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_30000 | An alteration has been detected in FGD1 (FYVE, RhoGEF and PH domain containing 1) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Aarskog syndrome | TTGACCAGCTCCACGGCCCGGTCAAAGTTCTTCACATACTCACCATACATCTTGAGGAAGGGGGCCAGTTTCTGCAGGATGTCTCCAATGCGTGGATAGCGGTCCCTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGC... | TTGACCAGCTCCACGGCCCGGTCAAAGTTCTTCACATACTCACCATACATCTTGAGGAAGGGGGCCAGTTTCTGCAGGATGTCTCCAATGCGTGGATAGCGGTCCCTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGC... |
Task1_train_30001 | A variant affecting Chromosome X, within the gene FGD1 (FYVE, RhoGEF and PH domain containing 1), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Neurodevelopmental delay | TGACCAGCTCCACGGCCCGGTCAAAGTTCTTCACATACTCACCATACATCTTGAGGAAGGGGGCCAGTTTCTGCAGGATGTCTCCAATGCGTGGATAGCGGTCCCTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGCC... | TGACCAGCTCCACGGCCCGGTCAAAGTTCTTCACATACTCACCATACATCTTGAGGAAGGGGGCCAGTTTCTGCAGGATGTCTCCAATGCGTGGATAGCGGTCCCTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGCC... |
Task1_train_30002 | Given this context: Chromosome X, gene FGD1 (FYVE, RhoGEF and PH domain containing 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; not provided | CTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGCCTCAATTCTGCCCTGCCCGAGTACTGGTTGAAGTACTCACCCTGAGACCTTACTGCCAGGACCACTTCATATACTGATTATCAACTGTGTGCTGGGTGATGCTGG... | CTGGGGTGGAATTAGGGGCTGATGTGGTCCTGCTGCTCTTTGCCCCTCAGAAACTTCCCCCACAAGTTTCCAGCCCCAGGCAGATACCTTTCATCTCAGTCCTAGAAACCTACTTCTCAGCTAGTCTGCTCCTTCAGAAATGCTGCTTACATTACAGGCCAGTGAGGCCAAGAGGCTCGGCTTGACTTCAGACCACAGCCTGGGATGCCACCTGCCTCAATTCTGCCCTGCCCGAGTACTGGTTGAAGTACTCACCCTGAGACCTTACTGCCAGGACCACTTCATATACTGATTATCAACTGTGTGCTGGGTGATGCTGG... |
Task1_train_30003 | With a mutation on Chromosome X in gene ALAS2 (5'-aminolevulinate synthase 2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; X-linked sideroblastic anemia 1 | AGGCCAAGACTTCAGAAGCCAAAGATGAGAAGGAGTTACGGACCTCATTCTGGAAGTCTGTGCTGGCGGGGCCCTTGCGCACACCCCTCTGTGGGGGCCACAGGGAGCCATGTGTGATGCGTACTGTGAAGAAGCCAGGACCCAACTTGGGCCGCCGCTTCTACATGTGTGCCAGGCCCCGGGGTCCTCCCACTGACCCCTCCTCCCGGTGCAACTTCTTCCTCTGGAGCAGGCCCAGCTGAACCAATGGAGGCCTGGGGACATCTGGCATGGTCACCCCTGCACATGATCTGAGGCCAGCTCCCCTTCCCTGAGCTGCC... | AGGCCAAGACTTCAGAAGCCAAAGATGAGAAGGAGTTACGGACCTCATTCTGGAAGTCTGTGCTGGCGGGGCCCTTGCGCACACCCCTCTGTGGGGGCCACAGGGAGCCATGTGTGATGCGTACTGTGAAGAAGCCAGGACCCAACTTGGGCCGCCGCTTCTACATGTGTGCCAGGCCCCGGGGTCCTCCCACTGACCCCTCCTCCCGGTGCAACTTCTTCCTCTGGAGCAGGCCCAGCTGAACCAATGGAGGCCTGGGGACATCTGGCATGGTCACCCCTGCACATGATCTGAGGCCAGCTCCCCTTCCCTGAGCTGCC... |
Task1_train_30004 | The gene ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | CCAAGACTTCAGAAGCCAAAGATGAGAAGGAGTTACGGACCTCATTCTGGAAGTCTGTGCTGGCGGGGCCCTTGCGCACACCCCTCTGTGGGGGCCACAGGGAGCCATGTGTGATGCGTACTGTGAAGAAGCCAGGACCCAACTTGGGCCGCCGCTTCTACATGTGTGCCAGGCCCCGGGGTCCTCCCACTGACCCCTCCTCCCGGTGCAACTTCTTCCTCTGGAGCAGGCCCAGCTGAACCAATGGAGGCCTGGGGACATCTGGCATGGTCACCCCTGCACATGATCTGAGGCCAGCTCCCCTTCCCTGAGCTGCCTCC... | CCAAGACTTCAGAAGCCAAAGATGAGAAGGAGTTACGGACCTCATTCTGGAAGTCTGTGCTGGCGGGGCCCTTGCGCACACCCCTCTGTGGGGGCCACAGGGAGCCATGTGTGATGCGTACTGTGAAGAAGCCAGGACCCAACTTGGGCCGCCGCTTCTACATGTGTGCCAGGCCCCGGGGTCCTCCCACTGACCCCTCCTCCCGGTGCAACTTCTTCCTCTGGAGCAGGCCCAGCTGAACCAATGGAGGCCTGGGGACATCTGGCATGGTCACCCCTGCACATGATCTGAGGCCAGCTCCCCTTCCCTGAGCTGCCTCC... |
Task1_train_30005 | This variant impacts the gene ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; X-linked sideroblastic anemia 1 | GAGCAATATAGTCAGAATTTTAGAAAAATCCCTCTAGTGGTCATCATCGAGAAAGGATTTGAGAGGAGCAAGAGAGAAGCAGAGAAATTAGGAAAAAAATCATGTTGACATGGATTAAAGAAGTGGCAGGGGAGAAAAGCAAATAGGTTTGAGAGAGATTATAGATAACTTTTGCAGGATTTCAGGATGGATTGGCTATGGAACTTAGGGACTGGTGGAGCCATCGTGGATGCCTCATATATTCTTACAAAAGCCTAGCCTAGGTGGACATTCAGAGAACCAAGAATACTGAGAGCTCTACAATTGAAGCCCAGAGCAAA... | GAGCAATATAGTCAGAATTTTAGAAAAATCCCTCTAGTGGTCATCATCGAGAAAGGATTTGAGAGGAGCAAGAGAGAAGCAGAGAAATTAGGAAAAAAATCATGTTGACATGGATTAAAGAAGTGGCAGGGGAGAAAAGCAAATAGGTTTGAGAGAGATTATAGATAACTTTTGCAGGATTTCAGGATGGATTGGCTATGGAACTTAGGGACTGGTGGAGCCATCGTGGATGCCTCATATATTCTTACAAAAGCCTAGCCTAGGTGGACATTCAGAGAACCAAGAATACTGAGAGCTCTACAATTGAAGCCCAGAGCAAA... |
Task1_train_30006 | This variant affects the gene ALAS2 (5'-aminolevulinate synthase 2) found on Chromosome X. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; X-linked sideroblastic anemia 1 | CCAGGACCCGGGAGGCAGAGGTAGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCTACAGAGCCAGACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTC... | CCAGGACCCGGGAGGCAGAGGTAGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCTACAGAGCCAGACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTC... |
Task1_train_30007 | Gene ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not provided | AGACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCT... | AGACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCT... |
Task1_train_30008 | A mutation in ALAS2 (5'-aminolevulinate synthase 2), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; not provided | GACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTT... | GACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTT... |
Task1_train_30009 | The following genetic variant occurs in ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | GACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTT... | GACTCTGTCTCAAAAAAACAAAAACAAAAACAAACAAACAAAAACAAAACTACCCAACAGAAATCCAACAAACATTAGGTGAATTGACTAAACTGGCATTTTCAGGGTAAATCTCAAACTACTCAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTT... |
Task1_train_30010 | This is a variant in ALAS2 (5'-aminolevulinate synthase 2), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; not provided | CAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTTCCATGCCCTCTTTCTTTTAATACCACTCACTTTGCAAGACTCAGCTCAGGTGTCACCTCTACTAGGAAGTGGGTCTTGCATCCCTCAGGCTGAGTCAGGCCCCTCCTCTCTGCTCCGACAACT... | CAGCTCTACAAGCCTCTCAATCCAGTCTCTATCTCATGTTGTCTTTGTAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTTCCATGCCCTCTTTCTTTTAATACCACTCACTTTGCAAGACTCAGCTCAGGTGTCACCTCTACTAGGAAGTGGGTCTTGCATCCCTCAGGCTGAGTCAGGCCCCTCCTCTCTGCTCCGACAACT... |
Task1_train_30011 | A change on Chromosome X affects gene ALAS2 (5'-aminolevulinate synthase 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; X-linked sideroblastic anemia 1 | TAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTTCCATGCCCTCTTTCTTTTAATACCACTCACTTTGCAAGACTCAGCTCAGGTGTCACCTCTACTAGGAAGTGGGTCTTGCATCCCTCAGGCTGAGTCAGGCCCCTCCTCTCTGCTCCGACAACTCTATCATGCACTGCCTTGTGGAGCTTTGATCATCCCTTAGTGTCATT... | TAGACTCATAGATTGATACTCCCCTGCCCCACTCCATTCCTATGACCCTACATTCCAATACCACCTGCTTATTGTTCTTGATATATCCCTGGCTGCTTCTCATTCTCCTCACCTATCTTCATGCTCTTCCCTCTGGTAGGAATACTTCTTCCATGCCCTCTTTCTTTTAATACCACTCACTTTGCAAGACTCAGCTCAGGTGTCACCTCTACTAGGAAGTGGGTCTTGCATCCCTCAGGCTGAGTCAGGCCCCTCCTCTCTGCTCCGACAACTCTATCATGCACTGCCTTGTGGAGCTTTGATCATCCCTTAGTGTCATT... |
Task1_train_30012 | Here is a variant affecting ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked sideroblastic anemia 1 | GCGCAGGAGCTCTTCACCCCGGGGGACAGTTGGGTAGTTGATGGCCTGCACATAGATGCCATGCTTGGAGAGCAGGAGATCACAGAGCTTGCTGTTGAGTGCTGCATTGCCCACCTGGACTCAGGAGAAAGGCTAATCAGTACCTGCCACTCTGGCTCCACCATCACTAGCTCCATTAAGCAGATGGAGGGAACTAGATGAGGGAACATCACTGAATTTTGGGATAGATTTTTTTTTTCCATTAGGGGCTTAGTGGCAGCTCCAGAATTTCTATCAAGGAGGAGCTCAGAGCTAGCAATTTGGTTTGAAAAGGATGGAGC... | GCGCAGGAGCTCTTCACCCCGGGGGACAGTTGGGTAGTTGATGGCCTGCACATAGATGCCATGCTTGGAGAGCAGGAGATCACAGAGCTTGCTGTTGAGTGCTGCATTGCCCACCTGGACTCAGGAGAAAGGCTAATCAGTACCTGCCACTCTGGCTCCACCATCACTAGCTCCATTAAGCAGATGGAGGGAACTAGATGAGGGAACATCACTGAATTTTGGGATAGATTTTTTTTTTCCATTAGGGGCTTAGTGGCAGCTCCAGAATTTCTATCAAGGAGGAGCTCAGAGCTAGCAATTTGGTTTGAAAAGGATGGAGC... |
Task1_train_30013 | Here is a genetic alteration in ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Sideroblastic anemia 1, late-onset | GGTATATAAGAAGGCCCAAAGCATTCACTTACCAAGAGTTCCAGAGATGATGTCAATCTTATGCATAATTCCATCACGCTCCCCAATCCCAGCGCCCCGGGACCCATACAGTCCTACAGCATGGACCTCATCCACGAAGGTCAGGGCCCCATACTGGTGGGACACATCACACAACTCCTCGAGGGGACAGATGGCACCTGAGCAAAGCCAAGGGATAGAGGTAGGACATCATAACCCTTCCCCAGCTCCATCTCCAATGTGGAATTTCCCATACATGCCTACTTTGGGTTGGAAAAGGGTGTTGTAGAGAGGAAGGAGGA... | GGTATATAAGAAGGCCCAAAGCATTCACTTACCAAGAGTTCCAGAGATGATGTCAATCTTATGCATAATTCCATCACGCTCCCCAATCCCAGCGCCCCGGGACCCATACAGTCCTACAGCATGGACCTCATCCACGAAGGTCAGGGCCCCATACTGGTGGGACACATCACACAACTCCTCGAGGGGACAGATGGCACCTGAGCAAAGCCAAGGGATAGAGGTAGGACATCATAACCCTTCCCCAGCTCCATCTCCAATGTGGAATTTCCCATACATGCCTACTTTGGGTTGGAAAAGGGTGTTGTAGAGAGGAAGGAGGA... |
Task1_train_30014 | A variant has been detected on Chromosome X in ALAS2 (5'-aminolevulinate synthase 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; X-linked sideroblastic anemia 1 | TCACTTACCAAGAGTTCCAGAGATGATGTCAATCTTATGCATAATTCCATCACGCTCCCCAATCCCAGCGCCCCGGGACCCATACAGTCCTACAGCATGGACCTCATCCACGAAGGTCAGGGCCCCATACTGGTGGGACACATCACACAACTCCTCGAGGGGACAGATGGCACCTGAGCAAAGCCAAGGGATAGAGGTAGGACATCATAACCCTTCCCCAGCTCCATCTCCAATGTGGAATTTCCCATACATGCCTACTTTGGGTTGGAAAAGGGTGTTGTAGAGAGGAAGGAGGATGTGCGCCTTCATTTAGAACTATT... | TCACTTACCAAGAGTTCCAGAGATGATGTCAATCTTATGCATAATTCCATCACGCTCCCCAATCCCAGCGCCCCGGGACCCATACAGTCCTACAGCATGGACCTCATCCACGAAGGTCAGGGCCCCATACTGGTGGGACACATCACACAACTCCTCGAGGGGACAGATGGCACCTGAGCAAAGCCAAGGGATAGAGGTAGGACATCATAACCCTTCCCCAGCTCCATCTCCAATGTGGAATTTCCCATACATGCCTACTTTGGGTTGGAAAAGGGTGTTGTAGAGAGGAAGGAGGATGTGCGCCTTCATTTAGAACTATT... |
Task1_train_30015 | A variant found in Chromosome X affects ALAS2 (5'-aminolevulinate synthase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; not provided | CTGAAGAATCAGCAGGAGGTGAGGAAGTAGATAGTAAGAGCGAAGACTTCTCTCAAGCAGTTTGCCTGTTATAGGGAGGAAAGAGGGCAGTAGCTAGAGAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAG... | CTGAAGAATCAGCAGGAGGTGAGGAAGTAGATAGTAAGAGCGAAGACTTCTCTCAAGCAGTTTGCCTGTTATAGGGAGGAAAGAGGGCAGTAGCTAGAGAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAG... |
Task1_train_30016 | A variant found in Chromosome X affects ALAS2 (5'-aminolevulinate synthase 2). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; X-linked sideroblastic anemia 1 | GCAGGAGGTGAGGAAGTAGATAGTAAGAGCGAAGACTTCTCTCAAGCAGTTTGCCTGTTATAGGGAGGAAAGAGGGCAGTAGCTAGAGAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGA... | GCAGGAGGTGAGGAAGTAGATAGTAAGAGCGAAGACTTCTCTCAAGCAGTTTGCCTGTTATAGGGAGGAAAGAGGGCAGTAGCTAGAGAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGA... |
Task1_train_30017 | Chromosome X houses a mutation in gene ALAS2 (5'-aminolevulinate synthase 2). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; X-linked sideroblastic anemia 1 | GAGCGAAGACTTCTCTCAAGCAGTTTGCCTGTTATAGGGAGGAAAGAGGGCAGTAGCTAGAGAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTT... | GAGCGAAGACTTCTCTCAAGCAGTTTGCCTGTTATAGGGAGGAAAGAGGGCAGTAGCTAGAGAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTT... |
Task1_train_30018 | Here is a variant affecting ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; X-linked sideroblastic anemia 1 | GAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACAT... | GAGTGATCAGGGGTTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACAT... |
Task1_train_30019 | An alteration has been detected in ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; not provided | TTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACATGAAGTTGTCTGCT... | TTGAGGCAATGTTTTTTTATAAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACATGAAGTTGTCTGCT... |
Task1_train_30020 | Given this variant in gene ALAS2 (5'-aminolevulinate synthase 2) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; X-linked sideroblastic anemia 1 | AAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACATGAAGTTGTCTGCTGAGGGAGATGGGGAGGAGGG... | AAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACATGAAGTTGTCTGCTGAGGGAGATGGGGAGGAGGG... |
Task1_train_30021 | The gene ALAS2 (5'-aminolevulinate synthase 2), on Chromosome X, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; X-linked sideroblastic anemia 1 | AAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACATGAAGTTGTCTGCTGAGGGAGATGGGGAGGAGGG... | AAGATACAAGAGACTTGAAAACATGTTTAAAGAGAGGGAGAGGCTGAAGATACAGGAGAGGAGGAGAGAGCCAATAGGTCAAGATTCCTAAGGTGGTAGAGGGGAATGGGGCACAGAGCAACAGTGGAAGGATTAGTCACAAGAAAAAGGATACTTCTTCCACTATGACAGAAGAGAAGGAGTGAGGAGAGGACATTTGAAGATGCTTATGAGTTTGTAGGTGCTTTGTGGCTGGGAGTCAAGGACATTGCTGTCTGGTATCTTCTATTTTGAATGTAGTAGAACATGAAGTTGTCTGCTGAGGGAGATGGGGAGGAGGG... |
Task1_train_30022 | This sequence variant lies in UBQLN2 (ubiquilin 2) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Amyotrophic lateral sclerosis type 15 | AATTAATCATCCTTTTTTAATGTCTATTGGCCATTTGCACTCCTTTTGTAAAATGCACGCTCCTGCTCTGTCTTCTTCCCTTCCCCTACTGGAGGTGTTCCTCTTTTCTTTTTGCTTTGTCAGAGTTCTTTATTATTCATTTTTCGTCTTATACGTGGGATCTGTTCGATTCAGGCTTTCACCCTTTTACTGCCTTACAGATTGCTAATATACATTCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCT... | AATTAATCATCCTTTTTTAATGTCTATTGGCCATTTGCACTCCTTTTGTAAAATGCACGCTCCTGCTCTGTCTTCTTCCCTTCCCCTACTGGAGGTGTTCCTCTTTTCTTTTTGCTTTGTCAGAGTTCTTTATTATTCATTTTTCGTCTTATACGTGGGATCTGTTCGATTCAGGCTTTCACCCTTTTACTGCCTTACAGATTGCTAATATACATTCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCT... |
Task1_train_30023 | A variant has been detected on Chromosome X in UBQLN2 (ubiquilin 2). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Amyotrophic lateral sclerosis type 15 | TCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGC... | TCTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGC... |
Task1_train_30024 | This mutation is located in gene UBQLN2 (ubiquilin 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyotrophic lateral sclerosis type 15 | CTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCG... | CTCCATTGGTCTTTTAATGTCGTTTACAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCG... |
Task1_train_30025 | This mutation is located in gene UBQLN2 (ubiquilin 2) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Amyotrophic lateral sclerosis type 15 | CAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCGGCGGCGGAGGAGGCCCAGAGACCGGA... | CAGAAGCTGACTCTCTACCGCCTCCTTCTCTCCGTCTCACCCTCTCTGCCTCGCCTGCTCTGTACTGTTCTGTTCTCTTCTCTCTCTCCCTTTGTTTCTCTCTCTCCCTTTTTTCTTTTCAGTGCAGAAGTTTTTAATTTTGACCGAGCCAAATCTATCAATCTAGGCCTGGCGCCGCGTCAGCAGAGGGGGCGGGGAGGCGAGCGCGGAACTGGGGGAGGGGAAGGGGCGGGGATCAGCAGGCGGAGCGGCTGCCAGAGTTGCTGGGAGTGCGCGCGGTCGGATCACAAGGCGGCGGCGGAGGAGGCCCAGAGACCGGA... |
Task1_train_30026 | Here is a variant affecting ARHGEF9 (Cdc42 guanine nucleotide exchange factor 9) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Developmental and epileptic encephalopathy, 8 | AGGAACACTCCTCCCGGCCTTGGACTTAGGGGCATTAATGGCTGCCCACTGATATTCTGAAGTCTGGCTCTGTCATTTGCTTCCCTGAGCCATCCTGGCTTGCTCAATCATTTCCCCCCATCCTTGGATTTACTATTTATTATAAAAGTAACATTTCCTTGAAAATGAAATGCATTTGGATTTGGGTGACATCATCATTTGGTACAGTTTAATCCTTCTTTTAAAGAGGGAGGTCTGTAAGCACAAGACATACCAGCTGTATGCGTACAGGGCCTCACATTAGTCCTGAAGGTCTGTGGTTATTGATACGCTTTTTCTGA... | AGGAACACTCCTCCCGGCCTTGGACTTAGGGGCATTAATGGCTGCCCACTGATATTCTGAAGTCTGGCTCTGTCATTTGCTTCCCTGAGCCATCCTGGCTTGCTCAATCATTTCCCCCCATCCTTGGATTTACTATTTATTATAAAAGTAACATTTCCTTGAAAATGAAATGCATTTGGATTTGGGTGACATCATCATTTGGTACAGTTTAATCCTTCTTTTAAAGAGGGAGGTCTGTAAGCACAAGACATACCAGCTGTATGCGTACAGGGCCTCACATTAGTCCTGAAGGTCTGTGGTTATTGATACGCTTTTTCTGA... |
Task1_train_30027 | Mutation context: Chromosome X, Gene ZC4H2 (zinc finger C4H2-type containing). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Wieacker-Wolff syndrome | CTCACATTGTTCACAATCCCATGAAATAAGTGCTAATATTTTCCCCATTTTCCAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAG... | CTCACATTGTTCACAATCCCATGAAATAAGTGCTAATATTTTCCCCATTTTCCAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAG... |
Task1_train_30028 | Given this variant in gene ZC4H2 (zinc finger C4H2-type containing) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Inborn genetic diseases | CAATCCCATGAAATAAGTGCTAATATTTTCCCCATTTTCCAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATC... | CAATCCCATGAAATAAGTGCTAATATTTTCCCCATTTTCCAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATC... |
Task1_train_30029 | Assess the clinical impact of this variant on gene ZC4H2 (zinc finger C4H2-type containing), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; not provided | AAATAAGTGCTAATATTTTCCCCATTTTCCAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTC... | AAATAAGTGCTAATATTTTCCCCATTTTCCAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTC... |
Task1_train_30030 | A change on Chromosome X affects gene ZC4H2 (zinc finger C4H2-type containing). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Wieacker-Wolff syndrome | CAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAG... | CAGATGAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAG... |
Task1_train_30031 | Gene ZC4H2 (zinc finger C4H2-type containing) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Wieacker-Wolff syndrome | GAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAGCTTTT... | GAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAGCTTTT... |
Task1_train_30032 | A mutation on Chromosome X affecting ZC4H2 (zinc finger C4H2-type containing) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Wieacker-Wolff syndrome, female-restricted | GAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAGCTTTT... | GAGGACACTGAGGCACAGAGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAGCTTTT... |
Task1_train_30033 | A variant on Chromosome X in gene ZC4H2 (zinc finger C4H2-type containing) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Wieacker-Wolff syndrome, female-restricted | AGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAGCTTTTAAGTTTTTGGAGGTTCAG... | AGAGGTTTTATTTAGCTGTTGAATTCCCTGACAAGCACAGAGACAGATTAGTGTACAGGATATTATTTAGAGAGCCCTTGGCCTTTATATCCCTGAATCAGTCATTTGACACCCAGTTCTTGATTTCAGTTCCAAAGTTATTTCAACCACTCTCATCATCAAGCCATTCTGAAAGGGAGAAAGGTTTTCTTAAAAATGATCATGGAGAAGAAGTAGAAAAAAATGAGCTCTGGAGTTGGACAAAGCTGGCTCCAAATCCTGCAATTTCCTCTTACTAGCTGTTTAACTCTGAAAAAGCTTTTAAGTTTTTGGAGGTTCAG... |
Task1_train_30034 | The variant affects gene ZC4H2 (zinc finger C4H2-type containing), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Wieacker-Wolff syndrome | CAATATCACACAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCA... | CAATATCACACAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCA... |
Task1_train_30035 | This alteration in ZC4H2 (zinc finger C4H2-type containing) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Wieacker-Wolff syndrome | CAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCAGGGAGCCTCT... | CAAAGAATTTAAAAAGCCACCTAGTAGTTGTTCTAATTCATCTAGTAATTCATCCAGTTTAATAATCCTCCTTCTGTTTTAACAAGCTGGCACAGAGACTTGCCCAAGATCACACAGTGAGTAAGCCACTGAAAGGCCTGGGACTAAAACTAGGCACTCTGACTTTCAGGCTAGGCTTTGTGTATGTATACCTGCCCGTGTGTGTGTAGGTATGTAAGTATGTATGTGGGTCGGAGGGAGGGTATGTTGTAGGGACTGGGGGCAGGTAGCTTACTCCAAGGAAAGCTTCTCCTCTTCTTCACACAAGTCAGGGAGCCTCT... |
Task1_train_30036 | Given this variant in gene ZC4H2 (zinc finger C4H2-type containing) on Chromosome X, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Wieacker-Wolff syndrome | TTTCTTTGTTGAGACTTTCTATTCATTTTCTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTC... | TTTCTTTGTTGAGACTTTCTATTCATTTTCTGAGATTTTCTACATTATCATTTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTC... |
Task1_train_30037 | This variant affects gene ZC4H2 (zinc finger C4H2-type containing) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | TTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTTGTTACTGCTGTTTAGAGGTGAA... | TTGTTTCAAGTGTATTGTAACTGCTCACTGAAATGTTTTTAGGACAGGTGCTTTAAGATCCTTATCAGATAATTCTAACATGGGTGTTATCTCAGTATTGGCATCTGTTTATTTTCTCTTCTCATTCAAGTGGATATCTTAGTATGGAAAGTGATTTTTGATTAAAAGTTGGATACTCTGGATCTTATTTAAATCTTTTGTTTTAGCAGTCCTCTACCACTCTCTTGGATGGAAGAGGGACAGTAGAAGTCCAGTTTCTCCACTGTCTCTTGACATCCAGTTTGGAGAAGGGCTGTTTGTTACTGCTGTTTAGAGGTGAA... |
Task1_train_30038 | This gene mutation involves LAS1L (LAS1 like ribosome biogenesis factor) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Wilson-Turner syndrome | CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACCAGGCCGGCTGCAGTGGCTTATACCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGACAATCTCTTGAATCCCAAAACTTGAAACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAATTATAAAATTAGCCAGACATGGTAGTGCATGCCTGTTGGTCCTAGCTACTTAGGAGGCTGAGGTGGGAGGATTTCTTGAGTGTGCGAGGTTGAGGCTGTAGTTAACTATGTTCGCACCACTGCACTCCAGCCTGGGTGACAGAGC... | CTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACCAGGCCGGCTGCAGTGGCTTATACCTGTGATCCCAGCACTTTGGGAGGCCAAGGCAGGACAATCTCTTGAATCCCAAAACTTGAAACCAGCCTGGGCAACATGGTGAGACCCCATCTCTACAAAAAATTATAAAATTAGCCAGACATGGTAGTGCATGCCTGTTGGTCCTAGCTACTTAGGAGGCTGAGGTGGGAGGATTTCTTGAGTGTGCGAGGTTGAGGCTGTAGTTAACTATGTTCGCACCACTGCACTCCAGCCTGGGTGACAGAGC... |
Task1_train_30039 | This sequence change occurs on Chromosome X, altering MSN (moesin). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Combined immunodeficiency due to moesin deficiency | ACTTATAAGACGAGCTTAAAAGAAGAGCTTATGCCTACTATCAGAATTTGGGGATAGTTGGATATAGTCAGATAAAAGTGGTTTGAAGATTTCTGATCATCAGTCGGTATTAAGGTAATTTCAGGAAGAAATTCCCAACAGAAAGTGATTACAGACATGGGATTCAGTCCCCAGTGAAAGTAATGTATTATTTTTCTTAATTACCAGGGGAGTTGCCACCCAGCTGTCTAAGATTATGCAAATTGATGATCTTTCAGTGTTTTCTCCCCACCCTACAGCCACTCCATTACCCTTAAAACCTATTTTTTGAGAGTCCATAA... | ACTTATAAGACGAGCTTAAAAGAAGAGCTTATGCCTACTATCAGAATTTGGGGATAGTTGGATATAGTCAGATAAAAGTGGTTTGAAGATTTCTGATCATCAGTCGGTATTAAGGTAATTTCAGGAAGAAATTCCCAACAGAAAGTGATTACAGACATGGGATTCAGTCCCCAGTGAAAGTAATGTATTATTTTTCTTAATTACCAGGGGAGTTGCCACCCAGCTGTCTAAGATTATGCAAATTGATGATCTTTCAGTGTTTTCTCCCCACCCTACAGCCACTCCATTACCCTTAAAACCTATTTTTTGAGAGTCCATAA... |
Task1_train_30040 | This sequence variant lies in AR (androgen receptor) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Partial androgen insensitivity syndrome | TCCTCCACAAAAGAGCAGTTGCAGTAACCCACATCATCCTCTACGCCTGGCTGTCCATCAAGAGGCGAAAAGCAGCCCTATATAGGTTCTATCCTTGGATAGTTCCAGTTGTAAAGTTTAAAATATGCGAAGGCAACTTGGAAAAGCAAGCGGCTGCATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAA... | TCCTCCACAAAAGAGCAGTTGCAGTAACCCACATCATCCTCTACGCCTGGCTGTCCATCAAGAGGCGAAAAGCAGCCCTATATAGGTTCTATCCTTGGATAGTTCCAGTTGTAAAGTTTAAAATATGCGAAGGCAACTTGGAAAAGCAAGCGGCTGCATACAAAGCAAACGTTTACAGAGCTCTGGACAAAATTGAGCGCCTATGTGTACATGGCAAGTGTTTTTAGTGTTTGTGTGTTTACCTGCTTGTCTGGGTGATTTTGCCTTTGAGAGTCTGGATGAGAAATGCATGGTTAAAGGCAATTCCAGACAGGAAGAAA... |
Task1_train_30041 | A variant was discovered in gene AR (androgen receptor), Chromosome X. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Male infertility | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... |
Task1_train_30042 | This mutation is located in gene AR (androgen receptor) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not specified | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... |
Task1_train_30043 | Given this context: Chromosome X, gene AR (androgen receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Kennedy disease | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... |
Task1_train_30044 | Chromosome X houses a mutation in gene AR (androgen receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Androgen resistance syndrome | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... | TTGTAGGAGACTCTCCCACTCTCCCATCTGCGCGCTCTTATCAGTCCTGAAAAGAACCCCTGGCAGCCAGGAGCAGGTATTCCTATCGTCCTTTTCCTCCCTCCCTCGCCTCCACCCTGTTGGTTTTTTAGATTGGGCTTTGGAACCAAATTTGGTGAGTGCTGGCCTCCAGGAAATCTGGAGCCCTGGCGCCTAAACCTTGGTTTAGGAAAGCAGGAGCTATTCAGGAAGCAGGGGTCCTCCAGGGCTAGAGCTAGCCTCTCCTGCCCTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTT... |
Task1_train_30045 | A variant on Chromosome X in gene AR (androgen receptor) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Androgen resistance syndrome | CTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGC... | CTCGCCCACGCTGCGCCAGCACTTGTTTCTCCAAAGCCACTAGGCAGGCGTTAGCGCGCGGTGAGGGGAGGGGAGAAAAGGAAAGGGGAGGGGAGGGAAAAGGAGGTGGGAAGGCAAGGAGGCCGGCCCGGTGGGGGCGGGACCCGACTCGCAAACTGTTGCATTTGCTCTCCACCTCCCAGCGCCCCCTCCGAGATCCCGGGGAGCCAGCTTGCTGGGAGAGCGGGACGGTCCGGAGCAAGCCCAGAGGCAGAGGAGGCGACAGAGGGAAAAAGGGCCGAGCTAGCCGCTCCAGTGCTGTACAGGAGCCGAAGGGACGC... |
Task1_train_30046 | Assess the clinical impact of this variant on gene AR (androgen receptor), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Androgen resistance syndrome | ACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTG... | ACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTG... |
Task1_train_30047 | An alteration has been detected in AR (androgen receptor) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Kennedy disease | ACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTG... | ACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTG... |
Task1_train_30048 | A genomic change on Chromosome X affects AR (androgen receptor). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Malignant tumor of prostate | ACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTG... | ACCACGCCAGCCCCAGCCCGGCTCCAGCGACAGCCAACGCCTCTTGCAGCGCGGCGGCTTCGAAGCCGCCGCCCGGAGCTGCCCTTTCCTCTTCGGTGAAGTTTTTAAAAGCTGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTG... |
Task1_train_30049 | The gene AR (androgen receptor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Malignant tumor of prostate | TGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACT... | TGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACT... |
Task1_train_30050 | Gene AR (androgen receptor) on Chromosome X is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; not specified | TGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACT... | TGCTAAAGACTCGGAGGAAGCAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACT... |
Task1_train_30051 | This genomic variant is located on Chromosome X, within the AR (androgen receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Malignant tumor of prostate | CAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGT... | CAAGGAAAGTGCCTGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGT... |
Task1_train_30052 | This sequence change occurs on Chromosome X, altering AR (androgen receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Malignant tumor of prostate | TGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCG... | TGGTAGGACTGACGGCTGCCTTTGTCCTCCTCCTCTCCACCCCGCCTCCCCCCACCCTGCCTTCCCCCCCTCCCCCGTCTTCTCTCCCGCAGCTGCCTCAGTCGGCTACTCTCAGCCAACCCCCCTCACCACCCTTCTCCCCACCCGCCCCCCCGCCCCCGTCGGCCCAGCGCTGCCAGCCCGAGTTTGCAGAGAGGTAACTCCCTTTGGCTGCGAGCGGGCGAGCTAGCTGCACATTGCAAAGAAGGCTCTTAGGAGCCAGGCGACTGGGGAGCGGCTTCAGCACTGCAGCCACGACCCGCCTGGTTAGGCTGCACGCG... |
Task1_train_30053 | A variant has been detected on Chromosome X in AR (androgen receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Androgen resistance syndrome | GCATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGA... | GCATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGA... |
Task1_train_30054 | Here is a mutation in AR (androgen receptor) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Kennedy disease | GCATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGA... | GCATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGA... |
Task1_train_30055 | A mutation on Chromosome X affecting AR (androgen receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Prostate cancer, hereditary, X-linked 3 | GCATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGA... | GCATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGA... |
Task1_train_30056 | The following genetic variant occurs in AR (androgen receptor) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not specified | CATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAA... | CATCAGTTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAA... |
Task1_train_30057 | The gene AR (androgen receptor) is located on Chromosome X, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Androgen resistance syndrome | TTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGC... | TTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGC... |
Task1_train_30058 | An alteration has been detected in AR (androgen receptor) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Kennedy disease | TTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGC... | TTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGC... |
Task1_train_30059 | This gene mutation involves AR (androgen receptor) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Malignant tumor of prostate | TTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGC... | TTTCCTCTTCTGCAATATAGGGATGATACACAGCTACCTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGC... |
Task1_train_30060 | This sequence change occurs on Chromosome X, altering AR (androgen receptor). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Androgen resistance syndrome | CTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGG... | CTGGTAGGTTGTTGGGAAAATTAAATGGGATGATATGTATGAAATGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGG... |
Task1_train_30061 | A mutation found in AR (androgen receptor) on Chromosome X may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Androgen resistance syndrome | TGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAA... | TGGCCTGGCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAA... |
Task1_train_30062 | Gene AR (androgen receptor) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Androgen resistance syndrome | GCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAAAGGAAGG... | GCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAAAGGAAGG... |
Task1_train_30063 | Assess the clinical impact of this variant on gene AR (androgen receptor), found on Chromosome X. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Androgen resistance syndrome | GCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAAAGGAAGG... | GCATATAGAGTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAAAGGAAGG... |
Task1_train_30064 | The gene AR (androgen receptor) on Chromosome X carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Androgen resistance syndrome | GTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAAAGGAAGGCTTGTGGGG... | GTGCCTAAATACATGTTCTTCTGATTCTATTTGGACAGTTTGTGTTAGTAACAGAAGTCAAAAAGGTGGAGAAAGGAGAAAGGTACTTGTGAAAATTTTCTATTTCTTCTCCATGTTTCATTCAGGACTGAGGAAGGGGGCACAGTTTTTACCCAAGGAAATGACATTTTTAGCCAAAAGAAATGATCTTAGCATTTAGCTGAATTATATATTGGAAGTAAGCTCCTTCCATGTGGAACTTATGGCCTTGCTAGCCTTGGTTTGTTGGAAGTGCTCTTGCTGGCTTTCTAGTTAGGGTAGGGAAAGGAAGGCTTGTGGGG... |
Task1_train_30065 | The gene AR (androgen receptor) on Chromosome X contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Partial androgen insensitivity syndrome | TAGAACTATTATGGGAGCCATATTCCATTGGTGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATAT... | TAGAACTATTATGGGAGCCATATTCCATTGGTGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATAT... |
Task1_train_30066 | Here is a variant affecting AR (androgen receptor) on Chromosome X. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Androgen resistance syndrome | GGAGCCATATTCCATTGGTGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGT... | GGAGCCATATTCCATTGGTGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGT... |
Task1_train_30067 | A mutation in AR (androgen receptor), located on Chromosome X, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Partial androgen insensitivity syndrome | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... |
Task1_train_30068 | Gene AR (androgen receptor) on Chromosome X is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Kennedy disease | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... |
Task1_train_30069 | The following genetic variant occurs in AR (androgen receptor) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Androgen resistance syndrome | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... |
Task1_train_30070 | Here is a mutation in AR (androgen receptor) on Chromosome X. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Disorder of sexual differentiation | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... | TGGTGCAACCATTTCTTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGC... |
Task1_train_30071 | Consider this mutation in AR (androgen receptor) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; not provided | TTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATG... | TTGACAAACTAGGGTCCAAGAAAGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATG... |
Task1_train_30072 | This sequence variant lies in AR (androgen receptor) on Chromosome X. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Androgen insensitivity, partial, with breast cancer | AGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAA... | AGTATTTTCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAA... |
Task1_train_30073 | This variant lies on Chromosome X and affects the gene AR (androgen receptor). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; not provided | TCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTG... | TCCTGGGGAAGATGAGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTG... |
Task1_train_30074 | The following genetic variant occurs in AR (androgen receptor) on Chromosome X. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Partial androgen insensitivity syndrome | AGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTGGTATGCTAGAAAGA... | AGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTGGTATGCTAGAAAGA... |
Task1_train_30075 | This is a variant in AR (androgen receptor), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Androgen resistance syndrome | AGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTGGTATGCTAGAAAGA... | AGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTGGTATGCTAGAAAGA... |
Task1_train_30076 | Mutation context: Chromosome X, Gene AR (androgen receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Kennedy disease | AGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTGGTATGCTAGAAAGA... | AGATTTCTCAAAGAAGGCACGCACTTTCTAACCTAAGCTTATTTCAGTAATCAATGTAACAAGCTGGTCTTGATGATTGCAGCAGTACCAATACTGTGGGAGTGTACCAGTTCTAGAACAGCTACAACATTGGAATTGAACGCACTAGAATTGGATACAGGACCTGTTTTTGAGGAGCTAACACCCAAAGGCTGAACAGCACTCGTAGCACCGTCCTTTCTGTGCACATATGGTAGTCCTCAGTTTGCAACAGAAATAAAGCTGTTAGCAAATTATGTGTTCTATTTATGCAAATAAAATCTTGTGGTATGCTAGAAAGA... |
Task1_train_30077 | A variant has been detected on Chromosome X in AR (androgen receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Prostate cancer, somatic | TGCTCCATGGGCGTGGGACCCTCCGAGCCAGGTGTGGGATATAATCTCCTGGTGTGCCGTTTGCTAAGACCATTGGAAAAGTGCAGTATTAGGGTGGGAGTGACCCAATTTTCCAGGTGCCATCTGTCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCAC... | TGCTCCATGGGCGTGGGACCCTCCGAGCCAGGTGTGGGATATAATCTCCTGGTGTGCCGTTTGCTAAGACCATTGGAAAAGTGCAGTATTAGGGTGGGAGTGACCCAATTTTCCAGGTGCCATCTGTCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCAC... |
Task1_train_30078 | Here’s a variant in AR (androgen receptor) located on Chromosome X. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Androgen resistance syndrome | AGGGTGGGAGTGACCCAATTTTCCAGGTGCCATCTGTCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAAT... | AGGGTGGGAGTGACCCAATTTTCCAGGTGCCATCTGTCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAAT... |
Task1_train_30079 | This variant affects gene AR (androgen receptor) located on Chromosome X. Evaluate its biological effect and specify any disease association. | Pathogenic; Androgen resistance syndrome | GACCCAATTTTCCAGGTGCCATCTGTCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAA... | GACCCAATTTTCCAGGTGCCATCTGTCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAA... |
Task1_train_30080 | Located on Chromosome X, this mutation impacts AR (androgen receptor). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Androgen resistance syndrome | TCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAG... | TCACAGCTTTGCTTGGCTAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAG... |
Task1_train_30081 | A variant was discovered on Chromosome X, affecting AR (androgen receptor). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Androgen resistance syndrome | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... |
Task1_train_30082 | Consider this mutation in AR (androgen receptor) on Chromosome X. Is this a benign change or a disease-causing variant? | Pathogenic; Kennedy disease | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... |
Task1_train_30083 | This gene mutation involves AR (androgen receptor) on Chromosome X. Is it associated with any clinical condition, or is it benign? | Pathogenic; Androgen resistance syndrome | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... |
Task1_train_30084 | This is a variant in AR (androgen receptor), located on Chromosome X. Is this mutation a likely cause of disease or not? | Pathogenic; Inborn genetic diseases | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... | TAGGAAAGGGAATTTCCTGACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATA... |
Task1_train_30085 | Here is a genetic alteration in AR (androgen receptor) on Chromosome X. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Androgen resistance syndrome | GACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGG... | GACCCTTTGCACTTCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGG... |
Task1_train_30086 | Mutation context: Chromosome X, Gene AR (androgen receptor). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Androgen resistance syndrome | TCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCT... | TCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCT... |
Task1_train_30087 | A change on Chromosome X affects gene AR (androgen receptor). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Kennedy disease | TCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCT... | TCCCGGGTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCT... |
Task1_train_30088 | The variant affects gene AR (androgen receptor), which is on Chromosome X. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Androgen resistance syndrome | GTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGG... | GTGAGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGG... |
Task1_train_30089 | This alteration in AR (androgen receptor) on Chromosome X may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Androgen resistance syndrome | AGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCA... | AGGCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCA... |
Task1_train_30090 | Consider a variant on Chromosome X in gene AR (androgen receptor). Determine its clinical classification and disease relevance. | Pathogenic; Androgen resistance syndrome | GCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACT... | GCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACT... |
Task1_train_30091 | This mutation occurs in AR (androgen receptor) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Kennedy disease | GCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACT... | GCGATGCCTCTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACT... |
Task1_train_30092 | This mutation is located in gene AR (androgen receptor) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Kennedy disease | CTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAAC... | CTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAAC... |
Task1_train_30093 | This genomic variant is located on Chromosome X, within the AR (androgen receptor) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Androgen resistance syndrome | CTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAAC... | CTCCCTGCTTTGGCTCACACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAAC... |
Task1_train_30094 | This variant impacts the gene AR (androgen receptor) on Chromosome X. Is the change likely to result in a pathogenic outcome? | Pathogenic; Androgen resistance syndrome | ACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAACCCCATTCCCATATGATGC... | ACTTGGTGCACTGCACCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAACCCCATTCCCATATGATGC... |
Task1_train_30095 | A variant has been detected on Chromosome X in AR (androgen receptor). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Androgen resistance syndrome | CCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAACCCCATTCCCATATGATGCTTGAATTCTTAACCA... | CCCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAACCCCATTCCCATATGATGCTTGAATTCTTAACCA... |
Task1_train_30096 | This mutation is located in gene AR (androgen receptor) on Chromosome X. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Androgen resistance syndrome | CCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAACCCCATTCCCATATGATGCTTGAATTCTTAACCAC... | CCACTGTCCTGTACCCACTGTCCAACAAGCCCCAGTGAGATGAACCCGGTACCTCAGTCGGAAATGCAGAAATCACTCATCTTCTGCGTCACTCACGCTGGGAGCTGTAGACTGGAGCTGTTCCTATTCGGCCATCTTATGAATCATGCATGTTCAACTATGAGCAACTATGTGTATTCAATGGGAAATGGAATACCATAAAATTGTCATATGTTGAGCCCAAAATGATAGGATAGAATTTGATAGTCTGAGGATGGAAAGGACCTTCAAGGCCACTTTTAAAAACCCCATTCCCATATGATGCTTGAATTCTTAACCAC... |
Task1_train_30097 | An alteration has been detected in AR (androgen receptor) on Chromosome X. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Androgen resistance syndrome | ACCTGGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAA... | ACCTGGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAA... |
Task1_train_30098 | Chromosome X houses a mutation in gene AR (androgen receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Kennedy disease | ACCTGGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAA... | ACCTGGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAA... |
Task1_train_30099 | This mutation occurs in AR (androgen receptor) on Chromosome X. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Kennedy disease | GGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTC... | GGAAGGCCTAGGATCTAAAAGAAAAGAACAGGGAAATGGGGCTATATGAGTGGACAGGGACCAACCAAGCAGAACAATGTGTCTGGATAATGTAGACTTCAGACCTGATCCTATGGCTGACAAAAGCTGGTGACCTTGGTAGTTCCTGAGCTGTAACCTTCATTAGTGGAGTAGAAAAAACACTGGAGAAGAGAATCAGAACACCTGGGTTCTAGTATTAGTTCAGCCACATATAAACCATATGACCTTGGGTAAGTCAGTTTATTTCTCTGGCCCTCATGTTCCTTGTTGGTAAAATAAGTGCCACATCACCTAACCTC... |
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