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_4000 | A mutation in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | CCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGC... | CCATCTCTTTGACTTTGTGTTTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGC... |
Task1_train_4001 | This alteration in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | TTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC... | TTTCTTTCAGGGAACTTTCTTTTTTTTCTTTTTTTTTGAGATGGAGTTTCACTCTTGTTGTCCCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACCACAACCTCCGCCTCCTGGATTCAAGCGATTCTCCTGCCGCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCACCACGCCCAGCTAATTTTGTGTTTTTAGTAGAGAAGGGGTTTCTCCGTGTTGGTCAAGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCC... |
Task1_train_4002 | This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal recessive | ATGGACGCAACCTGAGGGGAGAGGAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAA... | ATGGACGCAACCTGAGGGGAGAGGAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAA... |
Task1_train_4003 | This sequence variant lies in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal recessive | GAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACC... | GAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACC... |
Task1_train_4004 | This is a variant in PROC (protein C, inactivator of coagulation factors Va and VIIIa), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | GAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACC... | GAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACC... |
Task1_train_4005 | A variant was discovered in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | GAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACC... | GAGCAGCCAGGGTGGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACC... |
Task1_train_4006 | A mutation on Chromosome 2 affecting PROC (protein C, inactivator of coagulation factors Va and VIIIa) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; not provided | GGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGG... | GGGTGAGGGGAGGGGCATGGGGGCATGGAGGGGTCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGG... |
Task1_train_4007 | The following genetic variant occurs in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | TCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGG... | TCTGCAGGAGGGAGGGTTACAGTTTCTAAAAAGAGCTGGAAAGACACTGCTCTGCTGGCGGGATTTTAGGCAGAAGCCCTGCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGG... |
Task1_train_4008 | Given this context: Chromosome 2, gene PROC (protein C, inactivator of coagulation factors Va and VIIIa) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Inborn genetic diseases | GCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAG... | GCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAG... |
Task1_train_4009 | A change on Chromosome 2 affects gene PROC (protein C, inactivator of coagulation factors Va and VIIIa). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | GCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAG... | GCTGATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAG... |
Task1_train_4010 | This variant affects the gene PROC (protein C, inactivator of coagulation factors Va and VIIIa) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | ATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCG... | ATGGGAGAGGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCG... |
Task1_train_4011 | The following genetic variant occurs in PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal recessive | GGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGA... | GGGCTAGGAGGGAGGGCCGGGCCTGAGTACCCCTCCAGCCTCCACATGGGAACTGACACTTACTGGGTTCCCCTCTCTGCCAGGCATGGGGGAGATAGGAACCAACAAGTGGGAGTATTTGCCCTGGGGACTCAGACTCTGCAAGGGTCAGGACCCCAAAGACCCGGCAGCCCAGTGGGACCACAGCCAGGACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGA... |
Task1_train_4012 | The gene PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | ACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTG... | ACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTG... |
Task1_train_4013 | This mutation is located in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | ACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTG... | ACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTG... |
Task1_train_4014 | Chromosome 2 houses a mutation in gene PROC (protein C, inactivator of coagulation factors Va and VIIIa). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal recessive | ACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTG... | ACGGCCCTTCAAGATAGGGGCTGAGGGAGGCCCAAGGGGAACATCCAGGCAGCCTGGGGGCCACAAAGTCTTCCTGGAAGACACAAGGCCTGGCCAAGCCTCTAAGGATGAGAGGAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTG... |
Task1_train_4015 | Gene PROC (protein C, inactivator of coagulation factors Va and VIIIa) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal dominant | GAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTGGACTGGAGGCTGTCAGGAGGCAGCCCTGTGATGTCATCATCCCACCCCATTCCAGGTGGTCCTGCTGGACTCAAAGAAGAAGCTGGCCTGCGGGGCAGTGCTCATCCACCCCTC... | GAGCTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTGGACTGGAGGCTGTCAGGAGGCAGCCCTGTGATGTCATCATCCCACCCCATTCCAGGTGGTCCTGCTGGACTCAAAGAAGAAGCTGGCCTGCGGGGCAGTGCTCATCCACCCCTC... |
Task1_train_4016 | This sequence change occurs on Chromosome 2, altering PROC (protein C, inactivator of coagulation factors Va and VIIIa). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Thrombophilia due to protein C deficiency, autosomal recessive | CTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTGGACTGGAGGCTGTCAGGAGGCAGCCCTGTGATGTCATCATCCCACCCCATTCCAGGTGGTCCTGCTGGACTCAAAGAAGAAGCTGGCCTGCGGGGCAGTGCTCATCCACCCCTCCTG... | CTCGCTGGGCGATGTTGGGTGTGGCTGAGGGTGACTGAAACAGTATGAACAGTGCAGGAACAGCATGGGCAAAGGCAGGAAGACACCCTGGGACAGGCTGACACTGTAAAATGGGCAAAAATAGAAAACGCCAGAAAGGGCCTAAGCCTATGCCCATATGACCAGGGAACCCAGGAAAGTGCATATGAAACCCAGGTGCCCTGGACTGGAGGCTGTCAGGAGGCAGCCCTGTGATGTCATCATCCCACCCCATTCCAGGTGGTCCTGCTGGACTCAAAGAAGAAGCTGGCCTGCGGGGCAGTGCTCATCCACCCCTCCTG... |
Task1_train_4017 | This variant affects gene LIMS2 (LIM zinc finger domain containing 2) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Autosomal recessive limb-girdle muscular dystrophy type 2W | TCTGACCCCCCCGTCCCCTGTCCAGGGCTATAAGATGGATGACCTGCTGACCTCATATGTGCAGCAGCTCCTGAGTGCCATGAACAAGCAGCGGGGCTCCAAGGCCCCAGCCCTGGCCAGCACCTAGCAGCGGATGCTGGCGTGTCTGCTCAGGCGCCCTTCCCGACCTCTAGCCTGGCGGCACCTTCCCAGGCCCTCTCAACCCAGGGCCTGTCCTTGGCGGGCAGCCTTCCATGCTGCCCCCCATACAAAGCCCACTCAGCCCCGCAGGCGGCCCCCTCTGTCCTGGGCGCTGCCCAGGGAGGCCAAAAGACGGGCCC... | TCTGACCCCCCCGTCCCCTGTCCAGGGCTATAAGATGGATGACCTGCTGACCTCATATGTGCAGCAGCTCCTGAGTGCCATGAACAAGCAGCGGGGCTCCAAGGCCCCAGCCCTGGCCAGCACCTAGCAGCGGATGCTGGCGTGTCTGCTCAGGCGCCCTTCCCGACCTCTAGCCTGGCGGCACCTTCCCAGGCCCTCTCAACCCAGGGCCTGTCCTTGGCGGGCAGCCTTCCATGCTGCCCCCCATACAAAGCCCACTCAGCCCCGCAGGCGGCCCCCTCTGTCCTGGGCGCTGCCCAGGGAGGCCAAAAGACGGGCCC... |
Task1_train_4018 | Here’s a variant in VMA22 (vacuolar ATPase assembly factor VMA22) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; CCDC115-CDG | GTGCCCACTCAGACTCTCCAGCAGGGCGTCGGTGGATACCACACAGACCACACCAACTCCTGCCTTCTGGAATCCTCTCAGCTGCCCACAGCAGGTGAGGGTCGCTCCATCCTCCCAGGGGTTCTGGGTGGAGACCGCAGGCTCTCCTGGACTCCTTTCCTTCCCTTACTCCCATATCTTATCTGTCAGCAAATTCTGGGGCTTCTATTCTTAAAACCTGTGCAGGTTCCCACCACTTACCTCCTCCTCCAGTGACGCTATCTGCTTCTCACACTGGCTGCTCCCTGACACCTACTTCCTCCCTCTGCTCTGTGTCCCCG... | GTGCCCACTCAGACTCTCCAGCAGGGCGTCGGTGGATACCACACAGACCACACCAACTCCTGCCTTCTGGAATCCTCTCAGCTGCCCACAGCAGGTGAGGGTCGCTCCATCCTCCCAGGGGTTCTGGGTGGAGACCGCAGGCTCTCCTGGACTCCTTTCCTTCCCTTACTCCCATATCTTATCTGTCAGCAAATTCTGGGGCTTCTATTCTTAAAACCTGTGCAGGTTCCCACCACTTACCTCCTCCTCCAGTGACGCTATCTGCTTCTCACACTGGCTGCTCCCTGACACCTACTTCCTCCCTCTGCTCTGTGTCCCCG... |
Task1_train_4019 | Assess the clinical impact of this variant on gene CCDC115, LOC129934769 (vacuolar ATPase assembly factor VMA22| ATAC-STARR-seq lymphoblastoid active region 16526), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Congenital disorders of glycosylation type II | GCCTTCTGGAATCCTCTCAGCTGCCCACAGCAGGTGAGGGTCGCTCCATCCTCCCAGGGGTTCTGGGTGGAGACCGCAGGCTCTCCTGGACTCCTTTCCTTCCCTTACTCCCATATCTTATCTGTCAGCAAATTCTGGGGCTTCTATTCTTAAAACCTGTGCAGGTTCCCACCACTTACCTCCTCCTCCAGTGACGCTATCTGCTTCTCACACTGGCTGCTCCCTGACACCTACTTCCTCCCTCTGCTCTGTGTCCCCGCCCAGCACCCAAGCATTCCTGTGACCCTGTACAGCCAGTTGCACCATCCTCTGCTCAGAGC... | GCCTTCTGGAATCCTCTCAGCTGCCCACAGCAGGTGAGGGTCGCTCCATCCTCCCAGGGGTTCTGGGTGGAGACCGCAGGCTCTCCTGGACTCCTTTCCTTCCCTTACTCCCATATCTTATCTGTCAGCAAATTCTGGGGCTTCTATTCTTAAAACCTGTGCAGGTTCCCACCACTTACCTCCTCCTCCAGTGACGCTATCTGCTTCTCACACTGGCTGCTCCCTGACACCTACTTCCTCCCTCTGCTCTGTGTCCCCGCCCAGCACCCAAGCATTCCTGTGACCCTGTACAGCCAGTTGCACCATCCTCTGCTCAGAGC... |
Task1_train_4020 | This mutation occurs in CCDC115, LOC129934769 (vacuolar ATPase assembly factor VMA22| ATAC-STARR-seq lymphoblastoid active region 16526) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; CCDC115-CDG | GCCTTCTGGAATCCTCTCAGCTGCCCACAGCAGGTGAGGGTCGCTCCATCCTCCCAGGGGTTCTGGGTGGAGACCGCAGGCTCTCCTGGACTCCTTTCCTTCCCTTACTCCCATATCTTATCTGTCAGCAAATTCTGGGGCTTCTATTCTTAAAACCTGTGCAGGTTCCCACCACTTACCTCCTCCTCCAGTGACGCTATCTGCTTCTCACACTGGCTGCTCCCTGACACCTACTTCCTCCCTCTGCTCTGTGTCCCCGCCCAGCACCCAAGCATTCCTGTGACCCTGTACAGCCAGTTGCACCATCCTCTGCTCAGAGC... | GCCTTCTGGAATCCTCTCAGCTGCCCACAGCAGGTGAGGGTCGCTCCATCCTCCCAGGGGTTCTGGGTGGAGACCGCAGGCTCTCCTGGACTCCTTTCCTTCCCTTACTCCCATATCTTATCTGTCAGCAAATTCTGGGGCTTCTATTCTTAAAACCTGTGCAGGTTCCCACCACTTACCTCCTCCTCCAGTGACGCTATCTGCTTCTCACACTGGCTGCTCCCTGACACCTACTTCCTCCCTCTGCTCTGTGTCCCCGCCCAGCACCCAAGCATTCCTGTGACCCTGTACAGCCAGTTGCACCATCCTCTGCTCAGAGC... |
Task1_train_4021 | Consider a variant on Chromosome 2 in gene CFC1 (cryptic, EGF-CFC family member 1). Determine its clinical classification and disease relevance. | Pathogenic; Heterotaxy, visceral, 2, autosomal | CTACTTCATTGGCTTTCATAAGAGTTAAATGGGATAATGGGTATATAAAGTGCCTGAAATACACTGAGGGCTCCTCTCATGCTGTAACACCCAGAAGAGCTTGCCCTATTGCAATGGCACCTGCCACGGAGGATGTTCCATCTATCATCACTGTTGTCAAACTTCAAGTCATCATAACCACCATCAGCACAGCCATCACCAGCATCACTGTAACTTGCCTTGAAGCAGGATGAATGGGTAAAAGAACACAAAGGTGTTACTGCCCTCTCTGCACCTGACAGATGACTCTGAAGGATGACTGCACTATTTTGTCTAGCTTT... | CTACTTCATTGGCTTTCATAAGAGTTAAATGGGATAATGGGTATATAAAGTGCCTGAAATACACTGAGGGCTCCTCTCATGCTGTAACACCCAGAAGAGCTTGCCCTATTGCAATGGCACCTGCCACGGAGGATGTTCCATCTATCATCACTGTTGTCAAACTTCAAGTCATCATAACCACCATCAGCACAGCCATCACCAGCATCACTGTAACTTGCCTTGAAGCAGGATGAATGGGTAAAAGAACACAAAGGTGTTACTGCCCTCTCTGCACCTGACAGATGACTCTGAAGGATGACTGCACTATTTTGTCTAGCTTT... |
Task1_train_4022 | This sequence change occurs on Chromosome 2, altering TMEM163 (transmembrane protein 163). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Leukodystrophy, hypomyelinating, 25 | TACCCAGAACAGCTTGGGTTGGGTGCATTAGTTGCTCCTTTGGCTAGACCAGCATTAAGTCAAGGTTGATCATCACAGGGCAGGTTAAGTATCCTTTATCCAAAATGCTTAGGACCAGAAGGGTTTCAGGTTTCAGATTTTTTTTGGATTTTGGGATGGCTGCATATACATAATGAGATATATTGGGGATGGAACCCAAATCTAAACATGAAATTCGTTTATGTTTCGTATACACCTTGTACACATAGCCTGAAGGTAATCTTATACAATATTTTAAGTAATTTTGTGCATGAAACAAAGTTTTGACTGTGACCAGTCAC... | TACCCAGAACAGCTTGGGTTGGGTGCATTAGTTGCTCCTTTGGCTAGACCAGCATTAAGTCAAGGTTGATCATCACAGGGCAGGTTAAGTATCCTTTATCCAAAATGCTTAGGACCAGAAGGGTTTCAGGTTTCAGATTTTTTTTGGATTTTGGGATGGCTGCATATACATAATGAGATATATTGGGGATGGAACCCAAATCTAAACATGAAATTCGTTTATGTTTCGTATACACCTTGTACACATAGCCTGAAGGTAATCTTATACAATATTTTAAGTAATTTTGTGCATGAAACAAAGTTTTGACTGTGACCAGTCAC... |
Task1_train_4023 | The gene TMEM163 (transmembrane protein 163) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Leukodystrophy, hypomyelinating, 25 | CATTAGTTGCTCCTTTGGCTAGACCAGCATTAAGTCAAGGTTGATCATCACAGGGCAGGTTAAGTATCCTTTATCCAAAATGCTTAGGACCAGAAGGGTTTCAGGTTTCAGATTTTTTTTGGATTTTGGGATGGCTGCATATACATAATGAGATATATTGGGGATGGAACCCAAATCTAAACATGAAATTCGTTTATGTTTCGTATACACCTTGTACACATAGCCTGAAGGTAATCTTATACAATATTTTAAGTAATTTTGTGCATGAAACAAAGTTTTGACTGTGACCAGTCACATGAGGTCAGGTGAGGAATTTTCTA... | CATTAGTTGCTCCTTTGGCTAGACCAGCATTAAGTCAAGGTTGATCATCACAGGGCAGGTTAAGTATCCTTTATCCAAAATGCTTAGGACCAGAAGGGTTTCAGGTTTCAGATTTTTTTTGGATTTTGGGATGGCTGCATATACATAATGAGATATATTGGGGATGGAACCCAAATCTAAACATGAAATTCGTTTATGTTTCGTATACACCTTGTACACATAGCCTGAAGGTAATCTTATACAATATTTTAAGTAATTTTGTGCATGAAACAAAGTTTTGACTGTGACCAGTCACATGAGGTCAGGTGAGGAATTTTCTA... |
Task1_train_4024 | This gene mutation involves TMEM163 (transmembrane protein 163) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Leukodystrophy, hypomyelinating, 25 | TAAAATCAGCAACCCTAACAACACAATCACAGACCATATCAAGGGTTTAAAATATGAAACACATACACACACACACAAATACTAAAGCTACTCTATAGTTAAAGTGGAGGAAAATATAATTCACCTTCTACATTTTTTAGTTTGACTAAACCAGAACAAACTGAAAGTGATGTGAGAACAAATTGAATGTACTATAGATAACACAAATCATGATATTATATGCCAATACCAACATTTTATTGGCTAGAAGTTAGAGGATTTAAATTAAATACTTGCTGCAATGAAGGTGTAAAATCATTTTTAAAAGAAAAAGAAAGAGA... | TAAAATCAGCAACCCTAACAACACAATCACAGACCATATCAAGGGTTTAAAATATGAAACACATACACACACACACAAATACTAAAGCTACTCTATAGTTAAAGTGGAGGAAAATATAATTCACCTTCTACATTTTTTAGTTTGACTAAACCAGAACAAACTGAAAGTGATGTGAGAACAAATTGAATGTACTATAGATAACACAAATCATGATATTATATGCCAATACCAACATTTTATTGGCTAGAAGTTAGAGGATTTAAATTAAATACTTGCTGCAATGAAGGTGTAAAATCATTTTTAAAAGAAAAAGAAAGAGA... |
Task1_train_4025 | Gene TMEM163 (transmembrane protein 163), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Leukodystrophy, hypomyelinating, 25 | TAAAATCAGCAACCCTAACAACACAATCACAGACCATATCAAGGGTTTAAAATATGAAACACATACACACACACACAAATACTAAAGCTACTCTATAGTTAAAGTGGAGGAAAATATAATTCACCTTCTACATTTTTTAGTTTGACTAAACCAGAACAAACTGAAAGTGATGTGAGAACAAATTGAATGTACTATAGATAACACAAATCATGATATTATATGCCAATACCAACATTTTATTGGCTAGAAGTTAGAGGATTTAAATTAAATACTTGCTGCAATGAAGGTGTAAAATCATTTTTAAAAGAAAAAGAAAGAGA... | TAAAATCAGCAACCCTAACAACACAATCACAGACCATATCAAGGGTTTAAAATATGAAACACATACACACACACACAAATACTAAAGCTACTCTATAGTTAAAGTGGAGGAAAATATAATTCACCTTCTACATTTTTTAGTTTGACTAAACCAGAACAAACTGAAAGTGATGTGAGAACAAATTGAATGTACTATAGATAACACAAATCATGATATTATATGCCAATACCAACATTTTATTGGCTAGAAGTTAGAGGATTTAAATTAAATACTTGCTGCAATGAAGGTGTAAAATCATTTTTAAAAGAAAAAGAAAGAGA... |
Task1_train_4026 | The gene RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Warburg micro syndrome 1 | AACACCCTGTCCATAAATACAGTCACATTTTGAGGTACTAGGAGTTAGGGCTTCAACATATGAATTTTGAGTGAGAATCCAATCGATTACCACCAAACTGGTTGCAAATACAAATAAGCTCCTAACAGGGGGCAGAGAAAGTCTTCACAGAAGAGCAAATATCCAAGCTGAAACTTGAAGGACAAATTTTACCAGGTAAACTATAGACACAAGGACATTGCAGATTCTAAACGACAGCATGTCCAGAGGAAAGAGAAAGCACAGGATGTCGAAAACATTGTAGGTGCATGTTAAAAGAGGCTGTCTATTAAAAGAGAGTG... | AACACCCTGTCCATAAATACAGTCACATTTTGAGGTACTAGGAGTTAGGGCTTCAACATATGAATTTTGAGTGAGAATCCAATCGATTACCACCAAACTGGTTGCAAATACAAATAAGCTCCTAACAGGGGGCAGAGAAAGTCTTCACAGAAGAGCAAATATCCAAGCTGAAACTTGAAGGACAAATTTTACCAGGTAAACTATAGACACAAGGACATTGCAGATTCTAAACGACAGCATGTCCAGAGGAAAGAGAAAGCACAGGATGTCGAAAACATTGTAGGTGCATGTTAAAAGAGGCTGTCTATTAAAAGAGAGTG... |
Task1_train_4027 | A sequence alteration has been identified in RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Warburg micro syndrome 1 | CAGTCACATTTTGAGGTACTAGGAGTTAGGGCTTCAACATATGAATTTTGAGTGAGAATCCAATCGATTACCACCAAACTGGTTGCAAATACAAATAAGCTCCTAACAGGGGGCAGAGAAAGTCTTCACAGAAGAGCAAATATCCAAGCTGAAACTTGAAGGACAAATTTTACCAGGTAAACTATAGACACAAGGACATTGCAGATTCTAAACGACAGCATGTCCAGAGGAAAGAGAAAGCACAGGATGTCGAAAACATTGTAGGTGCATGTTAAAAGAGGCTGTCTATTAAAAGAGAGTGGCAGACACAAAAGATGTGC... | CAGTCACATTTTGAGGTACTAGGAGTTAGGGCTTCAACATATGAATTTTGAGTGAGAATCCAATCGATTACCACCAAACTGGTTGCAAATACAAATAAGCTCCTAACAGGGGGCAGAGAAAGTCTTCACAGAAGAGCAAATATCCAAGCTGAAACTTGAAGGACAAATTTTACCAGGTAAACTATAGACACAAGGACATTGCAGATTCTAAACGACAGCATGTCCAGAGGAAAGAGAAAGCACAGGATGTCGAAAACATTGTAGGTGCATGTTAAAAGAGGCTGTCTATTAAAAGAGAGTGGCAGACACAAAAGATGTGC... |
Task1_train_4028 | This mutation occurs in LCT (lactase) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Congenital lactase deficiency | ATTTTTCCACAGACTTGGGGGAGGTAGGGGGGATGATGGGGATGATTTGGGGATGAAATTGTTCCACCTCAGATTATCAGGCATTTGATTCTCATAAGGAGCACGCAACCTGGATCCCTCGCATGCGCAGTTCACAATAGGGTTTGTGCTCCTATCTAATATGGTCGCTGATCTGACAGGAGGTGGAACTCAGGTGGTAATGCTTGCTCGCCTGCCACTCACCTCCTGCTGTGCAGCCAGGTTCCTAACAGGCCATGGACCAGTACTGGTGCTCCGCCTGGGGGCTGGGGACCCCTAAATTAGATCATCTTATTATTTGT... | ATTTTTCCACAGACTTGGGGGAGGTAGGGGGGATGATGGGGATGATTTGGGGATGAAATTGTTCCACCTCAGATTATCAGGCATTTGATTCTCATAAGGAGCACGCAACCTGGATCCCTCGCATGCGCAGTTCACAATAGGGTTTGTGCTCCTATCTAATATGGTCGCTGATCTGACAGGAGGTGGAACTCAGGTGGTAATGCTTGCTCGCCTGCCACTCACCTCCTGCTGTGCAGCCAGGTTCCTAACAGGCCATGGACCAGTACTGGTGCTCCGCCTGGGGGCTGGGGACCCCTAAATTAGATCATCTTATTATTTGT... |
Task1_train_4029 | Mutation context: Chromosome 2, Gene DARS1 (aspartyl-tRNA synthetase 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Hypomyelination with brain stem and spinal cord involvement and leg spasticity | CACCTGTAATCCCAGCACTTTGGGATGCCCAGGCAGGCGGATCACCCCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGAGAAATCCCGTCTCTACTAAAAATACAAAAATTGGCTGGGCATGGTGGTGGGAGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAGAATCGCTTGAACCGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCAAGACTTGTCTCAAAAAAATAAATAAATAAGAGGTCAGGTGCAGCGGCTCACACCTGTAATCCCAGCACTTT... | CACCTGTAATCCCAGCACTTTGGGATGCCCAGGCAGGCGGATCACCCCTGAGGTCAGGAGTTTGAGATCAGCCTGGCCAACATGGAGAAATCCCGTCTCTACTAAAAATACAAAAATTGGCTGGGCATGGTGGTGGGAGCCTGTAATCCCACCTACTTGGGAGGCTGAGGAGAATCGCTTGAACCGGGGAGGTGGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTAGGCCACAGAGCAAGACTTGTCTCAAAAAAATAAATAAATAAGAGGTCAGGTGCAGCGGCTCACACCTGTAATCCCAGCACTTT... |
Task1_train_4030 | With a mutation on Chromosome 2 in gene DARS1 (aspartyl-tRNA synthetase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Hypomyelination with brain stem and spinal cord involvement and leg spasticity | CCTGTCGGGAGGGTGGGGTGGGGGACAGCATTAGGAAAAAGAGCAATGCATGCAGGGCTTCATACCTAGGTGATGGGTTGACAGATGCAGCAAGCCCCCATGGCACATGTTTACCTATGTAACAAACCTGCACATCCTGCACATGTATCCCAGAACTTAAAAAAACAAAAAATAAAAAACCATATGTAACGACCTTAACTGGTGCTATTTATTTTTAAAATTTTGCCCAGCTTTATTGAGTTATAATTGACAAAAATTGTATGTATTTACAGTGTATGATGTGACACTCTGATACACTGTGAAATGATTAAATCAAGCTA... | CCTGTCGGGAGGGTGGGGTGGGGGACAGCATTAGGAAAAAGAGCAATGCATGCAGGGCTTCATACCTAGGTGATGGGTTGACAGATGCAGCAAGCCCCCATGGCACATGTTTACCTATGTAACAAACCTGCACATCCTGCACATGTATCCCAGAACTTAAAAAAACAAAAAATAAAAAACCATATGTAACGACCTTAACTGGTGCTATTTATTTTTAAAATTTTGCCCAGCTTTATTGAGTTATAATTGACAAAAATTGTATGTATTTACAGTGTATGATGTGACACTCTGATACACTGTGAAATGATTAAATCAAGCTA... |
Task1_train_4031 | Given this variant in gene DARS1 (aspartyl-tRNA synthetase 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Hypomyelination with brain stem and spinal cord involvement and leg spasticity | CATTTCCAACTAATCCGACATAGGTATCACTTTTAGAGACACCTCAGAACAACTTCGTAAAAATATTAAATACTGAGTTAATCAGATCATCTGGGAGAAAGGCAGGCTGTCTGAATATTTCTCAATTTTCTAAGAAAAAAATTTTTTTAATGTTGTCCTTCTTCGGTTTTTATTTATTCCAGAATCATACCATTCTAGGAAGCTCAGACCCCTCTGCAATTGTTTTTAGTCCCAAGAGACATTTCAGAATTAGAAAAAGAAATCCAGCATATAAAGAGTCCTACCTTTTCCTTTACCAAATGACCCAACAGCTTTTCATT... | CATTTCCAACTAATCCGACATAGGTATCACTTTTAGAGACACCTCAGAACAACTTCGTAAAAATATTAAATACTGAGTTAATCAGATCATCTGGGAGAAAGGCAGGCTGTCTGAATATTTCTCAATTTTCTAAGAAAAAAATTTTTTTAATGTTGTCCTTCTTCGGTTTTTATTTATTCCAGAATCATACCATTCTAGGAAGCTCAGACCCCTCTGCAATTGTTTTTAGTCCCAAGAGACATTTCAGAATTAGAAAAAGAAATCCAGCATATAAAGAGTCCTACCTTTTCCTTTACCAAATGACCCAACAGCTTTTCATT... |
Task1_train_4032 | Here is a genetic alteration in DARS1 (aspartyl-tRNA synthetase 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Hypomyelination with brain stem and spinal cord involvement and leg spasticity | AGAACATACAAAGAAGGTTTTTATTTTCAAATTGCCACCTTAACTCTACTGAAAAAGTTCAGCAGTAATGGCGTTTGAGTCTAATTTGTAAGTAGAGATTTGATTAATCCCAAGGACTCAAATTCATGCTTGGTCTGTTGTTATAAAAATCAAAGTGGAAATGTCAAACTCTATTATTTAATGGAGAAGCTATCAGTATTTTTAAAAAATGAGTTTCTGAAACTTTCTTGGATTATAAATGCGAACAGAAAATGAGAAAAGCTGTGTGTGCTCCTTCATTGTAGTTCTAAAGTATATTTTGTCTTATAAGGAAAATGTTA... | AGAACATACAAAGAAGGTTTTTATTTTCAAATTGCCACCTTAACTCTACTGAAAAAGTTCAGCAGTAATGGCGTTTGAGTCTAATTTGTAAGTAGAGATTTGATTAATCCCAAGGACTCAAATTCATGCTTGGTCTGTTGTTATAAAAATCAAAGTGGAAATGTCAAACTCTATTATTTAATGGAGAAGCTATCAGTATTTTTAAAAAATGAGTTTCTGAAACTTTCTTGGATTATAAATGCGAACAGAAAATGAGAAAAGCTGTGTGTGCTCCTTCATTGTAGTTCTAAAGTATATTTTGTCTTATAAGGAAAATGTTA... |
Task1_train_4033 | Here is a mutation in DARS1 (aspartyl-tRNA synthetase 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Hypomyelination with brain stem and spinal cord involvement and leg spasticity | TTTTATTTTCAAATTGCCACCTTAACTCTACTGAAAAAGTTCAGCAGTAATGGCGTTTGAGTCTAATTTGTAAGTAGAGATTTGATTAATCCCAAGGACTCAAATTCATGCTTGGTCTGTTGTTATAAAAATCAAAGTGGAAATGTCAAACTCTATTATTTAATGGAGAAGCTATCAGTATTTTTAAAAAATGAGTTTCTGAAACTTTCTTGGATTATAAATGCGAACAGAAAATGAGAAAAGCTGTGTGTGCTCCTTCATTGTAGTTCTAAAGTATATTTTGTCTTATAAGGAAAATGTTATCAGTTGTTCCATGAACC... | TTTTATTTTCAAATTGCCACCTTAACTCTACTGAAAAAGTTCAGCAGTAATGGCGTTTGAGTCTAATTTGTAAGTAGAGATTTGATTAATCCCAAGGACTCAAATTCATGCTTGGTCTGTTGTTATAAAAATCAAAGTGGAAATGTCAAACTCTATTATTTAATGGAGAAGCTATCAGTATTTTTAAAAAATGAGTTTCTGAAACTTTCTTGGATTATAAATGCGAACAGAAAATGAGAAAAGCTGTGTGTGCTCCTTCATTGTAGTTCTAAAGTATATTTTGTCTTATAAGGAAAATGTTATCAGTTGTTCCATGAACC... |
Task1_train_4034 | This variant lies on Chromosome 2 and affects the gene DARS1 (aspartyl-tRNA synthetase 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Hypomyelination with brain stem and spinal cord involvement and leg spasticity | AACTCCTACGGTCGTGCAATAAAAGCCGTACCAAATGTAAATTAATAAGAGAGGTTCATGAGAACCCTGGGGGAATGCAAGATCCTGAGGTGTCTTCTCAATATTTAAAAATATATTCAATTATGACCAAGATAGTGAGTTCTTCTCAATTTTATTAAAACCTGACTCAAACTAAGTGAAACTCTACCAATAAAGTAACATACGTATTCCATTTGACTACAGTAGTCATTTATAGGAATATTTGTGATGTGAAAGATGAGTCGAGCTAGAGTCAGGAAGACTGGACAGGAGGAAAAGGCACTGAGGATATTAAGAGCCAT... | AACTCCTACGGTCGTGCAATAAAAGCCGTACCAAATGTAAATTAATAAGAGAGGTTCATGAGAACCCTGGGGGAATGCAAGATCCTGAGGTGTCTTCTCAATATTTAAAAATATATTCAATTATGACCAAGATAGTGAGTTCTTCTCAATTTTATTAAAACCTGACTCAAACTAAGTGAAACTCTACCAATAAAGTAACATACGTATTCCATTTGACTACAGTAGTCATTTATAGGAATATTTGTGATGTGAAAGATGAGTCGAGCTAGAGTCAGGAAGACTGGACAGGAGGAAAAGGCACTGAGGATATTAAGAGCCAT... |
Task1_train_4035 | This gene mutation involves HNMT (histamine N-methyltransferase) on Chromosome 2. Is it associated with any clinical condition, or is it benign? | Pathogenic; Intellectual disability, autosomal recessive 51 | GTGGGGCAGGGCTTGGGGGCAGGAAAAATTATAGTAAATAACTATAAATAGTAAAGTTGGTTATTGTTGTTGCATATAAAACATTTAAATCCTTGGCTAGAAAATAGTAAGTTTTCAATAATTATTTGATGTCATTATAATATGTGAAATGGGATGAATAATAGTATCTAACTCATAGAGGAATTTCAAGGATTCAAAGAGTTAATTCACATAAATCACTTACATGTACCTAGAATCATAATAATTGCTAATATATGTGGAGTGCTTGTCATGTGCAGATACATTTCTAAGAGATTTGCATGAATTAAATCATTGAATCC... | GTGGGGCAGGGCTTGGGGGCAGGAAAAATTATAGTAAATAACTATAAATAGTAAAGTTGGTTATTGTTGTTGCATATAAAACATTTAAATCCTTGGCTAGAAAATAGTAAGTTTTCAATAATTATTTGATGTCATTATAATATGTGAAATGGGATGAATAATAGTATCTAACTCATAGAGGAATTTCAAGGATTCAAAGAGTTAATTCACATAAATCACTTACATGTACCTAGAATCATAATAATTGCTAATATATGTGGAGTGCTTGTCATGTGCAGATACATTTCTAAGAGATTTGCATGAATTAAATCATTGAATCC... |
Task1_train_4036 | With a mutation on Chromosome 2 in gene KYNU (kynureninase), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Catel-Manzke syndrome | CTGGCTTATACCAGATGTCAAAAGCCAATTATTAAATACTCAGAATTTCTGTTGGTAGTATGAAATCACCCATGATGGGAGTATTTATACCTTGGAAATCTGCAAAGGAGGAAAAACAGTGCTCTAGTCCTCTGGTCTTACCACCCCTTTTAGGGAGTACCAGCCCACCAGCACCAGTTTACTGACACAGATTCAACCCAGGTTGGTACTATACAAAAAGCACATTTTCATTCCTTTCTTTCAAGATGACAAACTTTTGGATTCCTAAAGAATTAAGAACTGTTACCCAGAAAAAATGGGTTTTATTCTTTTGGTGAGTA... | CTGGCTTATACCAGATGTCAAAAGCCAATTATTAAATACTCAGAATTTCTGTTGGTAGTATGAAATCACCCATGATGGGAGTATTTATACCTTGGAAATCTGCAAAGGAGGAAAAACAGTGCTCTAGTCCTCTGGTCTTACCACCCCTTTTAGGGAGTACCAGCCCACCAGCACCAGTTTACTGACACAGATTCAACCCAGGTTGGTACTATACAAAAAGCACATTTTCATTCCTTTCTTTCAAGATGACAAACTTTTGGATTCCTAAAGAATTAAGAACTGTTACCCAGAAAAAATGGGTTTTATTCTTTTGGTGAGTA... |
Task1_train_4037 | A sequence alteration has been identified in KYNU (kynureninase) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Hydroxykynureninuria | TAATGGAATAAAAAGTTCTCACATGAGAGGATATAAATTGAGAGGATATAAATTGTTAATTTCTAGCAAAAATGAACATAGCTGCTAATAATCACATAAGTGACCAATATTGTGGAGTTTCATGAGTTACTCATAATCTTGGGACCACTGTTGAGCATTACCTAGAACAAGTCAACATGAGAGAGGGCCGTATCCTGTCGTTGAAAAATGTATTTCTTATGTGCTTAATACTGATTTTTTAAGATATAAATTAAGTATTAGTATCTATAATATTTTCCTTACCACTTTATTGGAAATTATGGTGGGTAAACCTTATTAGA... | TAATGGAATAAAAAGTTCTCACATGAGAGGATATAAATTGAGAGGATATAAATTGTTAATTTCTAGCAAAAATGAACATAGCTGCTAATAATCACATAAGTGACCAATATTGTGGAGTTTCATGAGTTACTCATAATCTTGGGACCACTGTTGAGCATTACCTAGAACAAGTCAACATGAGAGAGGGCCGTATCCTGTCGTTGAAAAATGTATTTCTTATGTGCTTAATACTGATTTTTTAAGATATAAATTAAGTATTAGTATCTATAATATTTTCCTTACCACTTTATTGGAAATTATGGTGGGTAAACCTTATTAGA... |
Task1_train_4038 | The variant affects gene KYNU (kynureninase), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Congenital NAD deficiency disorder | GGTAGGACTTGGCTGGAGGGGTTCTGCAAGTCTCAGCTGAGCTCATTCATGTTTCTGTGGCAAACTGCAAGGGGTGAGGAGGGCATGGAGGAGCAGCTGATCCAGATTGAGTTCAGGTGAGGATGATTATGCTCCACATTTCTTTTATCTTCCATCTGGGCCAGCAGTTTGGCCCAAGCAAGTCCTTCTCATAGAGATGGCAGAGAGCAAGAGGGAGCAAGCTTAGTCACTCAAGTACTTTTCTGAGACTATTTTTATTACATGTGCTAACATTCTGTTGGTCTAAACAAGTCACATGGCTGATCCCAGTGGCTGAAACT... | GGTAGGACTTGGCTGGAGGGGTTCTGCAAGTCTCAGCTGAGCTCATTCATGTTTCTGTGGCAAACTGCAAGGGGTGAGGAGGGCATGGAGGAGCAGCTGATCCAGATTGAGTTCAGGTGAGGATGATTATGCTCCACATTTCTTTTATCTTCCATCTGGGCCAGCAGTTTGGCCCAAGCAAGTCCTTCTCATAGAGATGGCAGAGAGCAAGAGGGAGCAAGCTTAGTCACTCAAGTACTTTTCTGAGACTATTTTTATTACATGTGCTAACATTCTGTTGGTCTAAACAAGTCACATGGCTGATCCCAGTGGCTGAAACT... |
Task1_train_4039 | A mutation in KYNU (kynureninase), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Vertebral, cardiac, renal, and limb defects syndrome 2 | GGTAGGACTTGGCTGGAGGGGTTCTGCAAGTCTCAGCTGAGCTCATTCATGTTTCTGTGGCAAACTGCAAGGGGTGAGGAGGGCATGGAGGAGCAGCTGATCCAGATTGAGTTCAGGTGAGGATGATTATGCTCCACATTTCTTTTATCTTCCATCTGGGCCAGCAGTTTGGCCCAAGCAAGTCCTTCTCATAGAGATGGCAGAGAGCAAGAGGGAGCAAGCTTAGTCACTCAAGTACTTTTCTGAGACTATTTTTATTACATGTGCTAACATTCTGTTGGTCTAAACAAGTCACATGGCTGATCCCAGTGGCTGAAACT... | GGTAGGACTTGGCTGGAGGGGTTCTGCAAGTCTCAGCTGAGCTCATTCATGTTTCTGTGGCAAACTGCAAGGGGTGAGGAGGGCATGGAGGAGCAGCTGATCCAGATTGAGTTCAGGTGAGGATGATTATGCTCCACATTTCTTTTATCTTCCATCTGGGCCAGCAGTTTGGCCCAAGCAAGTCCTTCTCATAGAGATGGCAGAGAGCAAGAGGGAGCAAGCTTAGTCACTCAAGTACTTTTCTGAGACTATTTTTATTACATGTGCTAACATTCTGTTGGTCTAAACAAGTCACATGGCTGATCCCAGTGGCTGAAACT... |
Task1_train_4040 | This alteration in KYNU (kynureninase) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Catel-Manzke syndrome | TTGAGATGGGTTTTCTTATTTGGAAATAAAGGAATTGAATTTGATCAGGGGTAGCAAACTTTTTCTGTGAAAGGCCAGATAGGAAATATTTTAAGCTTTCTAGGCTATACAGTCTCTGTGGCAAATACTCAATTCCGTCATTGTGGTGGTAAAGCAGCCATAGGTGATACATAAGTGAAAGATTGTGGCTATGTTTTCATAAAACTGTATTTTAAAAAGCAGGGCCTGGCACGAAGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCAAGGCAGATGGATCAATTGATCACAGGAGTTTGAGACCAGCCTGGGTGACA... | TTGAGATGGGTTTTCTTATTTGGAAATAAAGGAATTGAATTTGATCAGGGGTAGCAAACTTTTTCTGTGAAAGGCCAGATAGGAAATATTTTAAGCTTTCTAGGCTATACAGTCTCTGTGGCAAATACTCAATTCCGTCATTGTGGTGGTAAAGCAGCCATAGGTGATACATAAGTGAAAGATTGTGGCTATGTTTTCATAAAACTGTATTTTAAAAAGCAGGGCCTGGCACGAAGACTCACGCCTGTAATCCCAGCACTTTGGGAGGCAAGGCAGATGGATCAATTGATCACAGGAGTTTGAGACCAGCCTGGGTGACA... |
Task1_train_4041 | This alteration in ZEB2 (zinc finger E-box binding homeobox 2) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Mowat-Wilson syndrome | GAAGTGAATTTTTAACACATAATCTCTAAATACTCGTAATGCAAAAGTAGAAATGTCTGTAAAGTAAATAGACTAAATTTGAATAATATAACCTCACATAAAAATACACAATCTGGAATCAGGATCAGTTGAGAAAAGCTGTAAAATTGCTGTACATAGGTATGGAATTTTAAAAAACAGTTATTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTAC... | GAAGTGAATTTTTAACACATAATCTCTAAATACTCGTAATGCAAAAGTAGAAATGTCTGTAAAGTAAATAGACTAAATTTGAATAATATAACCTCACATAAAAATACACAATCTGGAATCAGGATCAGTTGAGAAAAGCTGTAAAATTGCTGTACATAGGTATGGAATTTTAAAAAACAGTTATTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTAC... |
Task1_train_4042 | A genomic change on Chromosome 2 affects ZEB2 (zinc finger E-box binding homeobox 2). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Mowat-Wilson syndrome | GGAATCAGGATCAGTTGAGAAAAGCTGTAAAATTGCTGTACATAGGTATGGAATTTTAAAAAACAGTTATTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGT... | GGAATCAGGATCAGTTGAGAAAAGCTGTAAAATTGCTGTACATAGGTATGGAATTTTAAAAAACAGTTATTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGT... |
Task1_train_4043 | The gene ZEB2 (zinc finger E-box binding homeobox 2) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | CTGTAAAATTGCTGTACATAGGTATGGAATTTTAAAAAACAGTTATTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCC... | CTGTAAAATTGCTGTACATAGGTATGGAATTTTAAAAAACAGTTATTGGTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCC... |
Task1_train_4044 | This sequence variant lies in ZEB2 (zinc finger E-box binding homeobox 2) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Mowat-Wilson syndrome | GTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGA... | GTACCAGTCAAAATTATTGCTAAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGA... |
Task1_train_4045 | A variant on Chromosome 2 in gene ZEB2 (zinc finger E-box binding homeobox 2) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; Neurodevelopmental disorder | AAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGA... | AAACTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGA... |
Task1_train_4046 | This variant affects the gene ZEB2 (zinc finger E-box binding homeobox 2) found on Chromosome 2. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable. | Pathogenic; Smith-Magenis Syndrome-like | CTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGATCG... | CTAAAATTATATGAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGATCG... |
Task1_train_4047 | The following genetic variant occurs in ZEB2 (zinc finger E-box binding homeobox 2) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Mowat-Wilson syndrome | GAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGATCGTATCAAAAGTTC... | GAAAAAAACATAATTAGCATTATTATAAGCATAAAGCATGTTACATGTTAATGGTCATTGAAGGAAAACTCTCTAAAAGTACAGAACTCATTAACTACATTCTTAGTTTGGCTACATTTTTATTCGAGCATGGTCATTTTCAAAAGAAATTACAAATTGAAAATTCAATAATACTTTTACAAAGACAATTCAGGAAAGATTTTTGTCATGGTATCATACATTGTATTTAACAGTCCCTCTTTTTAGCTAAAAAACAAGATGAAGAAAGTGGAATTTTCAGTCGAAAATACAGTGTTTTCACAAGATCGTATCAAAAGTTC... |
Task1_train_4048 | Mutation context: Chromosome 2, Gene ORC4 (origin recognition complex subunit 4). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Meier-Gorlin syndrome 2 | CAGATAATCTACCATACTCTTTAAAAAGATGGACCATTAAAGTCGTTCCTTTTTTGGATCTGCAGCTAATACAGAGGTCTTTCAAGGACAACAACCTGAGGGTGCTATCTCAGATTTGGCCCCATGAACTGGAATAAAAAGGCTCCAAGAATATTTGCTTCTCCTAGACTGACAGCATGGAACTAATCCTTCATGTACCAAAGAAGTAAATCTGAGTTCTTGTTCCATGTACAGAGGCAAAGCAAAGAAAATGATTCATTAGGGACAAAACAATACATACTTGTTCATTATCGAGGAAGTTAAAGAGTAAGGACATTGGC... | CAGATAATCTACCATACTCTTTAAAAAGATGGACCATTAAAGTCGTTCCTTTTTTGGATCTGCAGCTAATACAGAGGTCTTTCAAGGACAACAACCTGAGGGTGCTATCTCAGATTTGGCCCCATGAACTGGAATAAAAAGGCTCCAAGAATATTTGCTTCTCCTAGACTGACAGCATGGAACTAATCCTTCATGTACCAAAGAAGTAAATCTGAGTTCTTGTTCCATGTACAGAGGCAAAGCAAAGAAAATGATTCATTAGGGACAAAACAATACATACTTGTTCATTATCGAGGAAGTTAAAGAGTAAGGACATTGGC... |
Task1_train_4049 | A variant has been detected on Chromosome 2 in KIF5C (kinesin family member 5C). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Complex cortical dysplasia with other brain malformations 2 | GCTGTTTCCTTGGGTGTGGCCGGTTGCTCAGTACCACCTCCCTGGGGCCTCCTGCGTGGGAACATCGGCCCTTGCAGGGTGGCTAGCAGAGGTCAGGATGGCTGGACCCCTGGCCCTGGCAACTTCGGTGCTGTTCTAACACCTAGGCCGGTGGGTTCCAGAGTGTTTCATACACAGAGGCTTAAGACAAGGAAAGCCCTTTCAGGGTGTGTGTGTGTGTGTGTGTGTGTGTATAGGGGGGATGGTTAATTTCTAATAAATGGTAATTTCGAATAAATGGAAACTGTGATATTGTGATGTAGCCAGCATTCCAATAGGCT... | GCTGTTTCCTTGGGTGTGGCCGGTTGCTCAGTACCACCTCCCTGGGGCCTCCTGCGTGGGAACATCGGCCCTTGCAGGGTGGCTAGCAGAGGTCAGGATGGCTGGACCCCTGGCCCTGGCAACTTCGGTGCTGTTCTAACACCTAGGCCGGTGGGTTCCAGAGTGTTTCATACACAGAGGCTTAAGACAAGGAAAGCCCTTTCAGGGTGTGTGTGTGTGTGTGTGTGTGTGTATAGGGGGGATGGTTAATTTCTAATAAATGGTAATTTCGAATAAATGGAAACTGTGATATTGTGATGTAGCCAGCATTCCAATAGGCT... |
Task1_train_4050 | A sequence alteration has been identified in KIF5C (kinesin family member 5C) on Chromosome 2. Is it disease-inducing or harmless? | Pathogenic; Complex cortical dysplasia with other brain malformations 2 | GTGTGGCCGGTTGCTCAGTACCACCTCCCTGGGGCCTCCTGCGTGGGAACATCGGCCCTTGCAGGGTGGCTAGCAGAGGTCAGGATGGCTGGACCCCTGGCCCTGGCAACTTCGGTGCTGTTCTAACACCTAGGCCGGTGGGTTCCAGAGTGTTTCATACACAGAGGCTTAAGACAAGGAAAGCCCTTTCAGGGTGTGTGTGTGTGTGTGTGTGTGTGTATAGGGGGGATGGTTAATTTCTAATAAATGGTAATTTCGAATAAATGGAAACTGTGATATTGTGATGTAGCCAGCATTCCAATAGGCTGGAGTTTTTTGTG... | GTGTGGCCGGTTGCTCAGTACCACCTCCCTGGGGCCTCCTGCGTGGGAACATCGGCCCTTGCAGGGTGGCTAGCAGAGGTCAGGATGGCTGGACCCCTGGCCCTGGCAACTTCGGTGCTGTTCTAACACCTAGGCCGGTGGGTTCCAGAGTGTTTCATACACAGAGGCTTAAGACAAGGAAAGCCCTTTCAGGGTGTGTGTGTGTGTGTGTGTGTGTGTATAGGGGGGATGGTTAATTTCTAATAAATGGTAATTTCGAATAAATGGAAACTGTGATATTGTGATGTAGCCAGCATTCCAATAGGCTGGAGTTTTTTGTG... |
Task1_train_4051 | A mutation in KIF5C (kinesin family member 5C), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Complex cortical dysplasia with other brain malformations 2 | GGTCTGTATTTATTTTTTAATCAGGTTAATTTGTTGTTGTTGACTTGGAGTTCTCTATGTATTCTGGACATCAATCCCTTATTAGATATATGATTTATAAAATTTTCTTCTATTCCATGGATTGCTTTTTTACACTATTGATAGTGTCTTTTGATATAAAAGTTTTTAATTTTGATGAAGTGTCTATTTTTATTTTGTTGCTTGTGCTTTGGGTGTCATATCCAAGAAATTATTGCCAAGTCCAATGTCATGAAGCTTTTCTCCTGTGTTTTCTTCTAAGAGTTTTATAGTTTTAGTTTTTATATGTAGGTATTTGATCC... | GGTCTGTATTTATTTTTTAATCAGGTTAATTTGTTGTTGTTGACTTGGAGTTCTCTATGTATTCTGGACATCAATCCCTTATTAGATATATGATTTATAAAATTTTCTTCTATTCCATGGATTGCTTTTTTACACTATTGATAGTGTCTTTTGATATAAAAGTTTTTAATTTTGATGAAGTGTCTATTTTTATTTTGTTGCTTGTGCTTTGGGTGTCATATCCAAGAAATTATTGCCAAGTCCAATGTCATGAAGCTTTTCTCCTGTGTTTTCTTCTAAGAGTTTTATAGTTTTAGTTTTTATATGTAGGTATTTGATCC... |
Task1_train_4052 | This genomic variant is located on Chromosome 2, within the KIF5C (kinesin family member 5C) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Complex cortical dysplasia with other brain malformations 2 | GTCTGTATTTATTTTTTAATCAGGTTAATTTGTTGTTGTTGACTTGGAGTTCTCTATGTATTCTGGACATCAATCCCTTATTAGATATATGATTTATAAAATTTTCTTCTATTCCATGGATTGCTTTTTTACACTATTGATAGTGTCTTTTGATATAAAAGTTTTTAATTTTGATGAAGTGTCTATTTTTATTTTGTTGCTTGTGCTTTGGGTGTCATATCCAAGAAATTATTGCCAAGTCCAATGTCATGAAGCTTTTCTCCTGTGTTTTCTTCTAAGAGTTTTATAGTTTTAGTTTTTATATGTAGGTATTTGATCCT... | GTCTGTATTTATTTTTTAATCAGGTTAATTTGTTGTTGTTGACTTGGAGTTCTCTATGTATTCTGGACATCAATCCCTTATTAGATATATGATTTATAAAATTTTCTTCTATTCCATGGATTGCTTTTTTACACTATTGATAGTGTCTTTTGATATAAAAGTTTTTAATTTTGATGAAGTGTCTATTTTTATTTTGTTGCTTGTGCTTTGGGTGTCATATCCAAGAAATTATTGCCAAGTCCAATGTCATGAAGCTTTTCTCCTGTGTTTTCTTCTAAGAGTTTTATAGTTTTAGTTTTTATATGTAGGTATTTGATCCT... |
Task1_train_4053 | This mutation occurs in MMADHC (metabolism of cobalamin associated D) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE | ACTACTGAATATGGCTTAGAAAATAGTCATTAGAATGTATTTCAATTTAATGAACAGATGTGTCATACATAAACACTACAAGGAGAGCAAAACAATGAAATGCGATCAAATGTTTACAAAGGTTAACTGAAAGAATCTCAAATTAAAACAAAAAAACCAGCTGAAGTATTTTTCTTAGGATTTCTGTTCACCAACACTGACATCTGCTGGAAAAAATTAGAACAGATTTAAACCATAAAATATCAAATATTTACTTGGAGAGCTAGGTGTGGTTCCAAAATAATCATGAAGAAATCTTTAAAAAAAAAAATCTTTTTTCA... | ACTACTGAATATGGCTTAGAAAATAGTCATTAGAATGTATTTCAATTTAATGAACAGATGTGTCATACATAAACACTACAAGGAGAGCAAAACAATGAAATGCGATCAAATGTTTACAAAGGTTAACTGAAAGAATCTCAAATTAAAACAAAAAAACCAGCTGAAGTATTTTTCTTAGGATTTCTGTTCACCAACACTGACATCTGCTGGAAAAAATTAGAACAGATTTAAACCATAAAATATCAAATATTTACTTGGAGAGCTAGGTGTGGTTCCAAAATAATCATGAAGAAATCTTTAAAAAAAAAAATCTTTTTTCA... |
Task1_train_4054 | This mutation occurs in NEB, RIF1 (nebulin| replication timing regulatory factor 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Arthrogryposis multiplex congenita 6 | CCGAGAATTAGAAAAGCTATTAAAAGTTTATACTGTTGATTCATAGAAGGCCTGAACTGAGAAACTATATTAAATACCAATCTTCAGTATATTAAAAATCAAAAATGGCAGATAACTTCAGAAGAGGCAGAGGTTTCTTTGGTTGAAGATGAGATTCTCAGTTTGTTTTCATTTCATCATTTAACTTGATCAGTGTCAGCAACCTAACATACACATACATTAGGAGTCCATCTCTGAGTCTAGTCTACCTTCCTATTCCAAGTGGTATGTTCCAGATGGAAAGTTTCATGCAGGAAAAGAAGGGTGTATGCAAAAGTATA... | CCGAGAATTAGAAAAGCTATTAAAAGTTTATACTGTTGATTCATAGAAGGCCTGAACTGAGAAACTATATTAAATACCAATCTTCAGTATATTAAAAATCAAAAATGGCAGATAACTTCAGAAGAGGCAGAGGTTTCTTTGGTTGAAGATGAGATTCTCAGTTTGTTTTCATTTCATCATTTAACTTGATCAGTGTCAGCAACCTAACATACACATACATTAGGAGTCCATCTCTGAGTCTAGTCTACCTTCCTATTCCAAGTGGTATGTTCCAGATGGAAAGTTTCATGCAGGAAAAGAAGGGTGTATGCAAAAGTATA... |
Task1_train_4055 | A mutation found in NEB, RIF1 (nebulin| replication timing regulatory factor 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Nemaline myopathy | AGTTAGAATTTCATTGCTCTTCATGTTAAATCTATCCCAGGTGACTCAAGTATGAATCAGACCCCGAGGATGAAACTCTTAAGGCCTGGGGAGAGGTTCCAGTAGGATCTCATGAACTGATGTTTTTGTCACATAAAGATAGTTAAGCACACAGACACCCAGACAAATGCCCATAAATGGTAAAGTGGAGAACAAGAAAGGTCTAGACAGCTTAGAGGGAAACGAGAAAAGGCCCTCAGTGCACTTTTTATAACTCTTGGAAGCTTTGCAGTACTATTACAGACCCAGCATCCCTTTGCATTTTCAATCTGGAAATCACT... | AGTTAGAATTTCATTGCTCTTCATGTTAAATCTATCCCAGGTGACTCAAGTATGAATCAGACCCCGAGGATGAAACTCTTAAGGCCTGGGGAGAGGTTCCAGTAGGATCTCATGAACTGATGTTTTTGTCACATAAAGATAGTTAAGCACACAGACACCCAGACAAATGCCCATAAATGGTAAAGTGGAGAACAAGAAAGGTCTAGACAGCTTAGAGGGAAACGAGAAAAGGCCCTCAGTGCACTTTTTATAACTCTTGGAAGCTTTGCAGTACTATTACAGACCCAGCATCCCTTTGCATTTTCAATCTGGAAATCACT... |
Task1_train_4056 | Gene NEB (nebulin) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Nemaline myopathy | TATGCGGCCAACAAATATATGAAAAAATGCTCATCATCACTGGTCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACGCCAGTTAGAATGGTGATCATTACAAAGTCAGGAAACAACAGATGCTGGAGAGGATGTAAAGAAATAGGAAGACTTTTACACTGTTGGTGGGAGTGTAAACTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCAAGGATCTAGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAATGGATTATAAATCATTCTACTATAAAGACAC... | TATGCGGCCAACAAATATATGAAAAAATGCTCATCATCACTGGTCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACGCCAGTTAGAATGGTGATCATTACAAAGTCAGGAAACAACAGATGCTGGAGAGGATGTAAAGAAATAGGAAGACTTTTACACTGTTGGTGGGAGTGTAAACTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCAAGGATCTAGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAATGGATTATAAATCATTCTACTATAAAGACAC... |
Task1_train_4057 | Consider a variant on Chromosome 2 in gene NR4A2 (nuclear receptor subfamily 4 group A member 2). Determine its clinical classification and disease relevance. | Pathogenic; not provided | AACAACTAATTACTTGAAGAGCAATAAATGAGGGATTTAAGAGTCACCTAATTACTGAAGAGTTAATAAAATGTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCC... | AACAACTAATTACTTGAAGAGCAATAAATGAGGGATTTAAGAGTCACCTAATTACTGAAGAGTTAATAAAATGTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCC... |
Task1_train_4058 | A change on Chromosome 2 affects gene NR4A2 (nuclear receptor subfamily 4 group A member 2). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | CTTGAAGAGCAATAAATGAGGGATTTAAGAGTCACCTAATTACTGAAGAGTTAATAAAATGTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCCCTCCCTCCCTTA... | CTTGAAGAGCAATAAATGAGGGATTTAAGAGTCACCTAATTACTGAAGAGTTAATAAAATGTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCCCTCCCTCCCTTA... |
Task1_train_4059 | This mutation occurs in NR4A2 (nuclear receptor subfamily 4 group A member 2) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | CTGAAGAGTTAATAAAATGTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCCCTCCCTCCCTTATTACCTGTATGCTAATCGAAGGACAAACAGTTCTAAGAAAGC... | CTGAAGAGTTAATAAAATGTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCCCTCCCTCCCTTATTACCTGTATGCTAATCGAAGGACAAACAGTTCTAAGAAAGC... |
Task1_train_4060 | The gene NR4A2 (nuclear receptor subfamily 4 group A member 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Parkinson disease, late-onset | GTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCCCTCCCTCCCTTATTACCTGTATGCTAATCGAAGGACAAACAGTTCTAAGAAAGCTGATTCAAAAAGCAGGTC... | GTAGACCAGTGGACCTTGAAAGGGTTTAATTTCATAACAATCAAGAACGCCCCCTATCCCACCTCCATTCCATTCATCCAAGGCTTCTGGGCTCGCTTCTTCTCGTCTTTTTTTGTTTTCTTTCTTTTTCTTCCTTTCTCCGACTTCCATTTCCTATTCTGTCTTTTTCTCTACCCCACCCTCTGGTTTCCCTTCCTCCCTTTCTTTTCCTTTCTTGATTTCTCTCACAGCCTCCCTGGATTGTCTCCCTCCCTCCCTTATTACCTGTATGCTAATCGAAGGACAAACAGTTCTAAGAAAGCTGATTCAAAAAGCAGGTC... |
Task1_train_4061 | The gene NR4A2 (nuclear receptor subfamily 4 group A member 2), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | TCCTCCAATTAAAGCCCGCATATTTTTCACAGCTGGAGTAAAAAGGATCTGACCACTTGATCCCCCACCCCACTGGCATTCTTTACACCCTCTCCTTCCCTTCCCTGACCCCCAGACAGGCCCCCACATCCTTCCCCAGCACAGTGCCAGGAAGGATGAGGATTAAAGCATCTATCTCTATGGAGGACTGGGAATAAAGTAGATTGGGAAGGGGGAGAGTTTGCACAGCCCCTGGATTTCATGGTAGAGGCACTGGTGTATATGGAAGAGGAGGGGCGATGGGGTAGTGGGGTAGTGGGAATTCACACAGCTTCAAACCC... | TCCTCCAATTAAAGCCCGCATATTTTTCACAGCTGGAGTAAAAAGGATCTGACCACTTGATCCCCCACCCCACTGGCATTCTTTACACCCTCTCCTTCCCTTCCCTGACCCCCAGACAGGCCCCCACATCCTTCCCCAGCACAGTGCCAGGAAGGATGAGGATTAAAGCATCTATCTCTATGGAGGACTGGGAATAAAGTAGATTGGGAAGGGGGAGAGTTTGCACAGCCCCTGGATTTCATGGTAGAGGCACTGGTGTATATGGAAGAGGAGGGGCGATGGGGTAGTGGGGTAGTGGGAATTCACACAGCTTCAAACCC... |
Task1_train_4062 | This alteration occurs within gene GPD2 (glycerol-3-phosphate dehydrogenase 2) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Type 2 diabetes mellitus | CTTTTTTAAGCTCAAAGAATTATTCACGTTGATAATTTTTAATTTTGTTATTTAAGAACATGAAGGAAGAATGTTTCTAGTATCTATTTCCTAAGAAAAGGAAAGCAGGAAAGGAATCATGTCAGAAAAATCAACTGATGGCTGGGCACAGTGCTTCATGCCTATAATCCCAGCACTTTGGAAAGCTGAGGTGGGAGAATCAATCACTTGAGCCCAGTAGTTCAAGACCAGCCTAGGCATCACAGGGAGACCCCATCTCTACAAATAATAATAATAAAAAATTAGCCAGGCATAGTGGCATATGCCTGTAATCCCAGCCA... | CTTTTTTAAGCTCAAAGAATTATTCACGTTGATAATTTTTAATTTTGTTATTTAAGAACATGAAGGAAGAATGTTTCTAGTATCTATTTCCTAAGAAAAGGAAAGCAGGAAAGGAATCATGTCAGAAAAATCAACTGATGGCTGGGCACAGTGCTTCATGCCTATAATCCCAGCACTTTGGAAAGCTGAGGTGGGAGAATCAATCACTTGAGCCCAGTAGTTCAAGACCAGCCTAGGCATCACAGGGAGACCCCATCTCTACAAATAATAATAATAAAAAATTAGCCAGGCATAGTGGCATATGCCTGTAATCCCAGCCA... |
Task1_train_4063 | A mutation in ACVR1 (activin A receptor type 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Progressive myositis ossificans | AGTCAATCGGATACAACAAAAGAATTGGTAACAGGGAAGTCTGTAACAATAAATACCTACATCAGAAAAGCTGAAAGATTCCAAATAAAGAATCTAAAGATGGGCCTCAAGGAACTAGAAAAGCAAGAACAAACCAAACCCAAAATTAATAGAATAAGAAAGGTCATAGCAAAACTAAACAAAATAGAGACCAAAAAGTAATCATACAAAGGATTAATGAAATAAAAAGTTAGTTTGTTGGAAAGGTAAAGAAAACTGATAAACTGTTAACTACACTAACCAAGAAACAAGGAGAGAAGACTCAAATAAATAAAATCAGA... | AGTCAATCGGATACAACAAAAGAATTGGTAACAGGGAAGTCTGTAACAATAAATACCTACATCAGAAAAGCTGAAAGATTCCAAATAAAGAATCTAAAGATGGGCCTCAAGGAACTAGAAAAGCAAGAACAAACCAAACCCAAAATTAATAGAATAAGAAAGGTCATAGCAAAACTAAACAAAATAGAGACCAAAAAGTAATCATACAAAGGATTAATGAAATAAAAAGTTAGTTTGTTGGAAAGGTAAAGAAAACTGATAAACTGTTAACTACACTAACCAAGAAACAAGGAGAGAAGACTCAAATAAATAAAATCAGA... |
Task1_train_4064 | Chromosome 2 houses a mutation in gene ACVR1 (activin A receptor type 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; Progressive myositis ossificans | TACATCAGAAAAGCTGAAAGATTCCAAATAAAGAATCTAAAGATGGGCCTCAAGGAACTAGAAAAGCAAGAACAAACCAAACCCAAAATTAATAGAATAAGAAAGGTCATAGCAAAACTAAACAAAATAGAGACCAAAAAGTAATCATACAAAGGATTAATGAAATAAAAAGTTAGTTTGTTGGAAAGGTAAAGAAAACTGATAAACTGTTAACTACACTAACCAAGAAACAAGGAGAGAAGACTCAAATAAATAAAATCAGAAACAAAAAAGAAGACATTACAGCTGATACCACAAGAATACAAAAATCATCAGAGATT... | TACATCAGAAAAGCTGAAAGATTCCAAATAAAGAATCTAAAGATGGGCCTCAAGGAACTAGAAAAGCAAGAACAAACCAAACCCAAAATTAATAGAATAAGAAAGGTCATAGCAAAACTAAACAAAATAGAGACCAAAAAGTAATCATACAAAGGATTAATGAAATAAAAAGTTAGTTTGTTGGAAAGGTAAAGAAAACTGATAAACTGTTAACTACACTAACCAAGAAACAAGGAGAGAAGACTCAAATAAATAAAATCAGAAACAAAAAAGAAGACATTACAGCTGATACCACAAGAATACAAAAATCATCAGAGATT... |
Task1_train_4065 | Gene ACVR1 (activin A receptor type 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Progressive myositis ossificans | AGCTGGACTTACTGCAAAGTTCCCCTCAACTCCTTCCCTACCAAGTCCCATAAACCAAAACCAAGAGCCACCTCAATTTGTCCACCCTCCCCAGACCACTGGATTATAACAGAAGCTACAACTTGAATCCTTATTGTTTACCAGACATTTATAATACTTCTGGGCCTTACCAGAATCCGGTGAGGTGGGCTTATTTTTTAGTTACATGAGTAATATATGATCACACTATATATATATTTTTTTTTAGACGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATAGCGCGACCTCGGCTCACTGCAACCTCCGCCTCCTG... | AGCTGGACTTACTGCAAAGTTCCCCTCAACTCCTTCCCTACCAAGTCCCATAAACCAAAACCAAGAGCCACCTCAATTTGTCCACCCTCCCCAGACCACTGGATTATAACAGAAGCTACAACTTGAATCCTTATTGTTTACCAGACATTTATAATACTTCTGGGCCTTACCAGAATCCGGTGAGGTGGGCTTATTTTTTAGTTACATGAGTAATATATGATCACACTATATATATATTTTTTTTTAGACGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATAGCGCGACCTCGGCTCACTGCAACCTCCGCCTCCTG... |
Task1_train_4066 | A change on Chromosome 2 affects gene ACVR1 (activin A receptor type 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; not provided | AGCTGGACTTACTGCAAAGTTCCCCTCAACTCCTTCCCTACCAAGTCCCATAAACCAAAACCAAGAGCCACCTCAATTTGTCCACCCTCCCCAGACCACTGGATTATAACAGAAGCTACAACTTGAATCCTTATTGTTTACCAGACATTTATAATACTTCTGGGCCTTACCAGAATCCGGTGAGGTGGGCTTATTTTTTAGTTACATGAGTAATATATGATCACACTATATATATATTTTTTTTTAGACGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATAGCGCGACCTCGGCTCACTGCAACCTCCGCCTCCTG... | AGCTGGACTTACTGCAAAGTTCCCCTCAACTCCTTCCCTACCAAGTCCCATAAACCAAAACCAAGAGCCACCTCAATTTGTCCACCCTCCCCAGACCACTGGATTATAACAGAAGCTACAACTTGAATCCTTATTGTTTACCAGACATTTATAATACTTCTGGGCCTTACCAGAATCCGGTGAGGTGGGCTTATTTTTTAGTTACATGAGTAATATATGATCACACTATATATATATTTTTTTTTAGACGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAATAGCGCGACCTCGGCTCACTGCAACCTCCGCCTCCTG... |
Task1_train_4067 | Here is a variant affecting ACVR1 (activin A receptor type 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Progressive myositis ossificans | AGTTTGAACCAAATAATACTAATCTTTAATGATTTTCTTAAAAAATACCCCAAACTCTAACAGCACCACTCAAAAGAAATTAAATTACTGTTATATATCTGTGTAGCCTCTACTGATTTCCTCTCCCAAGAAAAAGGAGCTTCTGATTAAATAAATAAATAATAAACGAATACATTTTTATTATCTCACCTTCACTAAGCCCCTTAGGTCTTAGGGAAGAAGTTTATCTGTCCCATTAATTATGCTCTAGACCATCAGGAAAAAAATTACTTTTAAATAAGCAGGGTTTTCTTTTTAACTGTTTATCTCTTAAGCGTGAA... | AGTTTGAACCAAATAATACTAATCTTTAATGATTTTCTTAAAAAATACCCCAAACTCTAACAGCACCACTCAAAAGAAATTAAATTACTGTTATATATCTGTGTAGCCTCTACTGATTTCCTCTCCCAAGAAAAAGGAGCTTCTGATTAAATAAATAAATAATAAACGAATACATTTTTATTATCTCACCTTCACTAAGCCCCTTAGGTCTTAGGGAAGAAGTTTATCTGTCCCATTAATTATGCTCTAGACCATCAGGAAAAAAATTACTTTTAAATAAGCAGGGTTTTCTTTTTAACTGTTTATCTCTTAAGCGTGAA... |
Task1_train_4068 | Here is a genetic alteration in ACVR1 (activin A receptor type 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Epicanthus | CTCAAATCCTTTTTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCA... | CTCAAATCCTTTTTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCA... |
Task1_train_4069 | A mutation in ACVR1 (activin A receptor type 1), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Progressive myositis ossificans | CTCAAATCCTTTTTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCA... | CTCAAATCCTTTTTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCA... |
Task1_train_4070 | Located on Chromosome 2, this mutation impacts ACVR1 (activin A receptor type 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Inborn genetic diseases | CTCAAATCCTTTTTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCA... | CTCAAATCCTTTTTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCA... |
Task1_train_4071 | Consider a variant on Chromosome 2 in gene ACVR1 (activin A receptor type 1). Determine its clinical classification and disease relevance. | Pathogenic; Progressive myositis ossificans | TTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCACATATATTTTTA... | TTTTGGTTGTTGTTTTAAAGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCACATATATTTTTA... |
Task1_train_4072 | The gene ACVR1 (activin A receptor type 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Progressive myositis ossificans | AGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCACATATATTTTTACTAAAAGCTGTACCACAT... | AGAAAACAGAAGATGAATGTCGAGGTAGGTAAATTAAAATAGAAATATTGTTCAATGGTTTTCAAATGCTTTTAAGTTGTTAAATGCTTTTTGCAAATTCATCATTATGCAGAAGCCCCTAAAACAAAAGCAGAGCTGCCCAAAAGCCCTGGCCATGGAGCCCCACAAAAAGGCTCCCTTAAGGCACCTGAAATTTGTAGTTTCACTGATCGTCATCCAGAAATGACTCCCCTAACCCAACTTCCCATGTTTTTGAACCAAAAATAACATACCATCCATGCAGTTCATCACATATATTTTTACTAAAAGCTGTACCACAT... |
Task1_train_4073 | An alteration has been detected in BAZ2B (bromodomain adjacent to zinc finger domain 2B) on Chromosome 2. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Neurodevelopmental disorder | CTTGTATGTAAGGAAGTTCATGGCCCTATATGAAACACTACAATAGGAGTTTGATAATATTTGTACTAGATCATCACATTCATCTCAGTGAAACTGGAATTCTGCTGGTAGTAAAGAACTGCGCATCGGAAATAATACCTCTGAATACCATTAAGGAGGTAGCAAGATTACTAAAAAGAACATGGGCTCTGGAGTCAGACTTGGTTTAAATGCACATTTAGGCACTTACTATATGACCATTGGCACATTACTTACTCTGAGCCTGGTTCCTTAACAGATGGGGCAAATTAATCCAGGATTGTTTTCAGAATTAAATGAGA... | CTTGTATGTAAGGAAGTTCATGGCCCTATATGAAACACTACAATAGGAGTTTGATAATATTTGTACTAGATCATCACATTCATCTCAGTGAAACTGGAATTCTGCTGGTAGTAAAGAACTGCGCATCGGAAATAATACCTCTGAATACCATTAAGGAGGTAGCAAGATTACTAAAAAGAACATGGGCTCTGGAGTCAGACTTGGTTTAAATGCACATTTAGGCACTTACTATATGACCATTGGCACATTACTTACTCTGAGCCTGGTTCCTTAACAGATGGGGCAAATTAATCCAGGATTGTTTTCAGAATTAAATGAGA... |
Task1_train_4074 | The variant affects gene BAZ2B (bromodomain adjacent to zinc finger domain 2B), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary. | Pathogenic; Neurodevelopmental disorder | TATCTTCACAAAAACTTCTCACAGTCTCATGTACTCCTGCCCTTTGCCATCTGATTTGCTCTTGGTTCTTTTTCAGTCATGTTCCTACTTGGCTGTATCATCCCACCCCAGCTCTGCCATACCTCCAGGAAACAGGATTAATTTCAGTTTTCTGATATACCAAATTCCTTGCCCTTTGCTCCGGCTCTTCTGCTCTAATAAATACTATGCAGCTATGTACTTCTTCTATTAATTGTAGAGAATGAGAAATCAAGTATACATCAAACTTGCATAAATATATGGGGGAAAAAGAAAAAGGAAAACCTTATTTTGCATACCCA... | TATCTTCACAAAAACTTCTCACAGTCTCATGTACTCCTGCCCTTTGCCATCTGATTTGCTCTTGGTTCTTTTTCAGTCATGTTCCTACTTGGCTGTATCATCCCACCCCAGCTCTGCCATACCTCCAGGAAACAGGATTAATTTCAGTTTTCTGATATACCAAATTCCTTGCCCTTTGCTCCGGCTCTTCTGCTCTAATAAATACTATGCAGCTATGTACTTCTTCTATTAATTGTAGAGAATGAGAAATCAAGTATACATCAAACTTGCATAAATATATGGGGGAAAAAGAAAAAGGAAAACCTTATTTTGCATACCCA... |
Task1_train_4075 | This sequence variant lies in BAZ2B (bromodomain adjacent to zinc finger domain 2B) on Chromosome 2. Is it clinically significant, and what condition might it cause if any? | Pathogenic; BAZ2B-related disorder | ACATTTCTTTAGGAATACTATGTATGTTAAAGACTAATTCAGAAATAAATAAGACAGCAGATTAGAATACACTGAAAGCTCACAACAAGGGTAAGAGAAAGAAGAATTACAAAAACAGGAAAATATAACTACACAAGTACAATTGTGTGCAATCATTTACACAAATTTATCTAAGGTAAAAAGTCAATCATAGCATCGCTATTTTTGAGCACAGTATATCATCAGAGGCTTGGACACTTACAGTCCAGCCATCATTTTGCGTATAAGGGAAATGTGAACAAACTTGTTAATTACTTGATGAAGACTGTACACAAGGTGGA... | ACATTTCTTTAGGAATACTATGTATGTTAAAGACTAATTCAGAAATAAATAAGACAGCAGATTAGAATACACTGAAAGCTCACAACAAGGGTAAGAGAAAGAAGAATTACAAAAACAGGAAAATATAACTACACAAGTACAATTGTGTGCAATCATTTACACAAATTTATCTAAGGTAAAAAGTCAATCATAGCATCGCTATTTTTGAGCACAGTATATCATCAGAGGCTTGGACACTTACAGTCCAGCCATCATTTTGCGTATAAGGGAAATGTGAACAAACTTGTTAATTACTTGATGAAGACTGTACACAAGGTGGA... |
Task1_train_4076 | This is a variant in ITGB6 (integrin subunit beta 6), located on Chromosome 2. Is this mutation a likely cause of disease or not? | Pathogenic; Adolescent alopeciam dentogingival abnormalitites and intellectual disability | CACACCACATAGTCCTTCGAAGGTGAGCGAAGCTGGTTTTCTATTTGAATCAGATCTGTTGGTTTAATTCCCACAACCATACTGTAAGTTCAAGGCCAGGAACCACCTTGTATTATTTTTTGGCCTGAGGAATCTGGCCTGAGTTTTGAGTACACAGGAAGTGCTCAGAGGACCCGGGGGCTATGTTGCAGGCAGGCATAGATACGGTCTCTGGCTTCTGTGGATTTGTTACAACTTATTCAGAAAGAACAACTTGAACATTTATTAGCTGAGAAGTTCATATTAGGCAATAAGTAGTGTTAGCTTTTATGAACCTGCCT... | CACACCACATAGTCCTTCGAAGGTGAGCGAAGCTGGTTTTCTATTTGAATCAGATCTGTTGGTTTAATTCCCACAACCATACTGTAAGTTCAAGGCCAGGAACCACCTTGTATTATTTTTTGGCCTGAGGAATCTGGCCTGAGTTTTGAGTACACAGGAAGTGCTCAGAGGACCCGGGGGCTATGTTGCAGGCAGGCATAGATACGGTCTCTGGCTTCTGTGGATTTGTTACAACTTATTCAGAAAGAACAACTTGAACATTTATTAGCTGAGAAGTTCATATTAGGCAATAAGTAGTGTTAGCTTTTATGAACCTGCCT... |
Task1_train_4077 | A change on Chromosome 2 affects gene ITGB6 (integrin subunit beta 6). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Amelogenesis imperfecta type 1H | CAACCATACTGTAAGTTCAAGGCCAGGAACCACCTTGTATTATTTTTTGGCCTGAGGAATCTGGCCTGAGTTTTGAGTACACAGGAAGTGCTCAGAGGACCCGGGGGCTATGTTGCAGGCAGGCATAGATACGGTCTCTGGCTTCTGTGGATTTGTTACAACTTATTCAGAAAGAACAACTTGAACATTTATTAGCTGAGAAGTTCATATTAGGCAATAAGTAGTGTTAGCTTTTATGAACCTGCCTCGTTCAAAATGGAGCTTTTTGTGGTGCTTTTGAAAAGTTGCAAGAAAAGGGTAATGAAAAGGGGATAAATTTT... | CAACCATACTGTAAGTTCAAGGCCAGGAACCACCTTGTATTATTTTTTGGCCTGAGGAATCTGGCCTGAGTTTTGAGTACACAGGAAGTGCTCAGAGGACCCGGGGGCTATGTTGCAGGCAGGCATAGATACGGTCTCTGGCTTCTGTGGATTTGTTACAACTTATTCAGAAAGAACAACTTGAACATTTATTAGCTGAGAAGTTCATATTAGGCAATAAGTAGTGTTAGCTTTTATGAACCTGCCTCGTTCAAAATGGAGCTTTTTGTGGTGCTTTTGAAAAGTTGCAAGAAAAGGGTAATGAAAAGGGGATAAATTTT... |
Task1_train_4078 | A variant has been detected on Chromosome 2 in ITGB6 (integrin subunit beta 6). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Amelogenesis imperfecta type 1H | ACGTGAAATTTCTGAGGTGATGGAAATATTCTACATCATGTTTTGGATATTGATTGCAATGGTATATTTAACCATCAAAACACATGAAACTGAACATTTTTGATCTGTGCATTTTAGGCATGTCAACTATACATTAAAAGGAGTTGCGAGGGAGTGGGCAGACAGTGCCCTTATTGCCCCTATTTTCCTCCTTTCCTTCTGACTGAAATGAAGAAGTAATGATTAGTGCCCCAGCAACATTCTTGGACTGTGAACATAAAATCCAAGTGTCAATAATGGTGAAGCAGAGAGGGGGAAAAAGGCCTAGATTCCTCATGTTT... | ACGTGAAATTTCTGAGGTGATGGAAATATTCTACATCATGTTTTGGATATTGATTGCAATGGTATATTTAACCATCAAAACACATGAAACTGAACATTTTTGATCTGTGCATTTTAGGCATGTCAACTATACATTAAAAGGAGTTGCGAGGGAGTGGGCAGACAGTGCCCTTATTGCCCCTATTTTCCTCCTTTCCTTCTGACTGAAATGAAGAAGTAATGATTAGTGCCCCAGCAACATTCTTGGACTGTGAACATAAAATCCAAGTGTCAATAATGGTGAAGCAGAGAGGGGGAAAAAGGCCTAGATTCCTCATGTTT... |
Task1_train_4079 | A variant found in Chromosome 2 affects TBR1 (T-box brain transcription factor 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause? | Pathogenic; Inborn genetic diseases | CCTCGTGCTATTTATTTGTGCCAACATCTTTTTAAATTGGTTTTTTTCTATTCCTCTTTAGATTCTTTTTCCTTTTAAAAATTATTGGCATGGATGCTTTTTCTCCCCTCCAGATTATATAAACATTAAACACACACACGTACACACACACACACGTTTTCAGTAGCGATTACTGTGTTGACACCACTTCCACTCTGTCTCCCCAGATCAGCGCTTCTGACGAGCCCATTTGCACGGGGACTCGGCCCTCTCTTTTCCTGGCGAGGCTTTTGAACCTGTCGCCAAGCCAGTACCTCAGAGAGAAGGAAATGCAGAGGGAC... | CCTCGTGCTATTTATTTGTGCCAACATCTTTTTAAATTGGTTTTTTTCTATTCCTCTTTAGATTCTTTTTCCTTTTAAAAATTATTGGCATGGATGCTTTTTCTCCCCTCCAGATTATATAAACATTAAACACACACACGTACACACACACACACGTTTTCAGTAGCGATTACTGTGTTGACACCACTTCCACTCTGTCTCCCCAGATCAGCGCTTCTGACGAGCCCATTTGCACGGGGACTCGGCCCTCTCTTTTCCTGGCGAGGCTTTTGAACCTGTCGCCAAGCCAGTACCTCAGAGAGAAGGAAATGCAGAGGGAC... |
Task1_train_4080 | Here is a genetic alteration in TBR1 (T-box brain transcription factor 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Autism, susceptibility to, 5 | TTGTGCCAACATCTTTTTAAATTGGTTTTTTTCTATTCCTCTTTAGATTCTTTTTCCTTTTAAAAATTATTGGCATGGATGCTTTTTCTCCCCTCCAGATTATATAAACATTAAACACACACACGTACACACACACACACGTTTTCAGTAGCGATTACTGTGTTGACACCACTTCCACTCTGTCTCCCCAGATCAGCGCTTCTGACGAGCCCATTTGCACGGGGACTCGGCCCTCTCTTTTCCTGGCGAGGCTTTTGAACCTGTCGCCAAGCCAGTACCTCAGAGAGAAGGAAATGCAGAGGGACGAGAAGGATGCATGG... | TTGTGCCAACATCTTTTTAAATTGGTTTTTTTCTATTCCTCTTTAGATTCTTTTTCCTTTTAAAAATTATTGGCATGGATGCTTTTTCTCCCCTCCAGATTATATAAACATTAAACACACACACGTACACACACACACACGTTTTCAGTAGCGATTACTGTGTTGACACCACTTCCACTCTGTCTCCCCAGATCAGCGCTTCTGACGAGCCCATTTGCACGGGGACTCGGCCCTCTCTTTTCCTGGCGAGGCTTTTGAACCTGTCGCCAAGCCAGTACCTCAGAGAGAAGGAAATGCAGAGGGACGAGAAGGATGCATGG... |
Task1_train_4081 | A variant was discovered on Chromosome 2, affecting TBR1 (T-box brain transcription factor 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Autism, susceptibility to, 5 | GTATTAGCTGGAAAAGACAGACTCTGGAACTTTTACAGGGCGAGAAGAGGCCACCGGCTCGCGCTTTGTATACTTTGCACTTGAAATCGTTACATTCAACTGAATATTTGGCTCATTCAGATCCGAAAAGTCTCCTAGCATCGTCGAATTCCCTCCTCCGCCCCTCCGCTCTAAAGGGGGGAAGGGGGGGAAGGTAGGAAATGTTTAGTAAATTCCACATCTTTGAATCTTCCTAAAGCAGTGGTCACAGAGCTTAAAGGTGACACAACAGTGCTCACGTAAACCAACACACATTCCCCACCCCCCAAGCCAACAATAAA... | GTATTAGCTGGAAAAGACAGACTCTGGAACTTTTACAGGGCGAGAAGAGGCCACCGGCTCGCGCTTTGTATACTTTGCACTTGAAATCGTTACATTCAACTGAATATTTGGCTCATTCAGATCCGAAAAGTCTCCTAGCATCGTCGAATTCCCTCCTCCGCCCCTCCGCTCTAAAGGGGGGAAGGGGGGGAAGGTAGGAAATGTTTAGTAAATTCCACATCTTTGAATCTTCCTAAAGCAGTGGTCACAGAGCTTAAAGGTGACACAACAGTGCTCACGTAAACCAACACACATTCCCCACCCCCCAAGCCAACAATAAA... |
Task1_train_4082 | This genomic variant is located on Chromosome 2, within the TBR1 (T-box brain transcription factor 1) gene. Can you determine its pathogenicity and name any linked disease? | Pathogenic; Autism, susceptibility to, 5 | CCCAGCCGGGGCTGGTGCCCGGCAAAGCACAGGTGTACCTGTGCAACAGGCCCCTTTGGCTGAAATTTCACCGGCACCAAACGGAGATGATCATCACCAAACAGGGAAGGTAATACTACATTTTTGGCTGCCGCTGCTCTAGGCGCAGCCGGGGACAAGTGCACCTAGGCTGTGACTGCCGCGGCAGCGACGATTTGGGGTCGGGAGCGGAGTGGAAGGCGCCCTAGAGTTGGCTAGTTTTGGAAAGGGGGAAAGTGGAAGGGATAACCGCCAGGGTGATGTTGGTGGGGGGGACCCCGTTCTAGGAACATAGTGGGAGA... | CCCAGCCGGGGCTGGTGCCCGGCAAAGCACAGGTGTACCTGTGCAACAGGCCCCTTTGGCTGAAATTTCACCGGCACCAAACGGAGATGATCATCACCAAACAGGGAAGGTAATACTACATTTTTGGCTGCCGCTGCTCTAGGCGCAGCCGGGGACAAGTGCACCTAGGCTGTGACTGCCGCGGCAGCGACGATTTGGGGTCGGGAGCGGAGTGGAAGGCGCCCTAGAGTTGGCTAGTTTTGGAAAGGGGGAAAGTGGAAGGGATAACCGCCAGGGTGATGTTGGTGGGGGGGACCCCGTTCTAGGAACATAGTGGGAGA... |
Task1_train_4083 | Here is a mutation in TBR1 (T-box brain transcription factor 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Autism, susceptibility to, 5 | CGGGGCTGGTGCCCGGCAAAGCACAGGTGTACCTGTGCAACAGGCCCCTTTGGCTGAAATTTCACCGGCACCAAACGGAGATGATCATCACCAAACAGGGAAGGTAATACTACATTTTTGGCTGCCGCTGCTCTAGGCGCAGCCGGGGACAAGTGCACCTAGGCTGTGACTGCCGCGGCAGCGACGATTTGGGGTCGGGAGCGGAGTGGAAGGCGCCCTAGAGTTGGCTAGTTTTGGAAAGGGGGAAAGTGGAAGGGATAACCGCCAGGGTGATGTTGGTGGGGGGGACCCCGTTCTAGGAACATAGTGGGAGAGCCAGT... | CGGGGCTGGTGCCCGGCAAAGCACAGGTGTACCTGTGCAACAGGCCCCTTTGGCTGAAATTTCACCGGCACCAAACGGAGATGATCATCACCAAACAGGGAAGGTAATACTACATTTTTGGCTGCCGCTGCTCTAGGCGCAGCCGGGGACAAGTGCACCTAGGCTGTGACTGCCGCGGCAGCGACGATTTGGGGTCGGGAGCGGAGTGGAAGGCGCCCTAGAGTTGGCTAGTTTTGGAAAGGGGGAAAGTGGAAGGGATAACCGCCAGGGTGATGTTGGTGGGGGGGACCCCGTTCTAGGAACATAGTGGGAGAGCCAGT... |
Task1_train_4084 | Consider this mutation in TBR1 (T-box brain transcription factor 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Autism, susceptibility to, 5 | GGACTGGGCAGTGCCAGGGGCATATGTAAACAATGTATTTCTTTCTCTAGGAAATCGGGTCTATATGCATCCGGATTCCCCCAACACTGGGGCTCACTGGATGCGCCAAGAAATCTCTTTTGGAAAATTAAAACTTACGAACAACAAAGGAGCTTCAAATAACAATGGGCAGGTCAGTGGCTCAAGCGCTCGTGTTTTCTCTCTCTCTCACCCCTTCCTCCCTGACATCCAGTTCGTCAGTGTAAAGCAGCATATGGAACTGGATACACGTTTCTTTGCTTCATTAAAAAGACTTAAAAATTGTATTTCCACCCTCCAAA... | GGACTGGGCAGTGCCAGGGGCATATGTAAACAATGTATTTCTTTCTCTAGGAAATCGGGTCTATATGCATCCGGATTCCCCCAACACTGGGGCTCACTGGATGCGCCAAGAAATCTCTTTTGGAAAATTAAAACTTACGAACAACAAAGGAGCTTCAAATAACAATGGGCAGGTCAGTGGCTCAAGCGCTCGTGTTTTCTCTCTCTCTCACCCCTTCCTCCCTGACATCCAGTTCGTCAGTGTAAAGCAGCATATGGAACTGGATACACGTTTCTTTGCTTCATTAAAAAGACTTAAAAATTGTATTTCCACCCTCCAAA... |
Task1_train_4085 | Gene TBR1 (T-box brain transcription factor 1) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Autism, susceptibility to, 5 | TGTATTTCTTTCTCTAGGAAATCGGGTCTATATGCATCCGGATTCCCCCAACACTGGGGCTCACTGGATGCGCCAAGAAATCTCTTTTGGAAAATTAAAACTTACGAACAACAAAGGAGCTTCAAATAACAATGGGCAGGTCAGTGGCTCAAGCGCTCGTGTTTTCTCTCTCTCTCACCCCTTCCTCCCTGACATCCAGTTCGTCAGTGTAAAGCAGCATATGGAACTGGATACACGTTTCTTTGCTTCATTAAAAAGACTTAAAAATTGTATTTCCACCCTCCAAATTTATATTAAATCTGTAAAGTTGTTCTCATTGG... | TGTATTTCTTTCTCTAGGAAATCGGGTCTATATGCATCCGGATTCCCCCAACACTGGGGCTCACTGGATGCGCCAAGAAATCTCTTTTGGAAAATTAAAACTTACGAACAACAAAGGAGCTTCAAATAACAATGGGCAGGTCAGTGGCTCAAGCGCTCGTGTTTTCTCTCTCTCTCACCCCTTCCTCCCTGACATCCAGTTCGTCAGTGTAAAGCAGCATATGGAACTGGATACACGTTTCTTTGCTTCATTAAAAAGACTTAAAAATTGTATTTCCACCCTCCAAATTTATATTAAATCTGTAAAGTTGTTCTCATTGG... |
Task1_train_4086 | Given a variant located on Chromosome 2 and affecting IFIH1 (interferon induced with helicase C domain 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic. | Pathogenic; Singleton-Merten syndrome 1 | CGCTATTTTTTGAATGAAACATATGCACCATAGTTCAAGTTTTCAGGTACCATCACATATTAAGTTTCACACTATTTTAAACATGTATTTTAAAACTTTAAAGTAGAAATAACACTTTTTTAATTGAAAAAAGTTACTGAAAAACATAGATGAAAAAACCTGATATTTGTTGACACCTCAAAAACAGTCTACATATGTTACAGTAGTACATTTAGCTATTTTATGCATTTGGTTTCTTGCATAGTTTCCAAAACATTCTAGAAGACAGCAATACTTTAAATGGAGTCAGCTGGAGTTTAAAAAAGTATTTTAAGAAAACC... | CGCTATTTTTTGAATGAAACATATGCACCATAGTTCAAGTTTTCAGGTACCATCACATATTAAGTTTCACACTATTTTAAACATGTATTTTAAAACTTTAAAGTAGAAATAACACTTTTTTAATTGAAAAAAGTTACTGAAAAACATAGATGAAAAAACCTGATATTTGTTGACACCTCAAAAACAGTCTACATATGTTACAGTAGTACATTTAGCTATTTTATGCATTTGGTTTCTTGCATAGTTTCCAAAACATTCTAGAAGACAGCAATACTTTAAATGGAGTCAGCTGGAGTTTAAAAAAGTATTTTAAGAAAACC... |
Task1_train_4087 | Gene IFIH1 (interferon induced with helicase C domain 1), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; Aicardi-Goutieres syndrome 7 | CGCTATTTTTTGAATGAAACATATGCACCATAGTTCAAGTTTTCAGGTACCATCACATATTAAGTTTCACACTATTTTAAACATGTATTTTAAAACTTTAAAGTAGAAATAACACTTTTTTAATTGAAAAAAGTTACTGAAAAACATAGATGAAAAAACCTGATATTTGTTGACACCTCAAAAACAGTCTACATATGTTACAGTAGTACATTTAGCTATTTTATGCATTTGGTTTCTTGCATAGTTTCCAAAACATTCTAGAAGACAGCAATACTTTAAATGGAGTCAGCTGGAGTTTAAAAAAGTATTTTAAGAAAACC... | CGCTATTTTTTGAATGAAACATATGCACCATAGTTCAAGTTTTCAGGTACCATCACATATTAAGTTTCACACTATTTTAAACATGTATTTTAAAACTTTAAAGTAGAAATAACACTTTTTTAATTGAAAAAAGTTACTGAAAAACATAGATGAAAAAACCTGATATTTGTTGACACCTCAAAAACAGTCTACATATGTTACAGTAGTACATTTAGCTATTTTATGCATTTGGTTTCTTGCATAGTTTCCAAAACATTCTAGAAGACAGCAATACTTTAAATGGAGTCAGCTGGAGTTTAAAAAAGTATTTTAAGAAAACC... |
Task1_train_4088 | A variant was discovered on Chromosome 2, affecting IFIH1 (interferon induced with helicase C domain 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Aicardi-Goutieres syndrome 7 | TTGACACCTCAAAAACAGTCTACATATGTTACAGTAGTACATTTAGCTATTTTATGCATTTGGTTTCTTGCATAGTTTCCAAAACATTCTAGAAGACAGCAATACTTTAAATGGAGTCAGCTGGAGTTTAAAAAAGTATTTTAAGAAAACCATCAATTATGTGTGTCTTCTTTTGTCCTCCTGTATACCCAAGAGATCTCATTGGTTAATATTCATCTCTGATTAGGCATTATCAAGGAAAGATTCAAAACTACTGTAATATCAACTCAACTAATCCATCAAAGCTTCAGAAGAATGTTCTTTTCACACCCTCCAACATT... | TTGACACCTCAAAAACAGTCTACATATGTTACAGTAGTACATTTAGCTATTTTATGCATTTGGTTTCTTGCATAGTTTCCAAAACATTCTAGAAGACAGCAATACTTTAAATGGAGTCAGCTGGAGTTTAAAAAAGTATTTTAAGAAAACCATCAATTATGTGTGTCTTCTTTTGTCCTCCTGTATACCCAAGAGATCTCATTGGTTAATATTCATCTCTGATTAGGCATTATCAAGGAAAGATTCAAAACTACTGTAATATCAACTCAACTAATCCATCAAAGCTTCAGAAGAATGTTCTTTTCACACCCTCCAACATT... |
Task1_train_4089 | Here is a genetic alteration in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Aicardi-Goutieres syndrome 7 | AAAATTGAATCAATGCTAGAGAAAAACATTTATGATGATCAACTTGCTCCTAGAAGTCTGATTTAATTTTAAGAAGCTCTGTTATGTTTAAACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGA... | AAAATTGAATCAATGCTAGAGAAAAACATTTATGATGATCAACTTGCTCCTAGAAGTCTGATTTAATTTTAAGAAGCTCTGTTATGTTTAAACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGA... |
Task1_train_4090 | This variant affects gene IFIH1 (interferon induced with helicase C domain 1) located on Chromosome 2. Evaluate its biological effect and specify any disease association. | Pathogenic; Aicardi-Goutieres syndrome 7 | AGAGAAAAACATTTATGATGATCAACTTGCTCCTAGAAGTCTGATTTAATTTTAAGAAGCTCTGTTATGTTTAAACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCC... | AGAGAAAAACATTTATGATGATCAACTTGCTCCTAGAAGTCTGATTTAATTTTAAGAAGCTCTGTTATGTTTAAACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCC... |
Task1_train_4091 | This mutation occurs in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Aicardi-Goutieres syndrome 7 | GCTCTGTTATGTTTAAACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTC... | GCTCTGTTATGTTTAAACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTC... |
Task1_train_4092 | The gene IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Aicardi-Goutieres syndrome 7 | AACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGA... | AACTGTGTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGA... |
Task1_train_4093 | The gene IFIH1 (interferon induced with helicase C domain 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Incidental Discovery | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... |
Task1_train_4094 | This variant lies on Chromosome 2 and affects the gene IFIH1 (interferon induced with helicase C domain 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Aicardi-Goutieres syndrome 7 | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... |
Task1_train_4095 | Located on Chromosome 2, this mutation impacts IFIH1 (interferon induced with helicase C domain 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Singleton-Merten syndrome 1 | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... |
Task1_train_4096 | This alteration occurs within gene IFIH1 (interferon induced with helicase C domain 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant? | Pathogenic; Inborn genetic diseases | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... |
Task1_train_4097 | Consider this mutation in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Is this a benign change or a disease-causing variant? | Pathogenic; Singleton-Merten syndrome 1 | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... |
Task1_train_4098 | Here is a mutation in IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause? | Pathogenic; Aicardi-Goutieres syndrome 7 | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... | GTTTATGACATGGAAGAAAGATTTCATCTTATCTGTCAATTCTCATCATTCATTAGTGGTTGTCTGAAGATTGTGTTGAGAAAGATGCTCAAATTAGAAGAAAGTAAACATCTTCCCAGTAGCAATGTTTTCTACAGGCTTTGAACAGATTACTGGTGGCATGTAGCCCTCCTTCCCCATTGCCACTCCTACTCTAAGTTCATCTACCTGAAGTAGTTTTAGGAGGGCAGGTTTCTTGGCCAAAGGAGACCTAAAAATATAGTCCATTCTGGGGCACCCAAAGGGACAGAGTCTTATTCTAAAGAATGTCTGGAAGAATT... |
Task1_train_4099 | Given this variant in gene IFIH1 (interferon induced with helicase C domain 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Aicardi-Goutieres syndrome 7 | ACCAGGCACACACTAGAAATATAAACTTCGTGCAGCAGGAGTCTTATGTGTTTTGTTTCCTCTGTTGGCTGTTCCTATAAGGTTACCTGGCACACAGTAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGT... | ACCAGGCACACACTAGAAATATAAACTTCGTGCAGCAGGAGTCTTATGTGTTTTGTTTCCTCTGTTGGCTGTTCCTATAAGGTTACCTGGCACACAGTAGGCGTTTCATCTACATTTCTGAAATTAAAAAACTGTGCCTTTACAAACAAATTGGATCAAACCAAAATTACCATGTTGGATTGAATCAGTGAGTTGCAGCAGTCTTTCTGGAACAAGGCAGGCTAAATTTATATTATCCAAATTTATGGTTGGTTTTACTGGAATGAGGAATGGCTCCCTGATAATTTCCTGCCCACCATGGATCTTGATTCTCTGCATGT... |
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