ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_1100 | Here’s a variant in ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Retinitis pigmentosa 19 | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... |
Task1_train_1101 | This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Severe early-childhood-onset retinal dystrophy | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... | ACCGTGGTGTGGGTGGGGCTCTCTGTAGGAGGCATATCTGAGCCTTGGAGCAACTCAAGCCCAGTGAACCAGCTGGGCTCTGAGCCAAGGAACTGCCTCAAGCTGTGGACTGCATAAGCAGCAGGGGTACCTGGGCTTGTCGACTGGCTCCAGCAGCTCGAGGGTGCAGAGGGAGGTCATGACTTTCAGTCTGCTGTTTAGCAAAATTTACAAACACCTAGAGGTAAGAGAAGAGCGAGATTAGGTAGATATTTCCAGGAAAACAGCACCCTACACCCACCTACCCACTTTGCTCTCTATTTTCCACAGTTCACATACAG... |
Task1_train_1102 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCG... | CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCG... |
Task1_train_1103 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinitis pigmentosa | CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCG... | CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCG... |
Task1_train_1104 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Retinal dystrophy | CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCG... | CCTCAGTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCG... |
Task1_train_1105 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | GTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAG... | GTCTCCTGAGAGGCTGGAACTACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAG... |
Task1_train_1106 | Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | ACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACC... | ACAGGCACCTGCCACCACACTCGGCTAATTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATGTTGGCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACC... |
Task1_train_1107 | Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGAC... | GCCAGGCTGGTCTTAAACTCCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGAC... |
Task1_train_1108 | Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance. | Pathogenic; Retinal dystrophy | GATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACC... | GATTACAGGCATGAGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACC... |
Task1_train_1109 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Stargardt disease | AGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGG... | AGCCACCACGCCCAGCCTATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGG... |
Task1_train_1110 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; not provided | TATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGT... | TATTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGT... |
Task1_train_1111 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Retinal dystrophy | TTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGG... | TTTTATTTTTTGAGACAGAGTCTTGCTGTTTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGATTCACTGCAACCTCTGCCTTCTGAGTTCAAGCAATTCTTGTGCCTCAGTTTCCCGAGTAGGTGGGATTACAGGTGCATACCACCATGCCCATCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACCTGCCTCAGCTTCCCAAAGTGATAGGATTACAGGTGTAAGCCACTGCACCTGGCCGTCAAAGGTAGTTTTAGCCCAGTGTGG... |
Task1_train_1112 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAA... | TCCAGCAGTTGGACACAGGAAGTTGCTGACACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAA... |
Task1_train_1113 | Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | CACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAA... | CACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAA... |
Task1_train_1114 | This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | ACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAAC... | ACAGGTCTGGTGACCTGACATGCTGCTATTTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAAC... |
Task1_train_1115 | Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance. | Pathogenic; Retinal dystrophy | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... |
Task1_train_1116 | This sequence change occurs on Chromosome 1, altering ABCA4 (ATP binding cassette subfamily A member 4). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Retinitis pigmentosa | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... |
Task1_train_1117 | Here’s a variant in ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Severe early-childhood-onset retinal dystrophy | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... |
Task1_train_1118 | Mutation context: Chromosome 1, Gene ABCA4 (ATP binding cassette subfamily A member 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Age related macular degeneration 2 | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... |
Task1_train_1119 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Cone-rod dystrophy 3 | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... |
Task1_train_1120 | A change on Chromosome 1 affects gene ABCA4 (ATP binding cassette subfamily A member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Retinitis pigmentosa 19 | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... | TTCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATAT... |
Task1_train_1121 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Severe early-childhood-onset retinal dystrophy | TCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATC... | TCTATAGATATCTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATC... |
Task1_train_1122 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Cone-rod dystrophy 3 | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... |
Task1_train_1123 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Age related macular degeneration 2 | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... |
Task1_train_1124 | Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance. | Pathogenic; Retinitis pigmentosa 19 | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... |
Task1_train_1125 | This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; Severe early-childhood-onset retinal dystrophy | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... | CTATGCAGTGTCCAAGTTGTAGTTGCTCAATAAATCATGGGTCAAACGTCCACTTGCCACAAGCAGCTAATCTATTAGACCTTTCTCTCAATTATTTATCTGCTCTGACACATATGAAAGGATGACATCTTCTGTGTAACACCCTCCTGTGGGTGCATCAGGATTATGCACCTCAGCATAGATAAGGTGGGTTATGTGCTGTTCCTCCCACCAACCAGCTTAGTGACTTATATTCTGAGCTCTTAATAAGTGTTTGTTAAATAAATGAGTAATTGTAACTCTGCTCTTTTCTAGGTTATAAAGCATATCAGAACGTGAAT... |
Task1_train_1126 | This variant impacts the gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | CAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAT... | CAGGTTACATATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCAT... |
Task1_train_1127 | A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Severe early-childhood-onset retinal dystrophy | TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCAC... | TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCAC... |
Task1_train_1128 | A genomic change on Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Retinal dystrophy | TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCAC... | TATCTCCAATCTGGATTCTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCAC... |
Task1_train_1129 | The following genetic variant occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinal dystrophy | CTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAG... | CTACATAAGTGAAATTGTGTCCTTCACAGGGTATCACATCTCGGGGCATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAG... |
Task1_train_1130 | This is a variant in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCT... | CATGAGATGTCCATCTGCCCCTTATGGTTAATTTTGATCACCCAGTTAAGGTGCTGTCTAATTTCTCCATTGTAAAATTATTATGTTTCTCCCATGTAACCAATAAGCAATCTGTACAGAGTTACTTTTATTTCTTTAAAATTATATTATTATTATTTTAAGAGACAGAGTCTTGCTCTGTTTCCCAGGCTGGAGAGCAGTGGCTTGATCACAGCTCACTGCAGCCTCAACCTCCTGGGCTCAAGCATTCCTCCCACCTCAGCCACCTGAGTAGCTGGGACTATAGGCGTGCACCACCAGGCCCAGCTAATTTGTTTGCT... |
Task1_train_1131 | A variant was discovered in gene ABCA4 (ATP binding cassette subfamily A member 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; not provided | ATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACA... | ATCCTTCAAGGAGTGGAGGGATGACCATAGAGCTAGGGCTGGAGAAGCTTCTGCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACA... |
Task1_train_1132 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal dystrophy | GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTC... | GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTC... |
Task1_train_1133 | A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Stargardt disease | GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTC... | GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTC... |
Task1_train_1134 | A sequence alteration has been identified in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it disease-inducing or harmless? | Pathogenic; Severe early-childhood-onset retinal dystrophy | GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTC... | GCCAACGGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTC... |
Task1_train_1135 | This genomic variant is located on Chromosome 1, within the ABCA4 (ATP binding cassette subfamily A member 4) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Retinal dystrophy | GGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTG... | GGGAAAAGGAAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTG... |
Task1_train_1136 | This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTG... | AAGCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTG... |
Task1_train_1137 | This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; not provided | GCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGC... | GCTGCTTCTTCTCTTCTCCTATTTGGCTTCAGAAATGCATGGGATATTTGGGAATCAAAACAGGGGCCCTTCGGTTAGAAACTGAATCCTGTCAGATTCTTCCATGTTTCCATGTCTAGGATTAATTGAATCCCTGTTACGCCAAAAGTCAGCTTTCATTTTGGATCAGATCACCTCACATGTGAGTTTAAAAACAGAGGGAAGATCAGGTTTAAGAAAATGATTCATGATTTATCAATAATTTTCAGACATTTGGGAAGTAACTAGAAAAGATGCATGTGTCCCGATGGAAGTAAACTTCTCTATCTGTATTTATTGGC... |
Task1_train_1138 | Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | AGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCT... | AGCCACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCT... |
Task1_train_1139 | Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Autosomal recessive retinitis pigmentosa | ACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTT... | ACATCATCATCTTCATCAACAATGGGCTCCTTAGTGGGCTCGGCAATCCTAGATGAAGAAAAGGGGTCAGGATTGGGCTGGCTGTACAGTGTCCTTGGCACTGTCCTTTCCATGGGACCTCTCTTCCACTTCCTTGCTTCTGCTTCCTTCTGGGCTTCCATCCTTTAAGACTTAAATTCTAAAAAGGGCTCCCAGCAGGAGAGGCATTAGGCATTAGGTAGAGAGGTCAGGTGCTCATGTCCAGAGTCAGCCTTGGGTTCCAGTCCTGGCCTCCTCATGTGTGATCTTGGGCATTGGACCTCTCTGAACCTTGCCTACTT... |
Task1_train_1140 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not provided | GTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCC... | GTGCCTGGCACAGAGTAAAGACTCAGGGCCTGGGATCACCGTCAGGACTAAAATGCTTCCTCTACAGCAAGCACTCAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCC... |
Task1_train_1141 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | CAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCT... | CAGTAAGGGGTAGTTACTAACCTCCGAGCCTCCCACTTCCTCCAGTCTGCCCTGCCAACTCCACCTTTCCAAAACAGAGTTGTCATCAGGCCACCTCATGCCTCAAAACCTTCTGTTGTTCCCCATCAGCTGTAGGTTGAAGCCCTCCCTCTGCAGCTGTAGTTACAGCCCTGCAATCCAGCCCCACCTACCCTTCTCACTTACCTCTTGCACTAACTCCTCTGTCAGCAATTGGCATCTCCCCCTGGTTCCCAGTCCTATTGGTCATTCCCGTCTCCCAGCCTCCGCATGTGTTTCCAGTCCCTCAATGTTCTCCTCCT... |
Task1_train_1142 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | TTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATAT... | TTTTGTCCTTCCTAAATACCTGCACAATGATTAGCTCAGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATAT... |
Task1_train_1143 | This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | AGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAG... | AGAGTAGGCACTTCATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAG... |
Task1_train_1144 | With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCA... | ATTATTTATTAAATGGGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCA... |
Task1_train_1145 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Stargardt disease | GGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCT... | GGCTAATAGAAATCTACAGGCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCT... |
Task1_train_1146 | A change on Chromosome 1 affects gene ABCA4 (ATP binding cassette subfamily A member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | GCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTT... | GCTGAAATTGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTT... |
Task1_train_1147 | Assess the clinical impact of this variant on gene ABCA4 (ATP binding cassette subfamily A member 4), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | TGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGG... | TGAACTTCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGG... |
Task1_train_1148 | Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | TCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTG... | TCCTCCACCACGGCTCCCCCAGCCCCTGCAGCCTGGCTCTTCCCGCTGCCTCTGGCCTGCAGCATGTTATCTGCCTCGCTCCTCTGCTGCTCTGTCACACGCTGTATTATGGAGGATCATACACTGTGGCTTATATCGTTGCAAACTTCGTGGGCAGGTCCTTTTCCGACTGGAACGGGAGCCTCTGGAGGGCAGGACGAGTGGGCCACGCTTGTTTATATCAGCACACACCCGGCACGTGGTGTTCAGCTGGTAAAGACCTCCTGATCTCACACGGGCCGGCAGCTGCTGGGAGCTGGGGAGCTTCCTGTGGGATACTG... |
Task1_train_1149 | With a mutation on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | ACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGT... | ACAGGGGGAGGTCAGGTGGAAGGGACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGT... |
Task1_train_1150 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Cone-rod dystrophy 3 | ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACC... | ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACC... |
Task1_train_1151 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Severe early-childhood-onset retinal dystrophy | ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACC... | ACAACTGGGCTTGGCAGCTCATAAAAGTGAGGCATTCAGCATGGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACC... |
Task1_train_1152 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | GGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAG... | GGAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAG... |
Task1_train_1153 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not specified | GAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGC... | GAGAACACCCAGTCTCTTCATCAAGATTAACTTGCCCAAGGAATAGTATATGTCAGAGTGTTACAATTTCCATAAGAAAGCGGGAGAAAGACCGTATAGGGATCTGCTGATGTGTCTCCAGAGCACACAGGAAACTCAAGTAAGAGTTTGCCTCTGGAGAAGAGAACTGCATGAGTGGGAAACAGGGGTAGGAAGGAGATTTTTTCATTGTATGCCTTTTTGTTCCTTTTAGATTTTGAAATTACCCAAATGTATTGATGTGTGTGTGTGTAAAACCCAACACCCAAAGTCCCTGAGAAAACCTTTCTGAAAGAGTAAGC... |
Task1_train_1154 | Here is a genetic alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Retinal dystrophy | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... |
Task1_train_1155 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Retinitis pigmentosa | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... |
Task1_train_1156 | This alteration in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Age related macular degeneration 2 | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... |
Task1_train_1157 | The gene ABCA4 (ATP binding cassette subfamily A member 4) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cone-rod dystrophy 3 | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... |
Task1_train_1158 | A variant was discovered in gene ABCA4 (ATP binding cassette subfamily A member 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Severe early-childhood-onset retinal dystrophy | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... |
Task1_train_1159 | A variant was discovered in gene ABCA4 (ATP binding cassette subfamily A member 4), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Retinitis pigmentosa 19 | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... | GAGCTAGATCCTTTTTTCTGAAAGACATCACTGGGGCAATGGGCGAAAGAGGAGTGGGGTGTGAGGATTAGGTGGTGATGACACATCAGTGCTGGTTTCCTCATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAG... |
Task1_train_1160 | This sequence variant lies in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any? | Pathogenic; not provided | ATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTT... | ATGTTGACAGTTTGTGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTT... |
Task1_train_1161 | Given this variant in gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not provided | TGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAAT... | TGTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAAT... |
Task1_train_1162 | Here is a mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | GTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATG... | GTTGTGGTTGTATGGGGTGTATCCTCGTTTGTAGGAAGTATACATCGGACGTGCTGAGGGGTGTGAGAGAGAGAGACAGGAAGAGAGAAATAAATGAGAAGGGGCATCTTGCTGAGAAGTTACTTTCAAATGACTAAGAAAAAAAGGTTTCAACTGTACTTGTGACTTTTCCATAAGTCTGTAACTGTTGCAAAATTTTAAAGTAAAGAAAAATAGATGACACATATAAGAATTTAAAACATCATATATGTGCTAAGTGAATTACATAAGCAATAATTGTTTGTTCCTTCATTCAACTTTTTTTTTGCCACTGGCTAATG... |
Task1_train_1163 | This is a variant in ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGA... | CCTTCATATTACCTTCTCAGCGCCAGACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGA... |
Task1_train_1164 | A mutation in ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGAC... | GACTGATGCCAGGAAGGCCAGACTCATGCCTGCGGTGCAGTGATTATTTGATGGGTCAGAAGACCCCTCAGTGCAGGACATAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGAC... |
Task1_train_1165 | A genetic alteration is present in ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATT... | TAGAGAGCCCCCGTTCACCAGTTGTTAAGCTGCACCCCACAGCCTTTCCTAGCTTCGGGCTCCTAGTTCTGTGCCTTTCTGAGAAGATGTCAAGGGACAGCAGATACACAAGGCCCTTGGCCCAGTGCCTTTCAGCAGCCCTGGCACCGTGAGAACCCCTCCCCTCTTGGTCTGGTCCTTCAGAGCACACACAAGCTCCACCTTGGGCCCACGGAGGGGAGGGAGGCGCTGTAAACTGACACTTACGATGTCCCAGAGGAAGTTGGTCACCCAGTAGGTGGTGGGGCTCACTCCACTGATAAACTGGAGGTGCTTGGATT... |
Task1_train_1166 | This mutation is located in gene ABCA4, LOC126805793 (ATP binding cassette subfamily A member 4| CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | GCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTC... | GCTTGGATTTGTTCACCCGCTCCTGGATCAAATAAAGGACAAAGCTGGCTGGGACGAAGGACATGGAGAAAATCACGCAGATGGCAACCACAGCATCCACTGAAGTGGTCAGCCTGCAGCAGGGCCAGAGACACAGGGAGAGGGCGATGAAGAGGGAAGAGCAGAAGGAGGAGAAGATACAAAGTCAGGCTTTGGGAAGGCCTTACACCCGCCCAGGTGTGGCCTCCAGGTTCCTCTTCTCTACCTTGAAGCTGTCACTCCACTAAACTGTCTTAATCCATATGGACCAAGGTTAAATGGGTATTTGCGGGTTGCCTTTC... |
Task1_train_1167 | This variant affects the gene ABCA4 (ATP binding cassette subfamily A member 4) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; not provided | CCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGT... | CCGTAAGATGGCGTTGTGGGCCACATTGAGAAAGCTGACCAGGGCATGCCAGCCTTTGTTATTAAACCACACCTAGAGGGTGGAGAGGACATCTGAGACGCTGCACTAACAGCTAGTTAAAGCAGAAATCAGTGAAGGAAAGGAAATTTGAGAAGCAGGAAGGGTTTGGTAGCTGGAAGACATTCCTTGCTAGATTTCAGCAGGAGGAGGGATGGAATTTAATGAAGGTAGGAAAGTAAAAATAAAATAACCAGCTCAGGTAAATTTTTAGCTCCAGAGCAGATTATACATAGGTCAAGTACCTTAATGTTGTCTTCAGT... |
Task1_train_1168 | This is a variant in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTG... | CCTGATGCTGGAGGGTTTTGAGTGGAGGCAGCCACAGGAGCCCTCAGCATTGACAGCAAAGCAAACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTG... |
Task1_train_1169 | Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Retinal dystrophy | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1170 | Consider a variant on Chromosome 1 in gene ABCA4 (ATP binding cassette subfamily A member 4). Determine its clinical classification and disease relevance. | Pathogenic; Age related macular degeneration 2 | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1171 | Consider this mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; Cone-rod dystrophy 3 | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1172 | A variant affecting Chromosome 1, within the gene ABCA4 (ATP binding cassette subfamily A member 4), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Severe early-childhood-onset retinal dystrophy | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1173 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Retinitis pigmentosa 19 | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1174 | Located on Chromosome 1, this mutation impacts ABCA4 (ATP binding cassette subfamily A member 4). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; ABCA4-related disorder | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1175 | This is a variant in ABCA4 (ATP binding cassette subfamily A member 4), located on Chromosome 1. Is this mutation a likely cause of disease or not? | Pathogenic; Severe early-childhood-onset retinal dystrophy | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1176 | The following genetic variant occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Retinitis pigmentosa 19 | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1177 | This alteration occurs within gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Is it associated with a disease or is it a benign variant? | Pathogenic; See cases | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... | AACAAGCAAAGCTTCCTCTTGGGGCACAGAGGACTGAGACAAGTTCCTTGGGTCCTTCTTTTGGGATCCCTATGATGCAGCAGATGAGCTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAA... |
Task1_train_1178 | This mutation is located in gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | CTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGC... | CTGTGATTCAAAGAGAGAAAATATTGCTTGAGAAATATAAAGATACATGCTTTAGAATATAAAAAAGAGCAGGGATCGGGTGTTCTTGGCCTAGAACCATTTATAAACCAGACTGTGATAGGTGCTGTGGCAAAATCTAGTTGCTCCCATTATTTGCTCCTCCCTGCTGCCTTAGCCATAGCCTTTTTTGTTGGGTTTGTAAGTGGAAGTACTATGTGGGAACTTCAGAAAACCTTCCCTAAACATAGCACATGTGCACACTCTGCCCTCTGTTTTGCTTCATCCTTCTTCCATTCCGCTGCCTGGAAGGCAGCTCCTGC... |
Task1_train_1179 | This mutation occurs in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Retinitis pigmentosa | AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATG... | AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATG... |
Task1_train_1180 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATG... | AATGTCCCTGCAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATG... |
Task1_train_1181 | Given a variant located on Chromosome 1 and affecting ABCA4 (ATP binding cassette subfamily A member 4), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Retinal dystrophy | CAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCC... | CAAAAGATGGATGCTGGCTGTGCATGTATTTGTGTACATACCTGCAGATGTTAGAGACACAGCACATGGAGAGCTTCTTAATTAAGACTGTTAATAAGTGTGTAAACACATTTCCATTTGAATGTACATCATAGCATTGCTTATAATGGTGAAAACTAAAAAACCTAAGTGGCGAATAATGGGAGATCAGTTAATTTAAAGTAACTTTAGGCCAGGAGCAGTGGCTGACGCTTGTAATCCTAGCACTCTGGTAGGCAGAAGTGGGTAGATCACTTGAGGCCAGGAGTTCAACACCAGCCTGGCCAACATGGTAAAACCCC... |
Task1_train_1182 | Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | TGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTC... | TGTCTATTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTC... |
Task1_train_1183 | This variant affects gene ABCA4 (ATP binding cassette subfamily A member 4) located on Chromosome 1. Evaluate its biological effect and specify any disease association. | Pathogenic; Severe early-childhood-onset retinal dystrophy | TTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAG... | TTTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAG... |
Task1_train_1184 | A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | TTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGG... | TTATTGACATGGATGCATGTTCCTAGTAAATTATGCAGTAAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGG... |
Task1_train_1185 | Consider this mutation in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | AAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAG... | AAATCAGATTTTAAGACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAG... |
Task1_train_1186 | A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGT... | GACAATATTTGGAATATAATCTGTTTGGGTGGCTGCAAACCAAACATTATCTGTGTTTATATCCAAGCGATGATTTTTTTTCCTTCTGACTTACCTGTGTTTTCTAATTTTTCTATAATGAGCACATATGACTTAATTTTTTTTAGTGCTTAAACACATTTTTTCTACTAGATCAAATAGGAAGTATCTGGTGGAAAATGAAGCTTTTGGTGAGTGGCTTCCTCCAGTTGGCAGCCACAGCGCCCTGTGGGGAGCCCCTCCCAGAGGGTGCAGGGAGTTTGGTTTAGTCCCCTACTCAACTGCCAGTTTGAAATGTTAGT... |
Task1_train_1187 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | TCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACT... | TCTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACT... |
Task1_train_1188 | A variant has been detected on Chromosome 1 in ABCA4 (ATP binding cassette subfamily A member 4). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Stargardt disease | CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTG... | CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTG... |
Task1_train_1189 | This variant lies on Chromosome 1 and affects the gene ABCA4 (ATP binding cassette subfamily A member 4). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Retinal dystrophy | CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTG... | CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTG... |
Task1_train_1190 | Here is a variant affecting ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; not provided | CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTG... | CTTGGAGGCTGGTTTCTGCTCAAGCAATATCAAAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTG... |
Task1_train_1191 | A mutation on Chromosome 1 affecting ABCA4 (ATP binding cassette subfamily A member 4) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinitis pigmentosa | AAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACAC... | AAACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACAC... |
Task1_train_1192 | The gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Retinitis pigmentosa | AACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACA... | AACTAGGGTTTTGTGACTGACTAGGTGTGGGGCTGGGGAATAACCATCTCTAGCTTGTGGATCGTTTTGTCTCCCTTTTTATTCCTAGCAGCTCTAGCTGTTGAGAGACACAGCAACCAGAAGAGGAATTTGAAATTAGTCTGTTTTGGTCCTTATTGACAGCTTTGAAAAAGACTGAGGGAGAAAAGTTAAAATTATATTGAACTTTTAGGATTCCTGGTGGATGTCAATGGCCTTCGCTAACTCCCTTCTCCAGACTCACAACTATCACAAAGTACTGGCCACTGTGTCACTCACGCCATTCAAGGCCCAATCACACA... |
Task1_train_1193 | Assess the clinical impact of this variant on gene ABCA4, LOC126805794 (ATP binding cassette subfamily A member 4| BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | GAACATCCTGTTCTATGCCTATGCTGACTAAACAGTCCTCTGATGTGTAATTTATTCTCCTGAGAGGGCCTATTTATCAAGAAGGAATATTCTGCACAGGTAAAAGGCCCTAACTCTTGAATCCAGCAAAGCTTCTGATATAAATTAGCATATTTTCATTCTGGTCTTGGTTAATATGAGTCTTTGACATTGGGTGAGCTGAGATTATTCAATTTCTGTGTCAGCAGAGCTTGAAAGAAACTTGGGTTCTGTGGTGAATTGCTGCTGTCCCCTGGAGAGGACTGCTTCCTGCCCCACACCCACTGTGCCAGGACGACTAC... | GAACATCCTGTTCTATGCCTATGCTGACTAAACAGTCCTCTGATGTGTAATTTATTCTCCTGAGAGGGCCTATTTATCAAGAAGGAATATTCTGCACAGGTAAAAGGCCCTAACTCTTGAATCCAGCAAAGCTTCTGATATAAATTAGCATATTTTCATTCTGGTCTTGGTTAATATGAGTCTTTGACATTGGGTGAGCTGAGATTATTCAATTTCTGTGTCAGCAGAGCTTGAAAGAAACTTGGGTTCTGTGGTGAATTGCTGCTGTCCCCTGGAGAGGACTGCTTCCTGCCCCACACCCACTGTGCCAGGACGACTAC... |
Task1_train_1194 | A variant found in Chromosome 1 affects ABCA4 (ATP binding cassette subfamily A member 4). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | ATCAGACAACGCAAATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGA... | ATCAGACAACGCAAATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGA... |
Task1_train_1195 | Gene ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; not provided | AATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAA... | AATATTGCCCGGTTCTCTTGCTTCACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAA... |
Task1_train_1196 | Given this context: Chromosome 1, gene ABCA4 (ATP binding cassette subfamily A member 4) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGA... | CACCAGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGA... |
Task1_train_1197 | A variant was discovered on Chromosome 1, affecting ABCA4 (ATP binding cassette subfamily A member 4). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; not provided | AGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTG... | AGATTTCAGTTAGTAAATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTG... |
Task1_train_1198 | This gene mutation involves ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is it associated with any clinical condition, or is it benign? | Pathogenic; Retinal dystrophy | ATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAA... | ATTCTTAACATTTGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAA... |
Task1_train_1199 | A genetic alteration is present in ABCA4 (ATP binding cassette subfamily A member 4) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; not provided | TGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCA... | TGAAAAAGTTTGTGCTAAATAGAAAAATATGCCTTTTCTTTGATAAGCAGATACTTTCCCCATTCATTAACCTGCATCAGTACGTAAGTTTAGTTTTGCTCCTGTGTGGGAATACGCTTCTCACACATTCTCTCACATAGAGAGGGGATAGCCTCTCCACTGCAGCTCCTTGGAGATGGGGGCACCCCTGAGAGCTTCAGTGCATCCTAATTAAAGGGAGAATCACTGGGAAATTGGGAAGCTGAGGGGAGAATCAGGAGTATAACAGGGGTGTATGCTATTTCCAGACTTGCCATCCACATGTGCAATCTCTGACTCCA... |
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