question stringlengths 84 268 | answer stringlengths 6 879 | reference_sequence stringlengths 4.1k 4.1k | mutated_sequence stringlengths 4.1k 4.1k | cleaned_pathogenicity stringclasses 2
values | __index_level_0__ int64 67 343k |
|---|---|---|---|---|---|
The chromosome 6, position 64307084 genetic variant in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate disease(s). | benign | ACTCAACAAAATTGACAAATCTTTAGTTAGATGGATTAAGGAAAATAAAAAGAAGACTCAATTAACTGAACTTAGTTGATGATATTGTAAATAAAATTGATTTTGTAATTACTTTTTCAGATTGCTCATGCTTAGTGGGTAGAAATGCAGTTTACTTTTGGTTGACTTAACCAAAGCAGTGAATGTCTTCTACAATAGAAACTACTAAACATTGCTGAAAGAAATAGAGACATAAATAAATGGAATCACATCTCATGTTTATGAATTGGAAAAAAGTGATATACAGATTTGGTGCAATCCCCAACAAAATCCCAGTGATT... | ACTCAACAAAATTGACAAATCTTTAGTTAGATGGATTAAGGAAAATAAAAAGAAGACTCAATTAACTGAACTTAGTTGATGATATTGTAAATAAAATTGATTTTGTAATTACTTTTTCAGATTGCTCATGCTTAGTGGGTAGAAATGCAGTTTACTTTTGGTTGACTTAACCAAAGCAGTGAATGTCTTCTACAATAGAAACTACTAAACATTGCTGAAAGAAATAGAGACATAAATAAATGGAATCACATCTCATGTTTATGAATTGGAAAAAAGTGATATACAGATTTGGTGCAATCCCCAACAAAATCCCAGTGATT... | benign | 109,678 |
Gene mutation in EYS (eyes shut homolog) at chromosome 6, position 64307084—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | ACTCAACAAAATTGACAAATCTTTAGTTAGATGGATTAAGGAAAATAAAAAGAAGACTCAATTAACTGAACTTAGTTGATGATATTGTAAATAAAATTGATTTTGTAATTACTTTTTCAGATTGCTCATGCTTAGTGGGTAGAAATGCAGTTTACTTTTGGTTGACTTAACCAAAGCAGTGAATGTCTTCTACAATAGAAACTACTAAACATTGCTGAAAGAAATAGAGACATAAATAAATGGAATCACATCTCATGTTTATGAATTGGAAAAAAGTGATATACAGATTTGGTGCAATCCCCAACAAAATCCCAGTGATT... | ACTCAACAAAATTGACAAATCTTTAGTTAGATGGATTAAGGAAAATAAAAAGAAGACTCAATTAACTGAACTTAGTTGATGATATTGTAAATAAAATTGATTTTGTAATTACTTTTTCAGATTGCTCATGCTTAGTGGGTAGAAATGCAGTTTACTTTTGGTTGACTTAACCAAAGCAGTGAATGTCTTCTACAATAGAAACTACTAAACATTGCTGAAAGAAATAGAGACATAAATAAATGGAATCACATCTCATGTTTATGAATTGGAAAAAAGTGATATACAGATTTGGTGCAATCCCCAACAAAATCCCAGTGATT... | benign | 109,679 |
Chromosome 6, position 64388806, gene EYS (eyes shut homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | TTAAGTTCAATAGCATTCATAATTATTCTCCCACCCTTATTGCCAAAATACCTTTTTTGTTTAATTATTCTGAACAAACCTGACTTTGCCATTTCTTACGATGTAGTCCTAACCCCTCCAGTTGTACACTTTGGTTGCTATCAGAGTGAACATAGCATGATGACAATTCCTACTCAAACTTTTTAAATGGCTCCCCCATTTAAGAAGTATGTAATGTATAGTATATGTATATGGCAGCAATATGTAAATATATACCATTTTGCATTTTACATAGGATTAATTATTCTCTGGCTCCCACTCACCTATCCAAAATCAAGTGT... | TTAAGTTCAATAGCATTCATAATTATTCTCCCACCCTTATTGCCAAAATACCTTTTTTGTTTAATTATTCTGAACAAACCTGACTTTGCCATTTCTTACGATGTAGTCCTAACCCCTCCAGTTGTACACTTTGGTTGCTATCAGAGTGAACATAGCATGATGACAATTCCTACTCAAACTTTTTAAATGGCTCCCCCATTTAAGAAGTATGTAATGTATAGTATATGTATATGGCAGCAATATGTAAATATATACCATTTTGCATTTTACATAGGATTAATTATTCTCTGGCTCCCACTCACCTATCCAAAATCAAGTGT... | pathogenic | 109,683 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 64388840, gene EYS (eyes shut homolog): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | CCTTATTGCCAAAATACCTTTTTTGTTTAATTATTCTGAACAAACCTGACTTTGCCATTTCTTACGATGTAGTCCTAACCCCTCCAGTTGTACACTTTGGTTGCTATCAGAGTGAACATAGCATGATGACAATTCCTACTCAAACTTTTTAAATGGCTCCCCCATTTAAGAAGTATGTAATGTATAGTATATGTATATGGCAGCAATATGTAAATATATACCATTTTGCATTTTACATAGGATTAATTATTCTCTGGCTCCCACTCACCTATCCAAAATCAAGTGTTCTTTCTGCTCACTTCATATCAAACCCCATGTCT... | CCTTATTGCCAAAATACCTTTTTTGTTTAATTATTCTGAACAAACCTGACTTTGCCATTTCTTACGATGTAGTCCTAACCCCTCCAGTTGTACACTTTGGTTGCTATCAGAGTGAACATAGCATGATGACAATTCCTACTCAAACTTTTTAAATGGCTCCCCCATTTAAGAAGTATGTAATGTATAGTATATGTATATGGCAGCAATATGTAAATATATACCATTTTGCATTTTACATAGGATTAATTATTCTCTGGCTCCCACTCACCTATCCAAAATCAAGTGTTCTTTCTGCTCACTTCATATCAAACCCCATGTCT... | pathogenic | 109,685 |
Is the variant located on chromosome 6 at position 64436259, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinitis_pigmentosa_25'] | TCAAAAGAAATCAAACCTGTTGTCATTTTGATCTCAGAATTGTGAGACTAAATTGCAATTGTGAGATTAAATTGCCTGTAGAATAGTGAGAAAATTAATTTCTGTTGTTTGAGCCACCTTGTCTGCCACTTTGTTATGGCAGCCCAGCATCCTAGTAAAATAGGCATTATAAGTTTTACGATGATTAGATGTAGTTATGTGTGTGTAAAGCATATGGTACATGTTAATTGTTTAGTGTGTGTTAATTAATATTGTTGTTTCTTCTGCTAGTATTTTTACTGGACACATCATTTATAACTCTTATCTTTACCTGATCTTGA... | TCAAAAGAAATCAAACCTGTTGTCATTTTGATCTCAGAATTGTGAGACTAAATTGCAATTGTGAGATTAAATTGCCTGTAGAATAGTGAGAAAATTAATTTCTGTTGTTTGAGCCACCTTGTCTGCCACTTTGTTATGGCAGCCCAGCATCCTAGTAAAATAGGCATTATAAGTTTTACGATGATTAGATGTAGTTATGTGTGTGTAAAGCATATGGTACATGTTAATTGTTTAGTGTGTGTTAATTAATATTGTTGTTTCTTCTGCTAGTATTTTTACTGGACACATCATTTATAACTCTTATCTTTACCTGATCTTGA... | pathogenic | 109,690 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 64439162, gene EYS (eyes shut homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | TTGCAAAAGACTCCTTTCCTTTATAAGATTATTTATTGTCAGTTGACTTTAAAAACTCCAATAAGAAGCATTAGGAGGAATTATTGGAGACTTGTAGGATTGTAGGTGAAAATATTTTATGAAATAATGTATTATTAAGACTAATGGATAGCCACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATT... | TTGCAAAAGACTCCTTTCCTTTATAAGATTATTTATTGTCAGTTGACTTTAAAAACTCCAATAAGAAGCATTAGGAGGAATTATTGGAGACTTGTAGGATTGTAGGTGAAAATATTTTATGAAATAATGTATTATTAAGACTAATGGATAGCCACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATT... | pathogenic | 109,693 |
Regarding the variant at chromosome 6 and position 64439194, affecting gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TTATTGTCAGTTGACTTTAAAAACTCCAATAAGAAGCATTAGGAGGAATTATTGGAGACTTGTAGGATTGTAGGTGAAAATATTTTATGAAATAATGTATTATTAAGACTAATGGATAGCCACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATC... | TTATTGTCAGTTGACTTTAAAAACTCCAATAAGAAGCATTAGGAGGAATTATTGGAGACTTGTAGGATTGTAGGTGAAAATATTTTATGAAATAATGTATTATTAAGACTAATGGATAGCCACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATC... | pathogenic | 109,694 |
A genetic alteration at chromosome 6, position 64439210, in gene EYS (eyes shut homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_25'] | TTAAAAACTCCAATAAGAAGCATTAGGAGGAATTATTGGAGACTTGTAGGATTGTAGGTGAAAATATTTTATGAAATAATGTATTATTAAGACTAATGGATAGCCACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATCTTAAGAAAATTTAAGA... | TTAAAAACTCCAATAAGAAGCATTAGGAGGAATTATTGGAGACTTGTAGGATTGTAGGTGAAAATATTTTATGAAATAATGTATTATTAAGACTAATGGATAGCCACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATCTTAAGAAAATTTAAGA... | pathogenic | 109,695 |
A mutation at chromosome position 64439315 on chromosome 6 in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinitis_pigmentosa_25'] | ACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATCTTAAGAAAATTTAAGATCATTTACATTTCAGCTAGATGATCAGAGTTCAAAACTCAGCTCTGTTACTTGGAAGTTTTGAGACTTCACATGTGCTTTGTGCTAAAATCTACTCACTTGTAAA... | ACTACTTTCCCTATCAAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATCTTAAGAAAATTTAAGATCATTTACATTTCAGCTAGATGATCAGAGTTCAAAACTCAGCTCTGTTACTTGGAAGTTTTGAGACTTCACATGTGCTTTGTGCTAAAATCTACTCACTTGTAAA... | pathogenic | 109,699 |
Classify the chromosome 6 variant at position 64439330 affecting gene EYS (eyes shut homolog) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | AAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATCTTAAGAAAATTTAAGATCATTTACATTTCAGCTAGATGATCAGAGTTCAAAACTCAGCTCTGTTACTTGGAAGTTTTGAGACTTCACATGTGCTTTGTGCTAAAATCTACTCACTTGTAAAATGGGGTAATACAAA... | AAATGGGAAAAAAATTAATTCACAATAGGTTAAACGAAGATATTTAGGAACCATAAAACTAACTAGTGAATAGAGGTATAGAATTTCTTTCCCTTTGGTTTTATGAAAAAGAAAGGATATATACTTACAAGTCTACAATAATTACTATTATTTACTTAATTGTAATAATTTGTCAATCTCCATCTTAAGAAAATTTAAGATCATTTACATTTCAGCTAGATGATCAGAGTTCAAAACTCAGCTCTGTTACTTGGAAGTTTTGAGACTTCACATGTGCTTTGTGCTAAAATCTACTCACTTGTAAAATGGGGTAATACAAA... | pathogenic | 109,700 |
Is the variant located on chromosome 6 at position 64590332, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinitis_pigmentosa_25'] | AAGCTGGAAATTGACAAATGTAGGACTCTAATACATCAACATTTGCTCTTCCCGATCTTCTTTCCACCCTTGTTTATTCTACCCTCTAAACACTAGAGATCAATTCAAAGGACTGGCTTTAGCCTCCAGCTACTGAACAGCTTTGGTTAATAAGAAGCACCTGCAGAAGACTAGAAGACAACAGGAAAGGGGTTGTCTAGTATTTTCTAGTCTCCTCCCTGTCTGTTCTTATTGGATTACCTGTGTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTG... | AAGCTGGAAATTGACAAATGTAGGACTCTAATACATCAACATTTGCTCTTCCCGATCTTCTTTCCACCCTTGTTTATTCTACCCTCTAAACACTAGAGATCAATTCAAAGGACTGGCTTTAGCCTCCAGCTACTGAACAGCTTTGGTTAATAAGAAGCACCTGCAGAAGACTAGAAGACAACAGGAAAGGGGTTGTCTAGTATTTTCTAGTCTCCTCCCTGTCTGTTCTTATTGGATTACCTGTGTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTG... | pathogenic | 109,706 |
The genetic variant at chromosome 6, position 64590379, affecting gene EYS (eyes shut homolog): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | CTTCCCGATCTTCTTTCCACCCTTGTTTATTCTACCCTCTAAACACTAGAGATCAATTCAAAGGACTGGCTTTAGCCTCCAGCTACTGAACAGCTTTGGTTAATAAGAAGCACCTGCAGAAGACTAGAAGACAACAGGAAAGGGGTTGTCTAGTATTTTCTAGTCTCCTCCCTGTCTGTTCTTATTGGATTACCTGTGTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAA... | CTTCCCGATCTTCTTTCCACCCTTGTTTATTCTACCCTCTAAACACTAGAGATCAATTCAAAGGACTGGCTTTAGCCTCCAGCTACTGAACAGCTTTGGTTAATAAGAAGCACCTGCAGAAGACTAGAAGACAACAGGAAAGGGGTTGTCTAGTATTTTCTAGTCTCCTCCCTGTCTGTTCTTATTGGATTACCTGTGTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAA... | pathogenic | 109,709 |
Chromosome 6, position 64590525, gene EYS (eyes shut homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TGTCTAGTATTTTCTAGTCTCCTCCCTGTCTGTTCTTATTGGATTACCTGTGTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCA... | TGTCTAGTATTTTCTAGTCTCCTCCCTGTCTGTTCTTATTGGATTACCTGTGTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCA... | pathogenic | 109,713 |
Variant at chromosome position 64590576, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCAACAAATGCCTTGCAAATGATTTATTATAATGACTAAATGACTAGAAAGGCA... | GTCCTACTTCCAAAGGCCACACCTTCTGTAACCTAGAAGCTTTCCATTTTAGGTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCAACAAATGCCTTGCAAATGATTTATTATAATGACTAAATGACTAGAAAGGCA... | pathogenic | 109,714 |
Regarding the variant at chromosome 6 and position 64590628, affecting gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa_25'] | GTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCAACAAATGCCTTGCAAATGATTTATTATAATGACTAAATGACTAGAAAGGCAAGAAAAACTGGAAGGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATA... | GTTCTGGTCCTTCTCTTACCTCTGTCTCTTTAGGCCCAATGCTGGTTTTGCTGTTATTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCAACAAATGCCTTGCAAATGATTTATTATAATGACTAAATGACTAGAAAGGCAAGAAAAACTGGAAGGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATA... | pathogenic | 109,717 |
Determine if the mutation at chromosome 6, position 64590684 in gene EYS (eyes shut homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_25'] | TTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCAACAAATGCCTTGCAAATGATTTATTATAATGACTAAATGACTAGAAAGGCAAGAAAAACTGGAAGGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATAGTTGCAATGGGAATGAAGAATGGGAAAAGTGAAAAGCAGCAAGATTATGTTTAAAA... | TTGGTCTCTTGAGAACTGTAAGGTCCTTAGTTTTCCTTAAACTCTACCCATATTTTAATAAGTAATTACCATATTAAACTCTCCCCAAATACCCAGTTAGACTGTTTATTCGCTGATGTGACTCTGATCAACACAGTGGATGAACATATTGGAAAATGTCAACAAATGCCTTGCAAATGATTTATTATAATGACTAAATGACTAGAAAGGCAAGAAAAACTGGAAGGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATAGTTGCAATGGGAATGAAGAATGGGAAAAGTGAAAAGCAGCAAGATTATGTTTAAAA... | pathogenic | 109,718 |
Does the chromosome 6 mutation at position 64590869 within gene EYS (eyes shut homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_25'] | TATAATGACTAAATGACTAGAAAGGCAAGAAAAACTGGAAGGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATAGTTGCAATGGGAATGAAGAATGGGAAAAGTGAAAAGCAGCAAGATTATGTTTAAAAAGACCAAATTTTAGGTTTTATTTACTAATAATGAAGAATTTGTGCCCTGATTATTTCCAAGAGGTGGCTATGGGATGAATTGTTTGAGAGACGTTTTAACTCTGCTACATTTACCAAGAACCTTATATGTGAGAAATGATGTATTAGGCATTGTATGTGAGTTATAACAGATAAACCACAAGCTA... | TATAATGACTAAATGACTAGAAAGGCAAGAAAAACTGGAAGGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATAGTTGCAATGGGAATGAAGAATGGGAAAAGTGAAAAGCAGCAAGATTATGTTTAAAAAGACCAAATTTTAGGTTTTATTTACTAATAATGAAGAATTTGTGCCCTGATTATTTCCAAGAGGTGGCTATGGGATGAATTGTTTGAGAGACGTTTTAACTCTGCTACATTTACCAAGAACCTTATATGTGAGAAATGATGTATTAGGCATTGTATGTGAGTTATAACAGATAAACCACAAGCTA... | pathogenic | 109,723 |
Is the variant located on chromosome 6 at position 64590909, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATAGTTGCAATGGGAATGAAGAATGGGAAAAGTGAAAAGCAGCAAGATTATGTTTAAAAAGACCAAATTTTAGGTTTTATTTACTAATAATGAAGAATTTGTGCCCTGATTATTTCCAAGAGGTGGCTATGGGATGAATTGTTTGAGAGACGTTTTAACTCTGCTACATTTACCAAGAACCTTATATGTGAGAAATGATGTATTAGGCATTGTATGTGAGTTATAACAGATAAACCACAAGCTATCAGCCTGTAAAAGTACAAGGACAATACCACATTTAAATT... | GGAGATTAGGAGATGTAGGTGAGGTCAAAATAAAGAATAGTTGCAATGGGAATGAAGAATGGGAAAAGTGAAAAGCAGCAAGATTATGTTTAAAAAGACCAAATTTTAGGTTTTATTTACTAATAATGAAGAATTTGTGCCCTGATTATTTCCAAGAGGTGGCTATGGGATGAATTGTTTGAGAGACGTTTTAACTCTGCTACATTTACCAAGAACCTTATATGTGAGAAATGATGTATTAGGCATTGTATGTGAGTTATAACAGATAAACCACAAGCTATCAGCCTGTAAAAGTACAAGGACAATACCACATTTAAATT... | pathogenic | 109,725 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 64591034, gene EYS (eyes shut homolog): what disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ATGAAGAATTTGTGCCCTGATTATTTCCAAGAGGTGGCTATGGGATGAATTGTTTGAGAGACGTTTTAACTCTGCTACATTTACCAAGAACCTTATATGTGAGAAATGATGTATTAGGCATTGTATGTGAGTTATAACAGATAAACCACAAGCTATCAGCCTGTAAAAGTACAAGGACAATACCACATTTAAATTTGTAATTAATTTTATCATGGTTTTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACAC... | ATGAAGAATTTGTGCCCTGATTATTTCCAAGAGGTGGCTATGGGATGAATTGTTTGAGAGACGTTTTAACTCTGCTACATTTACCAAGAACCTTATATGTGAGAAATGATGTATTAGGCATTGTATGTGAGTTATAACAGATAAACCACAAGCTATCAGCCTGTAAAAGTACAAGGACAATACCACATTTAAATTTGTAATTAATTTTATCATGGTTTTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACAC... | pathogenic | 109,728 |
Considering the genetic mutation at chromosome 6, position 64591200, impacting EYS (eyes shut homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | AAGTACAAGGACAATACCACATTTAAATTTGTAATTAATTTTATCATGGTTTTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAA... | AAGTACAAGGACAATACCACATTTAAATTTGTAATTAATTTTATCATGGTTTTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAA... | pathogenic | 109,731 |
Does the variant on chromosome 6 at location 64591250 affecting gene EYS (eyes shut homolog) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TTTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACA... | TTTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACA... | pathogenic | 109,734 |
For chromosome 6, position 64591251, gene EYS (eyes shut homolog): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinitis_pigmentosa'] | TTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACAT... | TTAAGAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACAT... | pathogenic | 109,735 |
Chromosome 6, position 64591255, gene EYS (eyes shut homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_25'] | GAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTT... | GAAATTTTGTAGACAAAATTATATCATATTGAATATATGATATACCAAATAGAATGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTT... | pathogenic | 109,736 |
Chromosome 6, position 64591309, gene EYS (eyes shut homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAA... | TGACTTGTTCTTTCATGTTACTGAATTTTCAGCCATAAATTACACACCTAAAACCTTTTAAACGTTGGGGTAATATATGAAGCAAAAACACACAACCATACATACACAGACACAAACCACTATAAGTTTATTGTCAAAGGAAAATTAATTTCACTGCCACAAAGTAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAA... | pathogenic | 109,738 |
Mutation found at chromosome 6 position 64591473, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTT... | TAACACTTGAAAATTCCACAAGATAGAATTTCTTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTT... | pathogenic | 109,745 |
Gene mutation in EYS (eyes shut homolog) at chromosome 6, position 64591505—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Retinitis_pigmentosa_25', 'Retinitis_punctata_albescens'] | TTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAG... | TTAAAATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAG... | pathogenic | 109,746 |
For chromosome 6, position 64591510, gene EYS (eyes shut homolog): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAG... | ATAATGAAAAATCTTATCTTTCTGGTAAACACAATTCTTTAACCTTTTTCCTTTTTTACATCCTTACCAATTTGATAGCAATTACAAGGGGAGAATAGTGATTTAAAATACGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAG... | pathogenic | 109,747 |
Is the variant located on chromosome 6 at position 64591620, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinitis_pigmentosa_25'] | CGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGA... | CGCTTTAAAGTAAGAACTGTTATATGAGAAAACTGGCTTGTCATTAATATATCAAGGCTCTGAATTCAAATTCACAGATATTATCTCCTTCAATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGA... | pathogenic | 109,751 |
Is the genetic variant on chromosome 6, position 64591711, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa_25'] | AATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCT... | AATTTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCT... | pathogenic | 109,754 |
A genetic alteration at chromosome 6, position 64591714, in gene EYS (eyes shut homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_25'] | TTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGA... | TTTTGCATAGTGCTTTTGTTAAATAAAATACTTGAAATTAACTTATATTCTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGA... | pathogenic | 109,755 |
Variant at chromosome 6, position 64591763, gene EYS (eyes shut homolog): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Retinitis_pigmentosa_25'] | CTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTT... | CTGAATTATATAAAATGAAACAAAAAACTTTAAATTTAAAAATGATATACCATGCCATAGAGGATAGGAAATCTCAAGAAAGTTCCAGTGATTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTT... | pathogenic | 109,757 |
The mutation impacting EYS (eyes shut homolog) on chromosome 6 at position 64591854: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTTTGTGGCAGTGCATAAAGAATAACCATCTGTGTCAGGTACAACAGCAGGTGCCTTCTCAATTGAACTGGCTGCTGCCCTGATTACAATGAGG... | TTTCCTCTTTCCCATATTAAAAAAAATGCTACCACTGAAGATACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTTTGTGGCAGTGCATAAAGAATAACCATCTGTGTCAGGTACAACAGCAGGTGCCTTCTCAATTGAACTGGCTGCTGCCCTGATTACAATGAGG... | pathogenic | 109,762 |
Regarding the variant found on chromosome 6 at position 64591896 in gene EYS (eyes shut homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | ACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTTTGTGGCAGTGCATAAAGAATAACCATCTGTGTCAGGTACAACAGCAGGTGCCTTCTCAATTGAACTGGCTGCTGCCCTGATTACAATGAGGCTGTTCAGAGCACCCGGTGACCATGACAGGCTCTTTCTTCTC... | ACCGTTAGAAAGAGTATGTTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTTTGTGGCAGTGCATAAAGAATAACCATCTGTGTCAGGTACAACAGCAGGTGCCTTCTCAATTGAACTGGCTGCTGCCCTGATTACAATGAGGCTGTTCAGAGCACCCGGTGACCATGACAGGCTCTTTCTTCTC... | pathogenic | 109,764 |
Variant at chromosome position 64591914, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | TTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTTTGTGGCAGTGCATAAAGAATAACCATCTGTGTCAGGTACAACAGCAGGTGCCTTCTCAATTGAACTGGCTGCTGCCCTGATTACAATGAGGCTGTTCAGAGCACCCGGTGACCATGACAGGCTCTTTCTTCTCTGTAGAAAAGAAACTCAT... | TTATATTGTGTTCAACCTGACAAAGAAGCTATTTCAAGAAATGAGAATAATAAAAGTTATTTCTAAACTTTGAGAGATCTGTCATAATGAATTGAACTAGTTCAGTTTCTGATTGCTTGACAGCAGTATAGCTGTCTCCAACCTACTACTGTATTGATCTGGTAGCCTTTGTGGCAGTGCATAAAGAATAACCATCTGTGTCAGGTACAACAGCAGGTGCCTTCTCAATTGAACTGGCTGCTGCCCTGATTACAATGAGGCTGTTCAGAGCACCCGGTGACCATGACAGGCTCTTTCTTCTCTGTAGAAAAGAAACTCAT... | pathogenic | 109,765 |
Evaluate if the mutation on chromosome 6 at position 64593094 in EYS (eyes shut homolog) is benign or pathogenic. Disease name(s) if pathogenic? | benign | AGAAGTGATAGTTTGAGCTCCCATTAGTGCATACCAGCTGGCTAATATCGCTGAGTTCATCCAGAATGTCTCATAAAAGTGGGACTGTTTGCTATGCAAAACTTGATCTGAGAATTCACGAGAGGATTTTATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATA... | AGAAGTGATAGTTTGAGCTCCCATTAGTGCATACCAGCTGGCTAATATCGCTGAGTTCATCCAGAATGTCTCATAAAAGTGGGACTGTTTGCTATGCAAAACTTGATCTGAGAATTCACGAGAGGATTTTATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATA... | benign | 109,770 |
A mutation at chromosome position 64593131 on chromosome 6 in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinitis_pigmentosa_25'] | CTGGCTAATATCGCTGAGTTCATCCAGAATGTCTCATAAAAGTGGGACTGTTTGCTATGCAAAACTTGATCTGAGAATTCACGAGAGGATTTTATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGG... | CTGGCTAATATCGCTGAGTTCATCCAGAATGTCTCATAAAAGTGGGACTGTTTGCTATGCAAAACTTGATCTGAGAATTCACGAGAGGATTTTATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGG... | pathogenic | 109,772 |
Variant chromosome 6, position 64593204, gene EYS (eyes shut homolog): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa_25'] | AGAATTCACGAGAGGATTTTATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGGGCTGAGCAATCTCCAGTGCTCTCTTCTTGAAATTAAAGAATCAGCTGAATATTCTTCAATATCCTCTTGAGCC... | AGAATTCACGAGAGGATTTTATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGGGCTGAGCAATCTCCAGTGCTCTCTTCTTGAAATTAAAGAATCAGCTGAATATTCTTCAATATCCTCTTGAGCC... | pathogenic | 109,773 |
Does the chromosome 6 mutation at position 64593224 within gene EYS (eyes shut homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Retinitis_pigmentosa_25'] | ATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGGGCTGAGCAATCTCCAGTGCTCTCTTCTTGAAATTAAAGAATCAGCTGAATATTCTTCAATATCCTCTTGAGCCCCCCTAGAGACAACTGGAGT... | ATTTCAGTCATAGAACATGTTGCACATGTTTGGCTTAATTCTCTTAAAGAATCAGCAGCCTGTGATTTGATGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGGGCTGAGCAATCTCCAGTGCTCTCTTCTTGAAATTAAAGAATCAGCTGAATATTCTTCAATATCCTCTTGAGCCCCCCTAGAGACAACTGGAGT... | pathogenic | 109,777 |
Considering the genetic mutation at chromosome 6, position 64593294, impacting EYS (eyes shut homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | TGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGGGCTGAGCAATCTCCAGTGCTCTCTTCTTGAAATTAAAGAATCAGCTGAATATTCTTCAATATCCTCTTGAGCCCCCCTAGAGACAACTGGAGTTGCACTTATGGAGGCAGCTATAAGCAGGAATCCACGGGAGAGTAATGACTGCCTGTTTAGCTCAATATCA... | TGTTTGTGAGTCTCTGGTTGCTTGAAGCCTCAGTAATAGCCTGATATTCACTGGGATTGAAGGCTTTTGTACTGAACCGGTGCAGAGCTGATGAGTTTAAGATGGTTACCTGTTTAGATATAATTACCTTAGCAGGAAAAATGGGAGACATCGAGGGGCTGAGCAATCTCCAGTGCTCTCTTCTTGAAATTAAAGAATCAGCTGAATATTCTTCAATATCCTCTTGAGCCCCCCTAGAGACAACTGGAGTTGCACTTATGGAGGCAGCTATAAGCAGGAATCCACGGGAGAGTAATGACTGCCTGTTTAGCTCAATATCA... | pathogenic | 109,778 |
Is chromosome 6, position 64617482, gene EYS (eyes shut homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa_25'] | ACGTGCTACAAATATTTTATCAAATATTTTGAATATTTGATTTTCTGATAATTCAGCAGATTATTTTATTTTCTGTTCCAATTAATAATTTGCGTGTTATTTTCAAAAGTATATTTCTTAGGAATATCTAATTTAGAGTAAATACATACTGCTATAGCATTGGCATGAATAACATTTCAATGTTAAAATTCTTTTTCAATAAACTGAATTTCCCCTATCTTTAGCTACTCATTTTAAAGAATAACTAATGCATTAGCAAAAGTTGAATCTCCCTTATCTCATTGTAGCATTTCACACAAACATTATCTCTTGCTATGACA... | ACGTGCTACAAATATTTTATCAAATATTTTGAATATTTGATTTTCTGATAATTCAGCAGATTATTTTATTTTCTGTTCCAATTAATAATTTGCGTGTTATTTTCAAAAGTATATTTCTTAGGAATATCTAATTTAGAGTAAATACATACTGCTATAGCATTGGCATGAATAACATTTCAATGTTAAAATTCTTTTTCAATAAACTGAATTTCCCCTATCTTTAGCTACTCATTTTAAAGAATAACTAATGCATTAGCAAAAGTTGAATCTCCCTTATCTCATTGTAGCATTTCACACAAACATTATCTCTTGCTATGACA... | pathogenic | 109,779 |
Variant chromosome 6, position 64617519, gene EYS (eyes shut homolog): benign or pathogenic? Disease(s)? | pathogenic; ['Retinal_dystrophy'] | TGATTTTCTGATAATTCAGCAGATTATTTTATTTTCTGTTCCAATTAATAATTTGCGTGTTATTTTCAAAAGTATATTTCTTAGGAATATCTAATTTAGAGTAAATACATACTGCTATAGCATTGGCATGAATAACATTTCAATGTTAAAATTCTTTTTCAATAAACTGAATTTCCCCTATCTTTAGCTACTCATTTTAAAGAATAACTAATGCATTAGCAAAAGTTGAATCTCCCTTATCTCATTGTAGCATTTCACACAAACATTATCTCTTGCTATGACAAGTTTTTAAATTTTGTTTCAGCTTTCAAGTACTTAGA... | TGATTTTCTGATAATTCAGCAGATTATTTTATTTTCTGTTCCAATTAATAATTTGCGTGTTATTTTCAAAAGTATATTTCTTAGGAATATCTAATTTAGAGTAAATACATACTGCTATAGCATTGGCATGAATAACATTTCAATGTTAAAATTCTTTTTCAATAAACTGAATTTCCCCTATCTTTAGCTACTCATTTTAAAGAATAACTAATGCATTAGCAAAAGTTGAATCTCCCTTATCTCATTGTAGCATTTCACACAAACATTATCTCTTGCTATGACAAGTTTTTAAATTTTGTTTCAGCTTTCAAGTACTTAGA... | pathogenic | 109,780 |
Is chromosome 6, position 64626121, gene EYS (eyes shut homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa_25'] | TGTGAAGAGTGTAAGTAACTCTAAAGTCAAAGGTATCAGCAGATTTTGAATAACGCCTAGCAATACAGGTGGTATCATTTTGAGATCTTCTGCTTCCCAATAGTGATCTGAAAAGCAGCCTGAACAATTCAACAGCTTAAAAATGTCCTCATGCTTACAAGTGAATCCAGAGTAGTGGAATCAACCTACAGCAACAAAACTAATCTAGCACCTGTAAGATGTTTATTAACATGAAACAGAAAATGAATCTAGTAGTTACAAGATACCTATTGTTATGATAAACAAAATTTATATGGGTATTTTACTTAACTGTTTCTGTA... | TGTGAAGAGTGTAAGTAACTCTAAAGTCAAAGGTATCAGCAGATTTTGAATAACGCCTAGCAATACAGGTGGTATCATTTTGAGATCTTCTGCTTCCCAATAGTGATCTGAAAAGCAGCCTGAACAATTCAACAGCTTAAAAATGTCCTCATGCTTACAAGTGAATCCAGAGTAGTGGAATCAACCTACAGCAACAAAACTAATCTAGCACCTGTAAGATGTTTATTAACATGAAACAGAAAATGAATCTAGTAGTTACAAGATACCTATTGTTATGATAAACAAAATTTATATGGGTATTTTACTTAACTGTTTCTGTA... | pathogenic | 109,785 |
Considering the genetic mutation at chromosome 6, position 64626210, impacting EYS (eyes shut homolog): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Retinitis_pigmentosa_25'] | CTGCTTCCCAATAGTGATCTGAAAAGCAGCCTGAACAATTCAACAGCTTAAAAATGTCCTCATGCTTACAAGTGAATCCAGAGTAGTGGAATCAACCTACAGCAACAAAACTAATCTAGCACCTGTAAGATGTTTATTAACATGAAACAGAAAATGAATCTAGTAGTTACAAGATACCTATTGTTATGATAAACAAAATTTATATGGGTATTTTACTTAACTGTTTCTGTAGAATTTATTGTTTATGCTAGCTACCATAGAGTATGAAGTGTTTGTGGGCACAATAAAGATATTTTTTGCTTGAAAGAGGCAAAATGTTT... | CTGCTTCCCAATAGTGATCTGAAAAGCAGCCTGAACAATTCAACAGCTTAAAAATGTCCTCATGCTTACAAGTGAATCCAGAGTAGTGGAATCAACCTACAGCAACAAAACTAATCTAGCACCTGTAAGATGTTTATTAACATGAAACAGAAAATGAATCTAGTAGTTACAAGATACCTATTGTTATGATAAACAAAATTTATATGGGTATTTTACTTAACTGTTTCTGTAGAATTTATTGTTTATGCTAGCTACCATAGAGTATGAAGTGTTTGTGGGCACAATAAAGATATTTTTTGCTTGAAAGAGGCAAAATGTTT... | pathogenic | 109,789 |
A mutation at chromosome position 64626259 on chromosome 6 in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | AAAAATGTCCTCATGCTTACAAGTGAATCCAGAGTAGTGGAATCAACCTACAGCAACAAAACTAATCTAGCACCTGTAAGATGTTTATTAACATGAAACAGAAAATGAATCTAGTAGTTACAAGATACCTATTGTTATGATAAACAAAATTTATATGGGTATTTTACTTAACTGTTTCTGTAGAATTTATTGTTTATGCTAGCTACCATAGAGTATGAAGTGTTTGTGGGCACAATAAAGATATTTTTTGCTTGAAAGAGGCAAAATGTTTGAAATGGTATTCATTTCTTATATAAGAAAACTGTAATTTTATTCTACTT... | AAAAATGTCCTCATGCTTACAAGTGAATCCAGAGTAGTGGAATCAACCTACAGCAACAAAACTAATCTAGCACCTGTAAGATGTTTATTAACATGAAACAGAAAATGAATCTAGTAGTTACAAGATACCTATTGTTATGATAAACAAAATTTATATGGGTATTTTACTTAACTGTTTCTGTAGAATTTATTGTTTATGCTAGCTACCATAGAGTATGAAGTGTTTGTGGGCACAATAAAGATATTTTTTGCTTGAAAGAGGCAAAATGTTTGAAATGGTATTCATTTCTTATATAAGAAAACTGTAATTTTATTCTACTT... | benign | 109,791 |
Variant at chromosome position 64813471, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | AAAAAAAAAAAAATCAGCCAAGCTAGCCTGTGGATAACTTTTCCCTAAAAGGAATATTTATACAGGAGCTTGCTATGGTTTAGGTGTCCATACCAAAACTCATGTTGGAACCTTAGTGCAGCAATGTTGGGAGGTGGTGCCTGTACACAGTGAATAGACCTTTAAAATAGATTAAAGTCTTTCTCATGAGACGGGATTTGTTCTCTCGAGAAAAGATTAGTTCTGGGTACAGTGGTTGTCAGAAAGCAAGCTTGCCTCTCCTGTCTGGTCCTTCTTGCATTCCAGCTTCCACATTCACATCTCTGCCATCCTATGGTGCA... | AAAAAAAAAAAAATCAGCCAAGCTAGCCTGTGGATAACTTTTCCCTAAAAGGAATATTTATACAGGAGCTTGCTATGGTTTAGGTGTCCATACCAAAACTCATGTTGGAACCTTAGTGCAGCAATGTTGGGAGGTGGTGCCTGTACACAGTGAATAGACCTTTAAAATAGATTAAAGTCTTTCTCATGAGACGGGATTTGTTCTCTCGAGAAAAGATTAGTTCTGGGTACAGTGGTTGTCAGAAAGCAAGCTTGCCTCTCCTGTCTGGTCCTTCTTGCATTCCAGCTTCCACATTCACATCTCTGCCATCCTATGGTGCA... | pathogenic | 109,796 |
The mutation in gene EYS (eyes shut homolog) at chromosome 6, position 64813471—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinal_dystrophy'] | AAAAAAAAAAAAATCAGCCAAGCTAGCCTGTGGATAACTTTTCCCTAAAAGGAATATTTATACAGGAGCTTGCTATGGTTTAGGTGTCCATACCAAAACTCATGTTGGAACCTTAGTGCAGCAATGTTGGGAGGTGGTGCCTGTACACAGTGAATAGACCTTTAAAATAGATTAAAGTCTTTCTCATGAGACGGGATTTGTTCTCTCGAGAAAAGATTAGTTCTGGGTACAGTGGTTGTCAGAAAGCAAGCTTGCCTCTCCTGTCTGGTCCTTCTTGCATTCCAGCTTCCACATTCACATCTCTGCCATCCTATGGTGCA... | AAAAAAAAAAAAATCAGCCAAGCTAGCCTGTGGATAACTTTTCCCTAAAAGGAATATTTATACAGGAGCTTGCTATGGTTTAGGTGTCCATACCAAAACTCATGTTGGAACCTTAGTGCAGCAATGTTGGGAGGTGGTGCCTGTACACAGTGAATAGACCTTTAAAATAGATTAAAGTCTTTCTCATGAGACGGGATTTGTTCTCTCGAGAAAAGATTAGTTCTGGGTACAGTGGTTGTCAGAAAGCAAGCTTGCCTCTCCTGTCTGGTCCTTCTTGCATTCCAGCTTCCACATTCACATCTCTGCCATCCTATGGTGCA... | pathogenic | 109,797 |
The chromosome 6, position 64813554 genetic variant in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | GTGTCCATACCAAAACTCATGTTGGAACCTTAGTGCAGCAATGTTGGGAGGTGGTGCCTGTACACAGTGAATAGACCTTTAAAATAGATTAAAGTCTTTCTCATGAGACGGGATTTGTTCTCTCGAGAAAAGATTAGTTCTGGGTACAGTGGTTGTCAGAAAGCAAGCTTGCCTCTCCTGTCTGGTCCTTCTTGCATTCCAGCTTCCACATTCACATCTCTGCCATCCTATGGTGCAGCATGAAACCCTCATCAGAAGCCAAACAGATGCCTATGCCATGCTCTTGGGCTTTTCAGCCACTTGAAGCATAAGCCAAATAA... | GTGTCCATACCAAAACTCATGTTGGAACCTTAGTGCAGCAATGTTGGGAGGTGGTGCCTGTACACAGTGAATAGACCTTTAAAATAGATTAAAGTCTTTCTCATGAGACGGGATTTGTTCTCTCGAGAAAAGATTAGTTCTGGGTACAGTGGTTGTCAGAAAGCAAGCTTGCCTCTCCTGTCTGGTCCTTCTTGCATTCCAGCTTCCACATTCACATCTCTGCCATCCTATGGTGCAGCATGAAACCCTCATCAGAAGCCAAACAGATGCCTATGCCATGCTCTTGGGCTTTTCAGCCACTTGAAGCATAAGCCAAATAA... | pathogenic | 109,799 |
Located at chromosome 6 position 64821708, the variant affecting gene EYS (eyes shut homolog)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | ATATTTAAAATATTACAGTGGGAAGGATTTCTTTGGAGAGCAGCAAAGCCCAGTTAGGAAGAAAAAGGTAAAGAAAAATATGAAAATCTCACAATTCATAAGCTGTATAAAGTAAGAGTGTCCAGACTTTATAAAAGATTTGCATTTTTTCAGAACCTAGTAGATTTTATCTATAATTTAAAATAAGACATACAAATCAAAAAGTAAAGGGCAAGTAATCAAAAAGTAAAAGAACTATAAGTAGGCAAGGCACAAAGAACTACAAATGGCAAATAATAGCATGGAAAGGTGTTCAATCTTGATAGTAACCTAGGAAAATA... | ATATTTAAAATATTACAGTGGGAAGGATTTCTTTGGAGAGCAGCAAAGCCCAGTTAGGAAGAAAAAGGTAAAGAAAAATATGAAAATCTCACAATTCATAAGCTGTATAAAGTAAGAGTGTCCAGACTTTATAAAAGATTTGCATTTTTTCAGAACCTAGTAGATTTTATCTATAATTTAAAATAAGACATACAAATCAAAAAGTAAAGGGCAAGTAATCAAAAAGTAAAAGAACTATAAGTAGGCAAGGCACAAAGAACTACAAATGGCAAATAATAGCATGGAAAGGTGTTCAATCTTGATAGTAACCTAGGAAAATA... | pathogenic | 109,803 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 64822635, gene EYS (eyes shut homolog). What disease(s) is it linked to if pathogenic? | benign | TTTTAAAACTGTGTGTCAGAAAATGTGCTAATTGTTTTACATGCATTATCTCATTTAATTCTTGCAATAACCTGAGGTAGTTACTGTGATTATTTTTATTGAATAGTCAAAACATAATTTCAAAATAAATGTAAATTGAGAACACACAGTAGGTAAGTAGCAATATAGAGTTTCCATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGG... | TTTTAAAACTGTGTGTCAGAAAATGTGCTAATTGTTTTACATGCATTATCTCATTTAATTCTTGCAATAACCTGAGGTAGTTACTGTGATTATTTTTATTGAATAGTCAAAACATAATTTCAAAATAAATGTAAATTGAGAACACACAGTAGGTAAGTAGCAATATAGAGTTTCCATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGG... | benign | 109,805 |
Does the variant impacting EYS (eyes shut homolog) on chromosome 6, position 64822661, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinitis_pigmentosa_25'] | GCTAATTGTTTTACATGCATTATCTCATTTAATTCTTGCAATAACCTGAGGTAGTTACTGTGATTATTTTTATTGAATAGTCAAAACATAATTTCAAAATAAATGTAAATTGAGAACACACAGTAGGTAAGTAGCAATATAGAGTTTCCATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGGGAGAGAGACACAAAGAATGTAATAAA... | GCTAATTGTTTTACATGCATTATCTCATTTAATTCTTGCAATAACCTGAGGTAGTTACTGTGATTATTTTTATTGAATAGTCAAAACATAATTTCAAAATAAATGTAAATTGAGAACACACAGTAGGTAAGTAGCAATATAGAGTTTCCATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGGGAGAGAGACACAAAGAATGTAATAAA... | pathogenic | 109,807 |
Chromosome 6, position 64822668, gene EYS (eyes shut homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | GTTTTACATGCATTATCTCATTTAATTCTTGCAATAACCTGAGGTAGTTACTGTGATTATTTTTATTGAATAGTCAAAACATAATTTCAAAATAAATGTAAATTGAGAACACACAGTAGGTAAGTAGCAATATAGAGTTTCCATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGGGAGAGAGACACAAAGAATGTAATAAAATACCCA... | GTTTTACATGCATTATCTCATTTAATTCTTGCAATAACCTGAGGTAGTTACTGTGATTATTTTTATTGAATAGTCAAAACATAATTTCAAAATAAATGTAAATTGAGAACACACAGTAGGTAAGTAGCAATATAGAGTTTCCATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGGGAGAGAGACACAAAGAATGTAATAAAATACCCA... | pathogenic | 109,808 |
A genetic alteration at chromosome 6, position 64822810, in gene EYS (eyes shut homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_25'] | ATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGGGAGAGAGACACAAAGAATGTAATAAAATACCCATGGTTTCACAATGACAAAGGCTTTTAGTTTGTATGCTTCCTCCCTTTACCATGTTATTGTCAATCAAAAATGATTTGGAAGAACTCCCCAGTATTCCAAAAGGCTCACAAGATTCTCATCCACCAAGAACGGTCACAATTCT... | ATCTTGGTTCTCCGTGAATGCATTTAACTACTCCATCACCCCTCTCTGGAAGGGCCACTTACTGAATAGTTACTGTGTTTCATGTACATTCTCACACATGACCCTGTGATGTCAGAACTAGTATAGCTATGTTTTACTGACGAGGGAGAGAGACACAAAGAATGTAATAAAATACCCATGGTTTCACAATGACAAAGGCTTTTAGTTTGTATGCTTCCTCCCTTTACCATGTTATTGTCAATCAAAAATGATTTGGAAGAACTCCCCAGTATTCCAAAAGGCTCACAAGATTCTCATCCACCAAGAACGGTCACAATTCT... | pathogenic | 109,812 |
Mutation found at chromosome 6 position 64886707, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | AGAGAAGGTCAATTTGAATGTCAAAAGAGTATGTACAGAAAAACAAATACATGTAACTTTCTTGAGGGGGAAAACTTCTTTTTGAATGTCCAGTCATGTATCTTTCTTGGTTTGAAACCAAACTGTAACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTAGCACCACTCT... | AGAGAAGGTCAATTTGAATGTCAAAAGAGTATGTACAGAAAAACAAATACATGTAACTTTCTTGAGGGGGAAAACTTCTTTTTGAATGTCCAGTCATGTATCTTTCTTGGTTTGAAACCAAACTGTAACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTAGCACCACTCT... | pathogenic | 109,816 |
Does the genetic variant at chromosome 6, position 64886834, impacting gene EYS (eyes shut homolog), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | ACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTAGCACCACTCTTTTCCTTTGACTCAAGTGTAGAAATAATGACTTAAGTCATTGCAGTAGCAATTCTGAATGCATGAACCTATAATCATGAATTAAAAACTAAGAAAACCATTACCCCATCCTGGTACTGTCAAGTCAC... | ACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTAGCACCACTCTTTTCCTTTGACTCAAGTGTAGAAATAATGACTTAAGTCATTGCAGTAGCAATTCTGAATGCATGAACCTATAATCATGAATTAAAAACTAAGAAAACCATTACCCCATCCTGGTACTGTCAAGTCAC... | pathogenic | 109,819 |
Regarding the variant found on chromosome 6 at position 64886834 in gene EYS (eyes shut homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa'] | ACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTAGCACCACTCTTTTCCTTTGACTCAAGTGTAGAAATAATGACTTAAGTCATTGCAGTAGCAATTCTGAATGCATGAACCTATAATCATGAATTAAAAACTAAGAAAACCATTACCCCATCCTGGTACTGTCAAGTCAC... | ACACATATTTCATAATATTTTTTCTATATTCAACTGTAAATTCTGAAAGTGGTACACTTTTAATTTCTTATCTTCCACTGAACCTAAAAATGGACATGTGAGCAGTTTTGCTCAGTGACATATTAGCAGGTTTTGATTGTTATTCTAAAAAGGTTCTCCTTATAGAAAGACTCAATACAGTTAGCACCACTCTTTTCCTTTGACTCAAGTGTAGAAATAATGACTTAAGTCATTGCAGTAGCAATTCTGAATGCATGAACCTATAATCATGAATTAAAAACTAAGAAAACCATTACCCCATCCTGGTACTGTCAAGTCAC... | pathogenic | 109,820 |
Gene EYS (eyes shut homolog) variant at chromosome 6, position 64902131—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | TACAACCATCTGATCTTTGACAAAGCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATAGTGTTGGGAAAACTGGTTAGCCATATGCAGAACTCTGAAAATGGACCCCTTCCTTACACATTATACAAAAATTAACTCAAGATGGATTAAAGATTAAAACGTAAGATCTAAACTCATAAAAACTCTAGAAGAAAACCTAGGCAATATCATTCAGGACATAGGCAGGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGGCAAATGGGATCGAATTAAACTAAAGAG... | TACAACCATCTGATCTTTGACAAAGCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATAGTGTTGGGAAAACTGGTTAGCCATATGCAGAACTCTGAAAATGGACCCCTTCCTTACACATTATACAAAAATTAACTCAAGATGGATTAAAGATTAAAACGTAAGATCTAAACTCATAAAAACTCTAGAAGAAAACCTAGGCAATATCATTCAGGACATAGGCAGGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGGCAAATGGGATCGAATTAAACTAAAGAG... | pathogenic | 109,825 |
A genetic variant at chromosome 6, position 64902134, affecting gene EYS (eyes shut homolog)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinitis_pigmentosa_25'] | AACCATCTGATCTTTGACAAAGCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATAGTGTTGGGAAAACTGGTTAGCCATATGCAGAACTCTGAAAATGGACCCCTTCCTTACACATTATACAAAAATTAACTCAAGATGGATTAAAGATTAAAACGTAAGATCTAAACTCATAAAAACTCTAGAAGAAAACCTAGGCAATATCATTCAGGACATAGGCAGGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGGCAAATGGGATCGAATTAAACTAAAGAGCTT... | AACCATCTGATCTTTGACAAAGCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATAGTGTTGGGAAAACTGGTTAGCCATATGCAGAACTCTGAAAATGGACCCCTTCCTTACACATTATACAAAAATTAACTCAAGATGGATTAAAGATTAAAACGTAAGATCTAAACTCATAAAAACTCTAGAAGAAAACCTAGGCAATATCATTCAGGACATAGGCAGGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGGCAAATGGGATCGAATTAAACTAAAGAGCTT... | pathogenic | 109,826 |
Benign or pathogenic: chromosome 6, position 64902425, gene EYS (eyes shut homolog) variant? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | AAATGGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAGCAGGCAACCTGCAGAATGGGAGAAAATTTTGCAATATATCCATCTGGGAAATGGCTAATATACAGAATCCACAAGGAACTTAAACAAATTTACAAGAAAAAAACAAACAATCCCATCAAAAAGTGGGCAAAGGATATGAACACACACTTTTCAAAAGAAGACATTTATGCAGGCAACAAATATATGAAAAAAAGCTCATCATCACTGGTCATTAGAGAAATACAAATCAAAACCACAATGAGATGCCATCTCATGCCA... | AAATGGGATCGAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCATCAGAGTGAGCAGGCAACCTGCAGAATGGGAGAAAATTTTGCAATATATCCATCTGGGAAATGGCTAATATACAGAATCCACAAGGAACTTAAACAAATTTACAAGAAAAAAACAAACAATCCCATCAAAAAGTGGGCAAAGGATATGAACACACACTTTTCAAAAGAAGACATTTATGCAGGCAACAAATATATGAAAAAAAGCTCATCATCACTGGTCATTAGAGAAATACAAATCAAAACCACAATGAGATGCCATCTCATGCCA... | pathogenic | 109,833 |
A mutation at chromosome position 64902489 on chromosome 6 in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | GGCAACCTGCAGAATGGGAGAAAATTTTGCAATATATCCATCTGGGAAATGGCTAATATACAGAATCCACAAGGAACTTAAACAAATTTACAAGAAAAAAACAAACAATCCCATCAAAAAGTGGGCAAAGGATATGAACACACACTTTTCAAAAGAAGACATTTATGCAGGCAACAAATATATGAAAAAAAGCTCATCATCACTGGTCATTAGAGAAATACAAATCAAAACCACAATGAGATGCCATCTCATGCCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGATGCTAGAGAGATGCGGAGAAAATGT... | GGCAACCTGCAGAATGGGAGAAAATTTTGCAATATATCCATCTGGGAAATGGCTAATATACAGAATCCACAAGGAACTTAAACAAATTTACAAGAAAAAAACAAACAATCCCATCAAAAAGTGGGCAAAGGATATGAACACACACTTTTCAAAAGAAGACATTTATGCAGGCAACAAATATATGAAAAAAAGCTCATCATCACTGGTCATTAGAGAAATACAAATCAAAACCACAATGAGATGCCATCTCATGCCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGATGCTAGAGAGATGCGGAGAAAATGT... | pathogenic | 109,834 |
Variant in EYS (eyes shut homolog), chromosome 6, position 64912545—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Retinitis_pigmentosa_25'] | AAAAATGATGTGCATTTCAAGTATCTCTTTGTACTGAATCACAATCACAAAGGAATAAACACATAATTCACTGTGTTTACCTGCCACTCTAGCCAAAGCTCTGATTTGGCTTACGTACAATAATAAAATACTAAGGGGAAATAAGATTACATTTATTTAATAATAGTGAAATCTAAATTCTCCCCATGACATCTTTGTCAATGTTCAATGGGACAGCAGATATCATTACTAGTTCAATATATGACTAGAGGGTTTTAAAATGTTTCCAAACTTTCTTTCCCTAAACCCGTAGCAGGAAAGAAATATCACTATATTTTATA... | AAAAATGATGTGCATTTCAAGTATCTCTTTGTACTGAATCACAATCACAAAGGAATAAACACATAATTCACTGTGTTTACCTGCCACTCTAGCCAAAGCTCTGATTTGGCTTACGTACAATAATAAAATACTAAGGGGAAATAAGATTACATTTATTTAATAATAGTGAAATCTAAATTCTCCCCATGACATCTTTGTCAATGTTCAATGGGACAGCAGATATCATTACTAGTTCAATATATGACTAGAGGGTTTTAAAATGTTTCCAAACTTTCTTTCCCTAAACCCGTAGCAGGAAAGAAATATCACTATATTTTATA... | pathogenic | 109,839 |
Clinical classification of chromosome 6, position 64912638, gene EYS (eyes shut homolog): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | CAAAGCTCTGATTTGGCTTACGTACAATAATAAAATACTAAGGGGAAATAAGATTACATTTATTTAATAATAGTGAAATCTAAATTCTCCCCATGACATCTTTGTCAATGTTCAATGGGACAGCAGATATCATTACTAGTTCAATATATGACTAGAGGGTTTTAAAATGTTTCCAAACTTTCTTTCCCTAAACCCGTAGCAGGAAAGAAATATCACTATATTTTATAAATTTATTAAATGCACTTATAAATAGCAAAAGAATTTTTAAAATATTAAGGTTTGAAAACAATGCCCACTTTGCAGAAAATTATCTCTGGTGA... | CAAAGCTCTGATTTGGCTTACGTACAATAATAAAATACTAAGGGGAAATAAGATTACATTTATTTAATAATAGTGAAATCTAAATTCTCCCCATGACATCTTTGTCAATGTTCAATGGGACAGCAGATATCATTACTAGTTCAATATATGACTAGAGGGTTTTAAAATGTTTCCAAACTTTCTTTCCCTAAACCCGTAGCAGGAAAGAAATATCACTATATTTTATAAATTTATTAAATGCACTTATAAATAGCAAAAGAATTTTTAAAATATTAAGGTTTGAAAACAATGCCCACTTTGCAGAAAATTATCTCTGGTGA... | pathogenic | 109,845 |
Mutation found at chromosome 6 position 64945890, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | AAAAACTATACTAAAATGTACGTAGAGTGAAGAAAGAGATTGAATAACTAAAGCAATCTTAGAGAGGAAATAAAAAAAGATGGAGGCATCATGTTACCTGACTTCAAACTATACGTAAGTCTACAGTAACCAAAAACAGCATGGCAGCATTGCACTGGTAAAACAACAACAATAACAGACACACAGATCAGTGGAACAGAATAGCAAAACCAGAAATAAAGCAACATACTGACAGCCATTTAATATTTGATAAATCAACAAAAATAAGCAATAAGGGAAGGACCCCCTATTCAATAAATGGTGCTGGGAAAATTGGCTGT... | AAAAACTATACTAAAATGTACGTAGAGTGAAGAAAGAGATTGAATAACTAAAGCAATCTTAGAGAGGAAATAAAAAAAGATGGAGGCATCATGTTACCTGACTTCAAACTATACGTAAGTCTACAGTAACCAAAAACAGCATGGCAGCATTGCACTGGTAAAACAACAACAATAACAGACACACAGATCAGTGGAACAGAATAGCAAAACCAGAAATAAAGCAACATACTGACAGCCATTTAATATTTGATAAATCAACAAAAATAAGCAATAAGGGAAGGACCCCCTATTCAATAAATGGTGCTGGGAAAATTGGCTGT... | pathogenic | 109,854 |
Is the genetic variant on chromosome 6, position 64945897, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Retinitis_pigmentosa'] | ATACTAAAATGTACGTAGAGTGAAGAAAGAGATTGAATAACTAAAGCAATCTTAGAGAGGAAATAAAAAAAGATGGAGGCATCATGTTACCTGACTTCAAACTATACGTAAGTCTACAGTAACCAAAAACAGCATGGCAGCATTGCACTGGTAAAACAACAACAATAACAGACACACAGATCAGTGGAACAGAATAGCAAAACCAGAAATAAAGCAACATACTGACAGCCATTTAATATTTGATAAATCAACAAAAATAAGCAATAAGGGAAGGACCCCCTATTCAATAAATGGTGCTGGGAAAATTGGCTGTCCATATG... | ATACTAAAATGTACGTAGAGTGAAGAAAGAGATTGAATAACTAAAGCAATCTTAGAGAGGAAATAAAAAAAGATGGAGGCATCATGTTACCTGACTTCAAACTATACGTAAGTCTACAGTAACCAAAAACAGCATGGCAGCATTGCACTGGTAAAACAACAACAATAACAGACACACAGATCAGTGGAACAGAATAGCAAAACCAGAAATAAAGCAACATACTGACAGCCATTTAATATTTGATAAATCAACAAAAATAAGCAATAAGGGAAGGACCCCCTATTCAATAAATGGTGCTGGGAAAATTGGCTGTCCATATG... | pathogenic | 109,855 |
Chromosome 6, position 65057682, gene EYS (eyes shut homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinitis_pigmentosa_25'] | TTTCTTGCTTTTGATGACCTTAACAGATTTGAGAAATTCTAGTCAAGTATTTTTTAGAATGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTAT... | TTTCTTGCTTTTGATGACCTTAACAGATTTGAGAAATTCTAGTCAAGTATTTTTTAGAATGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTAT... | pathogenic | 109,864 |
The genetic variant at chromosome 6, position 65057740, affecting gene EYS (eyes shut homolog): benign or pathogenic? Disease name(s) if pathogenic? | benign | ATGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTATCTGCTGTCCAAATTTAAGGGATGGGGAGTTTTGTTCCACTTCATTAAGTTCAAAGTAC... | ATGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTATCTGCTGTCCAAATTTAAGGGATGGGGAGTTTTGTTCCACTTCATTAAGTTCAAAGTAC... | benign | 109,867 |
A mutation at chromosome position 65057741 on chromosome 6 in gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | TGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTATCTGCTGTCCAAATTTAAGGGATGGGGAGTTTTGTTCCACTTCATTAAGTTCAAAGTACC... | TGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTATCTGCTGTCCAAATTTAAGGGATGGGGAGTTTTGTTCCACTTCATTAAGTTCAAAGTACC... | benign | 109,869 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 65057741, gene EYS (eyes shut homolog). What disease(s) is it linked to if pathogenic? | benign | TGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTATCTGCTGTCCAAATTTAAGGGATGGGGAGTTTTGTTCCACTTCATTAAGTTCAAAGTACC... | TGTCTGTCAATTGGGATTTGTCTGATAATTTTTTGATGACTAGACTCAGAAAATGTACTTTTGAAAGGAAGATGAGAGACAAAAAGTGCCATTCTCATCATTTCATATCAAAAGTTTAGGTTATTAACACGGCTGTGTATGTTGATGTTAACCTTGGTCCTGTAGCTCAGGTAGCAATTGTCAGACTTCTCCACTGTAAAGCTGCTCTTCCCTCCATGACCCCCTTTTTACATGCCATACTCTTTGAAAGCCAGTCACTATCTGCTGTCCAAATTTAAGGGATGGGGAGTTTTGTTCCACTTCATTAAGTTCAAAGTACC... | benign | 109,870 |
Considering the variant on chromosome 6, location 65295847, involving gene EYS (eyes shut homolog), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | CTGGAGATACAGAGACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGA... | CTGGAGATACAGAGACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGA... | benign | 109,871 |
Does the chromosome 6 mutation at position 65295847 within gene EYS (eyes shut homolog) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CTGGAGATACAGAGACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGA... | CTGGAGATACAGAGACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGA... | benign | 109,872 |
Is the chromosome 6, position 65295847 variant in EYS (eyes shut homolog) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | CTGGAGATACAGAGACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGA... | CTGGAGATACAGAGACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGA... | benign | 109,873 |
Determine if the mutation at chromosome 6, position 65295861 in gene EYS (eyes shut homolog) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_25'] | ACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGAAGGGAGATACAACT... | ACTGACATTTAATCTGGAAATTTGACCGTAAGGCTAATACTTCCAAAAATGTGATGGGGATCAGGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGAAGGGAGATACAACT... | pathogenic | 109,874 |
Evaluate this variant at chromosome 6, position 65295924, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGAAGGGAGATACAACTAACAGAAGGAACCAGATAGAGGAAGAGAAGGGGGCTGGAGAGAAAGAGGGGCATCTACTTTAA... | GGGAAATAAAAGGTGATTATACTTGATATAAAAAGCCATGGTTACGTTGTTTTTAAAATGTTAACAAATGCCTTCAGAAAGCACATGAGTTTGGAGACGGAGGGAGAGAAAGCAAATGGAGGGGGGAAAAGAGACAGCAAGGAGAAATCAAATGGAAAGGGAGAAAGGGAAGGAGGAGGATCATATGATGGGGAGAGAAACCAGGTGGAAACGGAGAAATCAGATGGGAAGAATTCAAGATGAAGGGAGATACAACTAACAGAAGGAACCAGATAGAGGAAGAGAAGGGGGCTGGAGAGAAAGAGGGGCATCTACTTTAA... | pathogenic | 109,878 |
Is the genetic mutation found on chromosome 6 at position 65335101, within the gene EYS (eyes shut homolog), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | ATCTATATTTTATTTTATTAATTTTACTCTACATTTTATGATTTCCTTCTTTCTACTTATTTTATTTAGGTTTAGTTTCCTCTCTTATCCATTGTGTTGTGGAAGTTTAGGCTATTGAGGTATTTACAGCTATAAATTTTATTCGCAGCACTGCATCACCCACATCCCATGAGTTTTGGTATCCATTTTCAATAATCTCAAAGTCTTTTCTAATTTCTCTTGCAATTTCACTTTGATTCATTGTTTAATAAAGATTGTATTATTTAACTTCCATGTAATTGTAAATTTATCAAGTTACTTATTGATTTTGATGTTTAATC... | ATCTATATTTTATTTTATTAATTTTACTCTACATTTTATGATTTCCTTCTTTCTACTTATTTTATTTAGGTTTAGTTTCCTCTCTTATCCATTGTGTTGTGGAAGTTTAGGCTATTGAGGTATTTACAGCTATAAATTTTATTCGCAGCACTGCATCACCCACATCCCATGAGTTTTGGTATCCATTTTCAATAATCTCAAAGTCTTTTCTAATTTCTCTTGCAATTTCACTTTGATTCATTGTTTAATAAAGATTGTATTATTTAACTTCCATGTAATTGTAAATTTATCAAGTTACTTATTGATTTTGATGTTTAATC... | pathogenic | 109,892 |
Variant at chromosome position 65335105, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | ATATTTTATTTTATTAATTTTACTCTACATTTTATGATTTCCTTCTTTCTACTTATTTTATTTAGGTTTAGTTTCCTCTCTTATCCATTGTGTTGTGGAAGTTTAGGCTATTGAGGTATTTACAGCTATAAATTTTATTCGCAGCACTGCATCACCCACATCCCATGAGTTTTGGTATCCATTTTCAATAATCTCAAAGTCTTTTCTAATTTCTCTTGCAATTTCACTTTGATTCATTGTTTAATAAAGATTGTATTATTTAACTTCCATGTAATTGTAAATTTATCAAGTTACTTATTGATTTTGATGTTTAATCTCAT... | ATATTTTATTTTATTAATTTTACTCTACATTTTATGATTTCCTTCTTTCTACTTATTTTATTTAGGTTTAGTTTCCTCTCTTATCCATTGTGTTGTGGAAGTTTAGGCTATTGAGGTATTTACAGCTATAAATTTTATTCGCAGCACTGCATCACCCACATCCCATGAGTTTTGGTATCCATTTTCAATAATCTCAAAGTCTTTTCTAATTTCTCTTGCAATTTCACTTTGATTCATTGTTTAATAAAGATTGTATTATTTAACTTCCATGTAATTGTAAATTTATCAAGTTACTTATTGATTTTGATGTTTAATCTCAT... | pathogenic | 109,893 |
Evaluate if the mutation on chromosome 6 at position 65335142 in EYS (eyes shut homolog) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | TTTCCTTCTTTCTACTTATTTTATTTAGGTTTAGTTTCCTCTCTTATCCATTGTGTTGTGGAAGTTTAGGCTATTGAGGTATTTACAGCTATAAATTTTATTCGCAGCACTGCATCACCCACATCCCATGAGTTTTGGTATCCATTTTCAATAATCTCAAAGTCTTTTCTAATTTCTCTTGCAATTTCACTTTGATTCATTGTTTAATAAAGATTGTATTATTTAACTTCCATGTAATTGTAAATTTATCAAGTTACTTATTGATTTTGATGTTTAATCTCATTCAATTTTGGTCAGATAATGTCCTTTTTATTATTTCA... | TTTCCTTCTTTCTACTTATTTTATTTAGGTTTAGTTTCCTCTCTTATCCATTGTGTTGTGGAAGTTTAGGCTATTGAGGTATTTACAGCTATAAATTTTATTCGCAGCACTGCATCACCCACATCCCATGAGTTTTGGTATCCATTTTCAATAATCTCAAAGTCTTTTCTAATTTCTCTTGCAATTTCACTTTGATTCATTGTTTAATAAAGATTGTATTATTTAACTTCCATGTAATTGTAAATTTATCAAGTTACTTATTGATTTTGATGTTTAATCTCATTCAATTTTGGTCAGATAATGTCCTTTTTATTATTTCA... | pathogenic | 109,894 |
Variant at chromosome position 65353588, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_25'] | TTTTCCCTCAAAAATACTTCTGCCATTTCATCATTGTGAATATGTTCCCTGTAGCAATTTATAGTTCTCAAAAGAAGTTTAATATTTAAAAATAACCAAACATATGAAAGCATTATTCCTACTATGAGATAAAGGAAAATGAAGTGCAAAAACGATGCAAGCACTGAAATATGTGAACTAATTTGGTTGTAACAGTAGAGAGCATTTCTCAATCTGCACACTGAAAGCATGTAGGGAACCTCAAAAAATACTCTGTGTCCATCTCACTACAATTCCAGTTTGATTGTTCTGTAATGAGAGTTCACCATTAGTATGTTTCA... | TTTTCCCTCAAAAATACTTCTGCCATTTCATCATTGTGAATATGTTCCCTGTAGCAATTTATAGTTCTCAAAAGAAGTTTAATATTTAAAAATAACCAAACATATGAAAGCATTATTCCTACTATGAGATAAAGGAAAATGAAGTGCAAAAACGATGCAAGCACTGAAATATGTGAACTAATTTGGTTGTAACAGTAGAGAGCATTTCTCAATCTGCACACTGAAAGCATGTAGGGAACCTCAAAAAATACTCTGTGTCCATCTCACTACAATTCCAGTTTGATTGTTCTGTAATGAGAGTTCACCATTAGTATGTTTCA... | pathogenic | 109,914 |
For chromosome 6, position 65384377, gene EYS (eyes shut homolog): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Macular_dystrophy', 'Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | ATATGGACTCACTTTTTTTCCATGTGTGTTGTGATAAGATGTTCCTTTGTTAGTTAAATTATCTTAGTGTTTCTGAGGGAATTCAACAGAAATTTCCCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAG... | ATATGGACTCACTTTTTTTCCATGTGTGTTGTGATAAGATGTTCCTTTGTTAGTTAAATTATCTTAGTGTTTCTGAGGGAATTCAACAGAAATTTCCCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAG... | pathogenic | 109,918 |
A genetic alteration at chromosome 6, position 65384450, in gene EYS (eyes shut homolog)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Retinitis_pigmentosa_25'] | TGAGGGAATTCAACAGAAATTTCCCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTAT... | TGAGGGAATTCAACAGAAATTTCCCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTAT... | pathogenic | 109,922 |
Is the variant located on chromosome 6 at position 65384468, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinitis_pigmentosa_25'] | ATTTCCCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTATCCAGCACAGAACAAAGAT... | ATTTCCCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTATCCAGCACAGAACAAAGAT... | pathogenic | 109,923 |
Mutation found at chromosome 6 position 65384473, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | CCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTATCCAGCACAGAACAAAGATGTAGG... | CCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTATCCAGCACAGAACAAAGATGTAGG... | pathogenic | 109,924 |
Evaluate this variant at chromosome 6, position 65384473, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | CCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTATCCAGCACAGAACAAAGATGTAGG... | CCCGTGGATCTATCTTTGAAGTCTCCTTTCCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCTTCTAGTTCATCCTTATGCTATGTATTAGTCAAGGTTCTCTAGGGGGACAGAACTAATAGGATAGATTTATATGAAAAGGGGAGTTTATTAAGGAGTATTAACTCATACTATCACAGGGTCCCACAGTAGGCTGTCTGCAAGCTGAGGAGCAAGGAAGCCAGTCTGAGTCCCAAAGCAAAGAACTTGGAGTCCAATGTTCGAGAGCAGGAAGTATCCAGCACAGAACAAAGATGTAGG... | pathogenic | 109,925 |
Does the variant on chromosome 6 at location 65405245 affecting gene EYS (eyes shut homolog) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Retinitis_pigmentosa_25'] | CCACCAAGTTTTGGGGTGACTATGCATAGAAAATAAACCATTGGCACCTGAAACAAGTCCATGCATCCATGGGCAGGTAAAAATAAAATGAAATTAAATTTGCTGGGCAAAAGTTAATTTCACCTGCATTCAAAATACAACCTAATCATCATATTTCTTCCTCTTGCTGTCCTCCTTATTTTTTCCTCTCTTTTTTCTTTGTTATCCTTATCATCATCATCATTACCATCATTTTCATTATCATATTTATCTGAACAACAAGATTTATTAAGATTCCAAGGTAAAAAGCCCGTATACTTAAAATTGATGATTTTTTTATT... | CCACCAAGTTTTGGGGTGACTATGCATAGAAAATAAACCATTGGCACCTGAAACAAGTCCATGCATCCATGGGCAGGTAAAAATAAAATGAAATTAAATTTGCTGGGCAAAAGTTAATTTCACCTGCATTCAAAATACAACCTAATCATCATATTTCTTCCTCTTGCTGTCCTCCTTATTTTTTCCTCTCTTTTTTCTTTGTTATCCTTATCATCATCATCATTACCATCATTTTCATTATCATATTTATCTGAACAACAAGATTTATTAAGATTCCAAGGTAAAAAGCCCGTATACTTAAAATTGATGATTTTTTTATT... | pathogenic | 109,938 |
Does the genetic variant at chromosome 6, position 65405287, impacting gene EYS (eyes shut homolog), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | GGCACCTGAAACAAGTCCATGCATCCATGGGCAGGTAAAAATAAAATGAAATTAAATTTGCTGGGCAAAAGTTAATTTCACCTGCATTCAAAATACAACCTAATCATCATATTTCTTCCTCTTGCTGTCCTCCTTATTTTTTCCTCTCTTTTTTCTTTGTTATCCTTATCATCATCATCATTACCATCATTTTCATTATCATATTTATCTGAACAACAAGATTTATTAAGATTCCAAGGTAAAAAGCCCGTATACTTAAAATTGATGATTTTTTTATTCTCATTGAATCCAATCAAAATTTATTTAATTTAACCCAAAAC... | GGCACCTGAAACAAGTCCATGCATCCATGGGCAGGTAAAAATAAAATGAAATTAAATTTGCTGGGCAAAAGTTAATTTCACCTGCATTCAAAATACAACCTAATCATCATATTTCTTCCTCTTGCTGTCCTCCTTATTTTTTCCTCTCTTTTTTCTTTGTTATCCTTATCATCATCATCATTACCATCATTTTCATTATCATATTTATCTGAACAACAAGATTTATTAAGATTCCAAGGTAAAAAGCCCGTATACTTAAAATTGATGATTTTTTTATTCTCATTGAATCCAATCAAAATTTATTTAATTTAACCCAAAAC... | pathogenic | 109,940 |
Is the genetic change at chromosome 6, position 65405319, within gene EYS (eyes shut homolog) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | AGGTAAAAATAAAATGAAATTAAATTTGCTGGGCAAAAGTTAATTTCACCTGCATTCAAAATACAACCTAATCATCATATTTCTTCCTCTTGCTGTCCTCCTTATTTTTTCCTCTCTTTTTTCTTTGTTATCCTTATCATCATCATCATTACCATCATTTTCATTATCATATTTATCTGAACAACAAGATTTATTAAGATTCCAAGGTAAAAAGCCCGTATACTTAAAATTGATGATTTTTTTATTCTCATTGAATCCAATCAAAATTTATTTAATTTAACCCAAAACTAACGTTGAAAGAGGTATATAGCTTGCCCAAC... | AGGTAAAAATAAAATGAAATTAAATTTGCTGGGCAAAAGTTAATTTCACCTGCATTCAAAATACAACCTAATCATCATATTTCTTCCTCTTGCTGTCCTCCTTATTTTTTCCTCTCTTTTTTCTTTGTTATCCTTATCATCATCATCATTACCATCATTTTCATTATCATATTTATCTGAACAACAAGATTTATTAAGATTCCAAGGTAAAAAGCCCGTATACTTAAAATTGATGATTTTTTTATTCTCATTGAATCCAATCAAAATTTATTTAATTTAACCCAAAACTAACGTTGAAAGAGGTATATAGCTTGCCCAAC... | pathogenic | 109,941 |
Chromosome 6, position 65490652, gene EYS (eyes shut homolog): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TTCACAGAATTGGAAAAATCTACTATAAACTTCATATGGAACCAAAAAAGAGCCCACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGTATCATGCTACCTAACTTCAAATTTTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAATGGAGACCTCAGAAATAACACCACACATCTACCATCATCTGGTCTTCAACAAACCTGACACACACAAGCAATGGGGAAAAGATTCTCTATTTAAGAAATGGTGTTGGGAAAACTGGCTAGCCAT... | TTCACAGAATTGGAAAAATCTACTATAAACTTCATATGGAACCAAAAAAGAGCCCACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGTATCATGCTACCTAACTTCAAATTTTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAATGGAGACCTCAGAAATAACACCACACATCTACCATCATCTGGTCTTCAACAAACCTGACACACACAAGCAATGGGGAAAAGATTCTCTATTTAAGAAATGGTGTTGGGAAAACTGGCTAGCCAT... | pathogenic | 109,945 |
Gene EYS (eyes shut homolog) variant at chromosome position 65490669 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Retinal_dystrophy'] | ATCTACTATAAACTTCATATGGAACCAAAAAAGAGCCCACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGTATCATGCTACCTAACTTCAAATTTTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAATGGAGACCTCAGAAATAACACCACACATCTACCATCATCTGGTCTTCAACAAACCTGACACACACAAGCAATGGGGAAAAGATTCTCTATTTAAGAAATGGTGTTGGGAAAACTGGCTAGCCATATGCTGAAAACTAAAAC... | ATCTACTATAAACTTCATATGGAACCAAAAAAGAGCCCACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGTATCATGCTACCTAACTTCAAATTTTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAATGGAGACCTCAGAAATAACACCACACATCTACCATCATCTGGTCTTCAACAAACCTGACACACACAAGCAATGGGGAAAAGATTCTCTATTTAAGAAATGGTGTTGGGAAAACTGGCTAGCCATATGCTGAAAACTAAAAC... | pathogenic | 109,946 |
Chromosome 6, position 65490706, gene EYS (eyes shut homolog): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_25'] | CACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGTATCATGCTACCTAACTTCAAATTTTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAATGGAGACCTCAGAAATAACACCACACATCTACCATCATCTGGTCTTCAACAAACCTGACACACACAAGCAATGGGGAAAAGATTCTCTATTTAAGAAATGGTGTTGGGAAAACTGGCTAGCCATATGCTGAAAACTAAAACTGGACCCCTTCCTTACTCCTTATACAAAAATCAACTC... | CACATAGCCAAGACAATCCTGGGCAAGAAGAACAAAGCTGGAGGTATCATGCTACCTAACTTCAAATTTTACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAATGGAGACCTCAGAAATAACACCACACATCTACCATCATCTGGTCTTCAACAAACCTGACACACACAAGCAATGGGGAAAAGATTCTCTATTTAAGAAATGGTGTTGGGAAAACTGGCTAGCCATATGCTGAAAACTAAAACTGGACCCCTTCCTTACTCCTTATACAAAAATCAACTC... | pathogenic | 109,948 |
Gene EYS (eyes shut homolog) variant at chromosome 6, position 65494716—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | AATCACCTGATATACCCCAGCGGAAAGAAGAGGTATAACTTGCACCTTCTATCACCAATGCCAACACAGTCAAATGAGAATTTGATCCACGTTATAGAGACAATATATTCAGTGGCTATTATTGGTATTAACTTCTATAATAATCTTGGTACTAAGCTATCAAGTTCAAAATGACTATTTGAAAGATTGGATGAGGTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAG... | AATCACCTGATATACCCCAGCGGAAAGAAGAGGTATAACTTGCACCTTCTATCACCAATGCCAACACAGTCAAATGAGAATTTGATCCACGTTATAGAGACAATATATTCAGTGGCTATTATTGGTATTAACTTCTATAATAATCTTGGTACTAAGCTATCAAGTTCAAAATGACTATTTGAAAGATTGGATGAGGTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAG... | pathogenic | 109,954 |
Clinically, how would you classify the variant at chromosome 6, position 65494767, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinitis_pigmentosa_25'] | TCACCAATGCCAACACAGTCAAATGAGAATTTGATCCACGTTATAGAGACAATATATTCAGTGGCTATTATTGGTATTAACTTCTATAATAATCTTGGTACTAAGCTATCAAGTTCAAAATGACTATTTGAAAGATTGGATGAGGTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTC... | TCACCAATGCCAACACAGTCAAATGAGAATTTGATCCACGTTATAGAGACAATATATTCAGTGGCTATTATTGGTATTAACTTCTATAATAATCTTGGTACTAAGCTATCAAGTTCAAAATGACTATTTGAAAGATTGGATGAGGTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTC... | pathogenic | 109,957 |
Variant at chromosome position 65494883, chromosome 6, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['EYS-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | AAAATGACTATTTGAAAGATTGGATGAGGTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGA... | AAAATGACTATTTGAAAGATTGGATGAGGTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGA... | pathogenic | 109,961 |
A genetic variant at chromosome 6, position 65494911, affecting gene EYS (eyes shut homolog)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCT... | GTGAATTTTACAGCCTACAATGGCTTATTGAGGTCTTCTATTACATCTTTTTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCT... | pathogenic | 109,963 |
Regarding the variant found on chromosome 6 at position 65494961 in gene EYS (eyes shut homolog): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | TTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATC... | TTATTTTATCTTATTTTATTTTTTGAGACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATC... | pathogenic | 109,965 |
Regarding the variant at chromosome 6 and position 65494988, affecting gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | ACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAA... | ACAGTCTCCCTTCATCGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTACAAACTCTACCTCCTGGTTCAAGGGATTCTTCCGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACCCGCCATTATGCCCAGCTAATTTTTGTATTTTTGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAA... | pathogenic | 109,966 |
Gene EYS (eyes shut homolog) variant at chromosome 6, position 65495178—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | GTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTC... | GTCTTGAACTCCTTACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTC... | pathogenic | 109,971 |
Clinically, how would you classify the variant at chromosome 6, position 65495194, gene EYS (eyes shut homolog): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Retinal_dystrophy'] | CTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATC... | CTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATC... | pathogenic | 109,972 |
Gene EYS (eyes shut homolog) variant at chromosome position 65495231 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'Retinal_dystrophy', 'Retinitis_pigmentosa_25'] | GGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTC... | GGGATTATAGGCATGAGCCGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTC... | pathogenic | 109,973 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 65495249, gene EYS (eyes shut homolog). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinitis_pigmentosa_25'] | CGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAA... | CGCCTCCAAGTCGGCTCCCATTACATGTTATCACACAGCCTCTTTAAACTTGGCTCCAATGGAGTCAGCCTCAGGCACAGGGGAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAA... | pathogenic | 109,975 |
Is chromosome 6, position 65495331, gene EYS (eyes shut homolog) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Retinitis_pigmentosa_25'] | GAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAAATTCTTCCACAAGTTTCCAAGCTTTAAATGTTCCCTACATTTTTTCAGTCTTTCTCCTCACTTTCCTCCGATGACCCCAGAA... | GAGAAGGAATCCCCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAAATTCTTCCACAAGTTTCCAAGCTTTAAATGTTCCCTACATTTTTTCAGTCTTTCTCCTCACTTTCCTCCGATGACCCCAGAA... | pathogenic | 109,978 |
Is the variant located on chromosome 6 at position 65495343, gene EYS (eyes shut homolog), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Retinitis_pigmentosa'] | CCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAAATTCTTCCACAAGTTTCCAAGCTTTAAATGTTCCCTACATTTTTTCAGTCTTTCTCCTCACTTTCCTCCGATGACCCCAGAATCCTCTAGTATA... | CCCTAAAGCCTGCCTAACAAAATTACAGTTAAATCCCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAAATTCTTCCACAAGTTTCCAAGCTTTAAATGTTCCCTACATTTTTTCAGTCTTTCTCCTCACTTTCCTCCGATGACCCCAGAATCCTCTAGTATA... | pathogenic | 109,979 |
Gene mutation in EYS (eyes shut homolog) at chromosome 6, position 65495378—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Autosomal_recessive_retinitis_pigmentosa', 'EYS-related_disorder', 'Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_25'] | CCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAAATTCTTCCACAAGTTTCCAAGCTTTAAATGTTCCCTACATTTTTTCAGTCTTTCTCCTCACTTTCCTCCGATGACCCCAGAATCCTCTAGTATATTCTCAAGTAGAGAGAGTTTTATTCCCTTCAAACT... | CCTGCAGGTGATCTGCTCTAGATATAGCTCTGCTTTAACCTTCCTTCCTCTTTTATGACCAAAATACATACCAATCTGCTGTTTTCGTATACTATTATTATCAGCTGTGTCAAATATTTCTCTTTGTTAGATCATCGTGGTCTTATTTCACTTGTAACTCTCCATGCCAGGTCTGTCAAACCCTCAAATAAATTCTTCCACAAGTTTCCAAGCTTTAAATGTTCCCTACATTTTTTCAGTCTTTCTCCTCACTTTCCTCCGATGACCCCAGAATCCTCTAGTATATTCTCAAGTAGAGAGAGTTTTATTCCCTTCAAACT... | pathogenic | 109,980 |
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