATATATAGAAGAGTAAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGG... | pathogenic | 22,073 |
Chromosome 1, position 215766752, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_39'] | ATGGCATTTTATAATTAGTTATGTCTGGGTGGATAATCTAAAGTGGTATACTTGTTTTCACTTTACAGTAAAACAACAGAACTTAATGTGATTGCTAAGGTGTTCCCAAGTTAAGCATTCACACTATATTTATTTCATATATGGGTTATATATAAATGGCACTTATTCAGCCAGAAAATGGCCCTAAATCCATGTTTCTTCTGCAGAGGAAAGTCCATTTCATCTATTATTTCTTTGCATGATTATTTGTGTTAGAGGAAAGATACATAAAGTTAAAAAAAAAAAAGAAATCAAGGGCATTTCTCATATCACATTACCCT... | ATGGCATTTTATAATTAGTTATGTCTGGGTGGATAATCTAAAGTGGTATACTTGTTTTCACTTTACAGTAAAACAACAGAACTTAATGTGATTGCTAAGGTGTTCCCAAGTTAAGCATTCACACTATATTTATTTCATATATGGGTTATATATAAATGGCACTTATTCAGCCAGAAAATGGCCCTAAATCCATGTTTCTTCTGCAGAGGAAAGTCCATTTCATCTATTATTTCTTTGCATGATTATTTGTGTTAGAGGAAAGATACATAAAGTTAAAAAAAAAAAAGAAATCAAGGGCATTTCTCATATCACATTACCCT... | pathogenic | 22,082 |
The genetic variant at chromosome 1, position 215782082, affecting gene USH2A (usherin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GCAACTACCTGAAGACGTAGGAATTAAGCAGCAATTTATTGTAATAGTGCACTAGCTATCCTGATCAATGAGAATGTCACTTTTGTTTTAAAATGTTGTCTGGCCTGGCATATCATTAGCAGGGGCTTGGAGAAGCATTTCCCTTTTTTTTCATTTTTTTCCCTCCCAACCTATTTAAACAATGAAATCTGACCTTGAATATATTACATAAGTCTCACACTACCATTTATCACAACAGGTTCAACAACAATTTTGACGGCAGAGTGCAGCCCTCAGTGTTTAAACAAGTAAAATCTGGCTGGCAGACTGTCTTACTAGAG... | GCAACTACCTGAAGACGTAGGAATTAAGCAGCAATTTATTGTAATAGTGCACTAGCTATCCTGATCAATGAGAATGTCACTTTTGTTTTAAAATGTTGTCTGGCCTGGCATATCATTAGCAGGGGCTTGGAGAAGCATTTCCCTTTTTTTTCATTTTTTTCCCTCCCAACCTATTTAAACAATGAAATCTGACCTTGAATATATTACATAAGTCTCACACTACCATTTATCACAACAGGTTCAACAACAATTTTGACGGCAGAGTGCAGCCCTCAGTGTTTAAACAAGTAAAATCTGGCTGGCAGACTGTCTTACTAGAG... | pathogenic | 22,102 |
Regarding the variant at chromosome 1 and position 215786738, affecting gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa_39'] | GGAATTATCATAGCACCACTTGTGTGCTGAACATCTTTCATGAAAAAGAACAGTTTGTTATTTTTCATATTCAATTTGTAGTATTTTCTGCAGGCAAAGCAATCTGAAATATGGATTTTAAAAGCCCTCATAACATTATATCAGTAGGTGGAAACATCTATTCACTTCTGGAGAGGGCTATTACAAGTATTTATTAAAAGCCCTTCAAAATCTTGATCTTGATTACAAGGGGCAGATAAAAGTAGAGAACTCTCTTAGATGGAAACTCAATAATTTAAAAATGAAAGTCCATGACTTAAATCTATAACTGGGACTGGGAA... | GGAATTATCATAGCACCACTTGTGTGCTGAACATCTTTCATGAAAAAGAACAGTTTGTTATTTTTCATATTCAATTTGTAGTATTTTCTGCAGGCAAAGCAATCTGAAATATGGATTTTAAAAGCCCTCATAACATTATATCAGTAGGTGGAAACATCTATTCACTTCTGGAGAGGGCTATTACAAGTATTTATTAAAAGCCCTTCAAAATCTTGATCTTGATTACAAGGGGCAGATAAAAGTAGAGAACTCTCTTAGATGGAAACTCAATAATTTAAAAATGAAAGTCCATGACTTAAATCTATAACTGGGACTGGGAA... | pathogenic | 22,131 |
Does the variant impacting USH2A (usherin) on chromosome 1, position 215786739, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GAATTATCATAGCACCACTTGTGTGCTGAACATCTTTCATGAAAAAGAACAGTTTGTTATTTTTCATATTCAATTTGTAGTATTTTCTGCAGGCAAAGCAATCTGAAATATGGATTTTAAAAGCCCTCATAACATTATATCAGTAGGTGGAAACATCTATTCACTTCTGGAGAGGGCTATTACAAGTATTTATTAAAAGCCCTTCAAAATCTTGATCTTGATTACAAGGGGCAGATAAAAGTAGAGAACTCTCTTAGATGGAAACTCAATAATTTAAAAATGAAAGTCCATGACTTAAATCTATAACTGGGACTGGGAAC... | GAATTATCATAGCACCACTTGTGTGCTGAACATCTTTCATGAAAAAGAACAGTTTGTTATTTTTCATATTCAATTTGTAGTATTTTCTGCAGGCAAAGCAATCTGAAATATGGATTTTAAAAGCCCTCATAACATTATATCAGTAGGTGGAAACATCTATTCACTTCTGGAGAGGGCTATTACAAGTATTTATTAAAAGCCCTTCAAAATCTTGATCTTGATTACAAGGGGCAGATAAAAGTAGAGAACTCTCTTAGATGGAAACTCAATAATTTAAAAATGAAAGTCCATGACTTAAATCTATAACTGGGACTGGGAAC... | pathogenic | 22,132 |
Evaluate this variant at chromosome 1, position 215786865, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TCATAACATTATATCAGTAGGTGGAAACATCTATTCACTTCTGGAGAGGGCTATTACAAGTATTTATTAAAAGCCCTTCAAAATCTTGATCTTGATTACAAGGGGCAGATAAAAGTAGAGAACTCTCTTAGATGGAAACTCAATAATTTAAAAATGAAAGTCCATGACTTAAATCTATAACTGGGACTGGGAACACAATAGAAGGTTGGACAAATTGTCCTCTATCTGAGGCCTTTCCTAATTAAATTCATTCCAAGAAATATTTTTTGTTTGTATAGTGTTCTAAATCCAAATAACGAGGCAAAGGTAAACAAAAATGC... | TCATAACATTATATCAGTAGGTGGAAACATCTATTCACTTCTGGAGAGGGCTATTACAAGTATTTATTAAAAGCCCTTCAAAATCTTGATCTTGATTACAAGGGGCAGATAAAAGTAGAGAACTCTCTTAGATGGAAACTCAATAATTTAAAAATGAAAGTCCATGACTTAAATCTATAACTGGGACTGGGAACACAATAGAAGGTTGGACAAATTGTCCTCTATCTGAGGCCTTTCCTAATTAAATTCATTCCAAGAAATATTTTTTGTTTGTATAGTGTTCTAAATCCAAATAACGAGGCAAAGGTAAACAAAAATGC... | pathogenic | 22,138 |
Is the chromosome 1, position 215798949 variant in USH2A (usherin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2'] | ACCATTCCTTCTTGAACATATCTTTTCCCCTGGACAGTATCTCTTTATTATATCTTATAAGGTATGTGAGAATGATGACAAATCTTGTGGGTCTTATGGCCTTCAACCGTGGTCCAGGTAAGATTTCTATTTCACTTATCATTCACTTATGAATAAGTGAAACAGCCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGAT... | ACCATTCCTTCTTGAACATATCTTTTCCCCTGGACAGTATCTCTTTATTATATCTTATAAGGTATGTGAGAATGATGACAAATCTTGTGGGTCTTATGGCCTTCAACCGTGGTCCAGGTAAGATTTCTATTTCACTTATCATTCACTTATGAATAAGTGAAACAGCCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGAT... | pathogenic | 22,156 |
Is the genetic mutation found on chromosome 1 at position 215798991, within the gene USH2A (usherin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | CTTTATTATATCTTATAAGGTATGTGAGAATGATGACAAATCTTGTGGGTCTTATGGCCTTCAACCGTGGTCCAGGTAAGATTTCTATTTCACTTATCATTCACTTATGAATAAGTGAAACAGCCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGATGAAAGCTAACAGAAGTTGGTTCATGAGGTTTAAGAAAAAAAG... | CTTTATTATATCTTATAAGGTATGTGAGAATGATGACAAATCTTGTGGGTCTTATGGCCTTCAACCGTGGTCCAGGTAAGATTTCTATTTCACTTATCATTCACTTATGAATAAGTGAAACAGCCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGATGAAAGCTAACAGAAGTTGGTTCATGAGGTTTAAGAAAAAAAG... | pathogenic | 22,160 |
Variant at chromosome 1, position 215799053, gene USH2A (usherin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinitis_pigmentosa_39'] | AACCGTGGTCCAGGTAAGATTTCTATTTCACTTATCATTCACTTATGAATAAGTGAAACAGCCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGATGAAAGCTAACAGAAGTTGGTTCATGAGGTTTAAGAAAAAAAGCCATCTTCATAACATAAAAGTGCAAGGTGAAGCAGCAAGTGCTGATGTAGAAACTGCTGCCT... | AACCGTGGTCCAGGTAAGATTTCTATTTCACTTATCATTCACTTATGAATAAGTGAAACAGCCTTATTGCTGATATGAAGACACTTTGAGTGGTCTGGATAGAAGATCAAATCAGTCACAATAGTCCCTTAGGCCAAAGCCTAGTCCAGGCAAGGCTCTTACTCTCTTTAATTCTATGAAGGCTGAGAGAGATGAGGAAGCTGCAGAAGAATAGATGAAAGCTAACAGAAGTTGGTTCATGAGGTTTAAGAAAAAAAGCCATCTTCATAACATAAAAGTGCAAGGTGAAGCAGCAAGTGCTGATGTAGAAACTGCTGCCT... | pathogenic | 22,165 |
The mutation in gene USH2A (usherin) at chromosome 1, position 215813836—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | TCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAACAAACAAACAAATAAAAAAACAAACAAAAAACAAAAACAAACAAAAAACCAACCAAAAAAACCCCTAGGGTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGTTGGAGTGCAGTGGCACCATCTCGGCTCACCGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCTTCAGCCTC... | TCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGGAGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAACAAACAAACAAATAAAAAAACAAACAAAAAACAAAAACAAACAAAAAACCAACCAAAAAAACCCCTAGGGTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTTGCCCAGGTTGGAGTGCAGTGGCACCATCTCGGCTCACCGCAACCTCTGCCTCCCAGATTCAAGCAATTCTCCTGCTTCAGCCTC... | pathogenic | 22,173 |
Considering the genetic mutation at chromosome 1, position 215817028, impacting USH2A (usherin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Usher_syndrome', 'Usher_syndrome_type_2A'] | ATTTTGGGAAACATTGATGTTTACAGTGATTTAGCCAAAAAGCTTTTAAACCCGCAATACAAGTCTCTTTTCTACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTT... | ATTTTGGGAAACATTGATGTTTACAGTGATTTAGCCAAAAAGCTTTTAAACCCGCAATACAAGTCTCTTTTCTACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTT... | pathogenic | 22,180 |
Does the variant on chromosome 1 at location 215817047 affecting gene USH2A (usherin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Usher_syndrome_type_2A'] | TTTACAGTGATTTAGCCAAAAAGCTTTTAAACCCGCAATACAAGTCTCTTTTCTACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAG... | TTTACAGTGATTTAGCCAAAAAGCTTTTAAACCCGCAATACAAGTCTCTTTTCTACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAG... | pathogenic | 22,181 |
Considering the variant on chromosome 1, location 215817093, involving gene USH2A (usherin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Usher_syndrome_type_2A'] | TCTTTTCTACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATT... | TCTTTTCTACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATT... | pathogenic | 22,184 |
Considering the genetic mutation at chromosome 1, position 215817100, impacting USH2A (usherin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39'] | TACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAAT... | TACTTCTCTCCAATCTTTCATGCTAGGAAATGTGTATTAGTACCTAGTCCCAAACTGAACTTTACAATTTTTTTTTTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAAT... | pathogenic | 22,186 |
Chromosome 1, position 215817175, gene USH2A (usherin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAATTTACATTTATTTTCTATAAAAGGTGACCCGTATGATTTTTTTTTTTTTGTAGAGTAGATTTGTCTAAATCATTTT... | TTGAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAATTTACATTTATTTTCTATAAAAGGTGACCCGTATGATTTTTTTTTTTTTGTAGAGTAGATTTGTCTAAATCATTTT... | pathogenic | 22,195 |
Does the variant impacting USH2A (usherin) on chromosome 1, position 215817177, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | GAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAATTTACATTTATTTTCTATAAAAGGTGACCCGTATGATTTTTTTTTTTTTGTAGAGTAGATTTGTCTAAATCATTTTTA... | GAAATTTAACTGACATCCTTTATTCTCTTTTACCGCAATACCTGTGTTGCCTCTTTAAGCTCAACAATAAAAATAAGACTTTGTTTAAGGCATCATTAAATAGTGTGTCTCGTTTTAGTGTAATAAGGTATGACATTTGCATTATAAGAATAACCAAATGTGATGTTTCTTTTCAAGACTATGTGGTGAGATTTGCACACGCCTGTTTTCTAAAGCCTAACTTTTGCTTCCCTATTCATCAATTTACATTTATTTTCTATAAAAGGTGACCCGTATGATTTTTTTTTTTTTGTAGAGTAGATTTGTCTAAATCATTTTTA... | pathogenic | 22,197 |
Mutation found at chromosome 1 position 215838015, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | TTTTAATAGCAACTAAAAATATTTGTCCTCTGTTATTATGTGCAATAATCTTCTTAAAGGAAAAAAAACCTAGAGACACAGTCACATTTGTTCCATTTCTTATAAAGCTTAGACGTTATTTTTAGTTATAAATAAATATGTACTATGAGGCATATTCTGTTACGTCATTCACATGGGCTTGAGTCATGGGGATGCCAGCAGACAAGAATTTGAAAACATCCACCCACCTAACTATAATTCTTCCTTGAGCTTTTCAAGACTGAAGTCAAAGGTCACATCTTCCATGATGCCTTCACTGATAATTCTGGGTAAAGTTTGCT... | TTTTAATAGCAACTAAAAATATTTGTCCTCTGTTATTATGTGCAATAATCTTCTTAAAGGAAAAAAAACCTAGAGACACAGTCACATTTGTTCCATTTCTTATAAAGCTTAGACGTTATTTTTAGTTATAAATAAATATGTACTATGAGGCATATTCTGTTACGTCATTCACATGGGCTTGAGTCATGGGGATGCCAGCAGACAAGAATTTGAAAACATCCACCCACCTAACTATAATTCTTCCTTGAGCTTTTCAAGACTGAAGTCAAAGGTCACATCTTCCATGATGCCTTCACTGATAATTCTGGGTAAAGTTTGCT... | pathogenic | 22,203 |
Variant in USH2A (usherin), chromosome 1, position 215838054—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | GTGCAATAATCTTCTTAAAGGAAAAAAAACCTAGAGACACAGTCACATTTGTTCCATTTCTTATAAAGCTTAGACGTTATTTTTAGTTATAAATAAATATGTACTATGAGGCATATTCTGTTACGTCATTCACATGGGCTTGAGTCATGGGGATGCCAGCAGACAAGAATTTGAAAACATCCACCCACCTAACTATAATTCTTCCTTGAGCTTTTCAAGACTGAAGTCAAAGGTCACATCTTCCATGATGCCTTCACTGATAATTCTGGGTAAAGTTTGCTATTTTTCTCTTTATGTTCTTGCACATCTAAACCTCTTAT... | GTGCAATAATCTTCTTAAAGGAAAAAAAACCTAGAGACACAGTCACATTTGTTCCATTTCTTATAAAGCTTAGACGTTATTTTTAGTTATAAATAAATATGTACTATGAGGCATATTCTGTTACGTCATTCACATGGGCTTGAGTCATGGGGATGCCAGCAGACAAGAATTTGAAAACATCCACCCACCTAACTATAATTCTTCCTTGAGCTTTTCAAGACTGAAGTCAAAGGTCACATCTTCCATGATGCCTTCACTGATAATTCTGGGTAAAGTTTGCTATTTTTCTCTTTATGTTCTTGCACATCTAAACCTCTTAT... | pathogenic | 22,209 |
Does the variant on chromosome 1 at location 215844324 affecting gene USH2A (usherin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CAGAATGGTGATTATTGAAAAGTCAAGTAACAACAGATGCTGGTGAAGCTGTGGAGAAATAGAAGGGCTTTTACACTGTTGGTGGGAATGTAAATTAGTTCAACCATTGTGAAAGACAGTGTGGTGGGTCCTCAAAGACCTAGGACCAGAAACACAATTAGACCCAGCCATCCCATTACTGGGTATATACCCAAAGAAATATAAATCATTCTATTATAAAGATACAAGCACATATATGTTCATTGCAGCACTATTAACAATAGCAATGACATGGAATCAACCCAAACGTCCATCAATTATAGACTGGATAAAGAAAATGT... | CAGAATGGTGATTATTGAAAAGTCAAGTAACAACAGATGCTGGTGAAGCTGTGGAGAAATAGAAGGGCTTTTACACTGTTGGTGGGAATGTAAATTAGTTCAACCATTGTGAAAGACAGTGTGGTGGGTCCTCAAAGACCTAGGACCAGAAACACAATTAGACCCAGCCATCCCATTACTGGGTATATACCCAAAGAAATATAAATCATTCTATTATAAAGATACAAGCACATATATGTTCATTGCAGCACTATTAACAATAGCAATGACATGGAATCAACCCAAACGTCCATCAATTATAGACTGGATAAAGAAAATGT... | pathogenic | 22,221 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215844441, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39'] | AGTGTGGTGGGTCCTCAAAGACCTAGGACCAGAAACACAATTAGACCCAGCCATCCCATTACTGGGTATATACCCAAAGAAATATAAATCATTCTATTATAAAGATACAAGCACATATATGTTCATTGCAGCACTATTAACAATAGCAATGACATGGAATCAACCCAAACGTCCATCAATTATAGACTGGATAAAGAAAATGTGGTACATGTACACCATGGAATACCATGCAGCCATAAAAAGGAATGAGATCATGTCCTTTACAGGGACATAGATGGAGCTGGAAGCCATTTTATCCTCAGCAAACTAACACAGGAACA... | AGTGTGGTGGGTCCTCAAAGACCTAGGACCAGAAACACAATTAGACCCAGCCATCCCATTACTGGGTATATACCCAAAGAAATATAAATCATTCTATTATAAAGATACAAGCACATATATGTTCATTGCAGCACTATTAACAATAGCAATGACATGGAATCAACCCAAACGTCCATCAATTATAGACTGGATAAAGAAAATGTGGTACATGTACACCATGGAATACCATGCAGCCATAAAAAGGAATGAGATCATGTCCTTTACAGGGACATAGATGGAGCTGGAAGCCATTTTATCCTCAGCAAACTAACACAGGAACA... | pathogenic | 22,226 |
The chromosome 1, position 215845822 genetic variant in gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Inborn_genetic_diseases', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CTTCCTGTTGCATTCAGAATCACAGAATGCTAGAGGTGGCTAGAATGTTTTAAGACATCTAGTCCATTGCGCTTACAAAAGAGGAAATTGACACCAAGTGAAGTTTCATAACTTCTCTGGAGATATTAAATTAGTAAATAGGAGAAATGGGAAGAGAAAAAAACATCTCCACATTTACAAACTGATTCTGATTTTGATTTCAGTAAAAGATCCTGGGAAAAGGTAAGCTGCTCAACAAGATTTATTTAGAATACATGATTAGCTTTATTTTGCCAGTGAGAATTTCATCACCATCCTCATCACCATCGTTTTCCATATTA... | CTTCCTGTTGCATTCAGAATCACAGAATGCTAGAGGTGGCTAGAATGTTTTAAGACATCTAGTCCATTGCGCTTACAAAAGAGGAAATTGACACCAAGTGAAGTTTCATAACTTCTCTGGAGATATTAAATTAGTAAATAGGAGAAATGGGAAGAGAAAAAAACATCTCCACATTTACAAACTGATTCTGATTTTGATTTCAGTAAAAGATCCTGGGAAAAGGTAAGCTGCTCAACAAGATTTATTTAGAATACATGATTAGCTTTATTTTGCCAGTGAGAATTTCATCACCATCCTCATCACCATCGTTTTCCATATTA... | pathogenic | 22,229 |
Assess the variant on chromosome 1, position 215845960, impacting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TAGGAGAAATGGGAAGAGAAAAAAACATCTCCACATTTACAAACTGATTCTGATTTTGATTTCAGTAAAAGATCCTGGGAAAAGGTAAGCTGCTCAACAAGATTTATTTAGAATACATGATTAGCTTTATTTTGCCAGTGAGAATTTCATCACCATCCTCATCACCATCGTTTTCCATATTATCATTATCTTCTCTCCAGAGACTCACATGTTTGCCTACAGCACACAGATTTAATTCTGATCAATTTCCCTTCTCTCTTTTCCCTTCCCCACCAAAGAAATAATCTGTAACCAAGACAGAAGATATCCACTTGAAGACA... | TAGGAGAAATGGGAAGAGAAAAAAACATCTCCACATTTACAAACTGATTCTGATTTTGATTTCAGTAAAAGATCCTGGGAAAAGGTAAGCTGCTCAACAAGATTTATTTAGAATACATGATTAGCTTTATTTTGCCAGTGAGAATTTCATCACCATCCTCATCACCATCGTTTTCCATATTATCATTATCTTCTCTCCAGAGACTCACATGTTTGCCTACAGCACACAGATTTAATTCTGATCAATTTCCCTTCTCTCTTTTCCCTTCCCCACCAAAGAAATAATCTGTAACCAAGACAGAAGATATCCACTTGAAGACA... | pathogenic | 22,233 |
Evaluate the clinical significance of the mutation at chromosome 1, position 215867127 in gene USH2A (usherin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | TTCCTATCCAATCAAGACAACAATTTAAAATTAAAATTGCAAAAAATAGGCCACCTTTCACAGAGGATCGACTAGTTAATTTACTTAAGATAGCAAGTTGCCCAAAAGAAGAAAATGATAATGCAACAAGCTTTCGCAAGACTGACCCTCTTCTGAGAGTTAACCTTTGTGCTCACAAATAGTTATCTGAAAAATTTCCAAGGTATGAATGGAAATAACAGCAGATTGCATTACCTACATCCCGAAGGTCAGAGGTTCAGATTACCAAGGTAATGAAACTTCAGTGAGCTGCTTCAGATCTATTAGGTTTGTCAGTTTTT... | TTCCTATCCAATCAAGACAACAATTTAAAATTAAAATTGCAAAAAATAGGCCACCTTTCACAGAGGATCGACTAGTTAATTTACTTAAGATAGCAAGTTGCCCAAAAGAAGAAAATGATAATGCAACAAGCTTTCGCAAGACTGACCCTCTTCTGAGAGTTAACCTTTGTGCTCACAAATAGTTATCTGAAAAATTTCCAAGGTATGAATGGAAATAACAGCAGATTGCATTACCTACATCCCGAAGGTCAGAGGTTCAGATTACCAAGGTAATGAAACTTCAGTGAGCTGCTTCAGATCTATTAGGTTTGTCAGTTTTT... | pathogenic | 22,243 |
Gene mutation in USH2A (usherin) at chromosome 1, position 215877769—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome'] | AGTCAAGTTCTATTTATTTTTTGAAATAGTTATATTTAAGCACTTAAGAGTTCATAGGTCACAGGAAGCTACTATTTGAAGTGATTTCTTTAGGCAGAATTGGTGACTTTGTAGATAACTCTGAGGACAGCAATTAATATATATATTAATTATATATATTATTAATTATATATAATAATCAATATATAAATATATAATATATATTGATTATTATATATAATTAATAATGTATATAATATATAAAAATACATATTATATCACACTCTCTATGGAGGGGGCGGGGGGAAGGGTTCCTCCACTAGATTATAAGTTCTTTGAGG... | AGTCAAGTTCTATTTATTTTTTGAAATAGTTATATTTAAGCACTTAAGAGTTCATAGGTCACAGGAAGCTACTATTTGAAGTGATTTCTTTAGGCAGAATTGGTGACTTTGTAGATAACTCTGAGGACAGCAATTAATATATATATTAATTATATATATTATTAATTATATATAATAATCAATATATAAATATATAATATATATTGATTATTATATATAATTAATAATGTATATAATATATAAAAATACATATTATATCACACTCTCTATGGAGGGGGCGGGGGGAAGGGTTCCTCCACTAGATTATAAGTTCTTTGAGG... | pathogenic | 22,256 |
Mutation found at chromosome 1 position 215877797, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_39'] | GTTATATTTAAGCACTTAAGAGTTCATAGGTCACAGGAAGCTACTATTTGAAGTGATTTCTTTAGGCAGAATTGGTGACTTTGTAGATAACTCTGAGGACAGCAATTAATATATATATTAATTATATATATTATTAATTATATATAATAATCAATATATAAATATATAATATATATTGATTATTATATATAATTAATAATGTATATAATATATAAAAATACATATTATATCACACTCTCTATGGAGGGGGCGGGGGGAAGGGTTCCTCCACTAGATTATAAGTTCTTTGAGGTCAAGGGCTAAGATGTATTTATCTTTTG... | GTTATATTTAAGCACTTAAGAGTTCATAGGTCACAGGAAGCTACTATTTGAAGTGATTTCTTTAGGCAGAATTGGTGACTTTGTAGATAACTCTGAGGACAGCAATTAATATATATATTAATTATATATATTATTAATTATATATAATAATCAATATATAAATATATAATATATATTGATTATTATATATAATTAATAATGTATATAATATATAAAAATACATATTATATCACACTCTCTATGGAGGGGGCGGGGGGAAGGGTTCCTCCACTAGATTATAAGTTCTTTGAGGTCAAGGGCTAAGATGTATTTATCTTTTG... | pathogenic | 22,258 |
Chromosome 1, position 215878930, gene USH2A (usherin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | AAGAAAGGGATGGGAGACAAGGCTAGAATGGTAAACAGGGTTCAGACTACAGCTACCCAGTGGTGGGTCTAGAAAAATAATGACCCACATAGAAAAGTTACTGAAACATATGATCGAGGAGTTTTCATAAAATAACGTTCATGTTTTCTGAAATTTAATCACATTGCTTGAACTCATGAAGATTTAGAAGTCATTTAATTCTATAAAATCACCTCATTTTATGGACAACAAAAATGAAGCCCAGAGAAGTTAAGTGATTTTTAAGTAGTGAAGCTTTGTGGCCTAAAGTCACAAAGCTAGTTCTCCAGCACAGGCTAAAG... | AAGAAAGGGATGGGAGACAAGGCTAGAATGGTAAACAGGGTTCAGACTACAGCTACCCAGTGGTGGGTCTAGAAAAATAATGACCCACATAGAAAAGTTACTGAAACATATGATCGAGGAGTTTTCATAAAATAACGTTCATGTTTTCTGAAATTTAATCACATTGCTTGAACTCATGAAGATTTAGAAGTCATTTAATTCTATAAAATCACCTCATTTTATGGACAACAAAAATGAAGCCCAGAGAAGTTAAGTGATTTTTAAGTAGTGAAGCTTTGTGGCCTAAAGTCACAAAGCTAGTTCTCCAGCACAGGCTAAAG... | pathogenic | 22,274 |
Evaluate if the mutation on chromosome 1 at position 215879081 in USH2A (usherin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AATTTAATCACATTGCTTGAACTCATGAAGATTTAGAAGTCATTTAATTCTATAAAATCACCTCATTTTATGGACAACAAAAATGAAGCCCAGAGAAGTTAAGTGATTTTTAAGTAGTGAAGCTTTGTGGCCTAAAGTCACAAAGCTAGTTCTCCAGCACAGGCTAAAGCAGAACCAGATCTCCTAACTCTCCCATGTAGCACCCTTTTCTACTGTCACCTATTAGCCTTTACTGAATGTCTTTGAACTCTAGATTGAATTCTTTCAAGTCCCAATCCTGTTCACTAATGTTTTCTTTTGCGGACTGAATCAATAACTTA... | AATTTAATCACATTGCTTGAACTCATGAAGATTTAGAAGTCATTTAATTCTATAAAATCACCTCATTTTATGGACAACAAAAATGAAGCCCAGAGAAGTTAAGTGATTTTTAAGTAGTGAAGCTTTGTGGCCTAAAGTCACAAAGCTAGTTCTCCAGCACAGGCTAAAGCAGAACCAGATCTCCTAACTCTCCCATGTAGCACCCTTTTCTACTGTCACCTATTAGCCTTTACTGAATGTCTTTGAACTCTAGATTGAATTCTTTCAAGTCCCAATCCTGTTCACTAATGTTTTCTTTTGCGGACTGAATCAATAACTTA... | pathogenic | 22,284 |
Regarding the variant at chromosome 1 and position 215879089, affecting gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa_39'] | CACATTGCTTGAACTCATGAAGATTTAGAAGTCATTTAATTCTATAAAATCACCTCATTTTATGGACAACAAAAATGAAGCCCAGAGAAGTTAAGTGATTTTTAAGTAGTGAAGCTTTGTGGCCTAAAGTCACAAAGCTAGTTCTCCAGCACAGGCTAAAGCAGAACCAGATCTCCTAACTCTCCCATGTAGCACCCTTTTCTACTGTCACCTATTAGCCTTTACTGAATGTCTTTGAACTCTAGATTGAATTCTTTCAAGTCCCAATCCTGTTCACTAATGTTTTCTTTTGCGGACTGAATCAATAACTTACAATCAAT... | CACATTGCTTGAACTCATGAAGATTTAGAAGTCATTTAATTCTATAAAATCACCTCATTTTATGGACAACAAAAATGAAGCCCAGAGAAGTTAAGTGATTTTTAAGTAGTGAAGCTTTGTGGCCTAAAGTCACAAAGCTAGTTCTCCAGCACAGGCTAAAGCAGAACCAGATCTCCTAACTCTCCCATGTAGCACCCTTTTCTACTGTCACCTATTAGCCTTTACTGAATGTCTTTGAACTCTAGATTGAATTCTTTCAAGTCCCAATCCTGTTCACTAATGTTTTCTTTTGCGGACTGAATCAATAACTTACAATCAAT... | pathogenic | 22,285 |
Is chromosome 1, position 215888455, gene USH2A (usherin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa_39'] | GAAGGACAGATATGTTATCTTAATACTCTTTAAATAGTATATAGCATTAAATACTAGACTCAGTTGAATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTC... | GAAGGACAGATATGTTATCTTAATACTCTTTAAATAGTATATAGCATTAAATACTAGACTCAGTTGAATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTC... | pathogenic | 22,290 |
The mutation in gene USH2A (usherin) at chromosome 1, position 215888469—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TTATCTTAATACTCTTTAAATAGTATATAGCATTAAATACTAGACTCAGTTGAATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTAC... | TTATCTTAATACTCTTTAAATAGTATATAGCATTAAATACTAGACTCAGTTGAATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTAC... | pathogenic | 22,291 |
Does the chromosome 1 mutation at position 215888505 within gene USH2A (usherin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_39'] | ATACTAGACTCAGTTGAATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCC... | ATACTAGACTCAGTTGAATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCC... | pathogenic | 22,293 |
Evaluate this variant at chromosome 1, position 215888521, gene USH2A (usherin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Usher_syndrome_type_2A'] | AATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTT... | AATATTCCTGCTGATTCTATTGATAACTTTTTATTTCCTAGTTATAAGATGAGAATAAAAAGTGTGAATTTTTAGAATATTACTAGTGTACCATGTTCATATATTTCAGACACCTTCTTAGAGACATTGAGATTCCTGACTTGGGGTTACCAATGCCTTGTGGCCTCAGGTGAGTGCCTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTT... | pathogenic | 22,295 |
Gene USH2A (usherin) variant at chromosome position 215888698 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'] | CTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT... | CTATGAGATTCAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCT... | pathogenic | 22,302 |
Clinical significance of chromosome 1, position 215888708, gene USH2A (usherin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2'] | CAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT... | CAGCTTTCTAGCCACGCTAATCTAAACTTCTCTAGCAGGCTGACAAGCCATGTATATTGTTTAATTCATGGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT... | pathogenic | 22,303 |
Assess the variant on chromosome 1, position 215888777, impacting USH2A (usherin): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | GGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACG... | GGATGATATTACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACG... | pathogenic | 22,305 |
A genetic alteration at chromosome 1, position 215888786, in gene USH2A (usherin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Usher_syndrome', 'Usher_syndrome_type_2A'] | TACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC... | TACAAAATCAAAAGAGGGTAAAAATGTGAAGAAAAAGCCAGGCAAGCTGATACTTTTAATTATTGTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC... | pathogenic | 22,306 |
Variant in gene USH2A (usherin), located at chromosome 1 position 215888850: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39'] | GTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGT... | GTTTATATATGCTGAATCAAGCAGAATTGTACACTGAGTTCCTCCTCTGAAAATACTTATTTTTTTTTTCTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCATAATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGT... | pathogenic | 22,308 |
Does the variant on chromosome 1 at location 215889028 affecting gene USH2A (usherin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGAAAATACTTACTCTTTTTCAGATCGGCCACAATCAGTAACGCCTAGTTATAAGATTTTTATTCGAAATAATCCAGAACAATGTCCATTATGTAGTGTTGCCTTTGTAAAGAGACTGTGTTTGTTTTGTTGCATCATAGTGA... | CCCGAGTAGCTGGGACTATAGGTGCCCGCCACCAAGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGATGGTCTCGATCTCCTGACCTCATGATCTGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGAAAATACTTACTCTTTTTCAGATCGGCCACAATCAGTAACGCCTAGTTATAAGATTTTTATTCGAAATAATCCAGAACAATGTCCATTATGTAGTGTTGCCTTTGTAAAGAGACTGTGTTTGTTTTGTTGCATCATAGTGA... | pathogenic | 22,314 |
Considering the genetic mutation at chromosome 1, position 215900072, impacting USH2A (usherin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TGACATCTAAAATATACAGTACCCTGTCACCATGTCTCAGGTGCACTGCTAACGTAACCTGCAGGTACACATGGCCTCCTTCCAGTTCTTTGCTATGTATGTGACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGAT... | TGACATCTAAAATATACAGTACCCTGTCACCATGTCTCAGGTGCACTGCTAACGTAACCTGCAGGTACACATGGCCTCCTTCCAGTTCTTTGCTATGTATGTGACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGAT... | pathogenic | 22,325 |
Does the chromosome 1 mutation at position 215900080 within gene USH2A (usherin) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_39'] | AAAATATACAGTACCCTGTCACCATGTCTCAGGTGCACTGCTAACGTAACCTGCAGGTACACATGGCCTCCTTCCAGTTCTTTGCTATGTATGTGACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGT... | AAAATATACAGTACCCTGTCACCATGTCTCAGGTGCACTGCTAACGTAACCTGCAGGTACACATGGCCTCCTTCCAGTTCTTTGCTATGTATGTGACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGT... | pathogenic | 22,327 |
Chromosome 1, position 215900144, gene USH2A (usherin): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | GGCCTCCTTCCAGTTCTTTGCTATGTATGTGACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGTGTGGTCTATAAGGCTTGTTTTATAGTAAAAAGGAGACCAAAGGTAAGTTTGCTCAACAAAGGAT... | GGCCTCCTTCCAGTTCTTTGCTATGTATGTGACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGTGTGGTCTATAAGGCTTGTTTTATAGTAAAAAGGAGACCAAAGGTAAGTTTGCTCAACAAAGGAT... | pathogenic | 22,331 |
Is the genetic change at chromosome 1, position 215900175, within gene USH2A (usherin) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | ACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGTGTGGTCTATAAGGCTTGTTTTATAGTAAAAAGGAGACCAAAGGTAAGTTTGCTCAACAAAGGATGCTATGCTAATTGGTATTTTACAATATTTTG... | ACTTCACAGTGTATACACAAAGCAGAGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGTGTGGTCTATAAGGCTTGTTTTATAGTAAAAAGGAGACCAAAGGTAAGTTTGCTCAACAAAGGATGCTATGCTAATTGGTATTTTACAATATTTTG... | pathogenic | 22,334 |
Variant in gene USH2A (usherin), located at chromosome 1 position 215900200: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy'] | AGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGTGTGGTCTATAAGGCTTGTTTTATAGTAAAAAGGAGACCAAAGGTAAGTTTGCTCAACAAAGGATGCTATGCTAATTGGTATTTTACAATATTTTGGACTTTTGCTTATTTATGTGCTACC... | AGGAAGGAAGAGTTCATTCATTTTGGGGAACGGATTTAAACACAAATAATGGTTATGAGTTGATACCTGCTATTTATTCAAGTGTTACTAATTCTTACTTAAGGAAAATGAAGGGTTAATACCACTCACTTTAAACTCAAGCCCTAAATACCACAACAATGGAGGGTCTCTGGGTATGAAAATTCTAACGATGTGTATGTGTGGTCTATAAGGCTTGTTTTATAGTAAAAAGGAGACCAAAGGTAAGTTTGCTCAACAAAGGATGCTATGCTAATTGGTATTTTACAATATTTTGGACTTTTGCTTATTTATGTGCTACC... | pathogenic | 22,338 |
The genetic variant at chromosome 1, position 215900900, affecting gene USH2A (usherin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39'] | GAATTAATGCTTTCTGGACTTTGGGTGCCATTTATCGTACTGTGCTGATAATTTACTAAATGATACCCTTGAGAACAAAAACACTGAGTGTCCCCTTGCAAAGTAGCTAACTTTCTCCCAGGGAGTAATTACGAATTGGAAGAAATGAATTAAGTAACATACATTATTGCTCATAAAGGTGGCTTTTTTTTGTAAAAATAAAGTCAACTTTAAACAAGATAGATTGTACTGATAATGTCTAATTTGATGTCTTATCTTCACTAAAATAATGCAATTAAAGGTATTATAGAAATAAAACAATACATTTAATAAACAATTGA... | GAATTAATGCTTTCTGGACTTTGGGTGCCATTTATCGTACTGTGCTGATAATTTACTAAATGATACCCTTGAGAACAAAAACACTGAGTGTCCCCTTGCAAAGTAGCTAACTTTCTCCCAGGGAGTAATTACGAATTGGAAGAAATGAATTAAGTAACATACATTATTGCTCATAAAGGTGGCTTTTTTTTGTAAAAATAAAGTCAACTTTAAACAAGATAGATTGTACTGATAATGTCTAATTTGATGTCTTATCTTCACTAAAATAATGCAATTAAAGGTATTATAGAAATAAAACAATACATTTAATAAACAATTGA... | pathogenic | 22,344 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215934785, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AGAGTGTGGGCCTGCAGTGCATTATGGTAATGACACAGATAAGCATCCACAGAGCAAAGATGAAGATAAGCCTCAGTTAATGGTTTACTCAGTTTGACTGCACCACTATAAAACAATATTTTAGTTTCTTTCTATTTGTATAATATTAACCCTTTTACTGACAGGTATATTCACATAGCGCATATTCCGTTAGCAGTAGGACCTTGCTATTTTTAATTGAATCTTGATATATGTATAAATAACAAATTATTAGACCATACATTCCTAAAAACATAAACAATGAATTAAATTTGCCCTATTTTATGAATATGATATAAATT... | AGAGTGTGGGCCTGCAGTGCATTATGGTAATGACACAGATAAGCATCCACAGAGCAAAGATGAAGATAAGCCTCAGTTAATGGTTTACTCAGTTTGACTGCACCACTATAAAACAATATTTTAGTTTCTTTCTATTTGTATAATATTAACCCTTTTACTGACAGGTATATTCACATAGCGCATATTCCGTTAGCAGTAGGACCTTGCTATTTTTAATTGAATCTTGATATATGTATAAATAACAAATTATTAGACCATACATTCCTAAAAACATAAACAATGAATTAAATTTGCCCTATTTTATGAATATGATATAAATT... | pathogenic | 22,359 |
Classify the chromosome 1 variant at position 215934808 affecting gene USH2A (usherin) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | ATGGTAATGACACAGATAAGCATCCACAGAGCAAAGATGAAGATAAGCCTCAGTTAATGGTTTACTCAGTTTGACTGCACCACTATAAAACAATATTTTAGTTTCTTTCTATTTGTATAATATTAACCCTTTTACTGACAGGTATATTCACATAGCGCATATTCCGTTAGCAGTAGGACCTTGCTATTTTTAATTGAATCTTGATATATGTATAAATAACAAATTATTAGACCATACATTCCTAAAAACATAAACAATGAATTAAATTTGCCCTATTTTATGAATATGATATAAATTACTGTAAATCACAAACTATTTAA... | ATGGTAATGACACAGATAAGCATCCACAGAGCAAAGATGAAGATAAGCCTCAGTTAATGGTTTACTCAGTTTGACTGCACCACTATAAAACAATATTTTAGTTTCTTTCTATTTGTATAATATTAACCCTTTTACTGACAGGTATATTCACATAGCGCATATTCCGTTAGCAGTAGGACCTTGCTATTTTTAATTGAATCTTGATATATGTATAAATAACAAATTATTAGACCATACATTCCTAAAAACATAAACAATGAATTAAATTTGCCCTATTTTATGAATATGATATAAATTACTGTAAATCACAAACTATTTAA... | benign | 22,362 |
Does the variant impacting USH2A (usherin) on chromosome 1, position 215965360, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Usher_syndrome', 'Usher_syndrome_type_2A'] | ATCCTTTCAGTTAACAGTGGACATGAGAGTTCCAGTGCCAGTGAACCAATGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCG... | ATCCTTTCAGTTAACAGTGGACATGAGAGTTCCAGTGCCAGTGAACCAATGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCG... | pathogenic | 22,364 |
Clinical classification of chromosome 1, position 215965377, gene USH2A (usherin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_39'] | TGGACATGAGAGTTCCAGTGCCAGTGAACCAATGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCGTTGCTGAAGAATATATA... | TGGACATGAGAGTTCCAGTGCCAGTGAACCAATGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCGTTGCTGAAGAATATATA... | pathogenic | 22,366 |
Variant at chromosome 1, position 215965409, gene USH2A (usherin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Usher_syndrome_type_2', 'Usher_syndrome_type_2A'] | TGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCGTTGCTGAAGAATATATAATGGTTAAAAAGTCACTTTTTTCCTCCAGCTC... | TGACACGAATTTTCCTGGGGCCCATCTCAGATGCTCCTTTTGCTTCCAACCTCACCCCTTTCCAACCCCTGAGTTGAACCCGTACCGCAAAAATTCTTTAAGTCAAATCTCGTAATTGCTTCCAATTTGTCTGTTTTGCTTTTGGCAATTAACAAACTGAAATGTTATCACGAAGGAGTTCATCTCATTTATAAGACCAGGTTTTCCCTCCACTAAAATATGCAGGCACTCTGTTCTTTATTACCAGCAGGAGATAAATGGCTGGTTTTCGTTGCTGAAGAATATATAATGGTTAAAAAGTCACTTTTTTCCTCCAGCTC... | pathogenic | 22,369 |
Mutation found at chromosome 1 position 215970625, gene USH2A (usherin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_39'] | ACCATATCATATTTGGGACTGTGAAGCATATTCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTT... | ACCATATCATATTTGGGACTGTGAAGCATATTCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTT... | pathogenic | 22,376 |
Benign or pathogenic: chromosome 1, position 215970650, gene USH2A (usherin) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39'] | GCATATTCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAA... | GCATATTCCTCATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAA... | pathogenic | 22,378 |
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 215970661, gene USH2A (usherin): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome', 'Usher_syndrome_type_2A'] | ATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGATTCAT... | ATAGAAAACATTGAATAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGATTCAT... | pathogenic | 22,383 |
Considering the genetic mutation at chromosome 1, position 215970676, impacting USH2A (usherin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Usher_syndrome_type_2A'] | TAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGATTCATAGATTTCTTAAGTCA... | TAGTATTTCCCTGCATGTGTGGATAATCTAAAGAACAAGAATTATCATTAAGAAATATTAGATGAACAAAAAAATTGAACTCTTTCAAAATTTATTCTGATTTCTGCCAGCAAAATATTTAAAAATAGAAATGATAAATTTTCTGTTTCAATGAAATTTTTTATTTAAAATGTCATAGCATCGGGCTCTATTTAGATGAATATCTTAAGAAACCGTTGTACACCATTGCCACGTTTGACTGAATTTTGTTGAGTATCACATCATAATTTAATGATAGAAAACTCTGCCTTTTAAGATTGATTCATAGATTTCTTAAGTCA... | pathogenic | 22,384 |
Does the genetic variant at chromosome 1, position 215993027, impacting gene USH2A (usherin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Rare_genetic_deafness', 'Retinal_dystrophy', 'Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | TCTCGATCTCCTGACCTCATGATCCACCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGCCTGTTAATCTCAATTTTCTAATCAAGGAAATTGGGGTCCATGGAAGTTAATGAATTTCCTGAGGTAACACAGTCACTATACATCAGAAACAATTTTTGACTCTAGGCCTATTTGACTCCACCCATGTTTTCCAACCCAACATTAAGCCATAAATATTCCAGCATGGCTAGAAAGGAAGATATGTTATAAGGCAATGTGTATTCAGGTTGAGTCACAAGTTGGTAGTAACCTGAATACCA... | TCTCGATCTCCTGACCTCATGATCCACCCCCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAGGCCCAGCCTGTTAATCTCAATTTTCTAATCAAGGAAATTGGGGTCCATGGAAGTTAATGAATTTCCTGAGGTAACACAGTCACTATACATCAGAAACAATTTTTGACTCTAGGCCTATTTGACTCCACCCATGTTTTCCAACCCAACATTAAGCCATAAATATTCCAGCATGGCTAGAAAGGAAGATATGTTATAAGGCAATGTGTATTCAGGTTGAGTCACAAGTTGGTAGTAACCTGAATACCA... | pathogenic | 22,389 |
Regarding the variant found on chromosome 1 at position 215993107 in gene USH2A (usherin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | CCTGTTAATCTCAATTTTCTAATCAAGGAAATTGGGGTCCATGGAAGTTAATGAATTTCCTGAGGTAACACAGTCACTATACATCAGAAACAATTTTTGACTCTAGGCCTATTTGACTCCACCCATGTTTTCCAACCCAACATTAAGCCATAAATATTCCAGCATGGCTAGAAAGGAAGATATGTTATAAGGCAATGTGTATTCAGGTTGAGTCACAAGTTGGTAGTAACCTGAATACCAGACTAAAAAATTTAGACTTTATTCTTTGGGTATTTGAGGAGAGGTGTGGGGACTTCGAAGACAGATGGAGAGACAAGATG... | CCTGTTAATCTCAATTTTCTAATCAAGGAAATTGGGGTCCATGGAAGTTAATGAATTTCCTGAGGTAACACAGTCACTATACATCAGAAACAATTTTTGACTCTAGGCCTATTTGACTCCACCCATGTTTTCCAACCCAACATTAAGCCATAAATATTCCAGCATGGCTAGAAAGGAAGATATGTTATAAGGCAATGTGTATTCAGGTTGAGTCACAAGTTGGTAGTAACCTGAATACCAGACTAAAAAATTTAGACTTTATTCTTTGGGTATTTGAGGAGAGGTGTGGGGACTTCGAAGACAGATGGAGAGACAAGATG... | pathogenic | 22,393 |
Is the genetic variant on chromosome 1, position 215993152, gene USH2A (usherin), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa_39', 'Usher_syndrome_type_2A'] | AGTTAATGAATTTCCTGAGGTAACACAGTCACTATACATCAGAAACAATTTTTGACTCTAGGCCTATTTGACTCCACCCATGTTTTCCAACCCAACATTAAGCCATAAATATTCCAGCATGGCTAGAAAGGAAGATATGTTATAAGGCAATGTGTATTCAGGTTGAGTCACAAGTTGGTAGTAACCTGAATACCAGACTAAAAAATTTAGACTTTATTCTTTGGGTATTTGAGGAGAGGTGTGGGGACTTCGAAGACAGATGGAGAGACAAGATGTTTTCCAACAATCAGATTATCCCTCTCTAGACAATCAACAAGAGA... | AGTTAATGAATTTCCTGAGGTAACACAGTCACTATACATCAGAAACAATTTTTGACTCTAGGCCTATTTGACTCCACCCATGTTTTCCAACCCAACATTAAGCCATAAATATTCCAGCATGGCTAGAAAGGAAGATATGTTATAAGGCAATGTGTATTCAGGTTGAGTCACAAGTTGGTAGTAACCTGAATACCAGACTAAAAAATTTAGACTTTATTCTTTGGGTATTTGAGGAGAGGTGTGGGGACTTCGAAGACAGATGGAGAGACAAGATGTTTTCCAACAATCAGATTATCCCTCTCTAGACAATCAACAAGAGA... | pathogenic | 22,397 |
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