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_23600 | This mutation is located in gene TP53 (tumor protein p53) on Chromosome 17. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Hereditary cancer-predisposing syndrome | TAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGA... | TAGATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGA... |
Task1_train_23601 | Consider this mutation in TP53 (tumor protein p53) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Hereditary cancer-predisposing syndrome | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23602 | This variant affects gene TP53 (tumor protein p53) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Adrenocortical carcinoma, hereditary | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23603 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Familial cancer of breast | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23604 | This variant lies on Chromosome 17 and affects the gene TP53 (tumor protein p53). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Glioma susceptibility 1 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23605 | Here is a genetic alteration in TP53 (tumor protein p53) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Bone marrow failure syndrome 5 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23606 | A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Hepatocellular carcinoma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23607 | This mutation occurs in TP53 (tumor protein p53) on Chromosome 17. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Colorectal cancer | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23608 | A variant affecting Chromosome 17, within the gene TP53 (tumor protein p53), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Carcinoma of pancreas | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23609 | The variant affects gene TP53 (tumor protein p53), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Choroid plexus papilloma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23610 | The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Basal cell carcinoma, susceptibility to, 7 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23611 | Given this context: Chromosome 17, gene TP53 (tumor protein p53) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Bone osteosarcoma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23612 | An alteration has been detected in TP53 (tumor protein p53) on Chromosome 17. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Li-Fraumeni syndrome 1 | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23613 | A sequence alteration has been identified in TP53 (tumor protein p53) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Nasopharyngeal carcinoma | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23614 | The gene TP53 (tumor protein p53), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Hereditary cancer-predisposing syndrome | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... | GATTAGGTGTATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACT... |
Task1_train_23615 | Here is a variant affecting TP53 (tumor protein p53) on Chromosome 17. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Li-Fraumeni syndrome | TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTT... | TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTT... |
Task1_train_23616 | Here is a mutation in TP53 (tumor protein p53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Li-Fraumeni syndrome 1 | TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTT... | TATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTT... |
Task1_train_23617 | This variant impacts the gene TP53 (tumor protein p53) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Li-Fraumeni syndrome 1 | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... |
Task1_train_23618 | The gene TP53 (tumor protein p53) on Chromosome 17 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Li-Fraumeni syndrome | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... |
Task1_train_23619 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Hereditary cancer-predisposing syndrome | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... |
Task1_train_23620 | A mutation found in TP53 (tumor protein p53) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Neoplasm | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... | ATTAAATCCATTTTCAACTTACAATATTTTCAACTTACGACGAGTTTATCAGGAAGTAACACCATCGTAAGTCAAGTAGCATCTGTATCAGGCAAAGTCATAGAACCATTTTCATGCTCTCTTTAACAATTTTCTTTTTGAAAGCTGGTCTGGTCCTTTAAAATATATATTATGGTATAAGTTGGTGTTCTGAAGTTAGTTAGCTACAACCAGGAGCCATTGTCTTTGAGGCATCACTGCCCCCTGATGGCAAATGCCCCAATTGCAGGTAAAACAGTCAAGAAGAAAACGGCATTTTGAGTGTTAGACTGGAAACTTTC... |
Task1_train_23621 | A variant has been detected on Chromosome 17 in TP53 (tumor protein p53). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Adrenocortical carcinoma, hereditary | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... |
Task1_train_23622 | Given a variant located on Chromosome 17 and affecting TP53 (tumor protein p53), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Hereditary cancer-predisposing syndrome | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... |
Task1_train_23623 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Li-Fraumeni syndrome 1 | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... |
Task1_train_23624 | A variant was discovered in gene TP53 (tumor protein p53), Chromosome 17. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Li-Fraumeni syndrome | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... |
Task1_train_23625 | This variant affects the gene TP53 (tumor protein p53) found on Chromosome 17. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Familial cancer of breast | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... | TAAGAGGTCCCAAAGCCAGAGAAAAGAAAACTGAGTGGGAGCAGTAAGGAGATTCCCCGCCGGGGATGTGATGAGAGGTGGATGGGTAGTAGTATGGAAGAAATCGGTAAGAGGTGGGCCCAGGGGTCAGAGGCAAGCAGAGGCTGGGGCACAGCAGGCCAGTGTGCAGGGTGGCAAGTGGCTCCTGACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCA... |
Task1_train_23626 | Located on Chromosome 17, this mutation impacts TP53 (tumor protein p53). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Li-Fraumeni syndrome | CCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTG... | CCTCCGGTTCATGCCGCCCATGCAGGAACTGTTACACATGTAGTTGTAGTGGATGGTGGTACAGTCAGAGCCAACCTAGGAGATAACACAGGCCCAAGATGAGGCCAGTGCGCCTTGGGGAGACCTGTGGCAAGCAGGGGAGGCCTTTTTTTTTTTTTTTTGAGATGGAATCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCACTGCAAGCTCCACCGCCCAGGTTCACGCCATTCTCCTTCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCAGCACCACGCCCGGCTAATTTTTTTTTG... |
Task1_train_23627 | A mutation on Chromosome 17 affecting WRAP53 (WD repeat containing antisense to TP53) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Dyskeratosis congenita, autosomal recessive 3 | GGTGAAACCCTGTCTCTATTAAAAAAAAAAACAAAAACAAAATTAGCCAGGCATGGTGGTGCATGCTCTGTCTCAAAATAATAAAAAAAAAAAAGTATGAATCTATATGGCTTTTGGTGGCTAAATTTGACATTAAAGTCTGAGCTCACCCTTGAACATTGAGACAGAGTCTGTGCTCCATATATACACCCCATCTGCCACAACACTGCTAGAGGCACGCGCCTCAGACTCCTTTTCCCTCCGAGTGACTCAGCCATTCCCCCGTCTCTGTATAGGTCCCTGTCCTTCGAATGGTGGAAGGTGATACCATCTATGATTAC... | GGTGAAACCCTGTCTCTATTAAAAAAAAAAACAAAAACAAAATTAGCCAGGCATGGTGGTGCATGCTCTGTCTCAAAATAATAAAAAAAAAAAAGTATGAATCTATATGGCTTTTGGTGGCTAAATTTGACATTAAAGTCTGAGCTCACCCTTGAACATTGAGACAGAGTCTGTGCTCCATATATACACCCCATCTGCCACAACACTGCTAGAGGCACGCGCCTCAGACTCCTTTTCCCTCCGAGTGACTCAGCCATTCCCCCGTCTCTGTATAGGTCCCTGTCCTTCGAATGGTGGAAGGTGATACCATCTATGATTAC... |
Task1_train_23628 | Here is a mutation in WRAP53 (WD repeat containing antisense to TP53) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; not provided | TTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGT... | TTTTTTTTTTTTTAGATTGAGTCTCCCTCTGTCACCCAGGCTGGAGGGCGGTGATGCAGTCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTGAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCACCACACCCAGCTAATTGTGTATTTTTCATAGAGATGGGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTGAAGTGCTTGGATTACAGGCATGAGCCACCACACCCAGCCTCATTTTTGTATTTTTAGTAGAGACAGGGT... |
Task1_train_23629 | Gene DNAH2 (dynein axonemal heavy chain 2), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Spermatogenic failure 45 | TCGTCATCACCCCCCTGACGGACAGGTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAGGTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAGGTCAGT... | TCGTCATCACCCCCCTGACGGACAGGTCTGCCATGTGGGATGAATGAGGTGGCTGGGGTGGGGGGCAGCAGAAGCTGAGAGAGGCTTCCAGGAGTCTGACTCTAGTTCTGTCCTCAATTCTCAGGTGTTACATGACACTGACCACGGCATTGCACCTGCACCGAGGGGGCTCCCCCAAAGGCCCTGCAGGCACAGGCAAGACCGAGACCGTCAAGGACCTGGGCAAGGCCCTGGGCATATATGTCATTGTGGTCAACTGCTCTGAGGGCCTGGACTACAAGTCCATGGGCCGAATGTACTCAGGTCTGGCCCAGGTCAGT... |
Task1_train_23630 | Given this variant in gene DNAH2 (dynein axonemal heavy chain 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 45 | CACCAAGTGTATCACATTATCTGTGGTCCTAGGTATCTTAATTCACAACCCATCCTCAAGCGCTCTCCACCCACGGGCCTGTGTCTGCTTTGCATAGTAAAGCAGACTATCCCTTTGCCAGGGATGGTTTGAAGGATGCCGAGTTTGCTGTCTGTGGTCTCCAAGAGGCCTGAGAGAGGTGGGATGGCCCCATGTGCTCCATGCGCCCAGTCAGAAGAAAGATATCTGTCACGTGCCCTCTGGGCAGGGGGTTGAGAGCATGGGCTCTAAATATGCTCTTTCCATTATTAAGTTGGTACATTTTACATTTTATCTTTTTG... | CACCAAGTGTATCACATTATCTGTGGTCCTAGGTATCTTAATTCACAACCCATCCTCAAGCGCTCTCCACCCACGGGCCTGTGTCTGCTTTGCATAGTAAAGCAGACTATCCCTTTGCCAGGGATGGTTTGAAGGATGCCGAGTTTGCTGTCTGTGGTCTCCAAGAGGCCTGAGAGAGGTGGGATGGCCCCATGTGCTCCATGCGCCCAGTCAGAAGAAAGATATCTGTCACGTGCCCTCTGGGCAGGGGGTTGAGAGCATGGGCTCTAAATATGCTCTTTCCATTATTAAGTTGGTACATTTTACATTTTATCTTTTTG... |
Task1_train_23631 | The gene DNAH2 (dynein axonemal heavy chain 2) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Spermatogenic failure 45 | CGGAAGGCTGGCTGTACTTCACTTCTGACACCAGATGTGGTGGGGATTTTCCCCACCCAAGCAGTTCTCCAGGGGACACTGGCTGGGTGTCCTATGATATAACTCAAGTCTGAAATGGTCTACCTGGAGTTAGAGTCAGATCGCACAGGTGGAGGGCTCAGTCCCACAATACACCCGCCGCTTCTGATGCTAACCGAAAGCCCAGTGTTTTACCTGTGTTTCTGCCTGGCCGGTTATAAATCAAGGGTTCCCACCACCCCCTTGTCAGGTTCAGTTAATTTGCTAGAGTGGCTCACAGAACTCAGGAAACACTTCACCTA... | CGGAAGGCTGGCTGTACTTCACTTCTGACACCAGATGTGGTGGGGATTTTCCCCACCCAAGCAGTTCTCCAGGGGACACTGGCTGGGTGTCCTATGATATAACTCAAGTCTGAAATGGTCTACCTGGAGTTAGAGTCAGATCGCACAGGTGGAGGGCTCAGTCCCACAATACACCCGCCGCTTCTGATGCTAACCGAAAGCCCAGTGTTTTACCTGTGTTTCTGCCTGGCCGGTTATAAATCAAGGGTTCCCACCACCCCCTTGTCAGGTTCAGTTAATTTGCTAGAGTGGCTCACAGAACTCAGGAAACACTTCACCTA... |
Task1_train_23632 | Given this variant in gene DNAH2 (dynein axonemal heavy chain 2) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Spermatogenic failure 45 | AGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTT... | AGTAGCTGGGACTACAGGCCTGCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGTAGAGGCGGGGTCCCACCATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCCTGAGAGGTCCTTTTAAAGTGGATGCCATTGTGACGGGCTCCCCATGGCTGGCGCCACCTCCCACCACACAGCCCCCACTCCACTCCAGCCACGCAGGCCTCATTGCCCTCCCCAAACCCCCTGGCACGTCTCGCCTCAGGGCCTTT... |
Task1_train_23633 | This alteration in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Snijders Blok-Campeau syndrome | CCTGCCCCACAGTGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCGGTGAGGGAATGAGCTTGTGGATTCAAGGGATTCTGACGATGAGGGCATGAAAGCCAAAACTCCAGCATAAAATGAGGGTACAGTAGGGCCTGATTCAACCTGGAGTTCAGGGCAATGGCCACCTGAGCTGGGTTGTTTGAGATAGGCTTGCTAAAGAGGTAGTGTAAGGAACAGAA... | CCTGCCCCACAGTGTGGATAAAAAGGGGAATTACCACTATCTAGTAAAATGGAGGGACTTACCATATGACCAGTCCACGTGGGAGGAAGATGAAATGAATATCCCTGAATACGAAGAACATAAGCAAAGCTACTGGAGACACCGGTGAGGGAATGAGCTTGTGGATTCAAGGGATTCTGACGATGAGGGCATGAAAGCCAAAACTCCAGCATAAAATGAGGGTACAGTAGGGCCTGATTCAACCTGGAGTTCAGGGCAATGGCCACCTGAGCTGGGTTGTTTGAGATAGGCTTGCTAAAGAGGTAGTGTAAGGAACAGAA... |
Task1_train_23634 | This alteration in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Snijders Blok-Campeau syndrome | AGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGT... | AGAGGATGTTCAAGAGTGGGGAGGGCTGGCTCTTGAGGTGAAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGT... |
Task1_train_23635 | This sequence change occurs on Chromosome 17, altering CHD3 (chromodomain helicase DNA binding protein 3). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Snijders Blok-Campeau syndrome | AAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACT... | AAATCCAAAGGGCAAGGGTAAAGAGCCTGGGAAAAAGGAAATATGGGAAAATCTAGGTCATGGACAGTGGGAAGTAGGTCTGGAATGGGTTCAGAAAAGAAAGCGTAGGACTCCCAAGGATGAGGCCTCATTCAGACCCACTCTTTTTCCAGAGAACTAATTATGGGGGAAGACCCTGCCCAGCCCCGCAAGTATAAGAAGAAGAAGAAGGAGCTACAGGGTGATGGGCCTCCCAGTTCTCCCACTAATGATGTGAGTCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACT... |
Task1_train_23636 | The gene CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Inborn genetic diseases | TCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATC... | TCCTCTCAGTTGTCATTTCTTGTTTCTGGAGTGATGGTGATCGAAGATTTTCCAAGGGCTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATC... |
Task1_train_23637 | A sequence alteration has been identified in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17. Is it disease-inducing or harmless? | Pathogenic; Snijders Blok-Campeau syndrome | CTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATT... | CTACTGATGGAACTTCCCAGAGATTCAGTAACCTCTGTGAACAGTAGCTCTTCCTTCAGCATCCAGTCTTGCCCCAAGAGTGGCTAAGAATTTTGGCCTGAAAGGGCAGGAGCCACTAGAGATAGCCCACTGGTGGCTCTGTCACCAGCTGGCCCTTCCCCATGGTGCTGCTGGATATTGTCTTAAGGAATGAGGGGGAGGGGCTGAAGACTAGATGTGAGAACTTTTGTAAACTCAGGCCATAGTAGAGGGAATTGTAATCCAACTTGGTATCCATGCCAGGGAGGAAGAGACTAAGACTGGAGGAGCCGCCGACTATT... |
Task1_train_23638 | This sequence variant lies in CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Snijders Blok-Campeau syndrome | TATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTC... | TATGGTAGATACACAGAGCAGGGAGCTGATCGAACGCCCATTCTCAGAAAACATGGGTGGGGAGTAGTGGGGAGGTGGGTATTGAGCCACAGGGGTGGAGCTGGGCTGGAAGGCCACGGACTGGGTGTCTGAGAACAGGAGGAATTGGGAACATGTGGAAGCTGGATCCGGGCATCTGGCCTTCTAGGTGTGGCAAGAATATGGGGGCATGTTTCCAACTGACCCCCTCCTCCTCCTCTCTCCTCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTC... |
Task1_train_23639 | Gene CHD3 (chromodomain helicase DNA binding protein 3) on Chromosome 17 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Snijders Blok-Campeau syndrome | TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCC... | TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCC... |
Task1_train_23640 | Located on Chromosome 17, this mutation impacts CHD3 (chromodomain helicase DNA binding protein 3). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCC... | TCCCTTTTCAGGAGTCCCCCAAACTCCCCAGTGGGGCTTATGAGGGTGGGGCACTTATTAAGTCGTCTGGGAAGCTCATGCTGCTCCAGAAGATGCTGCGAAAGCTGAAGGAGCAAGGACACCGAGTGCTCATCTTCTCGCAGGTGACCTGTGCCCTTAGCTGTCTTTACATCTGCTTCCTCTTCCCTCTCCTCATCCTCCAGACTTTAATTTCTTACGGTCTTCCTGTGGCTGCTCTGGTGTGACAAATGAGGAGATTCCTCCTGTAAGAGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTATTGCC... |
Task1_train_23641 | Given a variant located on Chromosome 17 and affecting CHD3 (chromodomain helicase DNA binding protein 3), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Snijders Blok-Campeau syndrome | GGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTT... | GGTTGAGTTTGTGTAAAGGAGTAGTTAGAATAAGCAAGCATCCCACCACCTCATTATTGCAGACTCCATCCTTTTCTCTTGCTCTAGATGACCAAAATGTTAGACTTGCTTGAGGACTTCTTAGACTATGAAGGCTACAAGTATGAGCGCATCGATGGTGGTATCACGGGTGCCCTGAGGCAGGAGGCCATCGATCGGTTTAATGGTGAGGGAGATACACTGGTCCCTGGTGGGTGTGGGAGGCCTGAGAAACCTGTGATAGGTCCCTGGGATGGGAGGGGGACTGGCTTGGGGGACATTGGAAACTTAGGCTTTGAGTT... |
Task1_train_23642 | A variant was discovered on Chromosome 17, affecting GUCY2D (guanylate cyclase 2D, retinal). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Leber congenital amaurosis 1 | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACAT... | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACAT... |
Task1_train_23643 | Consider this mutation in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is this a benign change or a disease-causing variant? | Pathogenic; Leber congenital amaurosis 1 | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACAT... | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACAT... |
Task1_train_23644 | The gene GUCY2D (guanylate cyclase 2D, retinal) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Cone-rod dystrophy 6 | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACAT... | TTAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACAT... |
Task1_train_23645 | The gene GUCY2D (guanylate cyclase 2D, retinal), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Leber congenital amaurosis 1 | TAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATT... | TAAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATT... |
Task1_train_23646 | The gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; GUCY2D-related recessive retinopathy | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTT... | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTT... |
Task1_train_23647 | A mutation found in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Leber congenital amaurosis 1 | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTT... | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTT... |
Task1_train_23648 | A mutation found in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Cone-rod dystrophy 6 | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTT... | AAATAGAACGTTTCTCATTTAGTGTTTATCTTATGTTTCCTTGTGATTAGATTTGAAATAATGCTGGAACATTGCCGAGACGTATTGTGCAGCACTGCATAGGTGTAGTATTATGTCCTTCTCAGGGTATCACATCTGGAGGCAAAGAATGTCTCTCTGCCCCTCATGGTTAATTTTGATCACTTGCTTAAAGTATTGCCCCATTTCTCCACTGTACAATGACTGCTTTTTATTTTATTCCCCACTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTT... |
Task1_train_23649 | A variant was discovered on Chromosome 17, affecting GUCY2D (guanylate cyclase 2D, retinal). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Night blindness, congenital stationary, type1i | CTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACAT... | CTCCCTTCCAACTCATGGCAATCTGGAGGGAGATACTTTCAGACCCTGCAAAAGTTCTGCTCCTCATCCAACATTTCCCCCAGCTTTAGAATCCACTGATGATTCTTACCTGATCCAATCTTTGCCACCAAGTCTGAAAATGATTCATTTAAAAGTTTTTAAGTTTTATTTTTCACATATAGGTCTTTGACCTGGAATAGATTTTGTGTATGGTGTGAGATAGGGATTGAATTCTATTTTCCCCCCAGATGGCTAATCAGCTCCATTTGTTGAAGTTTATTCTTTCCCAGTTGGTAAGAAATGTCCACGTCTTCACACAT... |
Task1_train_23650 | A variant affecting Chromosome 17, within the gene GUCY2D (guanylate cyclase 2D, retinal), has been observed. Determine if it's benign or associated with disease. | Pathogenic; GUCY2D-related recessive retinopathy | AGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTA... | AGAGTAGGCAATTCGACCTCTCAAGTCCAACATCAAGCAGTAAACTCTAATGAACTGTAAACTGCAAAACCTTTTGCAATTGGCTTCAAAGTAAACCCGTTTCCACCACCACATACTCCCAGCTGTCTAAAATAAATACTTGGTGTTCTTGAAAGCAGGAAGGAGGGAGGATGCCAATCCAACCTTCATCCCTAGTTCAGAGGTATTTCCTCTGGGGCCTCATCTGGTGGTCTTAGCTTTTCAAGGGCCTAGACACCTTGCAAGAAGCAGAAAGTTCCCTGGGTGGATTCAGGGGCAATCCTAACCAGATCCATAGTGTA... |
Task1_train_23651 | The gene GUCY2D (guanylate cyclase 2D, retinal) is located on Chromosome 17, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; GUCY2D-related recessive retinopathy | GGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCA... | GGACGACATCACCTTTCTCCACCCACATGGGGGCACCTCTCGAAAGGTGGGGGAGGCAGAGAGGCAGGAGCCAGTTGTCTTCTTTCCGTAAATTTGGTTCCTTCCCTGGGCCAGTCCCGACCCCAGCTCCCTACTTGGGAAGCCTGATTTCTACCCCAGTTCTGTCCCACGTCTGAAGTCTAGGGATCAGCACCCTCATCTGTGCAATGAGGGTAACAGTACCTGTCCTGACTACTTTCCTGGCGGGGAGGTGAAGCTCCAACAAGAAAATGAATGTTTGCTTTGTAAACTGTAAAGCGTGCACTTGGGGAGTAATGTCA... |
Task1_train_23652 | The variant affects gene GUCY2D (guanylate cyclase 2D, retinal), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Leber congenital amaurosis | TCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGC... | TCACAGATGCAGTGACTTAAGTGGACTATGTGTATGGGGATTAATGAACTCGATCACCATTTAATACCAGGTGTTTAAAATGAAAAGTATCTGGGCGCGGTGGCTCACACCTGTGATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTGTGGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTAAGC... |
Task1_train_23653 | Here’s a variant in GUCY2D (guanylate cyclase 2D, retinal) located on Chromosome 17. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; GUCY2D-related recessive retinopathy | GGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTT... | GGTCCTGATCACCAATGCAAAGTTGTCTTTTCATTCACAGCATTAGGCTAAACCATACTCAGTATCCAAACAGTGGCCTTTGACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTT... |
Task1_train_23654 | A mutation in GUCY2D (guanylate cyclase 2D, retinal), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Leber congenital amaurosis 1 | GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCT... | GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCT... |
Task1_train_23655 | This gene mutation involves GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Cone-rod dystrophy 6 | GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCT... | GACTATATTGTTTTTTCCAAAAATAGGACTATGTGTAGAAGAGAGCCCCCGTACATACCTTATCAACCATTTCATCCACCATTTGTAAAAATCTCATCTTCTGGGTCTGGATACTCAAAAACAGATCTTGATTAACAGCCCCTTCCCCACATTGCCCTGGGCAGAAAATGCAAGTCAACTCTCCCCCTCTCAGCTCCAGGAGCTCCGGCATGAGAACGTGGCCCTCTACCTGGGGCTTTTCCTGGCTCGGGGAGCAGAAGGCCCTGCGGCCCTCTGGGAGGGCAACCTGGCTGTGGTCTCAGAGCACTGCACGCGGGGCT... |
Task1_train_23656 | Consider a variant on Chromosome 17 in gene GUCY2D (guanylate cyclase 2D, retinal). Determine its clinical classification and disease relevance. | Pathogenic; Cone-rod dystrophy 6 | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGC... | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGC... |
Task1_train_23657 | Chromosome 17 houses a mutation in gene GUCY2D (guanylate cyclase 2D, retinal). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Leber congenital amaurosis 1 | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGC... | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGC... |
Task1_train_23658 | A change on Chromosome 17 affects gene GUCY2D (guanylate cyclase 2D, retinal). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Leber congenital amaurosis 1 | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGC... | TTTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGC... |
Task1_train_23659 | Gene GUCY2D (guanylate cyclase 2D, retinal), found on Chromosome 17, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Cone-rod dystrophy 6 | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... |
Task1_train_23660 | This variant impacts the gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Is the change likely to result in a pathogenic outcome? | Pathogenic; Leber congenital amaurosis 1 | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... |
Task1_train_23661 | A mutation on Chromosome 17 affecting GUCY2D (guanylate cyclase 2D, retinal) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Retinal dystrophy | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... |
Task1_train_23662 | Chromosome 17 houses a mutation in gene GUCY2D (guanylate cyclase 2D, retinal). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not specified | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... | TTCAAGGGCTTCTCCCCCGCTTCCTCCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCT... |
Task1_train_23663 | Gene GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Leber congenital amaurosis 1 | CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGAC... | CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGAC... |
Task1_train_23664 | Mutation context: Chromosome 17, Gene GUCY2D (guanylate cyclase 2D, retinal). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 6 | CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGAC... | CCCTACCTCTGCCCTCGCACTCTCTTCATCCCACATCCACCAGACACAATTCCTGCTACAGAAAAGATCTTGTGGCCTCTGAGAGGGTGGGCTCTGTGACTTCGGAGACGGGGCTGCTGGGGGCGGGACTTGTACCTGAGCTGCCTGCAGCAGGGTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGAC... |
Task1_train_23665 | This sequence change occurs on Chromosome 17, altering GUCY2D (guanylate cyclase 2D, retinal). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Cone-rod dystrophy 6 | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCG... | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCG... |
Task1_train_23666 | A change on Chromosome 17 affects gene GUCY2D (guanylate cyclase 2D, retinal). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 6 | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCG... | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCG... |
Task1_train_23667 | Consider a variant on Chromosome 17 in gene GUCY2D (guanylate cyclase 2D, retinal). Determine its clinical classification and disease relevance. | Pathogenic; Leber congenital amaurosis 1 | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCG... | GTTTGCTCTGATTACAAGTTTGCCTGAGGGTGGGGCTTGTGCCCAAGAGACGGAGCCTTCCCTGGGCACCACCTTTTCTGAAGGGCAAGGCCTATTTGCCAGGCTTTCTCTGAGATGGCTCCTAGAGATAGTTGCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCG... |
Task1_train_23668 | Here is a mutation in GUCY2D (guanylate cyclase 2D, retinal) on Chromosome 17. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Night blindness, congenital stationary, type1i | GCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCA... | GCAGGGCTGGTCTCAGGTTGCAGGGTCTCAGACCGGTCTCAGGCTGCAGGGTTGGTGGTGTCTGGGTGCCAACCTGGGCTTTCTGGTGAGGGTGGGAGTCTTTCCCCAGCGGCGCCTCAGCCCCTTCCCCATCCCCAGACCAGCTGTGGACAGCCCCGGAGCTGCTTAGGGACCCAGCCCTGGAGCGCCGGGGAACGCTGGCCGGCGACGTCTTTAGCTTGGCCATCATCATGCAAGAAGTAGTGTGCCGCAGTGCCCCTTATGCCATGCTGGAGCTCACTCCCGAGGGTAAGGCTGCCCTGTGCGTGGAGTTCGGCCCA... |
Task1_train_23669 | A variant affecting Chromosome 17, within the gene GUCY2D (guanylate cyclase 2D, retinal), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Cone-rod dystrophy 6 | CAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCC... | CAATTATACGGAGGCCCCCTTAAAGCTGGCATCTGCAGGTCTGGGTGCAGAAAGCCGTGCATGGCCAGGGTGGGGAGCGTGGTTCATTAGGTCCCAGACCACAACAGCTTCCTCTTTCTTGATGCTGGAACCAAACTGTTTCCACAACTGACAGAACAGACTCCTCTCTGTTCTCAGGGGTCCCTGGGAGGAGCAGGGGAGGGGGAGTGGGTGCATCCCTTCTGCACAGGACTCTGAGCAAACTACTTGATCACCTATCCCTCACTTGTCTTACATACAATATGTTAGTTTCTTTGCCTATGTCACCTCTTACTGACCCC... |
Task1_train_23670 | This variant lies on Chromosome 17 and affects the gene GUCY2D (guanylate cyclase 2D, retinal). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Congenital blindness | CAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTG... | CAGGCACCCCCTCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTG... |
Task1_train_23671 | This genomic variant is located on Chromosome 17, within the GUCY2D (guanylate cyclase 2D, retinal) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Leber congenital amaurosis 1 | TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCA... | TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCA... |
Task1_train_23672 | Mutation context: Chromosome 17, Gene GUCY2D (guanylate cyclase 2D, retinal). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Cone-rod dystrophy 6 | TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCA... | TCCCACATCTTGGTCTTCAACAGTCAGGCCAGGGTCAGAGGCAGCCTTTGTGTTCTGGGGGCACTCCCCCTCACTGTCCCCTCATGCCTCCAGAAGTGGTGCAGAGGGTGCGGAGCCCCCCTCCACTGTGTCGGCCCTTGGTGTCCATGGACCAGGCACCTGTCGAGTGTATCCTCCTGATGAAGCAGTGCTGGGCAGAGCAGCCGGAACTTCGGCCCTCCATGGACCACACCTTCGACCTGGTCAGGGGCTGGGAGTGGGCAAGGACTGGGCTGGCCTCTGGGATCCCAGATGCTTGTCAGCAACCTGAGACAGCTGCA... |
Task1_train_23673 | Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | CCCCTTGAAGACCTCAGGGACTCCCCCTATATGAACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATC... | CCCCTTGAAGACCTCAGGGACTCCCCCTATATGAACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATC... |
Task1_train_23674 | This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTA... | ACATCCACAGCAGGAGCTCCTTCCTCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTA... |
Task1_train_23675 | A mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATT... | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATT... |
Task1_train_23676 | This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATT... | TCAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATT... |
Task1_train_23677 | Here is a genetic alteration in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTC... | CAGCAGGGGTCTGCACATCCTACTATGGCTGGGGATGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTC... |
Task1_train_23678 | Given this variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTG... | TGGAGGGCCCTTTGGGAACCAGTGGATGAGATGAACCCAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTG... |
Task1_train_23679 | Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGG... | CAATCAGCCGGTCCTGAGGCAGATGGACCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGG... |
Task1_train_23680 | The variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), which is on Chromosome 17. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAG... | CCTGGTGTCTCATCCTTCCCTGTGGGTTGGAATCCAAATGCCTGCAGGACCAGTGAGCAGAGAAAAGCTAAGGAAGAAGAGTGGGCAGGGACCGTGGCCAGTGGGAAACTCATGTTTGTCTGATGGGGACAGTGGTGACCCAGCTATCACTGTGACCAGATCTTCTGATTTTTCAGCAGAAACCAGACATCTTCTAATATTTAAACGTTGGCAAGTGATTCAACTTGAAAAACAAACAGAAAAACCTTGCCAGCTGATCAAAACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAG... |
Task1_train_23681 | This sequence change occurs on Chromosome 17, altering ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGAT... | ACACATCTGCAGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGAT... |
Task1_train_23682 | A genomic change on Chromosome 17 affects ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | AGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAG... | AGATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAG... |
Task1_train_23683 | A mutation in ALOX12B (arachidonate 12-lipoxygenase, 12R type), located on Chromosome 17, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Ichthyosis | ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGG... | ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGG... |
Task1_train_23684 | Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; not specified | ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGG... | ATCAATCATGGCCTTCGGGCCTCTGTTTGCATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGG... |
Task1_train_23685 | Located on Chromosome 17, this mutation impacts ALOX12B (arachidonate 12-lipoxygenase, 12R type). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGC... | ATGGCATGGTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGC... |
Task1_train_23686 | This variant affects gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) located on Chromosome 17. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTG... | GTGAAGAGCACAGCCTCCCGGTTTGATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTG... |
Task1_train_23687 | Mutation context: Chromosome 17, Gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGT... | GATCTCGGCTCTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGT... |
Task1_train_23688 | This variant lies on Chromosome 17 and affects the gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTG... | CTGCAGTTCACTCTGTGGTTGGCCGTTTTCCTTCCTTGGCCTCAGTTTCCCCCTTTGTGGGCAGCAGGTCTCAGTGGCCCCTTCCAACCCATACCCCTGTGCAGTGTTGGCTCCCGGCTGTTAGTCACCGTGTATTCCCGACCCCCCAGCTTTGGGACCAATATTGTTAACATCTACTACCCGGACGATACGGCAGTGAGCAGGGACTCAGAGCTCCAGGCCTGGGTCAGGGAGATCTTCCAGGAGGGTTTTCCAAGCCAAATGCTCTCAGAGGTGGCGTCCACTGCCCCAGGGCAGCAGCCTCTTGGGTCTCAGCTCTG... |
Task1_train_23689 | This genomic variant is located on Chromosome 17, within the ALOX12B (arachidonate 12-lipoxygenase, 12R type) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCA... | CCGGTGTTTCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCA... |
Task1_train_23690 | Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAG... | TCACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAG... |
Task1_train_23691 | A mutation found in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | ACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGC... | ACGACGATCATCGTCACCTGCTCAGCCCAACATGCTGCCATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGC... |
Task1_train_23692 | Given a variant located on Chromosome 17 and affecting ALOX12B (arachidonate 12-lipoxygenase, 12R type), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Autosomal recessive congenital ichthyosis 2 | CATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGT... | CATCAACAGCGGCCAGGTGAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGT... |
Task1_train_23693 | Chromosome 17 houses a mutation in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | GAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGG... | GAGCCACTGCCAGACCAGGGGGACAAGCAGGGTCACGGGAGGAGCAGCCCTAGCAGCACTGGAAGCTCTGTACTGAGTTTGCGGGGGTCGGTCTGAATTCAGTGACTGGATCCCCAATATTCCTATCATCCTGTGGCTTGCCCTGCCCACCGCCAAGGGCCAGACAGAACAAGCAGCCTCACTCCCTGCGGTCGATGCCACACACCACCCCCTGCTGCTCCTGTGGGGGGTCAGCAATGGAACCAAGGCCACCATAAGCAAGGCCCAGGTGGGGATGGCTGGGGTCTCAGCTTCTAGAGAGTGGGAACATTGAGGAAGGG... |
Task1_train_23694 | Given this variant in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; not specified | TGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCAT... | TGGCTGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCAT... |
Task1_train_23695 | This gene mutation involves ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Is it associated with any clinical condition, or is it benign? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTG... | TGAGGCTGGGTTTGAGGTTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTG... |
Task1_train_23696 | The gene ALOX12B (arachidonate 12-lipoxygenase, 12R type), on Chromosome 17, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Autosomal recessive congenital ichthyosis 2 | TTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTA... | TTGGGGCATGGACGAAATTTAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTA... |
Task1_train_23697 | The following genetic variant occurs in ALOX12B (arachidonate 12-lipoxygenase, 12R type) on Chromosome 17. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | TAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCC... | TAGAAGGTCTGAGCCTCGGGCTGGGCCTGGGTTGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCC... |
Task1_train_23698 | Consider a variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine its clinical classification and disease relevance. | Pathogenic; Lamellar ichthyosis | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGG... | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGG... |
Task1_train_23699 | Consider a variant on Chromosome 17 in gene ALOX12B (arachidonate 12-lipoxygenase, 12R type). Determine its clinical classification and disease relevance. | Pathogenic; Ichthyosis | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGG... | TGGTGAGACCACCGGTACCTGGCCTGTGTTGACAGCAGCGTGCTTGGCAGAGCAGGTGTAGATGACTATAGTGACATATCGGATCAGCTCAGGCACGGTTCGCAAGCACCTAGGGAAGCCTGACCGGCGGGGGAAAAGCCCAGGCGACATCAGTCGTGCCCTGGTACTGGCTGCCCGGCAGAGGGCGCCACCATGCCCCGCTCTCACCGTTTTGCAAAAGCTTCAAGCTGCCGCATCCGTACCCTCATCCTGCCTGCGTGACCCTCCTATGGCAGCAACCCCATCTCCCCTCACCCAGATCATAAGGCTGGGGACGGAGG... |
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